Mercurial > repos > proteore > proteore_prot_features
view tool-data/nextprot_ref_07-05-2019.tsv @ 17:2952bae8a1ea draft
planemo upload commit b8671ffe2e12dc6612b971a3e6e1dc71496aefd0
| author | proteore |
|---|---|
| date | Fri, 24 Jan 2020 05:04:15 -0500 |
| parents | 7caa90759aba |
| children | 0a9ae3d7dbf2 |
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NextprotID MW SeqLength IsoPoint Chr SubcellLocations Diseases TMDomains ProteinExistence NX_A0A024RBG1 20434 181 5.99 1 Cytoplasm NA 0 PE1 NX_A0A075B6H9 12773 119 6.01 22 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6I0 12814 122 4.33 22 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6I1 12987 120 5.8 22 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6I4 12395 117 7.85 22 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6I9 12468 117 6.69 22 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6J1 13277 123 4.75 22 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6J6 12549 115 3.95 22 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6J9 12412 118 4.66 22 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6K0 12466 115 4.58 22 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6K2 12387 115 5.34 22 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6K4 12441 115 4.72 22 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6K5 12332 115 6.81 22 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6K6 13330 122 5.39 22 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6N1 12769 114 6.53 7 Cell membrane NA 0 PE1 NX_A0A075B6N2 12175 111 8.52 7 Cell membrane NA 0 PE1 NX_A0A075B6N3 12929 115 7.68 7 Cell membrane NA 0 PE3 NX_A0A075B6N4 12983 114 5.91 7 Cell membrane NA 0 PE3 NX_A0A075B6P5 12957 120 5.61 2 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6Q5 12891 118 7.69 14 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6R2 12848 117 9.64 14 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6S2 13143 120 6.53 2 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6S4 12835 117 9.22 2 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6S5 12712 117 8.5 2 Cell membrane;Secreted NA 0 PE1 NX_A0A075B6S6 13215 120 7.79 2 Cell membrane;Secreted NA 0 PE3 NX_A0A075B6T6 12838 113 6.17 14 Cell membrane NA 0 PE1 NX_A0A075B6T7 15362 132 9.2 14 Cell membrane NA 0 PE3 NX_A0A075B6T8 12354 112 4.83 14 Cell membrane NA 0 PE3 NX_A0A075B6U4 12598 112 8.39 14 Cell membrane NA 0 PE3 NX_A0A075B6V5 12697 113 6.57 14 Cell membrane NA 0 PE3 NX_A0A075B6W5 13545 121 8.45 14 Cell membrane NA 0 PE3 NX_A0A075B6X5 12414 111 5.26 14 Cell membrane NA 0 PE3 NX_A0A075B6Y3 2097 20 11 14 Cell membrane NA 0 PE4 NX_A0A075B706 1761 16 8.26 14 Cell membrane NA 0 PE1 NX_A0A075B759 18197 164 9.43 1 Cytoplasm NA 0 PE3 NX_A0A075B767 18208 164 9.19 1 Cytoplasm NA 0 PE3 NX_A0A087WSX0 13162 123 6.69 22 Cell membrane;Secreted NA 0 PE1 NX_A0A087WSY4 13025 118 9.7 3 Cell membrane;Secreted NA 0 PE1 NX_A0A087WSY6 12534 115 5.14 2 Cell membrane;Secreted NA 0 PE3 NX_A0A087WSZ0 12837 117 7.62 2 Cell membrane;Secreted NA 0 PE1 NX_A0A087WSZ9 12582 112 8.58 14 Cell membrane NA 0 PE3 NX_A0A087WT01 12043 109 5.7 14 Cell membrane NA 0 PE1 NX_A0A087WT02 12289 112 5.26 14 Cell membrane NA 0 PE3 NX_A0A087WT03 12306 109 7.76 14 Cell membrane NA 0 PE1 NX_A0A087WTH1 11832 108 7.61 16 Membrane NA 2 PE2 NX_A0A087WTH5 15028 132 8.73 21 Membrane NA 1 PE3 NX_A0A087WUL8 440408 3843 4.53 1 Cytoplasm NA 0 PE5 NX_A0A087WV62 12845 115 6.7 7 Cell membrane NA 0 PE3 NX_A0A087WVF3 62187 549 9.2 17 Cell membrane NA 0 PE2 NX_A0A087WW87 13310 121 4.43 2 Cell membrane;Secreted NA 0 PE1 NX_A0A087WX78 41674 387 8.87 18 Nucleus NA 0 PE5 NX_A0A087WXM9 40829 373 8.65 5 Kinetochore;Centromere NA 0 PE1 NX_A0A087WXS9 62205 549 9.2 17 Cell membrane NA 0 PE3 NX_A0A087X0M5 13028 115 9.14 7 Cell membrane NA 0 PE3 NX_A0A087X179 62131 549 9.18 17 Cell membrane NA 0 PE2 NX_A0A087X1C5 57489 515 8.7 22 Mitochondrion;Cytoplasm;Membrane NA 2 PE5 NX_A0A087X1G2 62171 549 9.23 17 Cell membrane NA 0 PE3 NX_A0A096LNP1 8156 70 8.26 11 Secreted NA 0 PE2 NX_A0A096LP01 10908 95 6.24 20 Nucleoplasm;Cytosol;Membrane NA 1 PE1 NX_A0A096LP49 114856 1063 9.76 9 NA NA 0 PE1 NX_A0A096LP55 10752 91 4.39 1 Mitochondrion inner membrane NA 0 PE3 NX_A0A096LPI5 11989 108 8.8 6 NA NA 0 PE4 NX_A0A0A0MRZ7 13297 120 4.9 2 Cell membrane;Secreted NA 0 PE3 NX_A0A0A0MRZ8 12625 115 5.15 2 Cell membrane;Secreted NA 0 PE3 NX_A0A0A0MRZ9 13446 124 7.76 22 Cell membrane;Secreted NA 0 PE1 NX_A0A0A0MS14 13508 117 9.2 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0A0MS15 13056 119 8.84 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0A0MT36 12340 114 6.7 2 Cell membrane;Secreted NA 0 PE3 NX_A0A0A0MT76 4776 42 9.53 22 Cell membrane;Secreted NA 0 PE4 NX_A0A0A0MT89 1394 12 8.59 2 Cell membrane;Secreted NA 0 PE4 NX_A0A0A6YYC5 12931 116 5.34 14 Cell membrane NA 0 PE1 NX_A0A0A6YYD4 13967 124 5.84 7 Cell membrane NA 0 PE3 NX_A0A0A6YYG2 12632 114 7.63 7 Cell membrane NA 0 PE3 NX_A0A0A6YYG3 12321 113 7.66 7 Cell membrane NA 0 PE3 NX_A0A0A6YYJ7 12676 113 6.81 14 Cell membrane NA 0 PE3 NX_A0A0A6YYK1 12788 113 7.81 14 Cell membrane NA 0 PE3 NX_A0A0A6YYK6 12578 109 9.51 14 Cell membrane NA 0 PE3 NX_A0A0A6YYK7 13195 116 4.75 14 Cell membrane NA 0 PE1 NX_A0A0A6YYL3 61708 544 5.75 15 NA NA 0 PE1 NX_A0A0B4J1U3 12478 117 4.56 22 Cell membrane;Secreted NA 0 PE1 NX_A0A0B4J1U6 12608 114 5.82 7 Cell membrane NA 0 PE3 NX_A0A0B4J1U7 13481 121 9.3 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0B4J1V0 12926 119 8.84 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0B4J1V1 12840 117 8.49 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0B4J1V2 13182 119 8.49 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0B4J1V6 12858 119 9.3 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0B4J1X5 12840 117 8.91 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0B4J1X8 13077 118 5.28 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0B4J1Y8 13024 123 6.7 22 Cell membrane;Secreted NA 0 PE1 NX_A0A0B4J1Y9 13203 119 7.69 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0B4J1Z2 12989 117 9.1 2 Cell membrane;Secreted NA 0 PE1 NX_A0A0B4J234 12502 112 6.71 14 Cell membrane NA 0 PE3 NX_A0A0B4J235 12716 113 6.71 14 Cell membrane NA 0 PE3 NX_A0A0B4J237 12429 113 6.89 14 Cell membrane NA 0 PE3 NX_A0A0B4J238 11863 106 5.19 14 Cell membrane NA 0 PE3 NX_A0A0B4J240 12852 114 9.07 14 Cell membrane NA 0 PE3 NX_A0A0B4J241 12580 112 5.5 14 Cell membrane NA 0 PE1 NX_A0A0B4J244 12614 114 7.74 14 Cell membrane NA 0 PE3 NX_A0A0B4J245 12865 112 7.68 14 Cell membrane NA 0 PE3 NX_A0A0B4J248 11926 108 4.49 14 Cell membrane NA 0 PE3 NX_A0A0B4J249 12968 113 4.78 14 Cell membrane NA 0 PE3 NX_A0A0B4J262 12690 113 5.17 14 Cell membrane NA 0 PE3 NX_A0A0B4J263 12540 110 7.76 14 Cell membrane NA 0 PE1 NX_A0A0B4J264 13297 116 6.2 14 Cell membrane NA 0 PE3 NX_A0A0B4J265 12172 109 6.17 14 Cell membrane NA 0 PE3 NX_A0A0B4J266 12352 112 9.22 14 Cell membrane NA 0 PE3 NX_A0A0B4J268 12215 109 7.76 14 Cell membrane NA 0 PE1 NX_A0A0B4J271 13173 114 7.71 14 Cell membrane NA 0 PE1 NX_A0A0B4J272 12919 114 5.51 14 Cell membrane NA 0 PE1 NX_A0A0B4J273 12465 112 6.28 14 Cell membrane NA 0 PE3 NX_A0A0B4J274 12682 112 5.02 14 Cell membrane NA 0 PE1 NX_A0A0B4J275 12500 112 7.81 14 Cell membrane NA 0 PE3 NX_A0A0B4J276 12388 109 9 14 Cell membrane NA 0 PE3 NX_A0A0B4J277 12145 110 6.54 14 Cell membrane NA 0 PE1 NX_A0A0B4J279 12289 112 5.21 14 Cell membrane NA 0 PE1 NX_A0A0B4J280 11556 105 6.1 14 Cell membrane NA 0 PE3 NX_A0A0B4J2A2 18156 164 9.32 1 Cytoplasm NA 0 PE2 NX_A0A0B4J2D5 28142 268 8.5 21 Mitochondrion NA 0 PE1 NX_A0A0B4J2D9 12569 117 7.68 2 Cell membrane;Secreted NA 0 PE1 NX_A0A0B4J2E0 12982 115 5.84 7 Cell membrane NA 0 PE1 NX_A0A0B4J2F0 6313 54 8.04 15 Secreted NA 0 PE1 NX_A0A0B4J2F2 84930 783 6.81 21 NA NA 0 PE3 NX_A0A0B4J2H0 12660 117 8.64 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0C4DH24 12430 114 6.7 2 Cell membrane;Secreted NA 0 PE3 NX_A0A0C4DH25 12515 116 4.46 2 Cell membrane;Secreted NA 0 PE1 NX_A0A0C4DH29 13008 117 9.59 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0C4DH31 12820 117 8.98 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0C4DH32 12673 117 7.71 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0C4DH33 12824 117 5.04 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0C4DH34 13124 117 9.36 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0C4DH38 12675 117 8.45 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0C4DH39 13005 117 9.34 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0C4DH41 13066 118 9.36 14 Cell membrane;Secreted NA 0 PE3 NX_A0A0C4DH42 12698 116 8.38 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0C4DH43 13312 119 8.5 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0C4DH55 13148 119 5.64 2 Cell membrane;Secreted NA 0 PE1 NX_A0A0C4DH59 12518 114 5.52 7 Cell membrane NA 0 PE3 NX_A0A0C4DH62 1910 17 5.24 14 Cell membrane;Secreted NA 0 PE4 NX_A0A0C4DH67 12537 115 9.21 2 Cell membrane;Secreted NA 0 PE1 NX_A0A0C4DH68 13079 120 8.74 2 Cell membrane;Secreted NA 0 PE1 NX_A0A0C4DH69 12715 117 8.52 2 Cell membrane;Secreted NA 0 PE1 NX_A0A0C4DH72 12697 117 8.52 2 Cell membrane;Secreted NA 0 PE1 NX_A0A0C4DH73 12645 117 8.55 2 Cell membrane;Secreted NA 0 PE3 NX_A0A0C5B5G6 2175 16 10.27 MT Secreted NA 0 PE1 NX_A0A0D9SF12 16203 145 8.31 1 Membrane NA 1 PE2 NX_A0A0G2JMD5 55092 474 8.62 1 NA NA 0 PE3 NX_A0A0G2JMI3 12871 117 4.72 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0G2JS06 13394 123 8.84 22 Cell membrane;Secreted NA 0 PE1 NX_A0A0J9YVY3 12849 117 8.86 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0J9YWL9 109806 993 8.94 X NA NA 0 PE5 NX_A0A0J9YX35 12823 117 7.68 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0J9YX75 12484 114 6.8 7 Cell membrane NA 0 PE3 NX_A0A0J9YX94 60071 578 4.47 X NA NA 0 PE1 NX_A0A0J9YXA8 1640 15 6 7 Cell membrane NA 0 PE4 NX_A0A0J9YXQ4 65155 647 4.62 X NA NA 0 PE1 NX_A0A0J9YXX1 12773 117 8.46 14 Cell membrane;Secreted NA 0 PE1 NX_A0A0J9YXY3 12525 114 8.38 7 Cell membrane NA 0 PE1 NX_A0A0J9YY54 78886 714 7.31 X NA NA 0 PE1 NX_A0A0K0K1A3 12970 114 6.36 7 Cell membrane NA 0 PE3 NX_A0A0K0K1A5 12402 114 6.01 7 Cell membrane NA 0 PE1 NX_A0A0K0K1B3 12225 111 8.57 7 Cell membrane NA 0 PE3 NX_A0A0K0K1C0 12817 115 4.72 7 Cell membrane NA 0 PE3 NX_A0A0K0K1C4 12838 114 8.45 7 Cell membrane NA 0 PE3 NX_A0A0K0K1D8 12632 114 7.64 7 Cell membrane NA 0 PE3 NX_A0A0K0K1E9 12787 115 6.71 7 Cell membrane NA 0 PE3 NX_A0A0K0K1G6 13035 114 6.58 7 Cell membrane NA 0 PE3 NX_A0A0K0K1G8 13045 114 7.75 7 Cell membrane NA 0 PE3 NX_A0A0K2S4Q6 21806 201 5.37 17 Secreted;Membrane NA 1 PE1 NX_A0A0U1RQE8 34553 302 8.56 11 NA NA 0 PE1 NX_A0A0U1RQF7 13402 123 9.67 16 NA NA 0 PE2 NX_A0A0U1RQI7 112602 1052 4.73 1 Nucleus NA 0 PE3 NX_A0A0U1RR11 29887 272 10.16 X NA NA 0 PE2 NX_A0A0U1RR37 20280 186 4.63 1 NA NA 0 PE4 NX_A0A0U1RRE5 7025 68 9.51 X P-body NA 0 PE1 NX_A0A0U1RRI6 31262 287 9.8 X NA NA 0 PE1 NX_A0A0U1RRK4 10701 108 4.78 14 NA NA 0 PE1 NX_A0A0U1RRL7 7680 71 4.64 20 NA NA 0 PE1 NX_A0A0U1RRN3 6977 59 6.54 11 Membrane NA 1 PE3 NX_A0A140G945 19909 173 5.77 21 Cytoplasm;Nucleus NA 0 PE1 NX_A0A183 9022 80 9.13 1 NA NA 0 PE2 NX_A0A1B0GTC6 10386 90 5.44 3 NA NA 0 PE1 NX_A0A1B0GTD5 15631 131 9.56 12 NA NA 0 PE2 NX_A0A1B0GTH6 81798 734 10.01 3 Nucleus NA 0 PE2 NX_A0A1B0GTI8 14321 121 4.92 13 Membrane NA 2 PE2 NX_A0A1B0GTK4 20560 181 8.96 2 Membrane NA 1 PE3 NX_A0A1B0GTK5 8682 79 8.8 X NA NA 0 PE3 NX_A0A1B0GTL2 20914 189 11.95 20 NA NA 0 PE1 NX_A0A1B0GTQ4 9607 84 11.45 6 Cell membrane NA 0 PE3 NX_A0A1B0GTR0 18455 161 8.6 19 Secreted NA 0 PE2 NX_A0A1B0GTR3 12028 108 10.8 X NA NA 0 PE1 NX_A0A1B0GTR4 11945 108 8.55 1 NA NA 0 PE5 NX_A0A1B0GTS1 37155 333 6.48 X Nucleus NA 0 PE2 NX_A0A1B0GTU1 88937 805 6.4 1 NA NA 0 PE1 NX_A0A1B0GTU2 6734 59 4.19 15 Membrane NA 1 PE3 NX_A0A1B0GTW7 85397 788 8.04 14 Membrane NA 1 PE3 NX_A0A1B0GTY4 20847 177 9.36 1 Membrane NA 1 PE1 NX_A0A1B0GTZ2 34479 297 8.83 14 NA NA 0 PE5 NX_A0A1B0GU29 16551 152 4.52 6 Membrane NA 1 PE3 NX_A0A1B0GU33 8127 70 10.53 9 NA NA 0 PE2 NX_A0A1B0GU71 11681 98 10.74 13 NA NA 0 PE3 NX_A0A1B0GUA5 10859 103 9.03 5 Membrane NA 1 PE2 NX_A0A1B0GUA6 21921 201 8.34 2 NA NA 0 PE5 NX_A0A1B0GUA7 18842 166 7.59 2 Membrane NA 1 PE2 NX_A0A1B0GUA9 23433 212 4.84 13 NA NA 0 PE1 NX_A0A1B0GUC4 12046 108 9 1 NA NA 0 PE4 NX_A0A1B0GUI7 9747 84 9.66 9 NA NA 0 PE5 NX_A0A1B0GUJ8 22873 204 9.07 19 NA NA 0 PE2 NX_A0A1B0GUQ0 8715 79 7.8 X NA NA 0 PE2 NX_A0A1B0GUS0 23875 222 6.04 19 NA NA 0 PE2 NX_A0A1B0GUS4 17875 154 7.67 13 NA NA 0 PE1 NX_A0A1B0GUT2 11738 108 9.21 10 NA NA 0 PE2 NX_A0A1B0GUU1 72432 675 5.84 17 Membrane NA 1 PE3 NX_A0A1B0GUV7 13937 120 8.99 9 NA NA 0 PE2 NX_A0A1B0GUW6 128649 1196 8.57 17 Membrane NA 1 PE1 NX_A0A1B0GUW7 6429 55 10.13 9 Membrane NA 1 PE3 NX_A0A1B0GUX0 20389 176 9.87 7 NA NA 0 PE1 NX_A0A1B0GUY1 29775 285 10.29 5 NA NA 0 PE1 NX_A0A1B0GV03 75583 622 5.31 15 NA NA 0 PE1 NX_A0A1B0GV22 8715 79 7.8 X NA NA 0 PE2 NX_A0A1B0GV85 56837 526 6.53 4 Membrane NA 1 PE2 NX_A0A1B0GV90 5988 55 6 1 Membrane NA 1 PE3 NX_A0A1B0GVG4 24954 234 10.03 19 NA NA 0 PE3 NX_A0A1B0GVG6 14093 124 4.82 11 NA NA 0 PE1 NX_A0A1B0GVH4 25576 220 8.73 8 Secreted NA 0 PE3 NX_A0A1B0GVH6 37385 325 9.25 13 NA NA 0 PE4 NX_A0A1B0GVH7 59586 501 9.96 4 NA NA 0 PE4 NX_A0A1B0GVK7 9685 77 9.92 3 NA NA 0 PE4 NX_A0A1B0GVM5 6800 59 10.18 X NA NA 0 PE4 NX_A0A1B0GVM6 13914 126 9.43 11 Cilium basal body NA 0 PE2 NX_A0A1B0GVN3 30198 265 9.03 2 Membrane NA 1 PE2 NX_A0A1B0GVQ0 9632 90 8.51 9 Lysosome membrane;Late endosome membrane NA 1 PE1 NX_A0A1B0GVS7 21509 189 4.64 3 NA NA 0 PE2 NX_A0A1B0GVT2 10135 93 5.51 17 Membrane NA 1 PE1 NX_A0A1B0GVV1 9379 85 5.56 11 Membrane NA 1 PE3 NX_A0A1B0GVY4 8394 71 5.19 4 Membrane NA 1 PE2 NX_A0A1B0GVZ2 9744 78 8.52 9 NA NA 0 PE4 NX_A0A1B0GVZ6 22665 204 11.53 19 NA NA 0 PE3 NX_A0A1B0GVZ9 26874 245 6.68 1 Membrane NA 5 PE3 NX_A0A1B0GW35 20250 172 6.31 4 NA NA 0 PE2 NX_A0A1B0GW64 14123 132 5.14 5 Membrane NA 1 PE3 NX_A0A1B0GWB2 26769 263 4.77 9 Membrane NA 2 PE1 NX_A0A1B0GWG4 10219 90 6.01 X Membrane NA 1 PE2 NX_A0A1B0GWH4 37128 333 6.48 X Nucleus NA 0 PE2 NX_A0A1B0GWK0 15275 134 5.66 17 NA NA 0 PE3 NX_A0A1B0GX31 12827 115 7.72 7 Cell membrane NA 0 PE3 NX_A0A1B0GX49 12298 114 7.68 7 Cell membrane NA 0 PE1 NX_A0A1B0GX51 12715 115 6.71 7 Cell membrane NA 0 PE3 NX_A0A1B0GX56 12955 115 9.2 14 Cell membrane NA 0 PE1 NX_A0A1B0GX68 13403 115 4.83 7 Cell membrane NA 0 PE3 NX_A0A1B0GX78 12997 115 6.07 7 Cell membrane NA 0 PE3 NX_A0A1B0GX95 12658 115 9.6 7 Cell membrane NA 0 PE3 NX_A0A1B0GXF2 12480 115 6.05 7 Cell membrane NA 0 PE1 NX_A0A1W2PP97 13152 115 5.79 19 NA NA 0 PE3 NX_A0A1W2PPG7 7528 69 5.14 19 Cell membrane NA 0 PE5 NX_A0A1W2PR19 27942 241 6.51 22 Cytoplasm NA 0 PE3 NX_A0A1W2PR48 48656 441 5.58 16 NA NA 0 PE1 NX_A0A1W2PS18 15819 150 4.16 19 Membrane NA 2 PE3 NX_A0A286YEV6 9792 105 8.41 2 NA NA 0 PE1 NX_A0A286YEX9 3825 47 7.96 2 NA NA 0 PE1 NX_A0A286YEY9 8607 88 8.46 2 NA NA 0 PE1 NX_A0A286YF01 8951 96 8.36 2 NA NA 0 PE1 NX_A0A286YF46 8201 85 8.39 2 NA NA 0 PE1 NX_A0A286YF58 39128 385 9.55 4 Membrane NA 4 PE3 NX_A0A286YF60 9511 100 8.47 2 NA NA 0 PE1 NX_A0A286YF77 9896 105 8.45 2 NA NA 0 PE1 NX_A0A286YFB4 10822 120 8.34 2 NA NA 0 PE1 NX_A0A286YFG1 10123 108 8.39 2 NA NA 0 PE1 NX_A0A2R8Y4Y8 18448 160 9.41 11 Secreted NA 0 PE3 NX_A0A2R8YFL7 21040 184 8.19 11 Secreted NA 0 PE3 NX_A0A2R8YFM6 21194 193 5.48 11 Secreted NA 0 PE3 NX_A0A539 12890 114 8.19 7 Cell membrane NA 0 PE3 NX_A0A576 12928 114 8.21 7 Cell membrane NA 0 PE3 NX_A0A577 12859 114 8.48 7 Cell membrane NA 0 PE3 NX_A0A578 12600 114 9.55 7 Cell membrane NA 0 PE1 NX_A0A584 12743 115 8.39 7 Cell membrane NA 0 PE3 NX_A0A589 12856 114 7.63 7 Cell membrane NA 0 PE3 NX_A0A597 12550 114 8.42 7 Cell membrane NA 0 PE3 NX_A0A599 12565 114 5.81 7 Cell membrane NA 0 PE3 NX_A0A5A2 12721 114 6.06 7 Cell membrane NA 0 PE3 NX_A0A5A6 12990 115 4.93 7 Cell membrane NA 0 PE3 NX_A0A5B0 12880 115 7.75 7 Cell membrane NA 0 PE3 NX_A0A5B6 13166 114 8.35 7 Cell membrane NA 0 PE1 NX_A0A5B7 12190 111 4.88 7 Cell membrane NA 0 PE3 NX_A0A5B9 19968 178 6.48 7 Cell membrane NA 1 PE1 NX_A0AUZ9 112253 987 8.69 2 Cytosol NA 0 PE1 NX_A0AV02 78239 714 5.51 3 Nucleoplasm;Membrane NA 13 PE1 NX_A0AV96 64099 593 7.56 4 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_A0AVF1 64178 554 6.5 7 Nucleus speckle;Cytosol;Cytoplasm;Nucleus;Cytoskeleton;Cilium NA 0 PE1 NX_A0AVI2 237935 2057 8.3 2 Cell membrane;Membrane NA 1 PE2 NX_A0AVI4 40464 362 7.84 4 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 3 PE1 NX_A0AVK6 94166 867 9.11 11 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_A0AVT1 117970 1052 5.76 4 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_A0FGR8 102357 921 9.33 7 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA 2 PE1 NX_A0FGR9 100035 886 8.68 3 Endoplasmic reticulum membrane;Cell membrane NA 2 PE1 NX_A0JD32 13278 116 4.99 14 Cell membrane NA 0 PE3 NX_A0JD36 12944 115 6.06 14 Cell membrane NA 0 PE1 NX_A0JD37 12981 113 5.5 14 Cell membrane NA 0 PE1 NX_A0JLT2 26273 244 9.83 11 Nucleus NA 0 PE1 NX_A0JNW5 164199 1464 5.89 12 Cytosol;Cell membrane;Early endosome NA 0 PE1 NX_A0JP26 65710 581 6.24 15 NA NA 0 PE2 NX_A0M8Q6 11254 106 8.5 22 Cell membrane;Secreted NA 0 PE1 NX_A0MZ66 71640 631 5.27 10 Perikaryon;Cytosol;Cell membrane;Axon;Nucleus;Filopodium;Lamellipodium;Cytoskeleton;Growth cone NA 0 PE1 NX_A0PG75 30027 271 5.12 3 NA NA 0 PE2 NX_A0PJE2 35146 317 6.84 13 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus NA 0 PE2 NX_A0PJK1 64342 596 7.55 17 Cell membrane;Endoplasmic reticulum NA 14 PE1 NX_A0PJW6 22049 202 11.03 11 Mitochondrion;Nucleus;Nucleus membrane;Membrane NA 2 PE1 NX_A0PJW8 11880 107 10 2 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_A0PJX0 21745 185 4.64 2 NA NA 0 PE1 NX_A0PJX2 23912 215 4.67 20 NA NA 0 PE1 NX_A0PJX4 25832 238 6.5 4 Cytosol;Endoplasmic reticulum membrane;Lipid droplet NA 1 PE1 NX_A0PJX8 37222 343 8.57 1 Cytosol;Nucleoplasm;Membrane NA 8 PE1 NX_A0PJY2 52038 475 9.62 7 Cytosol;Nucleus Hypogonadotropic hypogonadism 22 with or without anosmia 0 PE1 NX_A0PJZ0 18446 165 8.26 18 NA NA 0 PE5 NX_A0PJZ3 51056 443 9.79 3 Nucleoplasm;Cytoskeleton;Midbody ring;Membrane NA 1 PE1 NX_A0PK00 40246 339 9.08 12 Cytosol;Nucleolus;Nucleus inner membrane NA 6 PE1 NX_A0PK05 29891 275 6.07 10 Membrane NA 4 PE1 NX_A0PK11 25446 232 6.51 4 Membrane NA 4 PE2 NX_A0ZSE6 13039 113 8.2 3 Membrane NA 1 PE2 NX_A1A4F0 15626 135 9.28 3 Nucleoplasm;Nucleus NA 0 PE2 NX_A1A4G5 21321 178 8.59 3 Cytoplasmic vesicle;Nucleus speckle;Cytosol NA 0 PE1 NX_A1A4S6 89375 786 6.75 4 Nucleus membrane;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Perinuclear region NA 0 PE1 NX_A1A4V9 37921 331 6.29 16 Cytosol NA 0 PE1 NX_A1A4Y4 20142 181 5.23 5 Phagosome membrane;Autophagosome membrane;Phagocytic cup;Golgi apparatus membrane;Cell membrane Inflammatory bowel disease 19 0 PE1 NX_A1A519 37158 330 5 5 Nucleus NA 0 PE1 NX_A1A580 6892 65 5.26 21 NA NA 0 PE1 NX_A1A5B4 90333 782 8.45 11 Cell membrane;Golgi apparatus NA 8 PE1 NX_A1A5C7 73748 686 7.98 6 Cytosol;Cytoplasmic vesicle;Nucleoplasm;Membrane NA 10 PE1 NX_A1A5D9 56834 508 4.99 16 Cytosol;Cytoskeleton NA 0 PE1 NX_A1E959 30777 279 4.49 4 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Secreted NA 0 PE1 NX_A1IGU5 76278 675 6.47 5 Cytosol NA 0 PE1 NX_A1KXE4 20324 195 9.26 2 Axon;Cytoplasm;Perinuclear region;Nucleus;Cell membrane NA 2 PE1 NX_A1KZ92 163686 1463 7.25 8 Cytosol;Cytoplasm;Nucleoplasm;Secreted NA 0 PE1 NX_A1L020 54173 520 7.02 1 Cytosol;Cytoplasm;P-body;Nucleus NA 0 PE1 NX_A1L0T0 67868 632 8.42 19 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 1 PE1 NX_A1L157 28245 253 7.53 12 Cytoplasmic vesicle;Membrane NA 4 PE2 NX_A1L162 17672 156 3.86 2 Cytoplasmic vesicle;Nucleolus NA 0 PE1 NX_A1L167 18338 161 7.74 5 Nucleus;Cell membrane NA 0 PE1 NX_A1L168 13591 122 9.13 20 NA NA 0 PE2 NX_A1L170 29057 272 5.19 1 Nucleoplasm NA 0 PE1 NX_A1L188 7756 74 9.56 17 Mitochondrion NA 0 PE1 NX_A1L190 10601 88 4.53 22 Nucleolus;Nucleus;Golgi apparatus;Chromosome NA 0 PE1 NX_A1L1A6 20591 192 6.28 19 Nucleus;Cell junction;Membrane NA 1 PE2 NX_A1L390 134412 1219 6.13 14 Cytosol;Nucleoplasm;Cytoskeleton;Centrosome;Cell membrane NA 0 PE1 NX_A1L3X0 33356 281 9.34 5 Endoplasmic reticulum membrane NA 7 PE1 NX_A1L3X4 4983 49 8.38 16 NA NA 0 PE5 NX_A1L429 12925 117 4.23 X NA NA 0 PE1 NX_A1L443 80770 756 8.51 9 NA NA 0 PE2 NX_A1L453 35356 326 6.04 1 Secreted NA 0 PE1 NX_A1L4H1 165743 1573 5.71 19 Cytosol;Cytoplasm;Nucleoplasm;Secreted NA 0 PE1 NX_A1L4K1 85385 749 4.81 15 Perinuclear region;Sarcoplasmic reticulum;Nucleus NA 0 PE1 NX_A1L4L8 19885 177 7.94 5 NA NA 0 PE2 NX_A1L4Q6 18020 167 6.08 11 NA NA 0 PE5 NX_A1X283 101579 911 8.82 5 Cytoplasm;Podosome;Nucleus;Nucleolus Frank-Ter Haar syndrome 0 PE1 NX_A1XBS5 33431 289 5.89 8 Centriole;Cytoplasm;Mitochondrion;Nucleus;Cilium basal body NA 0 PE1 NX_A1YPR0 69017 619 5.09 18 NA NA 0 PE1 NX_A1Z1Q3 47421 425 4.59 20 Nucleolus;Nucleus;Centrosome NA 0 PE1 NX_A2A288 58078 527 8.92 6 Cytosol;Cytoplasm;P-body;Nucleus;Nucleoplasm NA 0 PE1 NX_A2A2V5 11458 107 4.33 13 Cytoplasmic vesicle;Membrane NA 1 PE2 NX_A2A2Y4 68772 597 5.97 9 Nucleoplasm;Cell membrane;Golgi apparatus;Membrane NA 1 PE1 NX_A2A2Z9 118231 1011 8.35 9 NA NA 0 PE1 NX_A2A368 36178 324 5.25 X NA NA 0 PE4 NX_A2A3K4 84457 754 7.35 9 Nucleoplasm NA 0 PE1 NX_A2A3L6 63396 582 9.37 1 Nucleoplasm NA 0 PE4 NX_A2A3N6 95048 862 5.46 10 Cytoplasm NA 0 PE5 NX_A2AJT9 83871 711 9.71 X Mitochondrion;Nucleoplasm NA 0 PE1 NX_A2CJ06 65320 578 9.18 2 Cell membrane NA 0 PE2 NX_A2IDD5 48521 438 8.27 16 Centriole;Perinuclear region;Sarcoplasmic reticulum;Sarcolemma Myopathy, centronuclear, 4 0 PE1 NX_A2NJV5 13085 120 6.7 2 Cell membrane;Secreted NA 0 PE1 NX_A2PYH4 162610 1435 6.66 1 Cytoplasmic vesicle;Golgi apparatus Premature ovarian failure 9 0 PE1 NX_A2RRD8 59326 509 9.16 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_A2RRH5 90038 827 8.25 6 Nucleoplasm NA 0 PE1 NX_A2RRL7 11520 107 5.41 7 Membrane NA 1 PE2 NX_A2RRP1 268571 2371 5.65 2 Endoplasmic reticulum membrane;Nucleolus;Nucleus membrane;Golgi apparatus;Cytoplasm;Endoplasmic reticulum Infantile liver failure syndrome 2;Short stature, optic nerve atrophy, and Pelger-Huet anomaly 0 PE1 NX_A2RTX5 92646 802 5.74 15 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_A2RTY3 65681 570 9.32 17 NA NA 0 PE1 NX_A2RU14 12459 115 6.7 11 Cytosol;Cilium;Cell membrane;Membrane NA 3 PE1 NX_A2RU30 59213 521 5.48 12 Endoplasmic reticulum membrane;Cytoplasm NA 0 PE1 NX_A2RU37 13369 121 10.58 9 NA NA 0 PE2 NX_A2RU48 24877 225 8.32 12 Membrane NA 1 PE1 NX_A2RU49 41933 373 6.36 15 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_A2RU54 29598 273 9.16 10 Nucleus NA 0 PE1 NX_A2RU67 67039 622 4.88 12 Endoplasmic reticulum;Membrane NA 1 PE1 NX_A2RUB1 107559 952 6.68 17 Cytoplasm;Nucleus;Cell junction NA 0 PE1 NX_A2RUB6 109411 948 8.47 3 Cell junction;Photoreceptor outer segment;Midbody ring;Cilium;Centriolar satellite;Photoreceptor inner segment;Microtubule organizing center;Centrosome;Cilium basal body NA 0 PE1 NX_A2RUC4 36548 315 7.1 2 Nucleus NA 0 PE1 NX_A2RUG3 12988 117 8.91 Y Membrane NA 3 PE2 NX_A2RUH7 38733 354 8.65 1 NA NA 0 PE1 NX_A2RUQ5 17761 167 10.63 17 NA NA 0 PE2 NX_A2RUR9 165125 1427 5.26 17 NA NA 0 PE2 NX_A2RUS2 135890 1198 6.63 8 Cytosol;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 NX_A2RUT3 17572 159 10.06 3 Membrane NA 1 PE1 NX_A2RUU4 14057 121 8.92 6 Secreted NA 0 PE2 NX_A2VCK2 37665 349 9 1 NA NA 0 PE1 NX_A2VDF0 16765 154 5.49 10 NA NA 0 PE1 NX_A2VDJ0 179339 1609 6.43 4 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Endoplasmic reticulum;Cell membrane NA 1 PE1 NX_A2VEC9 547841 5150 5.66 7 Extracellular space NA 0 PE1 NX_A3KFT3 35112 312 8.56 1 Cell membrane NA 7 PE3 NX_A3KMH1 214824 1905 7.01 13 Mitochondrion;Cytoplasmic vesicle;Lipid droplet;Peroxisome NA 0 PE1 NX_A3KN83 154312 1393 7.96 12 Nucleoplasm NA 0 PE1 NX_A3QJZ6 55489 481 8.4 1 NA NA 0 PE3 NX_A3QJZ7 55206 478 8.58 1 NA NA 0 PE3 NX_A4D0S4 193540 1761 5.93 7 Cytosol;Basement membrane NA 0 PE1 NX_A4D0T2 13234 115 9.3 7 Membrane NA 1 PE4 NX_A4D0T7 6102 59 5.93 7 Membrane NA 1 PE2 NX_A4D0V7 117491 1026 8.41 7 Nucleus;Endoplasmic reticulum NA 0 PE1 NX_A4D0Y5 10046 90 6.55 7 NA NA 0 PE4 NX_A4D126 49873 451 5.86 7 Cytosol;Nucleolus;Nucleus Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7;Muscular dystrophy-dystroglycanopathy limb-girdle C7 0 PE1 NX_A4D161 33083 298 6.33 7 Cytosol NA 0 PE1 NX_A4D174 19096 169 9.51 7 NA NA 0 PE2 NX_A4D1B5 97802 854 6.38 7 Cytoplasmic vesicle;trans-Golgi network NA 0 PE1 NX_A4D1E1 152573 1349 8.84 7 NA NA 0 PE2 NX_A4D1E9 42933 387 9.12 7 Nucleolus;Chromosome NA 0 PE1 NX_A4D1F6 98035 860 7.24 7 NA NA 0 PE1 NX_A4D1N5 16741 150 7.87 7 NA NA 0 PE2 NX_A4D1P6 83344 747 6.15 7 Early endosome membrane;Late endosome membrane NA 0 PE1 NX_A4D1S0 42851 409 5.63 7 Membrane NA 1 PE1 NX_A4D1S5 24400 217 6.06 7 Cell membrane NA 0 PE1 NX_A4D1T9 26445 235 9.05 7 Acrosome;Secreted NA 0 PE1 NX_A4D1U4 51446 455 5.18 7 Golgi apparatus NA 0 PE1 NX_A4D1Z8 15999 144 6.28 7 NA NA 0 PE2 NX_A4D250 19503 179 4.86 7 NA NA 0 PE2 NX_A4D256 51614 447 8.33 7 Endoplasmic reticulum membrane NA 1 PE1 NX_A4D263 49672 438 8.67 7 NA NA 0 PE1 NX_A4D2B0 27202 266 4.73 7 NA NA 0 PE1 NX_A4D2B8 47508 440 8.75 7 NA NA 0 PE5 NX_A4D2G3 34606 310 8.65 7 Cell membrane NA 7 PE2 NX_A4D2H0 87868 777 5.15 7 Membrane NA 1 PE2 NX_A4D2P6 132276 1211 7.11 7 Postsynaptic cell membrane NA 0 PE1 NX_A4FU01 79545 709 6.59 1 Centrosome NA 0 PE1 NX_A4FU28 87953 777 5.22 6 Membrane NA 1 PE2 NX_A4FU49 70519 640 5.6 1 Nucleus;Cell membrane NA 0 PE1 NX_A4FU69 173404 1503 5.58 17 NA NA 0 PE1 NX_A4GXA9 41178 379 5.97 16 Nucleus NA 0 PE1 NX_A4IF30 57809 521 9 14 Nucleolus;Membrane NA 10 PE2 NX_A4QMS7 16991 147 7.02 5 NA NA 0 PE1 NX_A4QN01 15288 128 9.18 10 NA NA 0 PE2 NX_A4QPB2 28483 252 5.92 22 Nucleoplasm NA 0 PE2 NX_A4QPH2 66944 592 6.68 22 NA NA 0 PE5 NX_A4UGR9 382300 3374 5.99 2 Nucleoplasm;Cell junction;Cell membrane NA 0 PE1 NX_A5A3E0 121445 1075 5.82 2 Cell cortex NA 0 PE1 NX_A5D6W6 32207 292 9.86 14 Endoplasmic reticulum membrane NA 6 PE1 NX_A5D8T8 49602 446 8.47 16 Endosome;Endoplasmic reticulum;Golgi apparatus;Secreted NA 0 PE1 NX_A5D8V6 38659 355 5.19 11 Cytoplasmic vesicle;Late endosome membrane;Nucleus NA 0 PE1 NX_A5D8V7 69140 595 9.11 19 Centriole;Nucleoplasm;Cilium;Cilium axoneme;Cilium basal body Ciliary dyskinesia, primary, 30 0 PE1 NX_A5D8W1 105883 941 6.81 7 Flagellum;Cilium Spermatogenic failure 24 0 PE1 NX_A5LHX3 32530 300 5.99 14 Cytoplasm;Nucleus NA 0 PE1 NX_A5PKW4 109543 1024 6.43 10 Cytosol;Nucleoplasm;Cleavage furrow;Cell membrane;Ruffle membrane NA 0 PE1 NX_A5PL33 107498 1030 8.09 7 Cytosol;Nucleus NA 0 PE1 NX_A5PLK6 125688 1076 9.15 1 Membrane NA 1 PE1 NX_A5PLL1 56414 514 7.61 5 Cytosol;Cytoplasm;Mitochondrion;Nucleus;Nucleoplasm NA 0 PE1 NX_A5PLL7 31135 270 6.33 20 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 3 PE1 NX_A5PLN7 82698 773 9.53 4 Golgi apparatus NA 0 PE1 NX_A5PLN9 46524 417 5.4 5 Nucleus;Cell membrane NA 0 PE1 NX_A5X5Y0 51438 456 6.46 3 Cell membrane NA 4 PE1 NX_A5YKK6 266939 2376 6.65 16 Cytosol;P-body;Nucleus NA 0 PE1 NX_A5YM69 53287 484 4.27 7 NA NA 0 PE1 NX_A5YM72 88484 827 5.83 11 NA NA 0 PE1 NX_A6BM72 110844 1044 5.78 15 Basolateral cell membrane;Cell membrane NA 1 PE1 NX_A6H8M9 85827 788 5.24 3 Membrane NA 1 PE1 NX_A6H8Y1 293885 2624 5.06 5 Nucleus NA 0 PE1 NX_A6H8Z2 45394 402 5.37 9 NA NA 0 PE1 NX_A6NC05 15764 138 9.26 5 Mitochondrion NA 0 PE1 NX_A6NC42 13498 116 9.26 6 Cytoplasm NA 0 PE1 NX_A6NC51 25701 233 9.05 19 Endosome membrane;Autophagosome membrane;Cell membrane NA 6 PE2 NX_A6NC57 106446 917 6.25 18 NA NA 0 PE2 NX_A6NC62 12297 111 9.05 7 NA NA 0 PE5 NX_A6NC78 71330 632 7.14 15 Golgi stack membrane NA 0 PE5 NX_A6NC86 21926 204 8.37 19 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_A6NC97 41969 362 8.59 3 Membrane NA 1 PE5 NX_A6NC98 164809 1476 5.09 11 Golgi apparatus;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Microtubule organizing center;Cytosol;Membrane;Centrosome NA 0 PE1 NX_A6NCC3 71536 632 5.98 15 NA NA 0 PE1 NX_A6NCE7 14628 125 8.73 12 Autophagosome membrane;Cytoskeleton;Endomembrane system NA 0 PE2 NX_A6NCF5 57810 533 6.98 14 NA NA 0 PE2 NX_A6NCF6 37899 341 5.98 X NA NA 0 PE5 NX_A6NCI4 134020 1184 8.74 16 Secreted NA 0 PE2 NX_A6NCI5 10419 91 6.94 1 Membrane NA 1 PE5 NX_A6NCI8 100170 922 9.12 2 NA NA 0 PE2 NX_A6NCJ1 24176 209 9.14 19 Cytosol;Endoplasmic reticulum;Cell membrane NA 0 PE1 NX_A6NCK2 52310 446 8.07 2 NA NA 0 PE3 NX_A6NCL1 37887 334 5.79 3 Nucleus NA 0 PE1 NX_A6NCL2 17834 159 8.55 12 NA NA 0 PE1 NX_A6NCL7 53975 494 8.27 5 Mitochondrion NA 0 PE1 NX_A6NCM1 95061 818 9.22 7 NA NA 0 PE1 NX_A6NCN2 29117 255 5.64 12 NA NA 0 PE5 NX_A6NCN8 35334 305 10.17 12 NA NA 0 PE1 NX_A6NCQ9 23767 220 9.08 17 Membrane NA 1 PE1 NX_A6NCS4 32121 301 9.91 8 Nucleus Conotruncal heart malformations 0 PE1 NX_A6NCS6 30481 295 8.73 2 Nucleus;Cell membrane NA 0 PE1 NX_A6NCV1 35253 312 8.95 12 Cell membrane NA 7 PE2 NX_A6NCW0 59536 530 7.83 8 Nucleus;Endoplasmic reticulum NA 0 PE3 NX_A6NCW3 18250 169 7.7 1 NA NA 0 PE5 NX_A6NCW7 59636 530 7.1 8 Nucleus;Endoplasmic reticulum NA 0 PE3 NX_A6ND01 28672 250 5.88 11 Cell membrane NA 0 PE1 NX_A6ND36 90835 823 5.97 17 Cytosol;Nucleus NA 0 PE1 NX_A6ND48 35175 311 8.89 1 Cell membrane NA 7 PE2 NX_A6ND91 29946 283 6.79 19 NA NA 0 PE1 NX_A6NDA9 60168 550 5.65 10 Membrane NA 1 PE1 NX_A6NDB9 71695 673 4.53 19 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_A6NDD5 25796 238 4.55 14 cis-Golgi network;Membrane NA 2 PE2 NX_A6NDE4 55835 496 9.96 Y Nucleus NA 0 PE2 NX_A6NDE8 12924 117 4.33 X NA NA 0 PE2 NX_A6NDG6 34006 321 5.85 16 Nucleus NA 0 PE1 NX_A6NDH6 35352 313 8.77 3 Cell membrane NA 7 PE3 NX_A6NDI0 52747 452 7.06 11 NA NA 0 PE2 NX_A6NDK9 79884 693 5.31 15 NA NA 0 PE1 NX_A6NDL7 31188 271 5.73 13 NA NA 0 PE5 NX_A6NDL8 35296 312 9.01 12 Cell membrane NA 7 PE3 NX_A6NDN3 79913 693 5.4 15 NA NA 0 PE3 NX_A6NDN8 10909 102 8.84 11 NA NA 0 PE4 NX_A6NDP7 32967 307 8.82 17 Membrane NA 7 PE2 NX_A6NDR6 30204 274 4.84 17 Nucleus NA 0 PE5 NX_A6NDS4 62320 549 9.25 17 Cell membrane NA 0 PE2 NX_A6NDU8 33620 294 5.15 5 Cytosol;Nucleoplasm NA 0 PE1 NX_A6NDV4 51941 472 8.35 9 Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleus;Cell membrane;Mitochondrion NA 7 PE1 NX_A6NDX4 13671 124 8.96 15 Membrane NA 1 PE5 NX_A6NDX5 83235 716 9.69 20 Nucleus NA 0 PE5 NX_A6NDY0 30386 278 4.84 16 Cytoplasm NA 0 PE2 NX_A6NDY2 49635 464 9.76 8 NA NA 0 PE5 NX_A6NDZ8 23121 208 11.45 19 NA NA 0 PE5 NX_A6NE01 262758 2351 8.66 12 NA NA 0 PE1 NX_A6NE02 52471 478 8.91 17 Secreted NA 0 PE1 NX_A6NE21 49680 464 9.93 8 NA NA 0 PE5 NX_A6NE52 180307 1622 7.56 8 NA NA 0 PE1 NX_A6NE82 23095 208 11.45 19 NA NA 0 PE5 NX_A6NEC2 53747 478 5.17 17 NA NA 0 PE1 NX_A6NED2 40079 376 5.18 15 Cytosol;Cell membrane;Chromosome NA 0 PE1 NX_A6NEE1 59203 506 6.1 14 NA NA 0 PE1 NX_A6NEF3 67563 574 4.81 15 NA NA 0 PE3 NX_A6NEH6 25168 219 5.51 2 Membrane NA 2 PE1 NX_A6NEH8 20902 195 11.72 10 NA NA 0 PE5 NX_A6NEK1 38383 342 6.22 19 NA NA 0 PE1 NX_A6NEL2 85742 793 9.64 4 Nucleolus NA 0 PE1 NX_A6NEL3 18478 165 8.19 11 NA NA 0 PE5 NX_A6NEM1 49193 432 5.08 15 NA NA 0 PE2 NX_A6NEN9 21305 183 10.33 X NA NA 0 PE1 NX_A6NEQ0 55759 496 9.95 Y Nucleus NA 0 PE2 NX_A6NEQ2 42657 426 5.39 11 Mitochondrion;Nucleus membrane NA 0 PE2 NX_A6NER0 62185 549 9.24 17 Cell membrane NA 0 PE2 NX_A6NER3 12896 117 4.22 X NA NA 0 PE1 NX_A6NES4 189561 1674 6.23 2 Cytosol NA 0 PE1 NX_A6NET4 36711 321 8.32 3 Cell membrane NA 7 PE3 NX_A6NEV1 28155 266 4.57 3 NA NA 0 PE3 NX_A6NEW6 49759 464 9.95 8 NA NA 0 PE5 NX_A6NEY3 55643 463 4.81 15 NA NA 0 PE5 NX_A6NEY8 18658 169 5.82 2 NA NA 0 PE5 NX_A6NF01 83015 834 9.95 7 Nuclear pore complex NA 0 PE5 NX_A6NF34 70629 631 8.78 10 Membrane NA 1 PE1 NX_A6NF36 17536 153 6.19 17 NA NA 0 PE1 NX_A6NF83 11356 97 10.5 7 Nucleus NA 0 PE1 NX_A6NF89 35963 314 8.98 12 Cell membrane NA 7 PE3 NX_A6NFA0 37613 338 8.24 9 Membrane NA 1 PE1 NX_A6NFA1 57421 517 6.19 1 Cell membrane NA 1 PE1 NX_A6NFC5 23360 223 5.56 17 Endoplasmic reticulum;Membrane NA 3 PE2 NX_A6NFC9 35528 320 6.35 1 Cell membrane NA 4 PE5 NX_A6NFD8 26913 242 9.39 4 Nucleus NA 0 PE2 NX_A6NFE2 39487 343 4.74 12 Membrane NA 1 PE2 NX_A6NFE3 14721 127 5.28 7 NA NA 0 PE1 NX_A6NFF2 12045 107 6.13 X NA NA 0 PE5 NX_A6NFH5 15565 140 7.71 8 NA NA 0 PE1 NX_A6NFI3 108437 1004 5.18 7 Nucleus NA 0 PE1 NX_A6NFK2 28284 248 6.26 5 Stereocilium Deafness, autosomal recessive, 101 0 PE3 NX_A6NFN3 33873 312 6.71 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_A6NFN9 56600 502 9.29 3 NA NA 0 PE2 NX_A6NFQ2 100906 919 6.75 7 Cell junction;Cell membrane NA 0 PE1 NX_A6NFQ7 21648 191 9.55 19 Nucleus NA 0 PE3 NX_A6NFR6 39250 353 9.54 5 Membrane NA 1 PE1 NX_A6NFT4 35914 308 7.01 12 Cytoplasmic vesicle;Nucleolus;Nucleus;Cilium axoneme NA 0 PE1 NX_A6NFU0 47349 413 8.23 17 Membrane NA 1 PE1 NX_A6NFU8 21631 196 8.26 15 NA NA 0 PE2 NX_A6NFX1 53743 504 9.1 2 Cell membrane NA 10 PE1 NX_A6NFY4 48664 417 8.63 2 Nucleoplasm;Nucleus inner membrane NA 5 PE1 NX_A6NFY7 12806 115 11.39 19 Mitochondrion;Mitochondrion matrix Mitochondrial complex II deficiency 0 PE1 NX_A6NFZ4 11258 105 8.08 10 Secreted NA 0 PE1 NX_A6NG13 43743 374 9.62 4 Endoplasmic reticulum membrane;Golgi apparatus membrane NA 1 PE2 NX_A6NGA9 31353 273 8.84 15 Membrane NA 4 PE2 NX_A6NGB0 39292 347 8.72 22 Membrane NA 1 PE3 NX_A6NGB7 30293 291 8.62 19 Nucleus membrane;Membrane NA 4 PE1 NX_A6NGB9 49458 483 10.16 7 Mitochondrion;Cytoplasm NA 0 PE1 NX_A6NGC4 28733 264 10.14 17 Cytoplasmic vesicle;Nucleolus;Membrane NA 6 PE1 NX_A6NGD5 55729 496 8.32 19 Nucleus NA 0 PE5 NX_A6NGE4 67373 600 4.75 X NA NA 0 PE1 NX_A6NGE7 19130 173 5.78 13 Peroxisome NA 0 PE5 NX_A6NGG3 8520 77 9.6 9 NA NA 0 PE4 NX_A6NGG8 139655 1288 8.4 2 Photoreceptor inner segment;Photoreceptor outer segment Retinitis pigmentosa 54 0 PE1 NX_A6NGH7 38277 325 5.35 X NA NA 0 PE1 NX_A6NGH8 46141 418 9.1 7 NA NA 0 PE2 NX_A6NGJ6 51566 449 5.01 11 NA NA 0 PE2 NX_A6NGK3 12651 116 4.3 X NA NA 0 PE1 NX_A6NGN4 55354 478 8.95 1 NA NA 0 PE3 NX_A6NGN9 36795 336 6.96 19 Nucleus;Secreted NA 0 PE1 NX_A6NGQ2 17170 149 6.59 6 Cytoplasm NA 0 PE1 NX_A6NGR9 77186 719 9.88 8 Nucleus NA 0 PE1 NX_A6NGS2 14477 130 4.26 19 Nucleoplasm;Cytosol NA 0 PE1 NX_A6NGU5 61502 568 6.68 22 Membrane NA 1 PE5 NX_A6NGU7 7222 62 10.44 X NA NA 0 PE5 NX_A6NGW2 192437 1772 5.26 15 Secreted NA 0 PE5 NX_A6NGY1 30798 282 7.09 3 Nucleus NA 0 PE3 NX_A6NGY3 17908 159 10.21 5 NA NA 0 PE1 NX_A6NGY5 35849 319 8.3 11 Cell membrane NA 7 PE3 NX_A6NGZ8 10777 99 8.46 X Cell membrane NA 1 PE3 NX_A6NH00 34659 312 8.66 1 Cell membrane NA 7 PE3 NX_A6NH11 31642 291 10.19 17 Cytoplasmic vesicle NA 0 PE1 NX_A6NH13 15587 148 9.94 10 NA NA 0 PE2 NX_A6NH21 56870 518 8.75 15 Membrane NA 10 PE2 NX_A6NH52 24111 213 6.51 16 Cytoplasmic vesicle;Membrane NA 4 PE2 NX_A6NH57 20591 179 5.44 17 NA NA 0 PE3 NX_A6NHA9 34533 309 8.19 11 Cell membrane NA 7 PE3 NX_A6NHC0 79144 703 5.1 1 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus membrane;Golgi apparatus NA 0 PE1 NX_A6NHG4 14195 134 5.89 22 Cytoplasm NA 0 PE2 NX_A6NHG9 35099 310 8.72 3 Cell membrane NA 7 PE2 NX_A6NHJ4 73757 632 9.46 3 Nucleolus;Nucleus NA 0 PE1 NX_A6NHL2 49909 446 5.68 10 Cytoskeleton NA 0 PE1 NX_A6NHM9 56320 499 4.65 7 NA NA 0 PE5 NX_A6NHN0 49422 477 8.6 3 Extracellular matrix NA 0 PE3 NX_A6NHN6 51267 443 10.5 16 Secreted NA 0 PE2 NX_A6NHP3 48290 402 9.78 7 NA NA 0 PE3 NX_A6NHQ2 34803 334 10.35 5 Nucleolus NA 0 PE1 NX_A6NHQ4 39322 379 9.77 17 Cytosol;Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_A6NHR8 46757 397 9.11 X NA NA 0 PE5 NX_A6NHR9 226374 2005 6.95 18 Nucleoplasm;Nucleus;Chromosome Bosma arhinia microphthalmia syndrome;Facioscapulohumeral muscular dystrophy 2 0 PE1 NX_A6NHS1 10211 94 4.1 11 NA NA 0 PE5 NX_A6NHS7 37879 340 8.33 12 Membrane NA 1 PE3 NX_A6NHT5 37825 357 7.85 10 Nucleus;Microtubule organizing center NA 0 PE1 NX_A6NHX0 36056 329 5.02 7 Cytosol NA 0 PE1 NX_A6NHY2 59088 528 8.33 5 NA NA 0 PE4 NX_A6NHY6 7904 69 8.42 9 NA NA 0 PE4 NX_A6NHZ5 56758 514 6.74 5 NA NA 0 PE1 NX_A6NI03 51557 449 5.1 11 NA NA 0 PE5 NX_A6NI15 20778 193 9.03 2 Nucleus NA 0 PE3 NX_A6NI28 98569 874 8.18 11 Cytosol;Nucleus speckle NA 0 PE1 NX_A6NI47 57067 508 6.64 14 NA NA 0 PE3 NX_A6NI56 76013 674 8.62 16 Golgi apparatus;Cell membrane;Early endosome NA 0 PE1 NX_A6NI61 24699 221 8.98 9 Cell membrane Carey-Fineman-Ziter syndrome 6 PE1 NX_A6NI72 44817 391 9.2 7 Cytoplasm NA 0 PE5 NX_A6NI73 32755 299 6.5 19 Cell membrane;Secreted NA 1 PE1 NX_A6NI79 34796 296 5.57 5 Cell membrane;Cytoskeleton;Midbody;Golgi apparatus;Spindle NA 0 PE1 NX_A6NI86 60902 522 4.83 15 NA NA 0 PE3 NX_A6NI87 27343 242 10.65 5 NA NA 0 PE1 NX_A6NIE6 38035 340 5.02 16 NA NA 0 PE5 NX_A6NIE9 34063 313 6.58 16 Secreted NA 0 PE5 NX_A6NIH7 28137 251 5.45 12 Cilium NA 0 PE1 NX_A6NIJ5 50026 464 9.93 8 NA NA 0 PE5 NX_A6NIJ9 35468 312 9.17 12 Cell membrane NA 7 PE3 NX_A6NIK2 32714 292 6.88 11 Nucleoplasm;Nucleolus NA 0 PE2 NX_A6NIL9 12312 109 8.89 16 Membrane NA 1 PE5 NX_A6NIM6 65263 579 7.77 12 Membrane NA 11 PE1 NX_A6NIN4 21006 190 9.23 17 NA NA 0 PE2 NX_A6NIR3 75492 686 6.28 10 NA NA 0 PE2 NX_A6NIU2 8470 74 4.97 21 NA NA 0 PE5 NX_A6NIV6 63977 560 8.43 3 NA NA 0 PE1 NX_A6NIX2 45124 430 8.53 19 Adherens junction;P-body;Nucleus NA 0 PE1 NX_A6NIY4 47997 402 9.98 7 NA NA 0 PE3 NX_A6NIZ1 20925 184 5.37 5 Cytosol;Cell membrane NA 0 PE2 NX_A6NJ08 22976 208 11.47 19 NA NA 0 PE5 NX_A6NJ46 28948 265 9.3 8 Nucleus NA 0 PE2 NX_A6NJ64 45575 397 9.95 16 Nucleus NA 0 PE5 NX_A6NJ69 5937 53 9.13 5 Cytoplasmic vesicle;Secreted NA 0 PE2 NX_A6NJ78 46121 407 8.8 11 Cytoskeleton;Cell membrane;Golgi apparatus NA 0 PE1 NX_A6NJ88 69022 616 5.68 X NA NA 0 PE5 NX_A6NJB7 38716 356 10.48 19 Nucleolus;Nucleus NA 0 PE1 NX_A6NJG2 33803 315 9.62 X NA NA 0 PE1 NX_A6NJG6 35617 315 6.84 3 Nucleus NA 0 PE2 NX_A6NJI1 13172 115 11.47 11 NA NA 0 PE2 NX_A6NJI9 33656 287 8.92 7 NA NA 0 PE1 NX_A6NJJ6 39779 358 4.78 19 NA NA 0 PE3 NX_A6NJL1 55826 495 8.88 19 Nucleus NA 0 PE1 NX_A6NJQ4 49661 464 9.91 8 NA NA 0 PE5 NX_A6NJR5 34699 290 5.99 7 NA NA 0 PE5 NX_A6NJT0 53690 531 6.74 7 Nucleoplasm;Nucleus NA 0 PE1 NX_A6NJU9 125964 1138 9.9 16 Membrane NA 1 PE3 NX_A6NJV1 23421 201 10 2 Cytoplasmic vesicle;Nucleus membrane NA 0 PE1 NX_A6NJW4 29314 275 6.15 17 Membrane NA 1 PE2 NX_A6NJW9 23768 211 9.88 2 Cell membrane NA 1 PE5 NX_A6NJY1 30828 282 7.66 Y Membrane NA 7 PE5 NX_A6NJY4 8713 79 4.43 17 Membrane NA 2 PE5 NX_A6NJZ3 35198 312 8.87 12 Cell membrane NA 7 PE2 NX_A6NJZ7 180950 1639 6.34 22 Cytoskeleton NA 0 PE1 NX_A6NK02 53678 468 7.79 4 NA NA 0 PE5 NX_A6NK06 52628 481 7.01 13 Mitochondrion NA 0 PE1 NX_A6NK44 18322 160 7.7 X Mitochondrion NA 0 PE1 NX_A6NK53 76861 670 8.61 19 Nucleoplasm;Nucleus NA 0 PE2 NX_A6NK58 25195 231 8.63 11 Mitochondrion;Cytoplasmic vesicle;Centrosome Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 0 PE1 NX_A6NK59 65331 587 6.24 3 NA NA 0 PE2 NX_A6NK75 65799 572 9.33 19 Nucleus NA 0 PE1 NX_A6NK89 56900 507 5.29 11 Cytosol;Cytoplasmic vesicle;Centrosome;Spindle pole NA 0 PE1 NX_A6NK97 60459 555 8.63 11 Membrane NA 11 PE2 NX_A6NKB5 237277 2137 6.29 1 Endoplasmic reticulum;Membrane NA 15 PE2 NX_A6NKC0 49804 464 9.88 8 NA NA 0 PE5 NX_A6NKC9 49807 451 5.99 15 NA NA 0 PE4 NX_A6NKD2 35100 308 5.3 Y NA NA 0 PE2 NX_A6NKD9 45210 419 6.48 14 Nucleus speckle;Cell junction;Tight junction NA 0 PE1 NX_A6NKF1 43553 404 9.04 11 Cytosol;Spindle;Centrosome NA 0 PE1 NX_A6NKF2 44073 412 5.34 9 Nucleus NA 0 PE3 NX_A6NKF7 17097 163 8.53 1 Membrane NA 2 PE1 NX_A6NKG5 155048 1358 5.09 14 Cytosol;Membrane NA 2 PE1 NX_A6NKH3 10583 93 10.22 11 NA NA 0 PE5 NX_A6NKK0 35387 313 8.8 3 Cell membrane NA 7 PE2 NX_A6NKL6 63928 621 10.1 18 Cytoskeleton;Membrane NA 2 PE1 NX_A6NKN8 7476 68 6.28 1 Mitochondrion;Nucleoplasm NA 0 PE1 NX_A6NKP2 46869 422 9.66 16 NA NA 0 PE3 NX_A6NKQ9 20468 187 9.02 19 Secreted NA 0 PE2 NX_A6NKT7 197487 1758 5.95 2 NA NA 0 PE1 NX_A6NKU9 63895 549 6.06 7 NA NA 0 PE2 NX_A6NKW6 17663 160 5.88 5 Membrane NA 1 PE3 NX_A6NKX1 13778 122 10.05 X NA NA 0 PE3 NX_A6NKX4 58815 556 9.89 16 Membrane NA 12 PE2 NX_A6NL05 18299 159 9.63 9 Membrane NA 1 PE3 NX_A6NL08 35372 312 9.29 12 Cell membrane NA 7 PE3 NX_A6NL26 34174 309 6.73 11 Cell membrane NA 7 PE3 NX_A6NL46 37797 340 10.95 6 NA NA 0 PE3 NX_A6NL82 15996 134 8.67 1 NA NA 0 PE1 NX_A6NL88 56214 538 10.06 19 Postsynaptic density NA 1 PE1 NX_A6NL99 37357 342 7.83 9 Membrane NA 8 PE5 NX_A6NLC5 27769 250 4.85 3 Cytosol NA 0 PE1 NX_A6NLC8 21962 198 5.72 5 NA NA 0 PE1 NX_A6NLE4 20025 172 4.76 5 Cell membrane NA 1 PE2 NX_A6NLF2 59772 546 9.86 18 Nucleus NA 0 PE3 NX_A6NLI5 51540 450 5.3 11 NA NA 0 PE3 NX_A6NLJ0 38769 364 11.07 15 Nucleus NA 0 PE1 NX_A6NLP5 20896 189 5.02 11 Nucleoplasm NA 0 PE1 NX_A6NLU0 32238 287 7.89 19 Cytoplasm;Nucleus NA 0 PE1 NX_A6NLU5 30297 285 7.88 19 Membrane NA 1 PE1 NX_A6NLW8 23817 204 9.51 19 Nucleus NA 0 PE3 NX_A6NLX3 27806 237 4.93 17 NA NA 0 PE2 NX_A6NLX4 15516 147 4.19 9 Membrane NA 1 PE1 NX_A6NM03 35270 316 8.79 11 Cell membrane NA 7 PE2 NX_A6NM10 31475 295 8.18 2 Membrane NA 6 PE2 NX_A6NM11 188393 1700 5.33 17 Membrane NA 1 PE1 NX_A6NM28 45791 416 10.23 X Nucleus NA 0 PE1 NX_A6NM36 34034 301 9.48 18 NA NA 0 PE4 NX_A6NM43 59514 557 5.91 7 Cytoplasm NA 0 PE5 NX_A6NM45 24421 220 4.87 4 Cell membrane;Tight junction NA 4 PE5 NX_A6NM62 140742 1247 8.11 1 Membrane NA 1 PE4 NX_A6NM66 11668 108 8.23 21 NA NA 0 PE4 NX_A6NM76 35119 312 9.04 12 Cell membrane NA 7 PE3 NX_A6NMA1 12326 111 3.47 X NA NA 0 PE1 NX_A6NMB1 52992 481 9.28 19 Membrane NA 1 PE2 NX_A6NMB9 66603 653 6.3 12 NA NA 0 PE5 NX_A6NMD0 24599 228 6.59 11 Cell membrane NA 2 PE1 NX_A6NMD2 71775 632 8.5 15 NA NA 0 PE3 NX_A6NMK7 20727 179 8.93 17 NA NA 0 PE2 NX_A6NMK8 59204 535 8.39 5 NA NA 0 PE1 NX_A6NML5 21425 194 8.15 3 Nucleolus;Endoplasmic reticulum;Membrane NA 5 PE2 NX_A6NMN3 32092 283 4.67 10 Acrosome outer membrane;Acrosome NA 0 PE1 NX_A6NMS3 36711 321 8.44 3 Cell membrane NA 7 PE3 NX_A6NMS7 188258 1700 5.32 17 Membrane NA 1 PE1 NX_A6NMT0 37283 343 9.54 11 Nucleus NA 0 PE3 NX_A6NMU1 34901 304 8.28 11 Cell membrane NA 7 PE2 NX_A6NMX2 27596 242 6.68 5 NA NA 0 PE1 NX_A6NMY6 38659 339 6.49 9 Basement membrane;Melanosome NA 0 PE5 NX_A6NMZ2 16468 147 8.43 3 Cilium NA 0 PE1 NX_A6NMZ5 35341 311 7.99 11 Cell membrane NA 7 PE3 NX_A6NMZ7 247173 2263 6.44 3 Extracellular matrix NA 0 PE1 NX_A6NN06 10596 94 11.9 9 NA NA 0 PE5 NX_A6NN14 145022 1252 9.58 19 Nucleus NA 0 PE2 NX_A6NN73 67128 597 8.72 15 NA NA 0 PE3 NX_A6NN90 63239 582 5.44 2 Nucleolus;Nucleus NA 0 PE1 NX_A6NN92 23755 205 8.68 6 Cell membrane NA 4 PE5 NX_A6NNA2 65249 597 11.68 7 Cytoskeleton;Cell membrane NA 0 PE2 NX_A6NNA5 28672 263 8.74 10 Cytosol;Nucleolus;Nucleus NA 0 PE3 NX_A6NNB3 14378 132 8.48 11 Cell membrane Osteogenesis imperfecta 5 2 PE1 NX_A6NNC1 94058 897 10.28 5 Membrane NA 1 PE5 NX_A6NND4 35503 320 6.21 11 Cell membrane NA 7 PE2 NX_A6NNE9 43878 402 6.47 5 Cytoplasmic vesicle membrane NA 2 PE1 NX_A6NNF4 85539 738 9.27 19 Nucleus NA 0 PE1 NX_A6NNH2 49646 459 9.97 19 NA NA 0 PE1 NX_A6NNJ1 49738 464 9.91 8 NA NA 0 PE5 NX_A6NNL0 93984 878 8.12 10 NA NA 0 PE3 NX_A6NNL5 18091 157 9.9 15 Cytosol;Cytoplasmic vesicle;Nucleolus;Secreted NA 0 PE1 NX_A6NNM3 180952 1639 6.34 22 Cytoskeleton NA 0 PE2 NX_A6NNM8 93645 815 9.12 15 NA NA 0 PE1 NX_A6NNN8 46731 435 7.42 16 Membrane Foveal hypoplasia 2 11 PE1 NX_A6NNP5 25253 214 9.33 13 NA NA 0 PE2 NX_A6NNS2 34878 312 8.72 17 Secreted NA 0 PE1 NX_A6NNT2 125041 1141 6.58 16 NA NA 0 PE1 NX_A6NNV3 37499 312 8.38 7 NA NA 0 PE5 NX_A6NNW6 68465 625 5.64 10 NA NA 0 PE1 NX_A6NNX1 10810 92 9.57 1 Cytosol;Nucleoplasm NA 0 PE1 NX_A6NNY8 49630 438 6.75 X Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytosol Mental retardation, X-linked 105 0 PE1 NX_A6NNZ2 49573 444 4.75 18 Cytoskeleton NA 0 PE1 NX_A6NP11 57006 495 9.34 7 Nucleus NA 0 PE2 NX_A6NP61 36010 321 9.27 13 NA NA 0 PE1 NX_A6PVC2 94676 850 8.55 22 Cytoskeleton;Cilium;Cilium axoneme NA 0 PE2 NX_A6PVI3 17685 153 6.89 X NA NA 0 PE3 NX_A6PVL3 12832 124 9.51 1 Membrane NA 2 PE2 NX_A6PVS8 73675 624 9.73 1 Cell membrane NA 0 PE1 NX_A6PVY3 18145 158 4.84 1 NA NA 0 PE2 NX_A6QL63 120884 1104 6.36 12 Nucleoplasm;Membrane NA 1 PE1 NX_A6QL64 217465 1941 8.84 2 NA NA 0 PE1 NX_A6XGL0 32585 299 5.75 19 Mitochondrion NA 0 PE1 NX_A6ZKI3 13171 113 4.94 X NA NA 0 PE1 NX_A7E2F4 70117 631 5.89 15 Golgi stack membrane NA 0 PE2 NX_A7E2S9 28549 258 7.05 2 NA NA 0 PE1 NX_A7E2U8 34376 309 9.64 4 Cytoplasmic vesicle;Centrosome NA 0 PE1 NX_A7E2V4 197297 1837 6.35 10 Cytosol;Cell membrane NA 0 PE1 NX_A7E2Y1 225845 1983 5.81 20 Membrane NA 0 PE1 NX_A7KAX9 230529 2087 6.27 11 Endoplasmic reticulum membrane;Nucleolus;Golgi apparatus;Nucleoplasm;Cell cortex;Endosome membrane;Golgi apparatus membrane;Dendritic spine;Membrane;Postsynaptic density NA 0 PE1 NX_A7MBM2 152003 1401 8.18 15 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 12 PE1 NX_A7MCY6 67702 615 5.62 17 Nucleoplasm NA 0 PE1 NX_A7MD48 68559 611 11.75 12 Nucleus NA 0 PE1 NX_A7XYQ1 92658 873 7.77 6 Nucleoplasm;Cytoplasmic vesicle Mental retardation, anterior maxillary protrusion, and strabismus 0 PE1 NX_A8CG34 125092 1229 10.38 7 Endoplasmic reticulum membrane;Nuclear pore complex;Nucleus membrane NA 1 PE1 NX_A8K010 21118 186 10.18 6 NA NA 0 PE5 NX_A8K0R7 87484 811 6.11 14 Nucleoplasm;Cytoplasm;Cell membrane NA 0 PE1 NX_A8K0S8 39220 358 4.89 17 Nucleus NA 0 PE2 NX_A8K0Z3 50328 465 5.49 9 Centriole;Early endosome membrane;Recycling endosome membrane;Late endosome;Autophagosome NA 0 PE1 NX_A8K2U0 161107 1454 5.5 12 Secreted Otitis media 0 PE1 NX_A8K4G0 22689 201 6.83 17 Cell membrane NA 1 PE1 NX_A8K554 15437 130 6.04 7 NA NA 0 PE5 NX_A8K5M9 19679 175 8.66 15 Mitochondrion NA 0 PE1 NX_A8K7I4 100226 914 5.97 1 Extracellular space;Cell membrane NA 0 PE1 NX_A8K830 16850 154 4.27 11 Cytoplasm NA 0 PE2 NX_A8K855 71981 629 6.01 1 Cytosol;Cilium membrane;Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_A8K8P3 147664 1242 10.82 22 Centriole NA 0 PE1 NX_A8K8V0 46168 405 9.28 16 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_A8K979 77401 691 9.12 16 Nucleus;Golgi apparatus NA 0 PE1 NX_A8MPP1 101811 907 7.28 12 Nucleolus NA 0 PE1 NX_A8MPS7 34466 323 5.96 22 Nucleoplasm NA 0 PE1 NX_A8MPX8 71643 630 8.93 3 Nucleoplasm;Cytoskeleton NA 0 PE2 NX_A8MPY1 54272 467 8.33 3 Postsynaptic cell membrane;Cell membrane NA 4 PE3 NX_A8MQ03 15313 144 6.67 9 Cytoplasmic vesicle;Nucleus speckle;Midbody;Endoplasmic reticulum NA 0 PE1 NX_A8MQ11 15170 134 10.61 7 NA NA 0 PE5 NX_A8MQ14 125431 1090 9.02 19 Nucleoplasm;Nucleus NA 0 PE1 NX_A8MQ27 59270 555 8.76 5 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_A8MQB3 24325 221 9.82 17 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_A8MQT2 67278 603 6.46 15 Golgi stack membrane NA 0 PE2 NX_A8MRT5 126459 1133 10.12 16 Membrane NA 1 PE2 NX_A8MSI8 9374 78 9.69 17 NA NA 0 PE1 NX_A8MT19 65945 583 6.51 15 NA NA 0 PE5 NX_A8MT33 27397 242 4.99 16 Cytoskeleton NA 0 PE1 NX_A8MT65 63592 544 9.01 12 Nucleus NA 0 PE2 NX_A8MT66 19292 165 6.16 21 NA NA 0 PE5 NX_A8MT69 8959 81 5.59 17 Kinetochore;Centromere;Nucleus NA 0 PE1 NX_A8MT70 91426 800 5.43 3 NA NA 0 PE1 NX_A8MTA8 30575 275 8.38 9 NA NA 0 PE1 NX_A8MTB9 43320 384 5.94 19 Midbody NA 0 PE2 NX_A8MTI9 41188 375 9 9 Secreted NA 0 PE5 NX_A8MTJ3 40357 354 5.69 7 Cytoplasm NA 0 PE1 NX_A8MTJ6 43326 420 8.51 2 Nucleus NA 0 PE1 NX_A8MTL0 18048 148 10.05 3 NA NA 0 PE1 NX_A8MTL3 33570 300 9.78 14 NA NA 0 PE1 NX_A8MTL9 15355 139 5.27 18 Secreted NA 0 PE2 NX_A8MTQ0 27003 251 9.43 2 Nucleus NA 0 PE2 NX_A8MTT3 9336 80 9.7 2 Nucleoplasm;Mitochondrion membrane NA 1 PE1 NX_A8MTW9 8750 85 10.5 2 Secreted NA 0 PE5 NX_A8MTY0 71172 619 9.29 19 Nucleus NA 0 PE1 NX_A8MTY7 17793 169 8.01 17 NA NA 0 PE1 NX_A8MTZ0 10506 92 9.42 10 Cytoplasm;Cilium Bardet-Biedl syndrome 18 0 PE1 NX_A8MTZ7 30355 269 5.21 12 NA NA 0 PE1 NX_A8MU10 10262 97 9.79 17 NA NA 0 PE4 NX_A8MU46 48953 457 4.7 11 I band;Nucleus;M line;Myofibril NA 0 PE1 NX_A8MU76 37608 341 10.73 16 NA NA 0 PE3 NX_A8MU93 13000 118 11.57 17 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 NX_A8MUA0 37841 341 10.75 2 NA NA 0 PE3 NX_A8MUH7 44056 402 5.4 1 NA NA 0 PE5 NX_A8MUI8 37626 341 9.9 1 NA NA 0 PE3 NX_A8MUK1 59683 530 8.35 4 Nucleus;Endoplasmic reticulum NA 0 PE3 NX_A8MUL3 15836 147 7.71 10 NA NA 0 PE5 NX_A8MUM7 16576 142 5.53 19 NA NA 0 PE2 NX_A8MUN3 14205 132 9.1 17 Secreted NA 0 PE5 NX_A8MUP2 25910 240 5.51 11 Mitochondrion NA 0 PE1 NX_A8MUP6 32443 293 6.3 17 Membrane NA 4 PE3 NX_A8MUU1 11299 101 7.66 7 NA NA 0 PE5 NX_A8MUU9 55306 505 13.3 22 NA NA 0 PE5 NX_A8MUV8 57972 499 9.3 7 Nucleus NA 0 PE5 NX_A8MUX0 53912 517 5.37 17 NA NA 0 PE1 NX_A8MUZ8 34765 300 9.37 8 Nucleus NA 0 PE2 NX_A8MV23 46963 424 6.7 13 Secreted NA 0 PE1 NX_A8MV24 17565 154 9.8 17 Cytoskeleton;Nucleolus NA 0 PE1 NX_A8MV57 15138 137 5.89 1 NA NA 0 PE5 NX_A8MV65 36009 326 5.9 3 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_A8MV72 34164 311 10.58 8 NA NA 0 PE5 NX_A8MV81 11079 97 9.72 12 Membrane NA 2 PE3 NX_A8MVA2 16800 160 7.95 17 NA NA 0 PE1 NX_A8MVJ9 39722 347 8.28 9 NA NA 0 PE5 NX_A8MVM7 73452 634 9.81 4 NA NA 0 PE5 NX_A8MVS1 34857 300 9.31 8 Nucleus NA 0 PE3 NX_A8MVS5 24753 230 6.82 19 Cytosol;Golgi apparatus;Cell membrane;Membrane NA 1 PE1 NX_A8MVU1 41851 366 8.95 7 Cytoplasm NA 0 PE5 NX_A8MVW0 87435 826 8.14 17 Membrane NA 1 PE1 NX_A8MVW5 51407 462 6.09 7 Spindle;Golgi apparatus membrane;Midbody;Centrosome NA 1 PE1 NX_A8MVX0 94633 844 6.37 2 Cytoplasmic vesicle NA 0 PE2 NX_A8MVZ5 32612 291 8.7 1 Membrane NA 1 PE5 NX_A8MW92 115010 1017 6.39 8 Nucleoplasm;Cell membrane NA 0 PE1 NX_A8MW95 48153 431 4.78 1 Cytoplasm NA 0 PE1 NX_A8MW99 44024 385 5.82 6 Chromosome NA 0 PE3 NX_A8MWA4 34697 300 9.01 11 Nucleus NA 0 PE3 NX_A8MWA6 49874 464 9.86 8 NA NA 0 PE5 NX_A8MWD9 8544 76 8.93 19 Nucleus NA 0 PE5 NX_A8MWE9 16428 144 5.04 20 NA NA 0 PE4 NX_A8MWK0 56358 482 8.02 11 Endoplasmic reticulum membrane NA 4 PE5 NX_A8MWL6 24647 223 4.38 15 Membrane NA 4 PE5 NX_A8MWL7 12177 114 9.57 10 Membrane NA 4 PE5 NX_A8MWP4 24535 228 9.77 21 NA NA 0 PE5 NX_A8MWP6 18109 167 5.64 17 NA NA 0 PE2 NX_A8MWV9 15007 139 8.6 21 Membrane NA 1 PE2 NX_A8MWX3 51595 477 6.24 16 Early endosome membrane;Recycling endosome membrane NA 0 PE5 NX_A8MWY0 113842 1029 5.75 7 Endoplasmic reticulum;Membrane NA 1 PE1 NX_A8MX19 49786 464 9.98 8 NA NA 0 PE5 NX_A8MX34 35211 341 5.89 17 NA NA 0 PE3 NX_A8MX76 79568 684 8.86 2 NA NA 0 PE1 NX_A8MX80 37634 341 10.46 13 NA NA 0 PE3 NX_A8MXD5 32294 290 7.48 4 Microvillus;Kinocilium;Stereocilium Deafness, autosomal recessive, 25 0 PE1 NX_A8MXE2 42761 369 7.08 9 Golgi apparatus membrane NA 1 PE5 NX_A8MXJ8 49840 464 9.86 8 NA NA 0 PE5 NX_A8MXK1 22377 200 8.15 11 Axon;Dendrite;Endoplasmic reticulum;Cell membrane NA 1 PE3 NX_A8MXK9 18008 166 6.09 17 NA NA 0 PE2 NX_A8MXQ7 68295 604 6.18 8 NA NA 0 PE5 NX_A8MXT2 37578 336 9.25 X NA NA 0 PE1 NX_A8MXU0 8390 73 8.9 8 Secreted NA 0 PE5 NX_A8MXV4 42233 375 7.28 19 Cytosol;Nucleolus;Nucleus;Peroxisome NA 0 PE1 NX_A8MXV6 30100 281 9.53 17 Membrane NA 1 PE2 NX_A8MXY4 100791 864 9.54 19 Nucleus NA 0 PE2 NX_A8MXZ1 49910 464 9.98 8 NA NA 0 PE5 NX_A8MXZ3 26333 250 8.05 17 NA NA 0 PE3 NX_A8MY62 54653 500 8.75 1 NA NA 0 PE1 NX_A8MYA2 54417 514 9.18 X NA NA 0 PE1 NX_A8MYB1 35763 307 4.98 15 Membrane NA 1 PE3 NX_A8MYJ7 60903 566 6.98 1 NA NA 0 PE2 NX_A8MYP8 27280 253 10.42 22 NA NA 0 PE1 NX_A8MYU2 129543 1149 8.08 8 Cell membrane NA 7 PE1 NX_A8MYV0 40425 355 9.46 2 Cytoplasm;Flagellum NA 0 PE1 NX_A8MYX2 18345 175 6.23 10 NA NA 0 PE2 NX_A8MYZ0 51976 460 6.25 3 NA NA 0 PE3 NX_A8MYZ5 13059 107 11.71 3 NA NA 0 PE1 NX_A8MYZ6 50595 492 5.25 1 Cytoplasm;Nucleus NA 0 PE1 NX_A8MZ25 18125 164 11.55 17 NA NA 0 PE5 NX_A8MZ26 23937 197 8.95 5 NA NA 0 PE1 NX_A8MZ36 33953 301 5.8 17 Nucleoplasm;Nucleus NA 0 PE1 NX_A8MZ59 18626 168 5.68 19 Nucleolus;Nucleus NA 0 PE2 NX_A8MZ97 21915 194 6.01 2 Centrosome;Membrane NA 1 PE1 NX_A8MZA4 90952 724 5.06 15 NA NA 0 PE3 NX_A8MZF0 35187 331 8.54 11 NA NA 0 PE1 NX_A8MZG2 19564 182 8.54 16 NA NA 0 PE2 NX_A8MZH6 14433 123 8.23 11 Secreted NA 0 PE5 NX_A8TX70 289926 2615 6.5 3 Extracellular matrix NA 0 PE1 NX_A9QM74 56938 516 5.73 7 Nucleus NA 0 PE1 NX_A9UHW6 25423 222 5.23 17 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_A9YTQ3 76265 701 9.14 5 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_A9Z1Z3 200980 1794 5.88 20 Membrane NA 1 PE2 NX_B0FP48 28385 263 8.4 7 Membrane NA 1 PE1 NX_B0I1T2 116442 1018 8.96 7 Phagocytic cup;Cell membrane NA 0 PE1 NX_B0YJ81 32388 288 9.1 10 Endoplasmic reticulum membrane Myopathy, congenital, with fiber-type disproportion 6 PE1 NX_B1AH88 10537 102 8.81 22 NA NA 0 PE5 NX_B1AJZ1 14253 125 7.82 1 NA NA 0 PE5 NX_B1AJZ9 161904 1412 6.52 1 Nucleus NA 0 PE1 NX_B1AK53 91733 854 6.47 1 Microvillus;Cytoplasmic vesicle;Cytoskeleton;Stereocilium Deafness, autosomal recessive, 36, with or without vestibular involvement 0 PE1 NX_B1AK76 14245 121 8.82 X NA NA 0 PE5 NX_B1AKI9 52107 464 5.22 20 Secreted NA 0 PE1 NX_B1AL46 93979 878 7.97 10 NA NA 0 PE3 NX_B1AL88 51493 458 6.2 13 Cytoplasmic vesicle;Nucleus;Centrosome;Membrane NA 2 PE1 NX_B1AMM8 8554 73 6.39 9 NA NA 0 PE5 NX_B1ANH7 12198 110 9.26 1 NA NA 0 PE5 NX_B1ANS9 123631 1081 8.47 1 NA NA 0 PE1 NX_B1ANY3 29405 271 8.89 9 NA NA 0 PE5 NX_B1APH4 51624 448 8.07 10 Cytosol;Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE5 NX_B1ATL7 31890 298 7.26 X NA NA 0 PE4 NX_B2CW77 19958 178 11.27 10 Nucleus Cowden syndrome 4 0 PE1 NX_B2RBV5 13369 119 8.49 4 NA NA 0 PE1 NX_B2RC85 100547 870 7.16 7 NA NA 0 PE1 NX_B2RD01 21052 187 6.54 16 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE2 NX_B2RN74 36530 326 8.14 14 Cell membrane NA 7 PE2 NX_B2RNN3 34713 333 8.23 13 Secreted NA 0 PE1 NX_B2RPK0 24238 211 5.92 20 Nucleus;Chromosome NA 0 PE5 NX_B2RTY4 292706 2548 9.03 15 Cytoplasm;Cell membrane;Membrane NA 1 PE1 NX_B2RU33 61188 542 6.31 18 NA NA 0 PE2 NX_B2RUY7 24570 222 5.06 2 Synapse;Secreted NA 0 PE1 NX_B2RUZ4 8749 78 9.22 1 Cell membrane NA 1 PE1 NX_B2RV13 19546 164 10.07 17 NA NA 0 PE1 NX_B2RXF0 42370 380 9.95 7 Cell membrane;Membrane NA 6 PE1 NX_B2RXF5 46491 422 8.85 14 Nucleoplasm;Cytoplasm;Nucleus Lethal congenital contracture syndrome 6 0 PE1 NX_B2RXH2 56804 506 7.95 11 Nucleus NA 0 PE1 NX_B2RXH4 77931 712 4.94 11 Nucleus NA 0 PE2 NX_B2RXH8 32072 293 5.29 1 Nucleus NA 0 PE1 NX_B3EWF7 35169 344 11.93 6 Nucleus NA 0 PE1 NX_B3EWG3 9320 89 5.78 10 NA NA 0 PE1 NX_B3EWG5 9320 89 5.78 10 NA NA 0 PE1 NX_B3EWG6 9320 89 5.78 10 NA NA 0 PE1 NX_B3GLJ2 11747 98 9.3 11 Secreted NA 0 PE1 NX_B3KS81 80355 715 12.05 19 NA NA 0 PE1 NX_B3KU38 62248 563 5.08 3 Axon;Cytoplasm NA 0 PE1 NX_B3SHH9 24166 223 5.9 16 Cell membrane NA 4 PE2 NX_B4DH59 103816 902 4.35 1 Cytoplasm NA 0 PE5 NX_B4DJY2 12074 109 4.93 12 Membrane NA 2 PE1 NX_B4DS77 46925 424 8.95 16 Synapse;Dendritic spine membrane NA 1 PE1 NX_B4DU55 64577 563 9.63 5 Nucleus NA 0 PE1 NX_B4DX44 49868 427 9.1 7 Nucleus NA 0 PE1 NX_B4DXR9 67839 585 9.19 4 Nucleus NA 0 PE2 NX_B4DYI2 124429 1134 9.42 9 Membrane NA 1 PE5 NX_B4DZS4 34563 312 4.6 X NA NA 0 PE2 NX_B4E2M5 27916 251 9.3 6 NA NA 0 PE2 NX_B5MCN3 45364 397 6.63 22 Nucleoplasm NA 0 PE5 NX_B5MCY1 221722 1934 6.67 2 NA NA 0 PE1 NX_B5MD39 24102 225 5.75 22 NA NA 0 PE5 NX_B5ME19 105473 914 5.45 16 Cytoplasm NA 0 PE1 NX_B6A8C7 29474 271 8.87 19 Cell membrane NA 1 PE1 NX_B6SEH8 52557 477 8.76 19 Membrane NA 1 PE2 NX_B6SEH9 59317 535 8.87 19 Membrane NA 2 PE2 NX_B7U540 48880 433 5.76 17 Cell membrane Thyrotoxic periodic paralysis 2 2 PE1 NX_B7Z1M9 37583 353 11.24 1 NA NA 0 PE1 NX_B7Z368 13757 130 9.83 10 NA NA 0 PE2 NX_B7Z6K7 97337 855 9.14 19 NA NA 0 PE1 NX_B7Z8K6 17085 153 9.42 14 Cell membrane NA 1 PE1 NX_B7ZAP0 29038 253 5.28 1 NA NA 0 PE1 NX_B7ZAQ6 52917 455 9.34 1 Golgi apparatus membrane;Endoplasmic reticulum NA 9 PE1 NX_B7ZBB8 38019 358 4.88 6 NA NA 0 PE1 NX_B7ZC32 108254 967 8.68 1 Mitochondrion membrane NA 0 PE3 NX_B7ZW38 32029 293 5.48 1 Nucleus NA 0 PE1 NX_B8ZZ34 41995 397 10.56 22 Membrane NA 1 PE1 NX_B9A014 29214 251 8.7 21 NA NA 0 PE2 NX_B9A064 23063 214 9.08 22 Secreted NA 0 PE1 NX_B9A6J9 62187 549 9.2 17 Cell membrane NA 0 PE2 NX_B9EJG8 27887 249 6.08 4 Lysosome membrane;Cell membrane NA 6 PE2 NX_B9ZVM9 38357 353 7.18 6 NA NA 0 PE3 NX_C4AMC7 49995 463 5.36 15 Early endosome membrane;Centriole;Autophagosome;Filopodium;Early endosome;Lamellipodium;Recycling endosome membrane NA 0 PE1 NX_C9J069 106650 976 9.26 9 Cytosol;Adherens junction;Focal adhesion;Apical cell membrane;Cilium NA 0 PE1 NX_C9J1S8 52496 452 8.74 11 NA NA 0 PE1 NX_C9J202 24154 215 5.47 3 NA NA 0 PE3 NX_C9J2P7 59676 530 8.22 4 Nucleus;Endoplasmic reticulum NA 0 PE3 NX_C9J302 23001 202 8.57 4 NA NA 0 PE4 NX_C9J3I9 11666 102 6.84 5 NA NA 0 PE1 NX_C9J3V5 16880 150 10.33 14 Cytoplasm;Acrosome NA 0 PE1 NX_C9J442 27532 243 8.94 22 Nucleolus;Nucleus;Secreted NA 0 PE2 NX_C9J6K1 22444 198 6.97 19 Cytoplasmic vesicle NA 0 PE1 NX_C9J798 90406 803 7.81 7 Cytosol;Cell membrane NA 0 PE2 NX_C9J7I0 15200 137 4.35 7 Nucleoplasm NA 0 PE1 NX_C9JBD0 14906 128 9.42 3 Nucleoplasm;Golgi apparatus NA 0 PE2 NX_C9JC47 42896 383 11.26 3 NA NA 0 PE3 NX_C9JCN9 8384 74 4.86 18 Nucleoplasm NA 0 PE2 NX_C9JDP6 25394 229 5.37 11 Cell membrane;Tight junction NA 4 PE5 NX_C9JDV5 16178 145 9.67 12 NA NA 0 PE2 NX_C9JE40 61464 543 5 15 Cytoplasm;Nucleus Oocyte maturation defect 4 0 PE1 NX_C9JFL3 7706 82 7.25 15 Cytoplasmic vesicle NA 0 PE1 NX_C9JG80 126699 1138 10.08 16 Membrane NA 1 PE2 NX_C9JH25 92712 899 6.27 7 Nucleoplasm;Membrane;Cell membrane;Peroxisome NA 5 PE1 NX_C9JI98 18040 176 11.54 19 Membrane NA 2 PE1 NX_C9JJ37 32365 291 6.21 1 NA NA 0 PE2 NX_C9JJH3 59886 530 8.46 4 Nucleus;Endoplasmic reticulum NA 0 PE3 NX_C9JL84 58297 531 9.11 8 Secreted NA 0 PE2 NX_C9JLJ4 59694 530 8.22 4 Nucleus;Endoplasmic reticulum NA 0 PE3 NX_C9JLR9 73197 678 5.82 11 Cytoskeleton NA 0 PE1 NX_C9JLW8 10920 97 9.39 17 Cytosol;Stress granule;Nucleus NA 0 PE1 NX_C9JN71 61540 531 9.55 19 Nucleolus;Nucleus NA 0 PE1 NX_C9JPN9 59687 530 8.35 4 Nucleus;Endoplasmic reticulum NA 0 PE3 NX_C9JQI7 76453 657 8.29 5 Membrane NA 2 PE2 NX_C9JQL5 14796 133 9.61 12 Membrane NA 2 PE5 NX_C9JR72 49485 458 5.47 15 Cytoplasm Nemaline myopathy 6 0 PE1 NX_C9JRZ8 36537 316 6.23 7 Cytosol;Mitochondrion NA 0 PE1 NX_C9JSJ3 70198 638 9.1 19 Nucleus NA 0 PE3 NX_C9JTQ0 39620 380 11.04 15 NA NA 0 PE1 NX_C9JUS6 16532 153 9.48 19 Secreted NA 0 PE2 NX_C9JVI0 59630 530 8.22 4 Nucleus;Endoplasmic reticulum NA 0 PE3 NX_C9JVW0 14668 142 10.69 19 Membrane NA 1 PE1 NX_C9JXX5 10902 98 9.97 11 Secreted NA 0 PE2 NX_D3DTV9 10428 90 12 17 Nucleus NA 0 PE5 NX_D3W0D1 24008 207 5.83 12 Cell membrane NA 1 PE1 NX_D6R901 59659 530 8.22 4 Nucleus;Endoplasmic reticulum NA 0 PE3 NX_D6R9N7 59657 530 8.35 4 Nucleus;Endoplasmic reticulum NA 0 PE3 NX_D6RA61 59671 530 8.35 4 Nucleus;Endoplasmic reticulum NA 0 PE3 NX_D6RBM5 20302 183 7.13 4 Nucleus;Endoplasmic reticulum NA 0 PE5 NX_D6RBQ6 59627 530 8.22 4 Nucleus;Endoplasmic reticulum NA 0 PE3 NX_D6RCP7 59658 530 8.35 4 Nucleus;Endoplasmic reticulum NA 0 PE3 NX_D6REC4 52293 459 10.55 4 Flagellum NA 0 PE1 NX_D6RF30 68878 607 8.64 15 NA NA 0 PE3 NX_D6RGH6 41720 385 5.62 5 Nucleus NA 0 PE1 NX_D6RGX4 49883 464 9.82 4 NA NA 0 PE5 NX_D6RIA3 190074 1793 9.11 4 NA NA 0 PE1 NX_D6RJB6 59626 530 8.22 4 Nucleus;Endoplasmic reticulum NA 0 PE3 NX_E0CX11 5265 47 9.1 7 Mitochondrion;Mitochondrion membrane NA 1 PE1 NX_E2RYF6 173478 1773 3.9 6 Membrane NA 1 PE1 NX_E2RYF7 26282 251 4.36 6 Secreted NA 0 PE2 NX_E5RG02 19341 174 9.32 3 NA NA 0 PE3 NX_E5RHQ5 129208 1161 10.06 16 Membrane NA 1 PE3 NX_E5RIL1 28385 263 8.4 7 Membrane NA 1 PE1 NX_E5RJ46 11413 101 11.36 8 NA NA 0 PE4 NX_E5RJM6 41497 399 6.09 1 Nucleoplasm NA 0 PE1 NX_E5RQL4 16268 147 9.21 2 Cytoplasmic vesicle NA 0 PE2 NX_E7EML9 36995 344 8.46 3 Secreted NA 0 PE3 NX_E7ERA6 26629 249 9.43 1 Membrane NA 1 PE1 NX_E7ETH6 45541 402 8.73 19 Nucleus NA 0 PE1 NX_E7EU14 19623 171 9.4 19 Cytosol NA 0 PE2 NX_E7EW31 106917 1015 9.68 5 Nucleoplasm NA 0 PE1 NX_E9PAV3 205422 2078 9.6 12 Cytoplasm;Nucleus NA 0 PE1 NX_E9PB15 19074 166 4.81 17 NA NA 0 PE5 NX_E9PGG2 41695 379 5.25 12 Nucleus NA 0 PE1 NX_E9PI22 31050 279 6.08 8 NA NA 0 PE2 NX_E9PIF3 42223 369 9.62 16 NA NA 0 PE3 NX_E9PJ23 49162 425 10.38 16 NA NA 0 PE2 NX_E9PJI5 42230 369 9.22 16 NA NA 0 PE1 NX_E9PKD4 40105 350 9.48 16 NA NA 0 PE2 NX_E9PQ53 13408 114 8.47 11 Mitochondrion inner membrane NA 1 PE1 NX_E9PQR5 49617 432 10.15 16 NA NA 0 PE2 NX_E9PQX1 13758 116 6.11 11 Membrane NA 3 PE2 NX_E9PRG8 13798 122 11.69 11 NA NA 0 PE1 NX_F2Z333 24218 226 9.11 1 Membrane NA 1 PE1 NX_F2Z398 13273 122 5 13 NA NA 0 PE2 NX_F2Z3F1 14123 127 9.23 5 NA NA 0 PE2 NX_F2Z3M2 12668 114 5.7 17 NA NA 0 PE4 NX_F5GYI3 40592 381 5.37 15 Nucleus NA 0 PE2 NX_F5H284 18167 164 9.43 1 Cytoplasm NA 0 PE3 NX_F5H4A9 25682 247 5.51 3 Membrane NA 1 PE1 NX_F5H4B4 66188 570 9.39 22 Nucleoplasm NA 0 PE1 NX_F7VJQ1 8691 73 9.24 20 Mitochondrion outer membrane NA 1 PE1 NX_F8VTS6 32249 287 7.47 19 NA NA 0 PE2 NX_F8W1W9 49181 429 10.44 16 NA NA 0 PE2 NX_F8WBI6 71524 632 5.93 15 NA NA 0 PE2 NX_F8WCM5 21537 200 5.93 11 NA NA 0 PE1 NX_F8WFD2 40061 350 9.48 16 NA NA 0 PE3 NX_G2XKQ0 11526 101 5.33 20 Nucleus NA 0 PE1 NX_G3V0H7 71247 640 8.8 12 Cell membrane NA 11 PE5 NX_G3V211 13510 115 9.43 12 NA NA 0 PE5 NX_G9CGD6 100365 899 8.55 6 NA NA 0 PE1 NX_H0UI37 11268 97 5.43 6 NA NA 0 PE3 NX_H0Y354 16730 149 6.27 1 NA NA 0 PE3 NX_H0Y7S4 44302 382 8.65 1 NA NA 0 PE5 NX_H0YKK7 64493 550 4.78 15 NA NA 0 PE5 NX_H0YL09 14853 131 5.27 15 NA NA 0 PE5 NX_H0YL14 16083 139 10.48 9 Nucleoplasm;Cytoplasm;Nucleus;Membrane NA 2 PE1 NX_H0YM25 102665 810 4.95 15 NA NA 0 PE3 NX_H3BMG3 7091 65 10.3 7 Nucleolus NA 0 PE2 NX_H3BN30 14216 126 9.41 16 NA NA 0 PE2 NX_H3BNL1 23376 204 9.32 3 NA NA 0 PE1 NX_H3BNL8 26547 230 9.09 6 NA NA 0 PE1 NX_H3BPF8 70417 625 7.67 15 NA NA 0 PE3 NX_H3BPM6 25451 223 5.83 3 Golgi apparatus NA 0 PE2 NX_H3BQB6 30984 276 8.61 6 Cytoskeleton NA 0 PE1 NX_H3BQJ8 15317 138 9.07 8 Cell membrane NA 0 PE3 NX_H3BQL2 71644 631 7.69 15 NA NA 0 PE3 NX_H3BQW9 12972 127 7.75 1 NA NA 0 PE2 NX_H3BR10 12312 107 10.43 6 Membrane NA 2 PE1 NX_H3BRN8 13763 121 8.49 15 Cytosol;Nucleus NA 0 PE1 NX_H3BS89 33409 294 9.45 7 Cytoplasmic vesicle;Nucleolus;Membrane NA 3 PE1 NX_H3BSY2 71498 632 6.65 15 NA NA 0 PE2 NX_H3BTG2 14053 121 9.86 1 NA NA 0 PE1 NX_H3BU77 8104 68 9.78 11 NA NA 0 PE2 NX_H3BUK9 61708 544 5.75 15 NA NA 0 PE3 NX_H3BV12 71646 632 5.98 15 NA NA 0 PE3 NX_H3BV60 32819 316 11.72 19 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_H7BZ55 185872 1655 5.42 2 NA NA 0 PE5 NX_H7C241 24226 214 8.21 X Cell membrane;Tight junction NA 4 PE3 NX_H7C350 43548 402 8.61 22 Nucleoplasm;Nucleus;Membrane NA 1 PE1 NX_I0J062 22842 215 12.21 11 Nucleolus NA 0 PE2 NX_I1YAP6 52450 450 8.59 11 NA NA 0 PE2 NX_I3L0S3 21949 204 11.32 16 NA NA 0 PE5 NX_I3L1E1 19614 186 6.96 19 NA NA 0 PE1 NX_I3L273 56104 518 5.64 19 Golgi apparatus membrane NA 1 PE3 NX_I3L3R5 30352 266 5.22 19 Secreted NA 0 PE1 NX_I6L899 71490 631 5.98 15 NA NA 0 PE1 NX_J3KSC0 14903 135 7.65 18 NA NA 0 PE5 NX_K7EIQ3 11601 104 8.99 19 NA NA 0 PE4 NX_K7EJ46 14570 135 6.06 16 Cytosol;Nucleoplasm;Membrane NA 1 PE1 NX_K9M1U5 19675 179 11.29 19 Cytoplasm;Secreted NA 0 PE1 NX_L0R6Q1 11133 103 7.81 5 Membrane NA 1 PE1 NX_L0R819 11250 96 8.83 2 Cytoplasm NA 0 PE1 NX_L0R8F8 8445 70 10.59 22 Mitochondrion matrix NA 0 PE1 NX_M0QZC1 34789 329 9.43 19 Membrane NA 1 PE3 NX_M5A8F1 18128 160 9.24 21 Secreted NA 0 PE1 NX_O00110 23826 214 10.2 19 Nucleus NA 0 PE3 NX_O00115 39581 360 8.3 19 Lysosome NA 0 PE1 NX_O00116 72912 658 6.99 2 Peroxisome membrane;Peroxisome Rhizomelic chondrodysplasia punctata 3 0 PE1 NX_O00124 30541 270 7.63 8 Nucleoplasm;Endoplasmic reticulum membrane;Nucleolus;Endoplasmic reticulum NA 2 PE1 NX_O00139 79955 706 6.28 5 Nucleolus;Cytoplasm;Centrosome;Nucleus;Spindle;Spindle pole Cortical dysplasia, complex, with other brain malformations 3 0 PE1 NX_O00141 48942 431 8.7 6 Endoplasmic reticulum membrane;Nucleus speckle;Cytoplasm;Cell membrane;Nucleus;Mitochondrion NA 0 PE1 NX_O00142 31005 265 8.71 16 Mitochondrion Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3;Mitochondrial DNA depletion syndrome 2 0 PE1 NX_O00144 64466 591 8.63 7 Cell membrane NA 7 PE2 NX_O00148 49130 427 5.46 19 Cytoplasm;Nucleus NA 0 PE1 NX_O00151 36072 329 6.56 10 Cell membrane;Cytoskeleton;Cell junction;Z line;Cytoplasm NA 0 PE1 NX_O00154 41796 380 8.85 1 Mitochondrion;Cytoplasm;Cytosol;Nucleoplasm NA 0 PE1 NX_O00155 38779 361 9.56 1 Cell membrane NA 7 PE1 NX_O00159 121682 1063 9.46 17 Nucleolus;Ruffle;Nucleoplasm;Cytoplasm;Nuclear pore complex;Cell membrane;Cytoplasmic vesicle;Nucleus;Stereocilium membrane NA 0 PE1 NX_O00160 124844 1098 9.21 19 NA NA 0 PE1 NX_O00161 23354 211 4.89 15 Synaptosome;Cell membrane NA 0 PE1 NX_O00165 31621 279 4.76 1 P-body;Nucleus membrane;Cytoplasm;Cell cortex;Endoplasmic reticulum;Cytoplasmic vesicle;Sarcoplasmic reticulum;Nucleus;Cell membrane;Mitochondrion Neutropenia, severe congenital 3, autosomal recessive 0 PE1 NX_O00167 59232 538 6.02 20 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_O00168 10441 92 9.35 19 Nucleolus;Cytosol;Apical cell membrane;Nucleus;Sarcolemma;Caveola NA 1 PE1 NX_O00170 37636 330 5.88 11 Cytosol;Cytoplasm Pituitary adenoma 1, multiple types;Prolactin-secreting pituitary adenoma 0 PE1 NX_O00175 13134 119 10 7 Secreted NA 0 PE1 NX_O00178 72454 669 8.6 22 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_O00180 38143 336 5.94 1 Synapse;Apical cell membrane;Perikaryon;Cell membrane;Cytoplasmic vesicle;Dendrite;Recycling endosome;Cell projection NA 4 PE1 NX_O00182 39518 355 9.34 17 Cytoplasm;Nucleus;Secreted NA 0 PE1 NX_O00186 67764 592 7.98 1 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 NX_O00187 75702 686 5.39 1 Golgi apparatus;Secreted MASP2 deficiency 0 PE1 NX_O00189 49977 453 6.71 7 trans-Golgi network membrane;Early endosome Spastic paraplegia 50, autosomal recessive 0 PE1 NX_O00192 104642 962 6.38 22 Cell junction;Cell membrane NA 0 PE1 NX_O00193 20333 183 4.57 11 Nucleoplasm;Endoplasmic reticulum NA 0 PE1 NX_O00194 24608 218 5.35 18 Cytosol;Cell membrane;Golgi apparatus;Membrane NA 0 PE1 NX_O00198 9884 91 11.75 12 Mitochondrion;Membrane NA 1 PE1 NX_O00203 121320 1094 5.75 5 Nucleoplasm;Clathrin-coated vesicle membrane;Golgi apparatus Hermansky-Pudlak syndrome 2 0 PE1 NX_O00204 41308 365 5.24 19 Cytosol;Cytoplasmic vesicle;Nucleus;Microsome;Cytoplasm Ichthyosis, congenital, autosomal recessive 14 0 PE1 NX_O00206 95680 839 5.88 9 Cytosol;Cell membrane;Golgi apparatus;Early endosome NA 1 PE1 NX_O00212 23413 210 8.15 11 Cell membrane;Early endosome NA 0 PE1 NX_O00213 77244 710 4.98 11 Nucleus speckle;Nucleus;Growth cone;Cell membrane;Cytoplasm NA 0 PE1 NX_O00214 35808 317 8.33 1 Cytoplasmic vesicle;Cytosol NA 0 PE1 NX_O00217 23705 210 6 11 Mitochondrion Leigh syndrome 0 PE1 NX_O00219 62998 553 8.77 16 Cytoskeleton;Membrane NA 7 PE1 NX_O00220 50089 468 6.64 8 Nucleoplasm;Membrane NA 1 PE1 NX_O00221 52864 500 6.22 6 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_O00222 101741 908 8.49 7 Cell membrane NA 7 PE1 NX_O00230 11532 105 8.84 1 Secreted NA 0 PE2 NX_O00231 47464 422 6.08 17 Cytosol;Nucleus;Golgi apparatus NA 0 PE1 NX_O00232 52904 456 7.53 17 Cytosol;Cytoplasm;Cytoskeleton;Nucleus Stankiewicz-Isidor syndrome 0 PE1 NX_O00233 24682 223 6.46 12 Cytosol;Cell membrane NA 0 PE1 NX_O00237 79405 685 5.45 2 Endoplasmic reticulum membrane NA 4 PE1 NX_O00238 56930 502 7.78 4 Cell membrane;Membrane Acromesomelic dysplasia, Demirhan type;Brachydactyly A2;Brachydactyly A1, D 1 PE1 NX_O00241 43211 398 6.06 20 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_O00244 7402 68 6.71 5 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_O00253 14440 132 7.44 16 Golgi apparatus lumen;Secreted Obesity 0 PE1 NX_O00254 42508 374 8.56 5 Cell membrane;Endoplasmic reticulum NA 7 PE1 NX_O00255 68023 615 6.14 11 Nucleoplasm;Cytosol;Nucleus Familial multiple endocrine neoplasia type I 0 PE1 NX_O00257 61368 560 9.41 17 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_O00258 19780 174 9.71 21 Endoplasmic reticulum membrane NA 3 PE1 NX_O00264 21671 195 4.56 X Microsome membrane;Nucleolus;Smooth endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 NX_O00267 121000 1087 4.95 19 Nucleoplasm;Nucleus NA 0 PE1 NX_O00268 110114 1085 9.95 20 Nucleoplasm;Nucleus NA 0 PE1 NX_O00270 35075 319 9.37 6 Cell membrane NA 7 PE2 NX_O00273 36522 331 4.68 1 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_O00287 28232 272 5.41 13 Nucleus speckle;Nucleus Bare lymphocyte syndrome 2 0 PE1 NX_O00291 116221 1037 5.2 7 Cytoplasmic vesicle;Cytoplasm;Nucleus;Clathrin-coated vesicle membrane;Endomembrane system NA 0 PE1 NX_O00292 40920 366 8.91 1 Secreted Left-right axis malformations 0 PE1 NX_O00294 60609 542 9.49 6 Cytoplasm;Synapse;Cell membrane;Secreted Leber congenital amaurosis 15;Retinitis pigmentosa 14 0 PE1 NX_O00295 58664 520 8.31 19 Cytoplasm;Secreted NA 0 PE1 NX_O00299 26923 241 5.09 6 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleus membrane NA 1 PE1 NX_O00300 46026 401 8.66 8 Secreted Paget disease of bone 5, juvenile-onset 0 PE1 NX_O00303 37564 357 5.24 11 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 NX_O00305 58169 520 9.37 2 NA Episodic ataxia 5;Epilepsy, idiopathic generalized 9;Juvenile myoclonic epilepsy 6 0 PE1 NX_O00308 98912 870 6.67 16 Nucleus NA 0 PE1 NX_O00311 63888 574 8.96 1 Nucleoplasm;Spindle;Nucleus;Cytoskeleton NA 0 PE1 NX_O00321 36633 342 5.88 19 Nucleus NA 0 PE2 NX_O00322 28879 258 5.16 19 Membrane NA 4 PE1 NX_O00327 68762 626 6.4 11 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;PML body NA 0 PE1 NX_O00329 119479 1044 6.79 1 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton Activated PI3K-delta syndrome 0 PE1 NX_O00330 54122 501 8.8 11 Mitochondrion matrix;Mitochondrion;Nucleus;Cell membrane Pyruvate dehydrogenase E3-binding protein deficiency 0 PE1 NX_O00337 71584 649 7.77 15 Cell membrane NA 13 PE1 NX_O00338 34880 296 7.12 2 Cytoplasm NA 0 PE1 NX_O00339 106837 956 5.86 8 Secreted NA 0 PE1 NX_O00341 60658 560 6.33 1 Membrane NA 10 PE2 NX_O00358 38076 373 9.62 9 Nucleus Bamforth-Lazarus syndrome;Thyroid cancer, non-medullary, 4 0 PE1 NX_O00370 149012 1275 9.68 unknown NA NA 0 PE1 NX_O00391 82578 747 9.13 1 Cytoplasmic vesicle;Extracellular space;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_O00398 38774 339 9.26 X Cell membrane NA 7 PE1 NX_O00399 20747 190 5.94 8 Kinetochore;Cytosol;Cytoskeleton;Nucleolus;Cell membrane NA 0 PE1 NX_O00400 60909 549 6.98 3 Endoplasmic reticulum membrane;Nucleus Congenital cataracts, hearing loss, and neurodegeneration;Spastic paraplegia 42, autosomal dominant 11 PE1 NX_O00401 54827 505 8.05 7 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_O00408 105717 941 5.22 11 Cytosol;Cytoplasm;Cell membrane;Mitochondrion outer membrane;Mitochondrion;Mitochondrion inner membrane;Mitochondrion matrix NA 0 PE1 NX_O00409 53835 490 6.19 14 Nucleus;Cell membrane NA 0 PE1 NX_O00410 123630 1097 4.83 13 Cytosol;Cytoplasm;Nucleolus;Nucleus;Nucleoplasm NA 0 PE1 NX_O00411 138620 1230 9.19 19 Mitochondrion NA 0 PE1 NX_O00418 82144 725 5.16 16 Nucleoplasm NA 0 PE1 NX_O00421 39513 344 7.92 3 Cell membrane NA 7 PE1 NX_O00422 17561 153 9.38 13 Cytosol;Nucleus speckle;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_O00423 89861 815 6.61 14 Cytoplasm;Perinuclear region;Cytoskeleton Band heterotopia 0 PE1 NX_O00425 63705 579 8.99 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_O00429 81877 736 6.37 12 Synaptic vesicle membrane;Golgi apparatus;Cytosol;Clathrin-coated pit;Endomembrane system;Cytoplasmic vesicle;Peroxisome;Mitochondrion outer membrane Optic atrophy 5;Encephalopathy due to defective mitochondrial and peroxisomal fission 1 0 PE1 NX_O00442 39337 366 8.01 1 Nucleoplasm;Nucleus NA 0 PE1 NX_O00443 190680 1686 8.25 11 Cytoplasm;Nucleus;Clathrin-coated vesicle;Golgi apparatus;Cell membrane NA 0 PE1 NX_O00444 108972 970 8.79 4 Centriole;Cytosol;Nucleolus;Centrosome;Cleavage furrow Microcephaly and chorioretinopathy, autosomal recessive, 2 0 PE1 NX_O00445 42900 386 9.27 19 Synaptic vesicle membrane;Recycling endosome membrane NA 1 PE1 NX_O00451 51544 464 8 8 Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_O00453 10792 97 8.43 6 Endomembrane system;Golgi apparatus membrane;Membrane NA 1 PE1 NX_O00458 50269 451 6.8 7 Cytosol;Cell membrane NA 0 PE1 NX_O00459 81545 728 6.03 19 Golgi apparatus Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 PE1 NX_O00461 81880 696 4.73 3 Endosome membrane;Golgi stack membrane;Golgi apparatus;Membrane NA 1 PE1 NX_O00462 100895 879 5.33 4 Cytoplasmic vesicle;Lysosome Mannosidosis, beta A, lysosomal 0 PE1 NX_O00463 64406 557 7.26 1 Cytosol;Cytoplasm NA 0 PE1 NX_O00468 217320 2068 6.01 1 Cytosol;Synapse;Cell membrane;Extracellular matrix Myasthenic syndrome, congenital, 8 0 PE1 NX_O00469 84686 737 6.24 3 Cytosol;Rough endoplasmic reticulum membrane;Nucleolus Bruck syndrome 2 0 PE1 NX_O00470 43016 390 5.86 2 Nucleoplasm;Nucleus Restless legs syndrome 7 0 PE1 NX_O00471 81853 708 6.27 14 Cytoplasm;Midbody NA 0 PE1 NX_O00472 72324 640 9.09 5 Nucleoplasm;Nucleus NA 0 PE1 NX_O00476 46106 420 8.69 6 Endoplasmic reticulum membrane;Cell membrane NA 8 PE1 NX_O00478 65002 584 5.37 6 Cell membrane NA 1 PE1 NX_O00479 9539 90 10.48 6 Nucleus NA 0 PE1 NX_O00481 57677 513 8.23 6 Cytoplasmic vesicle;Cell membrane NA 1 PE1 NX_O00482 61331 541 8.08 1 Nucleus speckle;Nucleus NA 0 PE1 NX_O00483 9370 81 9.42 7 Mitochondrion inner membrane Leigh syndrome 0 PE1 NX_O00487 34577 310 6.06 2 Nucleoplasm NA 0 PE1 NX_O00488 15199 134 9.85 1 Nucleolus;Nucleus NA 0 PE1 NX_O00499 64699 593 4.97 2 Cytosol;Cytoplasm;Endosome;Nucleus;Sarcolemma Myopathy, centronuclear, 2 0 PE1 NX_O00501 23147 218 8.25 22 Tight junction;Cell membrane NA 4 PE1 NX_O00505 57811 521 4.8 13 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_O00506 48112 426 6.27 2 Cytoplasm;Golgi apparatus NA 0 PE1 NX_O00507 291077 2555 5.56 Y Cytoplasmic vesicle;Cytoplasm Spermatogenic failure Y-linked 2 0 PE1 NX_O00512 149290 1426 8.99 1 Nucleoplasm;Nucleus NA 0 PE1 NX_O00515 57131 517 9.67 1 Cytoskeleton;Basement membrane NA 0 PE1 NX_O00519 63066 579 7.82 1 Cytosol;Cytoskeleton;Endomembrane system NA 1 PE1 NX_O00522 84348 736 8.63 7 Cytoplasmic vesicle;Cytoskeleton;Cell junction;Cell membrane Cerebral cavernous malformations 1 0 PE1 NX_O00526 19438 184 10.41 11 Cell membrane;Endoplasmic reticulum NA 1 PE1 NX_O00533 135071 1208 5.51 3 Cell membrane;Extracellular matrix NA 1 PE1 NX_O00534 86489 786 6.13 11 Nucleus NA 0 PE1 NX_O00541 68003 588 6.93 22 Nucleoplasm;Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_O00548 78056 723 5.85 6 Nucleoplasm;Adherens junction;Apical cell membrane;Membrane raft NA 1 PE1 NX_O00555 282564 2506 9 19 Cell membrane;Endoplasmic reticulum Epileptic encephalopathy, early infantile, 42;Spinocerebellar ataxia 6;Episodic ataxia 2;Migraine, familial hemiplegic, 1 24 PE1 NX_O00559 24377 213 6.04 8 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_O00560 32444 298 7.06 8 Endoplasmic reticulum membrane;Melanosome;Nucleus membrane;Cytosol;Cell membrane;Membrane raft;Nucleoplasm;Focal adhesion;Nucleus;Adherens junction;Cytoskeleton;Exosome NA 0 PE1 NX_O00562 134848 1244 5.64 11 Endoplasmic reticulum membrane;Golgi stack membrane;Cleavage furrow;Cytosol;Cytoplasm;Lipid droplet;Microtubule organizing center;Midbody NA 0 PE1 NX_O00566 78864 681 4.77 2 Nucleolus;Chromosome NA 0 PE1 NX_O00567 66050 594 9.24 20 Nucleoplasm;Cytoplasm;Nucleolus Spinocerebellar ataxia 36 0 PE1 NX_O00570 39023 391 9.7 13 Nucleus NA 0 PE1 NX_O00571 73243 662 6.73 X Cytoplasm;Nucleus speckle;Mitochondrion outer membrane Mental retardation, X-linked 102 0 PE1 NX_O00574 39280 342 8.28 3 Cell membrane NA 7 PE2 NX_O00584 29481 256 6.66 6 Lysosome lumen;Endoplasmic reticulum lumen;Secreted Leukoencephalopathy, cystic, without megalencephaly 0 PE1 NX_O00585 14646 134 10.13 9 Secreted NA 0 PE1 NX_O00587 36202 321 9.01 22 Cytoskeleton;Golgi apparatus membrane NA 1 PE1 NX_O00590 43443 384 7.61 3 Nucleoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol;Early endosome;Recycling endosome NA 7 PE1 NX_O00591 50640 440 6.55 5 Postsynaptic cell membrane;Cell membrane NA 4 PE1 NX_O00592 58635 558 5.28 7 Apical cell membrane;Ruffle;Microvillus;Cell membrane;Microtubule organizing center;Cytoplasmic vesicle;Filopodium;Membrane;Lamellipodium;Membrane raft NA 1 PE1 NX_O00602 35078 326 6.39 9 Cell membrane;Secreted NA 0 PE1 NX_O00622 42027 381 8.64 1 Secreted NA 0 PE1 NX_O00623 40797 359 9.21 17 Peroxisome membrane Peroxisome biogenesis disorder 3A;Peroxisome biogenesis disorder complementation group 3;Peroxisome biogenesis disorder 3B 2 PE1 NX_O00624 47277 439 8.85 6 Membrane NA 9 PE2 NX_O00625 32113 290 6.42 X Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_O00626 10625 93 8.8 16 Secreted NA 0 PE1 NX_O00628 35892 323 5.41 6 Cytoplasmic vesicle;Nucleoplasm;Peroxisome;Cytoplasm Peroxisome biogenesis disorder complementation group 11;Rhizomelic chondrodysplasia punctata 1;Peroxisome biogenesis disorder 9B 0 PE1 NX_O00629 57887 521 4.8 3 Cytoplasm;Nucleus NA 0 PE1 NX_O00631 3762 31 8.34 11 Endoplasmic reticulum membrane;Cytoskeleton;Sarcoplasmic reticulum membrane NA 1 PE1 NX_O00634 61466 580 9.2 16 Extracellular matrix NA 0 PE1 NX_O00635 53416 465 6.61 6 Centrosome;Cell membrane;Cell junction NA 0 PE1 NX_O00712 47442 420 9.01 9 Nucleolus;Nucleus NA 0 PE1 NX_O00716 49162 465 5.29 6 Cytosol;Nucleus speckle;Nucleus;Nucleoplasm NA 0 PE1 NX_O00743 35144 305 5.43 9 Mitochondrion;Cytoplasm NA 0 PE1 NX_O00744 43000 389 9.37 12 Extracellular matrix;Golgi apparatus;Secreted Split-hand/foot malformation 6;Tooth agenesis, selective, 8 0 PE1 NX_O00746 20659 187 10.3 16 Mitochondrion matrix;Mitochondrion;Mitochondrion intermembrane space NA 0 PE1 NX_O00748 61807 559 5.71 16 Cytosol;Endoplasmic reticulum lumen;Golgi apparatus;Endoplasmic reticulum NA 0 PE1 NX_O00750 184768 1634 6.95 1 Nucleoplasm;Microsome;Endoplasmic reticulum;Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_O00754 113744 1011 6.84 19 Nucleoplasm;Cytoplasmic vesicle;Lysosome Mannosidosis, alpha B, lysosomal 0 PE1 NX_O00755 39005 349 9.05 3 Secreted;Extracellular matrix Limb pelvis hypoplasia aplasia syndrome;Fuhrmann syndrome 0 PE1 NX_O00757 36743 339 6.84 9 Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;Cell junction;Z line NA 0 PE1 NX_O00762 19652 179 6.83 20 Cytosol;Cell membrane NA 0 PE1 NX_O00763 276541 2458 6.05 12 Mitochondrion;Nucleus;Endomembrane system NA 0 PE1 NX_O00764 35102 312 5.75 21 Cytoplasm;Nucleus NA 0 PE1 NX_O00767 41523 359 9.07 10 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 4 PE1 NX_O14490 108873 977 6.66 18 Postsynaptic density;Synapse;Cell membrane NA 0 PE1 NX_O14492 67738 632 5.85 7 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_O14493 22077 209 8.38 7 Cell membrane;Tight junction NA 4 PE1 NX_O14494 32156 284 8.1 5 Cell membrane NA 6 PE1 NX_O14495 35116 311 9.31 1 trans-Golgi network membrane;Golgi apparatus;Cell membrane NA 6 PE1 NX_O14497 242045 2285 6.24 1 Nucleoplasm;Nucleus Coffin-Siris syndrome 2 0 PE1 NX_O14498 45997 428 5 15 Cell membrane;Golgi apparatus;Secreted NA 0 PE1 NX_O14503 45510 412 8.3 3 Cytoplasm;Nucleus NA 0 PE1 NX_O14508 22172 198 8.9 12 Endoplasmic reticulum NA 0 PE1 NX_O14511 91679 850 9.51 5 Nucleolus;Nucleus;Cell membrane;Secreted NA 1 PE1 NX_O14512 62969 581 8.35 17 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_O14513 208537 1909 8.34 2 Cytosol;Nucleolus;Golgi apparatus;Cell membrane NA 0 PE1 NX_O14514 173501 1584 8.27 8 Phagocytic cup;Secreted;Cell membrane;Focal adhesion;Dendritic spine;Postsynaptic density NA 7 PE1 NX_O14519 12365 115 9.41 12 Nucleoplasm NA 0 PE1 NX_O14520 37232 342 9.04 9 Membrane NA 6 PE1 NX_O14521 17043 159 8.92 11 Mitochondrion inner membrane Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 1;Mitochondrial complex II deficiency 3 PE1 NX_O14522 162134 1441 6.44 20 Membrane NA 1 PE1 NX_O14523 76181 706 7.61 11 Endoplasmic reticulum membrane;Nucleolus;Nucleus membrane;Cytosol;Cell membrane;Nucleus NA 1 PE1 NX_O14524 50640 444 6.56 12 Nucleoplasm;Nucleus inner membrane;Nucleus envelope NA 5 PE1 NX_O14525 144913 1302 5.09 1 Endosome;Perikaryon;Golgi apparatus;Cell membrane;Cytoplasmic vesicle;Clathrin-coated vesicle NA 2 PE1 NX_O14526 96861 889 6.51 19 Cytosol;Nucleoplasm;Clathrin-coated pit NA 0 PE1 NX_O14529 161677 1486 5.38 12 Nucleus NA 0 PE1 NX_O14530 26534 226 5.61 2 Cytosol;Cytoplasm;Nucleus;Centrosome;Midbody NA 0 PE1 NX_O14531 61878 572 6.64 10 Cytoplasmic vesicle;Cytoplasm;Mitochondrion NA 0 PE1 NX_O14543 24770 225 8.97 17 Cytosol NA 0 PE1 NX_O14544 59528 535 6.79 18 Cytosol;Nucleus speckle NA 0 PE1 NX_O14545 64841 582 5.19 12 Nucleoplasm;Cytosol NA 0 PE1 NX_O14548 12615 114 9.43 2 Mitochondrion;Nucleolus;Mitochondrion inner membrane NA 0 PE1 NX_O14556 44501 408 8.39 19 Nucleoplasm;Cytoplasm;Centrosome NA 0 PE1 NX_O14558 17136 160 5.95 19 Cytoplasm;Nucleus;Secreted NA 0 PE1 NX_O14559 137213 1287 9.05 19 Cytosol;Cytoskeleton;Cell membrane NA 0 PE1 NX_O14561 17417 156 4.82 16 Mitochondrion;Nucleoplasm NA 0 PE1 NX_O14562 33382 309 5.55 16 Nucleolus;Nucleus NA 0 PE1 NX_O14569 23974 222 9.93 3 Endoplasmic reticulum membrane;Cytoplasmic vesicle membrane NA 6 PE1 NX_O14576 72955 645 5 7 Kinetochore;Cytoplasm;Spindle pole NA 0 PE1 NX_O14578 231431 2027 6.16 12 Cytosol;Cytoplasm Microcephaly 17, primary, autosomal recessive 0 PE1 NX_O14579 34482 308 4.98 19 COPI-coated vesicle membrane;Cytoplasm;Golgi apparatus membrane;Golgi apparatus NA 0 PE1 NX_O14581 34013 309 6.48 19 Cell membrane NA 7 PE2 NX_O14593 28102 260 4.45 19 Nucleoplasm;Cytoplasm;Nucleus Bare lymphocyte syndrome 2 0 PE1 NX_O14594 143093 1321 5.22 19 Cytoplasmic vesicle;Centrosome;Secreted NA 0 PE1 NX_O14595 30664 271 5.34 12 Nucleoplasm;Nucleus NA 0 PE1 NX_O14598 12917 125 9.43 Y NA NA 0 PE1 NX_O14599 12063 106 10.19 Y NA NA 0 PE1 NX_O14602 16442 144 5.07 Y NA NA 0 PE1 NX_O14603 16512 147 8.27 Y NA NA 0 PE1 NX_O14604 5013 44 5.34 Y Cytoskeleton NA 0 PE1 NX_O14607 149548 1347 7.91 Y Nucleus NA 0 PE1 NX_O14609 18083 159 6.56 Y Membrane NA 3 PE2 NX_O14610 7747 69 6.27 17 Cell membrane NA 0 PE2 NX_O14613 22484 210 4.94 11 Cytosol;Cytoskeleton;Endomembrane system NA 0 PE1 NX_O14617 130158 1153 8.69 19 Cytosol;Cytoplasm;Golgi apparatus membrane Hermansky-Pudlak syndrome 10 0 PE1 NX_O14618 29041 274 5.32 11 Cytoplasm NA 0 PE1 NX_O14625 10365 94 9.94 4 Secreted NA 0 PE1 NX_O14626 36754 319 9.1 3 Cell membrane NA 7 PE1 NX_O14627 30480 284 9.03 X Nucleus NA 0 PE1 NX_O14628 72332 629 8.45 11 Cytosol;Nucleus NA 0 PE1 NX_O14633 11219 110 8.54 1 NA NA 0 PE1 NX_O14638 100124 875 6.12 6 Apical cell membrane;Cell membrane;Secreted NA 1 PE1 NX_O14639 87688 778 8.91 10 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 NX_O14640 75187 695 7.69 1 Cytoplasmic vesicle;Cytosol;Cell membrane Robinow syndrome, autosomal dominant 2 0 PE1 NX_O14641 78948 736 5.67 17 Nucleoplasm;Cytosol;Cytoplasmic vesicle;Nucleus;Cell membrane NA 0 PE1 NX_O14645 29662 258 8.73 1 Cilium NA 0 PE1 NX_O14646 196688 1710 6.68 5 Cytoplasm;Nucleolus;Nucleus Pilarowski-Bjornsson syndrome 0 PE1 NX_O14647 211344 1828 8.22 15 Nucleus Epileptic encephalopathy, childhood-onset 0 PE1 NX_O14649 43518 394 9.26 2 Cell membrane Pulmonary hypertension, primary, 4 4 PE1 NX_O14653 24775 212 7.86 17 Nucleoplasm;cis-Golgi network membrane;Endoplasmic reticulum membrane;Golgi apparatus membrane;Golgi apparatus Epilepsy, progressive myoclonic 6 1 PE1 NX_O14654 133768 1257 8.72 X Cell membrane NA 0 PE1 NX_O14656 37809 332 6.51 9 Nucleus membrane;Growth cone;Cytoplasmic vesicle;Secretory vesicle;Cytoskeleton;Endoplasmic reticulum lumen;Synaptic vesicle;Cytoplasmic vesicle membrane Dystonia 1, torsion, autosomal dominant 0 PE1 NX_O14657 37979 336 8.76 9 Cytosol;Nucleus speckle;Endoplasmic reticulum lumen;Nucleus membrane NA 0 PE1 NX_O14662 37031 325 5.75 20 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus membrane Pseudohypoparathyroidism 1B 1 PE1 NX_O14668 24947 218 5.13 X Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Membrane NA 1 PE1 NX_O14669 22393 202 5.22 19 Cytosol;Nucleolus;Nucleus;Membrane NA 1 PE1 NX_O14672 84142 748 8.04 15 Cytoplasmic vesicle;Golgi apparatus membrane;Cell membrane Reticulate acropigmentation of Kitamura;Alzheimer disease 18 1 PE1 NX_O14678 68597 606 6.12 14 Peroxisome membrane Methylmalonic aciduria and homocystinuria type cblJ 5 PE1 NX_O14681 38965 340 9.75 11 Endoplasmic reticulum membrane;Nucleus membrane;Golgi apparatus;Cytosol;Cytoplasm;Endoplasmic reticulum NA 5 PE1 NX_O14682 66130 589 6.4 5 Cytoplasm;Cytoskeleton;Nucleus matrix;Cell membrane NA 0 PE1 NX_O14683 21054 189 9.57 11 Endoplasmic reticulum;Golgi apparatus;Membrane NA 4 PE1 NX_O14684 17102 152 9.59 9 Endoplasmic reticulum;Membrane NA 4 PE1 NX_O14686 593389 5537 5.4 12 Cytosol;Nucleus;Cell membrane Kabuki syndrome 1 0 PE1 NX_O14709 118847 1029 8.91 3 Nucleoplasm;Nucleus NA 0 PE1 NX_O14713 21782 200 5.95 2 Ruffle;Cytosol;Cytoplasm;Cell membrane;Microtubule organizing center;Nucleoplasm;Nucleus;Lamellipodium;Cytoskeleton NA 0 PE1 NX_O14715 198993 1765 6.09 2 NA NA 0 PE1 NX_O14717 44597 391 5.78 10 Nucleolus;Nucleus;Centrosome NA 0 PE1 NX_O14718 37423 337 8.78 4 Membrane NA 7 PE1 NX_O14727 141840 1248 5.96 12 Cytosol;Cytoplasm;Golgi apparatus;Nucleoplasm NA 0 PE1 NX_O14730 59093 519 5.52 18 Cytosol;Cytoplasm;Cell membrane;Golgi apparatus;Microtubule organizing center NA 0 PE1 NX_O14732 31321 288 6.15 18 Mitochondrion;Nucleoplasm NA 0 PE1 NX_O14733 47485 419 9.26 19 Cytosol;Cytoplasm;Nucleus;Cell membrane;Golgi apparatus NA 0 PE1 NX_O14734 35914 319 7.22 20 Cytoplasmic vesicle;Cytoplasm;Mitochondrion;Peroxisome matrix NA 0 PE1 NX_O14735 23539 213 8.23 16 Endoplasmic reticulum membrane;Nucleus membrane;Nucleoplasm;Cell membrane;Golgi apparatus membrane;Membrane NA 5 PE1 NX_O14737 14285 125 5.77 19 Cytosol;Nucleus NA 0 PE1 NX_O14744 72684 637 5.88 14 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_O14745 38868 358 5.55 17 Apical cell membrane;Ruffle;Microvillus;Cytoplasm;Cell membrane;Microtubule organizing center;Cytoplasmic vesicle;Filopodium;Endomembrane system Nephrolithiasis/osteoporosis, hypophosphatemic, 2 0 PE1 NX_O14746 126997 1132 10.54 5 PML body;Nucleolus;Nucleus speckle;Nucleoplasm;Cytoplasm;Telomere;Cytosol;Nucleus Pulmonary fibrosis, idiopathic;Dyskeratosis congenita, autosomal recessive, 4;Dyskeratosis congenita, autosomal dominant, 2;Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1;Melanoma, cutaneous malignant 9;Aplastic anemia 0 PE1 NX_O14753 30259 267 9.02 11 Nucleus NA 0 PE1 NX_O14756 35966 317 8.94 12 Cytoplasmic vesicle;Microsome membrane;Early endosome membrane;Nucleus NA 0 PE1 NX_O14757 54434 476 8.5 11 Cytoplasmic vesicle;Cytoplasm;Nucleus;Centrosome;Nucleoplasm NA 0 PE1 NX_O14763 47878 440 5.39 8 Membrane Squamous cell carcinoma of the head and neck 1 PE1 NX_O14764 50708 452 8.7 1 Cytoplasmic vesicle;Postsynaptic cell membrane;Cell membrane;Golgi apparatus Epilepsy, idiopathic generalized 10;Generalized epilepsy with febrile seizures plus 5;Juvenile myoclonic epilepsy 7 4 PE1 NX_O14770 51790 477 5.92 15 Cytosol;Nucleoplasm;Perinuclear region;Nucleus Cleft palate, cardiac defects, and mental retardation 0 PE1 NX_O14771 51263 459 6.48 16 Cytosol;Cytoplasmic vesicle;Nucleus;Nucleus membrane NA 0 PE1 NX_O14772 68010 607 6.45 1 Cytoplasm NA 0 PE1 NX_O14773 61248 563 6.01 11 Cytoplasm;Melanosome;Lysosome Ceroid lipofuscinosis, neuronal, 2;Spinocerebellar ataxia, autosomal recessive, 7 0 PE1 NX_O14775 43566 395 6.02 15 Cytoplasm;Nucleus speckle;Nucleus;Centrosome;Membrane Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia;Intellectual developmental disorder with cardiac arrhythmia 0 PE1 NX_O14776 123901 1098 8.71 5 Nucleoplasm;Nucleus NA 0 PE1 NX_O14777 73913 642 5.48 18 Kinetochore;Nucleoplasm;Nucleus;Centrosome NA 0 PE1 NX_O14782 89426 793 8.28 2 Cytoskeleton;Nucleus;Nucleus membrane NA 0 PE1 NX_O14786 103134 923 5.58 10 Mitochondrion;Cell membrane;Endoplasmic reticulum;Secreted NA 1 PE1 NX_O14787 101388 897 4.87 19 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_O14788 35478 317 7.25 13 Cytoplasm;Cell membrane;Secreted Osteopetrosis, autosomal recessive 2 1 PE1 NX_O14791 43974 398 5.6 22 Secreted Focal segmental glomerulosclerosis 4 0 PE1 NX_O14792 35773 307 8.91 4 Cytoplasmic vesicle;Golgi apparatus lumen NA 0 PE1 NX_O14793 42750 375 6.35 2 Secreted Muscle hypertrophy 0 PE1 NX_O14795 180679 1591 5.67 9 Synapse;Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Membrane NA 0 PE1 NX_O14796 15297 132 8.97 1 NA NA 0 PE1 NX_O14798 27407 259 4.79 8 Cell membrane NA 0 PE1 NX_O14802 155641 1390 8.76 10 Nucleoplasm;Nucleus Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 0 PE1 NX_O14804 38242 337 8.49 6 Cell membrane NA 7 PE2 NX_O14807 23846 208 8.82 3 Cell membrane NA 0 PE1 NX_O14810 15030 134 4.93 4 Cytosol Epileptic encephalopathy, early infantile, 63 0 PE1 NX_O14813 29653 284 8.98 11 Cytoplasmic vesicle;Nucleus;Nucleus membrane Fibrosis of extraocular muscles, congenital, 2 0 PE1 NX_O14815 79097 690 5.37 1 NA NA 0 PE1 NX_O14817 26118 238 6.07 11 Membrane NA 4 PE1 NX_O14818 27887 248 8.6 20 Cytoplasm;Nucleus NA 0 PE1 NX_O14827 140764 1237 7.37 5 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum;Cell membrane NA 0 PE1 NX_O14828 38287 347 7.55 1 Cytoplasmic vesicle;Membrane NA 4 PE1 NX_O14829 75792 653 6.37 X Cytoskeleton;Cell membrane NA 0 PE1 NX_O14830 86518 753 6.7 4 Photoreceptor inner segment;Cytoplasm;Photoreceptor outer segment NA 0 PE1 NX_O14832 38538 338 8.71 10 Peroxisome Refsum disease 0 PE1 NX_O14836 31816 293 8.35 17 Membrane Immunoglobulin A deficiency 2;Immunodeficiency, common variable, 2 1 PE1 NX_O14841 137457 1288 6.12 8 Nucleolus 5-oxoprolinase deficiency 0 PE1 NX_O14842 31457 300 9.63 19 Cell membrane NA 7 PE1 NX_O14843 38649 346 8 19 Cell membrane NA 7 PE1 NX_O14862 38954 343 9.79 1 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus;Cytosol NA 0 PE1 NX_O14863 47483 429 6.11 15 Endosome membrane;Lysosome membrane;Late endosome membrane NA 6 PE1 NX_O14867 81958 736 4.95 21 Cytosol;Nucleus NA 0 PE1 NX_O14874 46360 412 8.97 16 Mitochondrion matrix;Mitochondrion Branched-chain ketoacid dehydrogenase kinase deficiency 0 PE1 NX_O14879 55985 490 5.12 10 Mitochondrion;Cytoplasm;Cytosol NA 0 PE1 NX_O14880 16516 152 9.46 1 Endoplasmic reticulum membrane;Microsome membrane NA 3 PE1 NX_O14893 31585 280 5.43 14 Cytoplasm;Nucleolus;Nucleus;Gem NA 0 PE1 NX_O14894 20823 197 8.56 17 Nucleoplasm;Cell junction;Cell membrane;Membrane NA 4 PE2 NX_O14896 53130 467 5.18 1 Cytosol;Cytoplasm;Nucleus Non-syndromic orofacial cleft 6;Popliteal pterygium syndrome;Van der Woude syndrome 1 0 PE1 NX_O14901 55139 512 8.45 2 Nucleoplasm;Cytosol;Focal adhesion;Nucleus Maturity-onset diabetes of the young 7 0 PE1 NX_O14904 40320 365 9.08 1 Extracellular matrix;Secreted NA 0 PE1 NX_O14905 39001 357 9.2 17 Secreted;Extracellular matrix NA 0 PE1 NX_O14907 13735 124 8.05 17 Nucleolus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Cytoskeleton NA 0 PE1 NX_O14908 36049 333 5.9 19 Cytoplasm;Nucleus;Cell junction;Cell membrane;Membrane NA 0 PE1 NX_O14910 25997 233 8.83 12 Synaptosome;Basolateral cell membrane;Cell membrane;Postsynaptic density;Cell junction;Tight junction NA 0 PE1 NX_O14917 126229 1159 5.03 13 Cytoplasmic vesicle;Cytosol;Cell membrane NA 1 PE1 NX_O14920 86564 756 5.58 8 Cytosol;Cytoplasm;Nucleus;Membrane raft Immunodeficiency 15 0 PE1 NX_O14921 19135 159 9.07 1 NA NA 0 PE2 NX_O14924 156357 1447 7.2 4 Synapse;Nucleolus;Cytoplasm;Dendrite;Nucleus matrix;Nucleus NA 0 PE1 NX_O14925 21943 209 8.81 10 Mitochondrion;Mitochondrion inner membrane NA 3 PE1 NX_O14926 55057 492 7.95 17 Cytoskeleton;Stereocilium Retinitis pigmentosa 30 0 PE1 NX_O14929 49513 419 5.52 2 Nucleus matrix;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_O14931 21593 201 9.17 6 Cell membrane NA 1 PE1 NX_O14933 17769 153 7.72 11 Cytosol NA 0 PE1 NX_O14936 105123 926 5.99 X Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm Mental retardation and microcephaly with pontine and cerebellar hypoplasia;FG syndrome 4 0 PE1 NX_O14939 105987 933 7.41 17 Membrane NA 0 PE1 NX_O14944 19044 169 7.49 4 Cytoplasmic vesicle;Extracellular space;Cell membrane NA 1 PE1 NX_O14948 38788 347 5.3 7 Nucleoplasm;Nucleus NA 0 PE1 NX_O14949 9906 82 10.07 5 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 4 0 PE1 NX_O14950 19779 172 4.71 18 Cytoplasm NA 0 PE1 NX_O14957 6570 56 9.87 19 Mitochondrion inner membrane NA 1 PE1 NX_O14958 46436 399 4.22 1 Sarcoplasmic reticulum lumen Ventricular tachycardia, catecholaminergic polymorphic, 2 0 PE1 NX_O14960 16390 151 9.49 5 Cytoplasm;Secreted NA 0 PE1 NX_O14964 86192 777 5.84 17 Endosome;Lysosome;Cytosol;Cytoplasm;Early endosome membrane;Multivesicular body membrane NA 0 PE1 NX_O14965 45809 403 9.45 20 Cytosol;Spindle pole;Centriole;Nucleus;Centrosome;Cilium basal body NA 0 PE1 NX_O14966 23155 203 6.73 1 Nucleolus;Nucleus membrane;Golgi apparatus;Cytoplasm;Cell membrane;Vacuole;Perinuclear region;trans-Golgi network;Cytoskeleton NA 0 PE1 NX_O14967 70039 610 4.58 4 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 NX_O14972 33010 297 7.6 21 Mitochondrion NA 0 PE1 NX_O14974 115281 1030 5.31 12 Cytosol;Cytoplasm;Cytoskeleton;Stress fiber NA 0 PE1 NX_O14975 70312 620 8.75 15 Endoplasmic reticulum membrane;Peroxisome membrane NA 3 PE1 NX_O14976 143191 1311 5.49 4 Cytoplasmic vesicle;Perinuclear region;Focal adhesion;Golgi apparatus;trans-Golgi network NA 0 PE1 NX_O14977 49535 448 4.66 8 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_O14978 77299 683 6.54 16 Nucleoplasm;Cytosol;Spindle;Nucleus NA 0 PE1 NX_O14979 46438 420 9.59 4 Nucleoplasm;Cytoplasm;Nucleus Limb-girdle muscular dystrophy 1G 0 PE1 NX_O14980 123386 1071 5.71 2 Cajal body;Nucleolus;Nucleus membrane;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 NX_O14981 206887 1849 6.08 10 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_O14983 110252 1001 5.07 16 Endoplasmic reticulum membrane;Endoplasmic reticulum;Sarcoplasmic reticulum membrane Brody myopathy 10 PE1 NX_O14986 61036 540 6.39 9 Cytoplasmic vesicle;Nucleus;Endomembrane system NA 0 PE1 NX_O14990 22660 202 5.04 X NA NA 0 PE1 NX_O14994 63303 580 9.42 22 Synaptic vesicle membrane NA 0 PE1 NX_O15013 151612 1369 5.46 8 Nucleoplasm Slowed nerve conduction velocity 0 PE1 NX_O15014 151191 1411 8.24 15 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_O15015 200762 1829 6.97 16 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_O15016 134663 1216 6.53 11 Nucleoplasm;Nucleus NA 0 PE1 NX_O15018 301641 2839 7.14 5 Secreted;Cytosol;Cytoplasm;Cell membrane;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_O15020 271325 2390 5.79 11 Cytosol;Cytoskeleton;Cell cortex;Cell junction Spinocerebellar ataxia 5;Spinocerebellar ataxia, autosomal recessive, 14 0 PE1 NX_O15021 284097 2623 8.85 5 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 NX_O15027 251894 2357 5.51 9 Endoplasmic reticulum membrane;Microsome membrane;Golgi apparatus;Cytosol;Endoplasmic reticulum;Perinuclear region;Golgi apparatus membrane NA 0 PE1 NX_O15031 205127 1838 5.85 22 Cell membrane NA 1 PE1 NX_O15033 94223 823 6.85 14 Cytosol NA 0 PE1 NX_O15034 116026 1052 5.16 12 Synapse;Cell membrane NA 0 PE1 NX_O15037 74534 678 6.57 14 Cytosol;Nucleoplasm NA 0 PE1 NX_O15040 153848 1411 5.34 14 Nucleus Spastic paraplegia 49, autosomal recessive 0 PE1 NX_O15041 89228 775 7.2 7 Cytoplasmic vesicle;Nucleoplasm;Secreted NA 0 PE1 NX_O15042 118292 1029 8.59 3 Nucleoplasm;Nucleus NA 0 PE1 NX_O15047 186034 1707 5.07 16 Nucleus speckle;Chromosome NA 0 PE1 NX_O15049 60470 544 8.33 5 Nucleoplasm;Cytoplasmic vesicle;Axon;Centrosome;Dendrite NA 0 PE1 NX_O15050 336221 2925 6.34 3 Nucleoplasm NA 0 PE1 NX_O15054 176632 1643 8.83 17 Nucleus speckle;Nucleus NA 0 PE1 NX_O15055 136579 1255 6.04 2 Cytoplasm;Perinuclear region;Nucleolus;Nucleus Advanced sleep phase syndrome, familial, 1 0 PE1 NX_O15056 165538 1496 6.96 6 Cytosol;Cytoplasm;Cell membrane;Axon;Cytoskeleton;Membrane raft NA 0 PE1 NX_O15060 79001 712 6.06 12 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_O15061 172768 1565 5.09 15 Adherens junction;Cytoskeleton NA 0 PE1 NX_O15062 74278 677 5.79 9 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_O15063 116020 1070 6.72 19 Nucleoplasm;Cytoplasm NA 0 PE1 NX_O15066 85125 747 7.3 20 Nucleoplasm;Cytoskeleton;Nucleolus;Cilium;Golgi apparatus NA 0 PE1 NX_O15067 144734 1338 5.5 17 Nucleoplasm;Cytoplasm;Cell membrane NA 0 PE1 NX_O15068 128109 1137 6.02 13 Cytoplasm;Cell membrane;Endomembrane system NA 0 PE1 NX_O15069 161101 1562 4.12 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_O15072 135603 1205 6.76 4 Cytoskeleton;Extracellular matrix NA 0 PE1 NX_O15075 82224 740 8.84 13 Cytosol;Nucleoplasm NA 0 PE1 NX_O15078 290386 2479 5.75 12 Centriole;Cilium;Cytoplasmic vesicle;Centriolar satellite;Nucleus;Centrosome;Cilium basal body Leber congenital amaurosis 10;Meckel syndrome 4;Senior-Loken syndrome 6;Bardet-Biedl syndrome 14;Joubert syndrome 5 0 PE1 NX_O15079 53537 494 5.41 20 Mitochondrion;Synaptosome;Cytoskeleton;Membrane NA 1 PE1 NX_O15083 110558 957 6.51 3 Synaptosome;Cytoskeleton;Synapse;Cytoplasm NA 0 PE1 NX_O15084 112966 1053 5.8 3 Nucleoplasm NA 0 PE1 NX_O15085 167704 1522 5.33 1 Cytoplasm;Cell membrane;Golgi apparatus;Membrane NA 0 PE1 NX_O15090 141417 1300 6.86 19 Nucleus;Cell junction NA 0 PE1 NX_O15091 67315 583 8.97 14 Mitochondrion;Nucleus NA 0 PE1 NX_O15105 46426 426 8.63 18 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Colorectal cancer 3 0 PE1 NX_O15111 84640 745 6.27 10 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytoplasm Cocoon syndrome 0 PE1 NX_O15116 15179 133 5.11 8 Cytosol;Cytoplasmic vesicle;P-body;Cytoplasm NA 0 PE1 NX_O15117 85387 783 6.11 5 Cytoplasm;Nucleus;Cell junction Thrombocytopenia 3 0 PE1 NX_O15118 142167 1278 5.17 18 Cytoplasmic vesicle;Late endosome membrane;Lysosome membrane;Nucleus Niemann-Pick disease C1 13 PE1 NX_O15119 79389 743 8.3 12 Cytosol;Nucleoplasm;Nucleus Ulnar-mammary syndrome 0 PE1 NX_O15120 30914 278 9.21 9 Endoplasmic reticulum membrane;Centrosome Congenital generalized lipodystrophy 1 3 PE1 NX_O15121 37866 323 6.97 1 Endoplasmic reticulum membrane;Mitochondrion;Membrane NA 6 PE1 NX_O15123 56919 496 5.41 8 Secreted NA 0 PE1 NX_O15126 37920 338 7.03 5 Cytoplasmic vesicle;Recycling endosome membrane;trans-Golgi network membrane;Cell junction;Nucleoplasm NA 4 PE1 NX_O15127 36649 329 5.72 15 Cytoplasmic vesicle;Recycling endosome membrane;trans-Golgi network membrane;Golgi apparatus;Cell membrane NA 4 PE1 NX_O15130 12440 113 5.04 12 Secreted NA 0 PE2 NX_O15131 60349 536 5.07 6 Cytosol;Cytoplasm NA 0 PE1 NX_O15143 40950 372 8.68 7 Cytoplasmic vesicle;Cytosol;Cytoskeleton;Nucleus Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 0 PE1 NX_O15144 34333 300 6.84 2 Synaptosome;Golgi apparatus;Cytosol;Cytoplasm;Nucleus;Cytoskeleton;Cell projection NA 0 PE1 NX_O15145 20547 178 8.78 12 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus;Cell projection NA 0 PE1 NX_O15146 97056 869 6.96 9 Postsynaptic cell membrane Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Fetal akinesia deformation sequence 1 PE1 NX_O15151 54864 490 4.85 1 Nucleus NA 0 PE1 NX_O15155 13289 118 9.14 7 Endoplasmic reticulum membrane;cis-Golgi network membrane;Golgi apparatus membrane NA 1 PE1 NX_O15156 58027 539 5.53 1 Nucleoplasm;Nucleus NA 0 PE1 NX_O15160 39250 346 5.31 6 Nucleus Treacher Collins syndrome 3;Leukodystrophy, hypomyelinating, 11 0 PE1 NX_O15162 35049 318 4.83 3 Golgi apparatus;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Membrane NA 1 PE1 NX_O15164 116831 1050 6.73 7 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_O15165 33900 306 5.86 18 Cytoplasmic vesicle;Nucleoplasm;Early endosome membrane NA 1 PE1 NX_O15169 95635 862 6.5 16 Nucleolus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Membrane Hepatocellular carcinoma;Caudal duplication anomaly 0 PE1 NX_O15172 7804 72 6.02 7 NA NA 0 PE5 NX_O15173 23818 223 4.76 4 Cytosol;Nucleus;Cell membrane;Membrane NA 1 PE1 NX_O15178 47443 435 6.62 6 Nucleus Neural tube defects;Sacral agenesis with vertebral anomalies;Chordoma 0 PE1 NX_O15182 19550 167 4.62 5 Centriole;Nucleolus;Centrosome NA 0 PE1 NX_O15194 31129 276 5.32 3 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_O15195 95907 856 6.55 3 NA NA 0 PE1 NX_O15197 110700 1021 6.19 7 Nucleus speckle;Secreted;Membrane NA 1 PE1 NX_O15198 52493 467 7.87 13 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Pulmonary hypertension, primary, 2 0 PE1 NX_O15204 52775 470 7.01 8 Secreted NA 0 PE1 NX_O15205 18473 165 9.08 6 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_O15209 65602 634 5.93 6 Nucleoplasm;Nucleus NA 0 PE1 NX_O15211 83549 777 5.82 6 Nucleoplasm NA 0 PE1 NX_O15212 14583 129 8.83 6 Nucleus;Golgi apparatus NA 0 PE1 NX_O15213 68071 610 9.69 6 Nucleolus NA 0 PE1 NX_O15217 25704 222 7.89 6 Cytoplasm NA 0 PE1 NX_O15218 45323 404 7.28 12 Cell membrane NA 7 PE2 NX_O15225 5365 51 7 X NA NA 0 PE5 NX_O15226 77673 690 8.94 X Nucleolus;Nucleus NA 0 PE1 NX_O15228 77188 680 6.16 1 Peroxisome membrane Rhizomelic chondrodysplasia punctata 2 0 PE1 NX_O15229 55810 486 9.18 1 Mitochondrion outer membrane NA 2 PE1 NX_O15230 399737 3695 6.66 20 Cytoplasmic vesicle;Nucleoplasm;Basement membrane NA 0 PE1 NX_O15231 73525 689 6.68 X Focal adhesion;Cytoskeleton NA 0 PE1 NX_O15232 52817 486 6.25 2 Golgi apparatus;Endoplasmic reticulum;Secreted Multiple epiphyseal dysplasia 5;Spondyloepimetaphyseal dysplasia MATN3-related;Osteoarthritis 2 0 PE1 NX_O15234 76278 703 6.05 17 Nucleus speckle;Nucleus membrane;Stress granule;Cytoplasm;Cytoplasmic ribonucleoprotein granule;Dendrite;Perinuclear region;Nucleus NA 0 PE1 NX_O15235 15173 138 10.31 19 Mitochondrion NA 0 PE1 NX_O15239 8072 70 8.93 X Cytosol;Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency 1 PE1 NX_O15240 67258 615 4.76 7 Cytoplasmic vesicle;Secretory vesicle;Golgi apparatus;Secreted NA 0 PE1 NX_O15243 14254 131 6.01 1 Endosome membrane;Golgi apparatus membrane;Centrosome NA 4 PE1 NX_O15244 62581 555 8.68 6 Membrane NA 12 PE1 NX_O15245 61154 554 6.4 6 Basolateral cell membrane NA 12 PE1 NX_O15247 28356 247 5.44 X Cytoplasm;Nucleus;Cell membrane;Membrane Mental retardation, X-linked, syndromic, 32 1 PE1 NX_O15254 77629 700 6.84 4 Peroxisome NA 0 PE1 NX_O15255 22278 209 8.56 X Cell membrane NA 0 PE2 NX_O15258 22958 196 9.56 1 Golgi apparatus membrane;Golgi apparatus NA 3 PE1 NX_O15259 83299 732 5.11 2 Cytoplasmic vesicle;Tight junction;Cilium;Cilium axoneme;Adherens junction Nephronophthisis 1;Senior-Loken syndrome 1;Joubert syndrome 4 0 PE1 NX_O15260 30394 269 7.64 9 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 5 PE1 NX_O15263 7038 64 9.46 8 Secreted NA 0 PE1 NX_O15264 42090 365 8.48 6 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_O15265 95451 892 9.89 3 Nucleolus;Cytosol;Cytoplasm;Nucleoplasm;Nucleus matrix;Nucleus;Cytoskeleton Spinocerebellar ataxia 7 0 PE1 NX_O15266 32236 292 7.23 X Cytoplasmic vesicle;Nucleoplasm;Nucleus Leri-Weill dyschondrosteosis;Langer mesomelic dysplasia;Short stature, idiopathic, X-linked 0 PE1 NX_O15269 52744 473 5.72 9 Endoplasmic reticulum membrane;Endoplasmic reticulum Neuropathy, hereditary sensory and autonomic, 1A 1 PE1 NX_O15270 62924 562 7.89 14 Mitochondrion;Endoplasmic reticulum membrane Neuropathy, hereditary sensory and autonomic, 1C 1 PE1 NX_O15273 19052 167 5.2 17 Sarcomere Cardiomyopathy, familial hypertrophic 25;Limb-girdle muscular dystrophy 2G 0 PE1 NX_O15287 68554 622 5.32 9 Cytosol;Cytoplasm;Nucleolus;Nucleus;Cell membrane Fanconi anemia complementation group G 0 PE1 NX_O15294 116925 1046 6.22 X Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;Membrane;Mitochondrion;Cell projection;Mitochondrion membrane Mental retardation, X-linked 106 0 PE1 NX_O15296 75857 676 5.73 17 Cytosol;Cytoskeleton;Nucleus;Cell membrane;Membrane NA 0 PE1 NX_O15297 66675 605 9.14 17 Cytosol;Nucleus;Endoplasmic reticulum Ovarian cancer;Breast cancer;Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 PE1 NX_O15303 95468 877 8.34 5 Endoplasmic reticulum membrane;Dendrite;Golgi apparatus membrane;Cell membrane Night blindness, congenital stationary, 1B 7 PE1 NX_O15304 18695 175 7.86 14 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_O15305 28082 246 6.35 16 Cytosol;Cytoplasm;Nucleus Congenital disorder of glycosylation 1A 0 PE1 NX_O15315 42196 384 5.49 14 Nucleoplasm;Nucleus NA 0 PE1 NX_O15318 25914 223 4.53 5 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_O15320 90996 804 5.15 14 Endoplasmic reticulum membrane NA 1 PE1 NX_O15321 68861 606 6.7 14 Autophagosome membrane;Lysosome membrane;Golgi apparatus NA 9 PE1 NX_O15327 104738 924 5.87 4 Cytoplasm;Centrosome NA 0 PE1 NX_O15335 40476 359 9.49 17 Extracellular matrix NA 0 PE1 NX_O15342 9374 81 8.96 5 Membrane NA 2 PE2 NX_O15344 75251 667 6.35 X Cytoplasm;Cytoskeleton;Spindle Opitz GBBB syndrome 1 0 PE1 NX_O15347 22980 200 8.48 X Cytoplasm;Nucleolus;Nucleus;Chromosome Microphthalmia, syndromic, 13 0 PE1 NX_O15350 69623 636 6.47 1 Nucleoplasm;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_O15353 68925 648 5.93 17 Nucleus T-cell immunodeficiency, congenital alopecia, and nail dystrophy 0 PE1 NX_O15354 67114 613 8.68 7 Endoplasmic reticulum membrane;Cytosol;Nucleus membrane;Cell membrane NA 7 PE1 NX_O15355 59272 546 4.28 2 Nucleoplasm;Cytoplasm;Membrane NA 0 PE1 NX_O15357 138599 1258 6.1 11 Golgi apparatus;Cytosol;Filopodium;Membrane;Lamellipodium;Cytoskeleton Opsismodysplasia;Diabetes mellitus, non-insulin-dependent 0 PE1 NX_O15360 162775 1455 6.13 16 Cytoplasm;Nucleus Fanconi anemia, complementation group A 0 PE1 NX_O15370 34122 315 5.08 20 Nucleoplasm;Nucleus NA 0 PE1 NX_O15371 63973 548 5.79 22 Cytosol;Cytoplasm NA 0 PE1 NX_O15372 39930 352 6.09 8 Cytosol;Cytoplasm NA 0 PE1 NX_O15374 54022 487 8.25 1 Cytosol;Cytoskeleton;Cell membrane NA 12 PE1 NX_O15375 54994 505 8.59 17 Cell membrane NA 12 PE1 NX_O15379 48848 428 4.98 5 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleoplasm NA 0 PE1 NX_O15381 95051 856 6.11 1 Nucleoplasm;Nucleolus NA 0 PE1 NX_O15382 44288 392 8.88 19 Mitochondrion;Cytoplasm NA 0 PE1 NX_O15389 60715 551 7.01 19 Membrane NA 1 PE1 NX_O15391 41347 372 5.76 X Nucleus NA 0 PE1 NX_O15392 16389 142 5.66 17 Kinetochore;Cytoplasm;Midbody;Nucleus;Spindle;Centromere;Cytoskeleton;Chromosome NA 0 PE1 NX_O15393 53859 492 8.12 21 Nucleoplasm;Cell junction;Cell membrane;Secreted NA 1 PE1 NX_O15394 93046 837 5.44 21 Nucleus;Cell membrane NA 1 PE1 NX_O15397 119938 1037 5.04 12 Cytoplasm;Nucleus NA 0 PE1 NX_O15399 143752 1336 8.68 19 Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, early infantile, 46 3 PE1 NX_O15400 29816 261 5.41 6 Early endosome membrane;Lysosome NA 1 PE1 NX_O15403 57393 523 7.95 17 Cytoplasmic vesicle;Cell membrane NA 12 PE1 NX_O15405 63342 576 7.36 16 Nucleoplasm;Nucleus NA 0 PE1 NX_O15409 79919 715 6.06 7 Nucleoplasm;Nucleus Speech-language disorder 1 0 PE1 NX_O15417 314519 2968 8.88 7 Nucleoplasm;Cytosol;Mitochondrion;Nucleus membrane NA 0 PE1 NX_O15427 49469 465 8.23 17 Nucleus membrane;Cell membrane NA 12 PE1 NX_O15428 11021 100 9.59 1 NA NA 0 PE5 NX_O15431 21091 190 6.89 9 Cell membrane NA 3 PE1 NX_O15432 15681 143 6.25 9 Nucleus speckle;Cytoskeleton;Cell membrane;Membrane NA 3 PE1 NX_O15438 169343 1527 6.79 17 Cell membrane;Membrane NA 17 PE1 NX_O15439 149527 1325 8.41 13 Membrane NA 14 PE1 NX_O15440 160660 1437 8.87 3 Nucleus;Cell junction;Cell membrane;Membrane NA 13 PE1 NX_O15442 37207 326 6.17 22 NA NA 0 PE2 NX_O15444 16609 150 10.2 19 Secreted NA 0 PE1 NX_O15446 54986 510 8.66 19 Mitochondrion;Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_O15455 103829 904 6.73 4 Endosome membrane;Endoplasmic reticulum membrane;Early endosome Encephalopathy, acute, infection-induced, Herpes-specific, 2 1 PE1 NX_O15457 104756 936 7.16 1 NA NA 0 PE1 NX_O15460 60902 535 5.49 5 Cytoplasmic vesicle;Endoplasmic reticulum lumen;Endoplasmic reticulum Myopia 25, autosomal dominant 0 PE1 NX_O15466 43895 376 9.19 18 Golgi apparatus membrane;Midbody;Cell membrane NA 1 PE1 NX_O15467 13600 120 9.61 17 Secreted NA 0 PE1 NX_O15479 35277 319 8.87 X Cytosol;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 NX_O15480 39211 346 10.07 X NA NA 0 PE1 NX_O15481 38923 346 9.28 X Cytoplasm NA 0 PE1 NX_O15482 46131 410 5.86 X Membrane NA 1 PE2 NX_O15484 73169 640 7.57 11 NA Vitreoretinopathy, neovascular inflammatory 0 PE1 NX_O15488 55184 501 4.97 X Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_O15492 22749 202 6.18 1 Cytosol;Membrane NA 0 PE1 NX_O15496 18153 165 6.07 16 Secreted NA 0 PE1 NX_O15498 22418 198 6.44 7 Cytosol;Mitochondrion;Cytoplasmic vesicle membrane;Golgi apparatus membrane NA 0 PE1 NX_O15499 21545 205 10.58 22 Nucleus NA 0 PE2 NX_O15503 29987 277 9.08 7 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 6 PE1 NX_O15504 44872 423 9.25 7 Nuclear pore complex;Nucleus;Nucleus membrane NA 0 PE1 NX_O15511 16320 151 5.47 1 Cytosol;Cell membrane;Cytoplasmic vesicle;Nucleus;Cytoskeleton;Cell projection;Cell junction NA 0 PE1 NX_O15514 16311 142 4.75 2 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_O15516 95304 846 6.51 4 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_O15519 55344 480 8.19 2 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_O15520 23436 208 9.61 5 Secreted Aplasia of lacrimal and salivary glands;Lacrimo-auriculo-dento-digital syndrome 0 PE1 NX_O15522 25866 239 9.47 14 Nucleoplasm;Nucleus;Cell membrane NA 0 PE2 NX_O15523 73154 660 7.24 Y Cytoplasm;Nucleus NA 0 PE1 NX_O15524 23551 211 10.98 16 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytosol NA 0 PE1 NX_O15525 17850 162 10.04 17 Nucleus NA 0 PE1 NX_O15527 38782 345 8.89 3 Nucleoplasm;Nucleus;Mitochondrion;Nucleus matrix;Nucleus speckle Renal cell carcinoma 0 PE1 NX_O15528 56504 508 9.34 12 Mitochondrion membrane Rickets vitamin D-dependent 1A 0 PE1 NX_O15529 38695 346 7.55 19 Cell membrane NA 7 PE1 NX_O15530 63152 556 6.95 16 Cytoplasmic vesicle;Cytoplasm;Focal adhesion;Nucleus;Cell membrane NA 0 PE1 NX_O15533 47626 448 6.68 6 Endoplasmic reticulum membrane Bare lymphocyte syndrome 1 1 PE1 NX_O15534 136212 1290 5.73 17 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 NX_O15535 45954 394 6.94 6 Nucleoplasm;Nucleus NA 0 PE1 NX_O15537 25592 224 5.51 X Cell membrane;Secreted Retinoschisis juvenile X-linked 1 0 PE1 NX_O15539 20946 181 6.85 1 Cytosol;Cytoplasm;Nucleus;Membrane NA 0 PE1 NX_O15540 14889 132 5.4 6 Cytoplasm NA 0 PE1 NX_O15541 38787 343 5.51 X Nucleoplasm;Nucleus speckle Trichothiodystrophy 5, non-photosensitive 0 PE1 NX_O15544 16056 149 6.27 3 NA NA 0 PE2 NX_O15547 48829 441 7.52 22 Cytosol;Nucleolus;Membrane NA 2 PE1 NX_O15550 154177 1401 7.17 X Nucleus Kabuki syndrome 2 0 PE1 NX_O15551 23319 220 8.37 7 Tight junction;Cell membrane;Cell junction NA 4 PE1 NX_O15552 37144 330 9.5 19 Cell membrane NA 7 PE1 NX_O15553 86444 781 8.3 16 Ruffle;Cytoplasm;Nucleus;Autophagosome;Lamellipodium;Cytoskeleton Familial Mediterranean fever, autosomal dominant;Familial Mediterranean fever, autosomal recessive 0 PE1 NX_O15554 47696 427 9.87 19 Cell membrane Dehydrated hereditary stomatocytosis 2 6 PE1 NX_O42043 63671 560 7.83 1 Virion;Cell membrane NA 1 PE1 NX_O43143 90933 795 7.12 4 Nucleus speckle;Nucleolus;Nucleus NA 0 PE1 NX_O43147 113285 1006 6.2 17 Nucleoplasm;Cytoplasm;Melanosome;Cytosol NA 0 PE1 NX_O43148 54844 476 6.29 18 Nucleoplasm;Nucleus NA 0 PE1 NX_O43149 331075 2961 5.62 17 Mitochondrion;Nucleoplasm NA 0 PE1 NX_O43150 111651 1006 6.24 2 Cytosol;Cytoplasm;Cell membrane;Golgi stack membrane NA 0 PE1 NX_O43151 179350 1660 7.01 2 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_O43155 74049 660 7.88 14 Endoplasmic reticulum membrane;Synaptosome;Extracellular matrix;Secreted;Cell membrane;Focal adhesion;Microsome membrane NA 1 PE1 NX_O43156 122069 1089 5.63 20 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 NX_O43157 232298 2135 5.29 3 Cell membrane;Secreted NA 1 PE1 NX_O43159 50715 456 9.51 11 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_O43164 78214 708 4.28 5 Endoplasmic reticulum membrane;Synapse;Cytoplasm;Cell membrane;Golgi apparatus membrane;Postsynaptic density;Cytoskeleton NA 0 PE1 NX_O43166 200029 1804 8.4 14 Synaptosome;Cytoskeleton;Cell membrane;Postsynaptic density NA 0 PE1 NX_O43167 78282 697 7.42 6 Cytoskeleton;Nucleus;Centrosome Immunodeficiency-centromeric instability-facial anomalies syndrome 2 0 PE1 NX_O43169 16332 146 4.88 16 Cytosol;Mitochondrion outer membrane;Endoplasmic reticulum;Microtubule organizing center NA 1 PE1 NX_O43172 58449 522 7.05 9 Nucleus speckle;Nucleus Retinitis pigmentosa 70 0 PE1 NX_O43173 43970 380 9.56 18 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_O43174 56199 497 8.96 10 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_O43175 56650 533 6.29 1 Nucleoplasm;Cytosol;Cell membrane Neu-Laxova syndrome 1;Phosphoglycerate dehydrogenase deficiency 0 PE1 NX_O43181 20108 175 10.3 5 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency;Leigh syndrome 0 PE1 NX_O43182 105947 974 7 X Cytoplasm NA 0 PE1 NX_O43184 99542 909 8.79 10 Cell membrane;Secreted NA 1 PE1 NX_O43186 32261 299 9.23 19 Nucleus Cone-rod dystrophy 2;Retinitis pigmentosa;Leber congenital amaurosis 7 0 PE1 NX_O43187 69433 625 5.51 3 Cytoplasmic vesicle NA 0 PE1 NX_O43189 62106 567 9.27 6 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 NX_O43193 45344 412 9.97 13 Cell membrane NA 7 PE2 NX_O43194 51329 453 9.43 2 Cell membrane NA 7 PE1 NX_O43196 92875 834 5.95 6 Cytoplasmic vesicle;Endoplasmic reticulum Premature ovarian failure 13 0 PE1 NX_O43236 55098 478 5.77 17 Flagellum;Nucleoplasm;Cytoplasm;Nucleus;Mitochondrion;Cytoskeleton NA 0 PE1 NX_O43237 54099 492 5.97 16 Cytosol;Cytoskeleton;Centrosome NA 0 PE1 NX_O43240 30170 276 8.95 19 Cytosol;Cell membrane;Secreted NA 0 PE1 NX_O43242 60978 534 8.47 17 Cytosol;Nucleoplasm NA 0 PE1 NX_O43246 68268 635 6.59 22 Membrane NA 13 PE1 NX_O43247 30725 280 7.77 22 NA NA 0 PE1 NX_O43248 33748 304 8.81 12 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_O43251 41374 390 6.71 22 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_O43252 70833 624 6.4 4 Nucleolus;Nucleus NA 0 PE1 NX_O43255 34615 324 6.71 3 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_O43257 17536 154 9.55 7 Nucleoplasm;Nucleus NA 0 PE1 NX_O43261 8962 78 5.14 13 Cytosol;Cell membrane NA 0 PE1 NX_O43264 88829 779 5.89 11 Endoplasmic reticulum membrane;Kinetochore;Cytosol;Cytoplasm;Endoplasmic reticulum;Spindle NA 0 PE1 NX_O43272 68002 600 7.96 22 Mitochondrion matrix Hyperprolinemia 1;Schizophrenia 4 0 PE1 NX_O43278 58398 529 5.89 15 Nucleoplasm;Cytosol;Cell membrane;Secreted NA 0 PE1 NX_O43280 66568 583 5.46 11 Cell membrane Trehalase deficiency 0 PE1 NX_O43281 58815 561 4.98 14 Nucleoplasm;Cytosol NA 0 PE1 NX_O43283 108296 966 6.05 3 Nucleoplasm;Cytoplasm;Membrane;Cytosol;Microtubule organizing center NA 0 PE1 NX_O43286 45119 388 8.21 20 Golgi stack membrane NA 1 PE1 NX_O43290 90255 800 5.89 11 Nucleus speckle;Nucleus;Golgi apparatus NA 0 PE1 NX_O43291 28228 252 8.68 19 Cytosol;Cytoskeleton;Cell membrane;Membrane Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies 1 PE1 NX_O43292 67623 621 8.15 8 Endoplasmic reticulum membrane Glycosylphosphatidylinositol biosynthesis defect 15 7 PE1 NX_O43293 52536 454 6.44 19 Cytoplasm;Nucleus NA 0 PE1 NX_O43294 49814 461 6.62 16 Cytosol;Cytoskeleton;Nucleus matrix;Focal adhesion NA 0 PE1 NX_O43295 124504 1099 6.23 3 Nucleoplasm NA 0 PE1 NX_O43296 70587 627 7.36 19 Nucleus NA 0 PE1 NX_O43298 52630 467 5.46 9 Nucleolus;Nucleus NA 0 PE1 NX_O43299 88605 807 6.57 7 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle Spastic paraplegia 48, autosomal recessive 0 PE1 NX_O43300 59076 516 8.27 5 Postsynaptic cell membrane;Cell membrane NA 1 PE1 NX_O43301 74978 675 6.32 10 Cytosol;Golgi apparatus NA 0 PE1 NX_O43303 113424 1012 8.83 16 Centriole;Centrosome;Cilium basal body NA 0 PE1 NX_O43304 78942 696 6.08 16 Cytosol;Golgi apparatus NA 0 PE1 NX_O43306 130615 1168 8.56 12 Cell membrane;Stereocilium;Cilium;Golgi apparatus Lethal congenital contracture syndrome 8 12 PE1 NX_O43307 60982 516 5.47 X Cytosol;Postsynaptic density;Cytoplasm Epileptic encephalopathy, early infantile, 8 0 PE1 NX_O43309 70222 604 6.28 6 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 NX_O43310 67587 598 6.1 18 Cytosol;Perinuclear region NA 0 PE1 NX_O43312 82251 755 6.47 8 Cytoskeleton NA 0 PE1 NX_O43313 88348 823 5.02 16 Nucleus NA 0 PE1 NX_O43314 140407 1243 8.47 5 Cytoplasmic vesicle;Cytosol NA 0 PE1 NX_O43315 31431 295 7.67 15 Membrane NA 6 PE1 NX_O43316 37833 350 9.42 7 Nucleus Maturity-onset diabetes of the young 9;Diabetes mellitus, insulin-dependent;Diabetes mellitus, non-insulin-dependent;Diabetes mellitus, ketosis-prone 0 PE1 NX_O43318 67196 606 6.69 6 Cytosol;Cytoplasm;Cell membrane;Nucleus speckle Cardiospondylocarpofacial syndrome;Frontometaphyseal dysplasia 2 0 PE1 NX_O43320 23759 207 9.22 X Secreted Metacarpal 4-5 fusion 0 PE1 NX_O43323 43577 396 9.4 12 Extracellular space;Cell membrane 46,XY sex reversal 7;Partial gonadal dysgenesis with minifascicular neuropathy 46,XY 0 PE1 NX_O43324 19811 174 8.55 6 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_O43325 14282 122 9.95 16 Nucleoplasm;Nucleus;Midbody NA 0 PE1 NX_O43345 147487 1280 9.2 19 Nucleus NA 0 PE2 NX_O43347 39125 362 7.7 12 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 NX_O43353 61195 540 6.63 8 Cytosol;Cytoplasm NA 0 PE1 NX_O43361 90364 778 9.01 19 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_O43364 41002 376 5.54 7 Cytoplasmic vesicle;Nucleus Microtia, hearing impairment, and cleft palate;Microtia with or without hearing impairment 0 PE1 NX_O43365 46369 443 9.3 7 Nucleoplasm;Nucleus NA 0 PE1 NX_O43374 90458 803 8.01 7 Cytosol;Cell membrane NA 0 PE2 NX_O43379 165954 1518 5.57 19 Cytosol;Spindle pole;Centriole;Nucleus;Microtubule organizing center;Centrosome Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 PE1 NX_O43390 70943 633 8.23 1 Nucleoplasm;Cytoplasm;Nucleus;Microsome NA 0 PE1 NX_O43395 77529 683 9.5 1 Nucleoplasm;Nucleus speckle;Nucleus Retinitis pigmentosa 18 0 PE1 NX_O43396 32251 289 4.84 18 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_O43399 22238 206 5.26 20 Cytosol;Cytoplasmic vesicle NA 0 PE1 NX_O43402 23773 210 5.92 16 Mitochondrion;Cytoplasm;Cytosol NA 0 PE1 NX_O43405 59483 550 8.17 14 Cytoplasmic vesicle;Extracellular matrix Deafness, autosomal dominant, 9 0 PE1 NX_O43414 37238 337 8.33 1 Cytosol;Nucleoplasm NA 0 PE1 NX_O43422 87704 761 5.58 11 Nucleoplasm NA 0 PE1 NX_O43423 26762 234 4.14 4 NA NA 0 PE1 NX_O43424 113356 1007 5.73 4 Postsynaptic cell membrane;Cell membrane Spinocerebellar ataxia, autosomal recessive, 18 3 PE1 NX_O43426 173103 1573 7.13 21 Nucleoplasm;Cytosol;Perinuclear region;Centrosome Epileptic encephalopathy, early infantile, 53;Parkinson disease 20, early-onset 0 PE1 NX_O43427 41878 364 6.02 11 Nucleus speckle;Nucleus;Endomembrane system Thauvin-Robinet-Faivre syndrome 0 PE1 NX_O43432 176652 1585 5.27 1 Cytosol;Cytoplasm NA 0 PE1 NX_O43435 43133 398 8.37 22 Cytosol;Nucleus Velocardiofacial syndrome;DiGeorge syndrome;Conotruncal heart malformations 0 PE1 NX_O43439 67133 604 8.32 20 Nucleus speckle;Nucleus NA 0 PE1 NX_O43447 19208 177 8.28 1 Cytoplasm;Nucleus speckle NA 0 PE1 NX_O43448 43670 404 8.87 17 Mitochondrion;Cytoplasm NA 0 PE2 NX_O43451 209852 1857 5.27 7 Apical cell membrane NA 1 PE1 NX_O43462 57444 519 7.21 X Cytosol;Cytoplasm;Mitochondrion;Nucleoplasm;Membrane Olmsted syndrome, X-linked;Keratosis follicularis spinulosa decalvans X-linked;Osteogenesis imperfecta 19;IFAP syndrome with or without BRESHECK syndrome 10 PE1 NX_O43463 47907 412 8.38 X Nucleoplasm;Centromere;Nucleus;Nucleus lamina NA 0 PE1 NX_O43464 48841 458 10.07 2 Mitochondrion;Mitochondrion membrane;Mitochondrion intermembrane space 3-methylglutaconic aciduria 8;Parkinson disease 13 1 PE1 NX_O43474 54671 513 8.69 9 Nucleoplasm;Nucleus NA 0 PE1 NX_O43482 24691 229 7.02 15 Nucleoplasm;Centromere;Nucleus;Chromosome NA 0 PE1 NX_O43488 39589 359 6.7 1 Cytoplasm;Golgi apparatus NA 0 PE1 NX_O43490 97202 865 6.97 4 Endoplasmic reticulum-Golgi intermediate compartment;Apical cell membrane;Photoreceptor outer segment;Golgi apparatus;Endoplasmic reticulum;Microvillus membrane;Cell membrane Retinitis pigmentosa 41;Retinal macular dystrophy 2;Cone-rod dystrophy 12;Stargardt disease 4 5 PE1 NX_O43491 112588 1005 5.34 6 Nucleus;Cytoskeleton;Cell cortex;Cell junction;Cell membrane NA 0 PE1 NX_O43493 51019 479 5.53 2 Nucleoplasm;trans-Golgi network membrane;Golgi apparatus;Cell membrane NA 1 PE1 NX_O43497 262472 2377 6.14 17 Cytoplasm;Cell membrane Spinocerebellar ataxia 42 24 PE1 NX_O43502 42190 376 6.28 17 Cytosol;Cytoplasm;Cytoplasmic vesicle;Perinuclear region;Nucleus;Mitochondrion;Cell junction Fanconi anemia complementation group O;Breast-ovarian cancer, familial, 3 0 PE1 NX_O43504 9614 91 4.69 1 Cytoplasm;Lysosome NA 0 PE1 NX_O43505 47119 415 6.77 11 Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 1 PE1 NX_O43506 81603 726 6.02 14 Membrane NA 1 PE2 NX_O43508 27216 249 9.5 17 Cell membrane;Secreted NA 1 PE1 NX_O43511 85723 780 6.04 7 Cell membrane;Membrane Pendred syndrome;Deafness, autosomal recessive, 4 12 PE1 NX_O43513 27245 233 5.5 5 Nucleus NA 0 PE1 NX_O43516 51258 503 11.47 2 Cytoplasmic vesicle;Cytosol;Cytoskeleton;Ruffle;Cell membrane Wiskott-Aldrich syndrome 2 0 PE1 NX_O43520 143695 1251 6.77 18 Golgi apparatus;Apical cell membrane;Endoplasmic reticulum;Cell membrane;Stereocilium Cholestasis, benign recurrent intrahepatic, 1;Cholestasis, progressive familial intrahepatic, 1;Cholestasis of pregnancy, intrahepatic 1 10 PE1 NX_O43521 22171 198 8.43 2 Mitochondrion;Endomembrane system NA 0 PE1 NX_O43524 71277 673 4.98 6 Mitochondrion matrix;Cytosol;Nucleus;Mitochondrion outer membrane NA 0 PE1 NX_O43525 96742 872 8.98 8 Cell membrane Seizures, benign familial neonatal 2 6 PE1 NX_O43526 95848 872 9.35 20 Endoplasmic reticulum;Cell membrane Epileptic encephalopathy, early infantile, 7;Seizures, benign familial neonatal 1 6 PE1 NX_O43529 42207 356 8.11 2 Cytosol;Golgi apparatus membrane NA 1 PE1 NX_O43541 53497 496 8.46 15 Nucleus;Golgi apparatus Craniosynostosis 7;Aortic valve disease 2 0 PE1 NX_O43542 37850 346 8.81 14 Mitochondrion;Cytoplasm;Perinuclear region;Nucleus Breast cancer;Melanoma, cutaneous malignant 6 0 PE1 NX_O43543 31956 280 5.67 7 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Centrosome Fanconi anemia, complementation group U 0 PE1 NX_O43548 80778 720 6.01 15 Cytoplasm Peeling skin syndrome 2 0 PE1 NX_O43555 12918 120 11.12 20 Secreted NA 0 PE2 NX_O43556 49851 437 6.12 7 Golgi apparatus;Nucleoplasm;Cell membrane;Cytoplasmic vesicle;Dendrite;Sarcolemma;Cytoskeleton Dystonia 11, myoclonic 1 PE1 NX_O43557 26350 240 9.09 19 Cytoplasm;Cell membrane;Secreted NA 1 PE1 NX_O43559 54462 492 6.81 6 Nucleoplasm;Membrane NA 0 PE1 NX_O43561 27930 262 4.27 16 Cell membrane;Golgi apparatus Immunodeficiency 52 1 PE1 NX_O43566 61447 566 8.46 5 PML body;Nucleoplasm;Cytoplasm;Cell membrane;Centrosome;Cytoplasmic vesicle;Dendrite;Nucleus;Dendritic spine;Membrane;Postsynaptic density;Spindle;Spindle pole NA 0 PE1 NX_O43567 42814 381 4.83 3 Endoplasmic reticulum membrane;Lysosome membrane;Cytosol;Cytoplasmic vesicle;Nucleoplasm;Late endosome membrane;Golgi apparatus membrane;Nucleus inner membrane NA 1 PE1 NX_O43570 39451 354 6.73 15 Cytoplasmic vesicle;Nucleus;Membrane Hyperchlorhidrosis, isolated 1 PE1 NX_O43572 73818 662 5.96 17 Mitochondrion;Cytoplasm;Cytosol;Cell membrane;Membrane Sudden cardiac death 0 PE1 NX_O43581 45501 403 9.29 11 Synaptic vesicle membrane;Lysosome membrane;Cell membrane;Peroxisome membrane;Presynaptic cell membrane;Phagosome membrane;Secretory vesicle membrane NA 1 PE1 NX_O43583 22092 198 5.21 12 Cytosol NA 0 PE1 NX_O43586 47591 416 5.35 15 Uropodium;Cleavage furrow;Cytoplasm;Cell membrane;Perinuclear region;Lamellipodium;Cytoskeleton PAPA syndrome 0 PE1 NX_O43592 109964 962 5.24 12 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_O43593 127495 1189 6.67 8 Nucleoplasm;Nucleus Hypotrichosis 4;Alopecia universalis congenita;Atrichia with papular lesions 0 PE1 NX_O43597 34688 315 8.78 13 Endosome;Cytoskeleton;Ruffle membrane IgA nephropathy 3 0 PE1 NX_O43598 19108 174 4.97 6 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_O43602 40574 365 9.33 X Cytosol;Cytoplasm;Cell projection Lissencephaly, X-linked 1;Subcortical band heterotopia X-linked 0 PE1 NX_O43603 41700 387 9.6 17 Cell membrane NA 7 PE1 NX_O43609 35122 319 8.65 4 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus;Membrane NA 0 PE1 NX_O43610 31222 288 7.4 X Cytosol;Cytoplasm;Nucleolus;Membrane NA 0 PE1 NX_O43612 13363 131 10.8 17 Cytoplasmic vesicle;Synapse;Rough endoplasmic reticulum Narcolepsy 1 0 PE1 NX_O43613 47536 425 9.3 1 Cell membrane NA 7 PE1 NX_O43614 50694 444 8.99 6 Cell membrane NA 7 PE1 NX_O43615 51356 452 8.51 19 Mitochondrion;Mitochondrion matrix;Mitochondrion inner membrane NA 0 PE1 NX_O43617 20274 180 4.88 1 Cytosol;Endoplasmic reticulum;Golgi apparatus;cis-Golgi network NA 0 PE1 NX_O43623 29986 268 9.01 8 Cytoplasm;Nucleus Piebald trait;Waardenburg syndrome 2D 0 PE1 NX_O43633 25104 222 5.87 19 Cytosol;Late endosome membrane;Nucleus;Cell membrane NA 0 PE1 NX_O43638 35434 330 9.28 20 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_O43639 42915 380 6.49 2 Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_O43653 11959 114 4.75 8 Cell membrane NA 0 PE1 NX_O43657 27563 245 8.44 X Cytosol;Membrane NA 4 PE1 NX_O43660 57194 514 9.24 4 Nucleus speckle;Nucleus;Nucleus membrane NA 0 PE1 NX_O43663 71607 620 6.29 15 Cytoplasm;Nucleus;Midbody;Spindle pole NA 0 PE1 NX_O43665 20236 173 5.35 10 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_O43670 50751 478 9.19 17 Kinetochore;Spindle;Nucleus NA 0 PE1 NX_O43674 21750 189 9.62 3 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane NA 1 PE1 NX_O43676 11402 98 9.19 2 Mitochondrion inner membrane Mitochondrial complex I deficiency 1 PE1 NX_O43677 8734 76 10.2 4 Mitochondrion;Mitochondrion inner membrane;Cell membrane NA 1 PE1 NX_O43678 10922 99 9.62 5 Mitochondrion inner membrane NA 0 PE1 NX_O43679 42793 373 6.47 4 Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_O43680 19715 179 9.15 6 Nucleus NA 0 PE2 NX_O43681 38793 348 4.81 19 Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_O43683 122375 1085 6.03 2 Cytosol;Kinetochore;Nucleus;Nucleoplasm NA 0 PE1 NX_O43684 37155 328 6.36 10 Nucleoplasm;Kinetochore;Nucleus NA 0 PE1 NX_O43687 11465 104 4.89 6 Apical cell membrane;Lateral cell membrane NA 0 PE1 NX_O43688 32574 288 8.65 19 Mitochondrion;Membrane NA 6 PE1 NX_O43692 29065 258 8.37 8 Cytosol;Cytoplasmic vesicle;Secreted NA 0 PE1 NX_O43699 49913 453 6.7 19 Cell membrane;Secreted NA 1 PE1 NX_O43704 34899 296 6.57 4 Nucleoplasm;Cytoplasm;Golgi apparatus NA 0 PE1 NX_O43707 104854 911 5.27 19 Cytosol;Cytoplasm;Nucleus;Cell junction;Stress fiber Focal segmental glomerulosclerosis 1 0 PE1 NX_O43708 24212 216 8.8 14 Cytosol;Cytoplasm;Nucleus Maleylacetoacetate isomerase deficiency 0 PE1 NX_O43709 31880 281 8.95 7 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleolus;Nucleus NA 0 PE1 NX_O43711 31867 291 9.95 5 Nucleoplasm;Nucleus NA 0 PE1 NX_O43715 8786 76 5.37 12 Mitochondrion;Nucleoplasm;Perinuclear region;Mitochondrion intermembrane space NA 0 PE1 NX_O43716 15086 136 4.94 12 Mitochondrion NA 0 PE1 NX_O43719 85853 755 4.29 X Nucleoplasm;Nucleus NA 0 PE1 NX_O43731 25027 214 9.07 22 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 7 PE1 NX_O43734 64666 574 6.27 6 Cytoplasmic vesicle;Golgi apparatus Candidiasis, familial, 8;Psoriasis 13 0 PE1 NX_O43736 29741 263 5.65 X Nucleoplasm;Membrane NA 1 PE1 NX_O43739 46349 400 5.35 7 Cytosol;Nucleoplasm;Tight junction;Cell membrane;Adherens junction NA 0 PE1 NX_O43741 30302 272 5.99 1 Nucleoplasm NA 0 PE1 NX_O43745 22452 196 5.89 16 Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_O43747 91351 822 6.36 16 Cytosol;Cytoplasmic vesicle;Golgi apparatus;Clathrin-coated vesicle membrane NA 0 PE1 NX_O43749 34866 312 7.59 16 Cell membrane NA 7 PE2 NX_O43752 29176 255 4.84 1 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_O43759 25456 233 4.5 22 Cytosol;Synaptic vesicle membrane;Melanosome NA 4 PE1 NX_O43760 24810 224 4.75 17 Cytoplasmic vesicle membrane;Lipid droplet;Synaptic vesicle membrane NA 4 PE1 NX_O43761 24555 229 8.42 16 Synaptic vesicle membrane;Synapse;Cell membrane NA 4 PE1 NX_O43763 30251 284 11.09 2 Nucleoplasm;Nucleus NA 0 PE1 NX_O43765 34063 313 4.81 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_O43766 41911 372 8.84 4 Mitochondrion;Nucleoplasm Hyperglycinemia, lactic acidosis, and seizures 0 PE1 NX_O43768 13389 121 6.62 1 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_O43772 32944 301 9.48 3 Cytosol;Mitochondrion;Mitochondrion inner membrane Carnitine-acylcarnitine translocase deficiency 6 PE1 NX_O43776 62943 548 5.9 18 Cytosol;Cytoplasm NA 0 PE1 NX_O43781 65714 588 9.41 1 Nucleus speckle;Cytoplasmic granule;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Centrosome NA 0 PE1 NX_O43790 53501 486 5.56 12 Cytosol Monilethrix 0 PE1 NX_O43791 42132 374 5.58 17 Nucleus speckle;Nucleus NA 0 PE1 NX_O43795 131985 1136 9.43 2 Cell membrane NA 0 PE1 NX_O43805 13596 119 5.37 9 Nucleus;Centrosome NA 0 PE1 NX_O43808 34567 307 10.09 22 Cytoplasm;Peroxisome membrane;Peroxisome NA 6 PE1 NX_O43809 26227 227 8.85 16 Cytoplasm;Nucleus;Centrosome;Microtubule organizing center NA 0 PE1 NX_O43812 19347 170 11.17 10 Nucleus NA 0 PE1 NX_O43813 45283 399 7.86 2 Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 NX_O43815 86132 780 5.12 2 Nucleoplasm;Cytoplasm;Cytosol;Dendritic spine;Membrane NA 0 PE1 NX_O43818 51841 475 7.97 3 Nucleolus;Nucleus NA 0 PE1 NX_O43819 29810 266 9.01 22 Mitochondrion;Mitochondrion inner membrane Myopia 6;Leigh syndrome;Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 1 PE1 NX_O43820 46501 417 8.55 3 Cell membrane;Secreted;Acrosome;Endoplasmic reticulum;Early endosome NA 0 PE1 NX_O43822 28340 256 6.97 21 Mitochondrion;Cytoplasm;Nucleoplasm;Photoreceptor outer segment;Cilium basal body Retinal dystrophy with or without macular staphyloma;Spondylometaphyseal dysplasia, axial 0 PE1 NX_O43823 76108 692 5.03 19 Nucleoplasm;Nucleus matrix;Nucleolus;Nucleus;Cytoplasm NA 0 PE1 NX_O43824 56897 516 9.49 X Mitochondrion NA 0 PE1 NX_O43825 49213 422 9.5 1 Golgi apparatus membrane NA 1 PE1 NX_O43826 46360 429 8.85 11 Endoplasmic reticulum membrane;Mitochondrion Glycogen storage disease 1D;Glycogen storage disease 1C;Glycogen storage disease 1B 10 PE1 NX_O43827 40018 346 7.98 1 Secreted NA 0 PE1 NX_O43829 50956 449 5.69 18 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_O43830 38241 326 9.35 22 Nucleus NA 0 PE3 NX_O43837 42184 385 8.64 20 Mitochondrion Retinitis pigmentosa 46 0 PE1 NX_O43847 131701 1151 4.88 1 Nucleoplasm NA 0 PE1 NX_O43852 37107 315 4.47 7 Endoplasmic reticulum membrane;Melanosome;Golgi apparatus;Secreted;Sarcoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 NX_O43854 53765 480 7.08 5 Secreted NA 0 PE1 NX_O43861 129304 1147 7.67 18 trans-Golgi network membrane NA 10 PE1 NX_O43865 58951 530 6.49 1 Cytosol;Apical cell membrane;Microsome;Endoplasmic reticulum NA 0 PE1 NX_O43866 38088 347 5.28 1 Cytoplasm;Secreted NA 0 PE1 NX_O43868 71926 658 8.29 15 Membrane NA 14 PE2 NX_O43869 41996 369 8.71 1 Cell membrane NA 7 PE3 NX_O43889 41379 371 4.82 9 Endoplasmic reticulum membrane;Cytosol;Nucleus;Golgi apparatus;Cytoplasm NA 1 PE1 NX_O43895 75625 674 5.69 X Cell membrane Angioedema induced by ACE inhibitors 0 PE1 NX_O43896 122947 1103 6.47 17 Cytoskeleton Spastic ataxia 2, autosomal recessive 0 PE1 NX_O43897 114709 1013 5.69 4 Cytoplasmic vesicle;Secreted Atrial septal defect 6 0 PE1 NX_O43900 68609 615 8.24 X Cytoplasm;Nucleus;Centrosome;Cell membrane NA 0 PE1 NX_O43903 34945 313 8.76 11 Nucleolus;Stress fiber;Cytosol;Cell membrane;Nucleus;Membrane NA 0 PE1 NX_O43908 18234 158 9.28 12 Membrane NA 1 PE2 NX_O43909 104749 919 6.08 8 Endoplasmic reticulum membrane;Golgi apparatus Immunoskeletal dysplasia with neurodevelopmental abnormalities 1 PE1 NX_O43913 50283 435 7.63 7 Cytosol;Nucleus NA 0 PE1 NX_O43914 12179 113 8.55 19 Membrane Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 PE1 NX_O43915 40444 354 8.16 X Secreted NA 0 PE1 NX_O43916 46715 411 9.17 11 Golgi apparatus membrane NA 1 PE1 NX_O43918 57727 545 7.53 21 Cytoplasm;Nucleus Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia 0 PE1 NX_O43920 12518 106 9.27 1 Mitochondrion inner membrane;Mitochondrion intermembrane space NA 0 PE1 NX_O43921 23878 213 6.99 19 Cytosol;Mitochondrion;Cell membrane NA 0 PE1 NX_O43924 17420 150 5.57 2 Cytosol;Cytoplasmic vesicle membrane;Cilium basal body Joubert syndrome 22 0 PE1 NX_O43927 12664 109 10.35 4 Secreted NA 0 PE1 NX_O43929 50377 436 8.08 2 Nucleolus;Nucleus Meier-Gorlin syndrome 2 0 PE1 NX_O43930 31708 277 6.46 Y NA NA 0 PE5 NX_O43933 142867 1283 5.91 7 Cytoplasm;Peroxisome membrane;Peroxisome Peroxisome biogenesis disorder 1A;Peroxisome biogenesis disorder 1B;Peroxisome biogenesis disorder complementation group 1;Heimler syndrome 1 0 PE1 NX_O43934 49202 449 5.48 17 Nucleus speckle;Membrane NA 12 PE1 NX_O60216 71690 631 4.54 8 Nucleoplasm;Nucleus;Centromere;Chromosome Cornelia de Lange syndrome 4 0 PE1 NX_O60218 36020 316 7.66 7 Secreted;Lysosome NA 0 PE1 NX_O60220 10998 97 5.08 X Mitochondrion;Mitochondrion inner membrane Mohr-Tranebjaerg syndrome 0 PE1 NX_O60224 21858 188 9.16 X NA NA 0 PE1 NX_O60225 21660 188 9.35 X NA NA 0 PE1 NX_O60229 340174 2985 5.72 3 Cytosol;Cytoplasm;Cytoskeleton;Nucleoplasm Coronary heart disease 5 0 PE1 NX_O60231 119264 1041 6.39 6 Nucleoplasm;Nucleus NA 0 PE1 NX_O60232 21474 199 5.12 11 Cytosol NA 0 PE1 NX_O60234 16801 142 5.18 19 NA NA 0 PE1 NX_O60235 46263 418 8.69 4 Cell membrane;Secreted NA 1 PE1 NX_O60237 110404 982 5.53 1 Cytoskeleton;Cell membrane;Stress fiber NA 0 PE1 NX_O60238 23930 219 5.52 8 Nucleus speckle;Cytoplasm;Nucleus envelope;Endoplasmic reticulum;Mitochondrion outer membrane;Nucleus;Membrane;Mitochondrion NA 1 PE1 NX_O60239 50425 455 4.92 3 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_O60240 55990 522 6.03 15 Lipid droplet;Endoplasmic reticulum;Peroxisome Lipodystrophy, familial partial, 4 0 PE1 NX_O60241 172656 1585 7.5 1 Centrosome;Cell membrane NA 7 PE1 NX_O60242 171518 1522 6.69 6 Cell membrane NA 7 PE1 NX_O60243 48226 411 9.04 2 Nucleoplasm;Membrane Hypogonadotropic hypogonadism 15 with or without anosmia 1 PE1 NX_O60244 160607 1454 8.97 X Nucleoplasm;Nucleus NA 0 PE1 NX_O60245 116071 1069 5.02 4 Cell junction;Cell membrane NA 1 PE1 NX_O60248 25251 233 9.78 17 Cytoplasmic vesicle;Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 NX_O60256 40926 369 7.08 17 Nucleoplasm;Cytosol NA 0 PE1 NX_O60258 24891 216 10.43 8 Secreted Hypogonadotropic hypogonadism 20 with or without anosmia 0 PE1 NX_O60259 28048 260 7.52 19 Cytoplasmic vesicle;Cytoplasm;Secreted NA 0 PE1 NX_O60260 51641 465 6.71 6 Cytosol;Mitochondrion;Nucleus;Endoplasmic reticulum;Nucleus speckle Parkinson disease;Parkinson disease 2 0 PE1 NX_O60262 7522 68 8.71 19 Cell membrane NA 0 PE1 NX_O60264 121905 1052 8.27 4 Nucleolus;Nucleus NA 0 PE1 NX_O60266 128960 1144 6.15 2 Cytoplasm;Golgi apparatus;Cilium;Cell membrane Obesity 12 PE1 NX_O60268 46639 411 4.98 16 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_O60269 47450 458 6.28 10 NA NA 0 PE1 NX_O60271 146205 1321 5.05 17 Cytosol;Cytoplasm;Perinuclear region;Acrosome;Microtubule organizing center NA 0 PE1 NX_O60279 68021 629 4.79 3 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 1 PE1 NX_O60281 304816 2723 7.27 6 Nucleus;Nucleus membrane NA 0 PE1 NX_O60282 109495 957 5.86 2 Cytoplasmic vesicle;Dendrite;Cytoskeleton Cortical dysplasia, complex, with other brain malformations 2 0 PE1 NX_O60284 115155 1047 5.72 8 Nucleus NA 0 PE1 NX_O60285 74305 661 8.97 12 Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_O60287 254389 2271 6.03 21 Nucleolus NA 0 PE1 NX_O60290 131654 1169 6.87 7 Mitochondrion;Nucleus NA 0 PE2 NX_O60291 60753 552 5.01 16 Cytosol;Nucleus;Cell membrane;Early endosome NA 0 PE1 NX_O60292 194610 1781 8.57 19 Nucleus speckle;Apical cell membrane;Nucleus membrane Cataract 45 0 PE1 NX_O60293 226356 1989 8.39 12 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_O60294 75602 686 6.25 15 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 NX_O60296 101419 914 5.15 2 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;Early endosome;Mitochondrion NA 0 PE1 NX_O60299 71791 673 7.56 20 Cytoplasmic vesicle;Postsynaptic density;Cytoskeleton;Synapse NA 0 PE1 NX_O60303 180918 1618 5.57 16 Nucleus speckle;Cytoskeleton;Cilium axoneme;Cell membrane;Cilium basal body Joubert syndrome 26 0 PE1 NX_O60304 53674 480 6.84 16 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_O60306 171295 1485 5.96 15 Nucleoplasm;Nucleus NA 0 PE1 NX_O60307 143137 1309 8.24 19 Nucleus speckle NA 0 PE1 NX_O60308 104448 925 7.54 1 Centriole;Centrosome;Spindle pole;Cilium Joubert syndrome 25 0 PE1 NX_O60309 180621 1634 5.2 17 Membrane NA 1 PE1 NX_O60312 167688 1499 8.7 15 Endoplasmic reticulum membrane;Cell membrane Angelman syndrome 10 PE1 NX_O60313 111631 960 7.87 3 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane;Mitochondrion membrane;Mitochondrion intermembrane space Behr syndrome;Dominant optic atrophy plus syndrome;Optic atrophy 1;Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type 1 PE1 NX_O60315 136447 1214 5.9 2 Cytosol;Nucleolus;Nucleus Mowat-Wilson syndrome 0 PE1 NX_O60318 218405 1980 5.99 21 Nucleus membrane;Cytosol;Cytoplasm;Nuclear pore complex;Nucleus envelope;Nucleoplasm;Nucleus NA 0 PE1 NX_O60320 56544 539 5.18 15 Nucleus;Membrane NA 4 PE2 NX_O60330 100955 932 4.9 5 Cell membrane NA 1 PE1 NX_O60331 73260 668 5.17 19 Phagocytic cup;Uropodium;Nucleoplasm;Cytoplasm;Cell membrane;Endomembrane system;Cytosol;Focal adhesion;Nucleus;Ruffle membrane;Adherens junction Lethal congenital contracture syndrome 3 0 PE1 NX_O60333 204476 1816 5.42 1 Cytoplasmic vesicle;Mitochondrion;Cytoskeleton;Nucleolus;Cytosol Pheochromocytoma;Neuroblastoma 1;Charcot-Marie-Tooth disease 2A1 0 PE1 NX_O60336 163818 1514 6.31 15 Cytoplasm;Nucleolus;Nucleus;Spindle pole Nephronophthisis 20 0 PE1 NX_O60337 102545 910 5.85 5 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 14 PE1 NX_O60341 92903 852 6.11 1 Nucleoplasm;Cytosol;Nucleus Cleft palate, psychomotor retardation, and distinctive facial features 0 PE1 NX_O60343 146563 1298 6.57 13 Cytosol;Cytoplasm Diabetes mellitus, non-insulin-dependent, 5 0 PE1 NX_O60346 184672 1717 5.88 18 Cytoplasm;Nucleus;Cell membrane;Membrane NA 0 PE1 NX_O60347 85626 775 5.56 10 Nucleoplasm;Nucleus speckle NA 0 PE1 NX_O60353 79292 706 8.29 8 Cell surface;Cytoplasmic vesicle membrane;Apical cell membrane;Cell membrane;Membrane Nail disorder, non-syndromic congenital, 10 7 PE1 NX_O60356 8873 82 9.98 16 Cytosol;Nucleus NA 0 PE1 NX_O60359 35549 315 9.53 16 Membrane NA 4 PE1 NX_O60361 15529 137 8.76 12 NA NA 0 PE5 NX_O60381 57645 514 5.79 7 Nucleus speckle;Nucleus NA 0 PE1 NX_O60383 51444 454 9.19 5 Secreted Premature ovarian failure 14 0 PE1 NX_O60384 11997 105 8.91 19 NA NA 0 PE5 NX_O60391 112992 1043 9.37 19 Postsynaptic cell membrane;Cell membrane NA 3 PE2 NX_O60393 73906 691 5.79 7 Nucleus Premature ovarian failure 5 0 PE1 NX_O60397 11841 106 9.57 4 Mitochondrion inner membrane NA 0 PE5 NX_O60403 34663 315 8.71 19 Cell membrane NA 7 PE2 NX_O60404 35721 316 9.22 19 Cell membrane NA 7 PE2 NX_O60412 35323 319 7.99 19 Cell membrane NA 7 PE3 NX_O60422 50037 494 9.9 19 Nucleoplasm;Nucleus NA 0 PE3 NX_O60423 146752 1300 8.18 19 Endoplasmic reticulum membrane;Acrosome membrane NA 10 PE1 NX_O60427 51964 444 8.98 11 Endoplasmic reticulum membrane;Mitochondrion NA 4 PE1 NX_O60431 39297 355 7.14 19 Cell membrane NA 7 PE2 NX_O60437 204747 1756 5.47 16 Cytosol;Nucleoplasm;Cell membrane;Desmosome;Nucleus;Mitochondrion;Cytoskeleton NA 0 PE1 NX_O60443 54555 496 5.03 7 Cytosol;Cell membrane Deafness, autosomal dominant, 5 0 PE1 NX_O60447 92949 810 5.78 1 Cytoplasmic vesicle;Spindle;Nucleus;Centrosome;Golgi apparatus NA 0 PE1 NX_O60449 198311 1722 6.22 2 Golgi apparatus;Membrane NA 1 PE1 NX_O60462 104831 931 5.04 2 Cytoplasmic vesicle;Membrane;Cell membrane;Secreted NA 1 PE1 NX_O60469 222260 2012 7.78 21 Synapse;Secreted;Cytosol;Cell membrane;Axon;Nucleoplasm NA 1 PE1 NX_O60476 73004 641 7.17 1 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_O60477 88760 761 9.15 9 Cytoplasm;Cytoskeleton NA 0 PE1 NX_O60478 45599 399 8.95 1 Lysosome membrane NA 7 PE1 NX_O60479 31738 287 8.98 17 Nucleus Trichodentoosseous syndrome;Amelogenesis imperfecta 4 0 PE1 NX_O60481 50569 467 8.89 X Nucleoplasm;Cytoplasm;Nucleus VACTERL association X-linked with or without hydrocephalus;Congenital heart defects, multiple types, 1, X-linked;Heterotaxy, visceral, 1, X-linked 0 PE1 NX_O60486 175742 1568 7.78 12 Mitochondrion;Membrane NA 1 PE1 NX_O60487 24484 215 6.53 11 Cell junction;Membrane NA 1 PE1 NX_O60488 79188 711 8.66 X Endoplasmic reticulum membrane;Microsome membrane;Peroxisome membrane;Golgi apparatus;Mitochondrion outer membrane;Mitochondrion Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis;Mental retardation, X-linked 63 1 PE1 NX_O60493 18762 162 8.71 6 Cytoplasm;Phagosome;Early endosome NA 0 PE1 NX_O60494 398736 3623 5.14 10 Endosome;Lysosome membrane;Coated pit;Apical cell membrane;Cell membrane Recessive hereditary megaloblastic anemia 1 0 PE1 NX_O60496 45379 412 5.78 8 NA NA 0 PE1 NX_O60499 28114 249 4.81 19 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_O60500 134742 1241 5.42 19 Cell membrane Nephrotic syndrome 1 1 PE1 NX_O60502 102915 916 4.82 10 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_O60503 150701 1353 7.07 16 Cytosol;Cell membrane NA 12 PE1 NX_O60504 75341 671 9.48 8 Nucleoplasm;Cytoskeleton;Focal adhesion;Nucleus;Cell junction NA 0 PE1 NX_O60506 69603 623 8.68 6 Cytosol;Cytoplasm;Microsome;Endoplasmic reticulum;Nucleoplasm;Nucleus NA 0 PE1 NX_O60507 42188 370 9.21 7 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_O60508 65521 579 6.62 6 Nucleus NA 0 PE1 NX_O60512 43928 393 9.34 1 Golgi stack membrane;Golgi apparatus NA 1 PE1 NX_O60513 40041 344 9.18 3 Golgi stack membrane;Golgi apparatus NA 1 PE1 NX_O60516 10873 100 4.37 5 NA NA 0 PE1 NX_O60518 124714 1105 4.88 9 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_O60519 13784 120 9.93 12 Cytosol;Mitochondrion;Nucleus;Nucleoplasm NA 0 PE1 NX_O60522 236517 2096 5.14 6 Cytoplasm NA 0 PE1 NX_O60524 122954 1076 5.97 14 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_O60542 16600 156 9.54 19 Secreted NA 0 PE2 NX_O60543 24687 219 9.34 18 Lipid droplet;Nucleus NA 0 PE1 NX_O60547 41950 372 6.87 6 NA NA 0 PE1 NX_O60548 48748 495 6.76 1 Nucleus NA 0 PE1 NX_O60551 56980 498 7.23 10 Cytosol;Cytoplasm;Golgi apparatus;Cell membrane;Membrane NA 0 PE1 NX_O60563 80685 726 8.9 12 Nucleoplasm;Nucleus NA 0 PE1 NX_O60565 20697 184 9.53 15 Secreted Polyposis syndrome, mixed hereditary 1 0 PE1 NX_O60566 119545 1050 5.2 15 Cytosol;Cytoplasm;Kinetochore;Nucleus;Centrosome Mosaic variegated aneuploidy syndrome 1;Premature chromatid separation trait 0 PE1 NX_O60568 84785 738 5.69 7 Endoplasmic reticulum lumen;Endoplasmic reticulum membrane;Extracellular space;Rough endoplasmic reticulum;Secreted Lysyl hydroxylase 3 deficiency 0 PE1 NX_O60573 28362 245 8.97 2 Cytosol;Mitochondrion NA 0 PE1 NX_O60575 9454 86 7.57 9 Cytoplasmic vesicle;Nucleus;Golgi apparatus;Secreted NA 0 PE2 NX_O60583 81029 730 9.04 2 Cytosol;Nucleoplasm;Perinuclear region;Nucleus;Cell membrane NA 0 PE1 NX_O60602 97834 858 6.21 1 Cytosol;Nucleus;Golgi apparatus;Membrane Systemic lupus erythematosus 1 1 PE1 NX_O60603 89838 784 6.17 4 Mitochondrion;Phagosome membrane;Nucleus;Membrane raft;Membrane NA 1 PE1 NX_O60609 44511 400 8.06 5 Cytosol;Cell membrane NA 0 PE1 NX_O60610 141347 1272 5.31 5 Cytoplasm;Cell membrane;Centrosome;Nucleus;Ruffle membrane;Cytoskeleton;Spindle Deafness, autosomal dominant, 1;Seizures, cortical blindness, and microcephaly syndrome 0 PE1 NX_O60613 18092 165 4.96 1 Endoplasmic reticulum lumen;Cytosol;Nucleolus;Endoplasmic reticulum NA 0 PE1 NX_O60635 26301 241 5.12 1 Cytoplasmic vesicle;Nucleoplasm;Lysosome membrane NA 4 PE1 NX_O60636 24148 221 7.98 1 Nucleoplasm;Membrane NA 4 PE1 NX_O60637 28018 253 5.52 15 Nucleoplasm;Golgi apparatus;Membrane NA 4 PE1 NX_O60641 92502 907 4.69 6 Cytosol;Coated pit;Centrosome;Cell membrane NA 0 PE1 NX_O60645 86845 756 5.8 5 Golgi apparatus;Nucleoplasm;Cytoplasm;Midbody;Perinuclear region;Mitochondrion;Growth cone NA 0 PE1 NX_O60656 59941 530 8.08 2 Endoplasmic reticulum membrane;Microsome NA 1 PE1 NX_O60658 93304 829 5.75 15 Golgi apparatus NA 0 PE1 NX_O60662 68037 606 5.14 2 Endoplasmic reticulum membrane;Ruffle;Pseudopodium;Sarcoplasmic reticulum membrane;Cytosol;Cytoplasm;Cell membrane;Nucleus;Cytoskeleton;M line Nemaline myopathy 9 0 PE1 NX_O60663 44917 402 6.22 9 Nucleus Nail-patella syndrome 0 PE1 NX_O60664 47075 434 5.3 19 Cytosol;Endosome membrane;Lipid droplet;Cytoplasm NA 0 PE1 NX_O60667 43146 390 9.78 1 Cytosol;Focal adhesion;Secreted;Nucleus;Membrane NA 1 PE1 NX_O60669 52200 478 9.37 12 Nucleoplasm;Cell membrane NA 12 PE1 NX_O60671 31827 282 4.73 5 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_O60673 352776 3130 8.72 6 Nucleoplasm;Nucleus NA 0 PE1 NX_O60674 130674 1132 6.82 9 Nucleoplasm;Cytoplasm;Cell membrane;Endomembrane system;Focal adhesion;Nucleus Leukemia, acute myelogenous;Budd-Chiari syndrome;Myelofibrosis;Thrombocythemia 3;Polycythemia vera 0 PE1 NX_O60675 17523 156 10.1 7 Nucleoplasm;Nucleus NA 0 PE1 NX_O60676 16275 142 9.05 20 Secreted NA 0 PE1 NX_O60678 59903 531 5.18 11 Cytoplasm NA 0 PE1 NX_O60682 22068 206 9.23 8 Nucleoplasm;Nucleus NA 0 PE1 NX_O60683 37069 326 10.03 1 Nucleoplasm;Peroxisome membrane Peroxisome biogenesis disorder complementation group 7;Peroxisome biogenesis disorder 6A;Peroxisome biogenesis disorder 6B 0 PE1 NX_O60684 60030 536 4.89 1 Nucleoplasm;Cytosol NA 0 PE1 NX_O60687 52972 465 7.05 X Cytoplasm;Cytoskeleton;Cell surface;Synapse;Secreted Rolandic epilepsy with speech dyspraxia and mental retardation X-linked 0 PE1 NX_O60688 13575 119 8.21 22 Nucleus NA 0 PE2 NX_O60701 55024 494 6.73 4 Nucleoplasm NA 0 PE1 NX_O60704 41912 377 9.22 22 Golgi apparatus membrane;Endoplasmic reticulum NA 1 PE1 NX_O60706 174223 1549 7.05 12 Cytosol;Nucleoplasm;Membrane Hypertrichotic osteochondrodysplasia;Atrial fibrillation, familial, 12;Cardiomyopathy, dilated 1O 15 PE1 NX_O60711 43332 386 5.62 11 Nucleus speckle;Cytosol;Cytoplasm;Focal adhesion;Cell membrane;Perinuclear region;Nucleus;Podosome NA 0 PE1 NX_O60716 108170 968 5.86 11 Cytoplasm;Nucleus;Cell membrane Blepharocheilodontic syndrome 2 0 PE1 NX_O60721 121374 1099 4.9 15 Cytoskeleton;Membrane Night blindness, congenital stationary, 1D 11 PE1 NX_O60725 31938 284 8.13 1 Endoplasmic reticulum membrane NA 8 PE1 NX_O60729 56802 498 9.19 9 Nucleoplasm;Nucleolus NA 0 PE1 NX_O60732 123643 1142 4.23 X Cytosol;Nucleoplasm NA 0 PE1 NX_O60733 89903 806 6.86 22 Cytosol;Cytoplasm;Microtubule organizing center;Membrane Parkinson disease 14;Neurodegeneration with brain iron accumulation 2A;Neurodegeneration with brain iron accumulation 2B 0 PE1 NX_O60739 12824 113 6.82 3 NA NA 0 PE1 NX_O60741 98796 890 8.63 5 Cell membrane Epileptic encephalopathy, early infantile, 24 6 PE1 NX_O60749 58471 519 5.04 5 Lamellipodium;Endosome;Early endosome membrane;Lysosome NA 0 PE1 NX_O60755 39573 368 10.23 22 Cell membrane NA 7 PE1 NX_O60756 9784 84 10.67 9 NA NA 0 PE5 NX_O60759 40010 359 6.55 2 Cytosol;Nucleoplasm;Early endosome;Cytoplasm NA 0 PE1 NX_O60760 23344 199 5.54 4 Cytoplasm NA 0 PE1 NX_O60762 29634 260 9.57 20 Endoplasmic reticulum Congenital disorder of glycosylation 1E 0 PE1 NX_O60763 107895 962 4.85 4 Cytosol;Nucleolus;Golgi apparatus membrane;Golgi apparatus NA 0 PE1 NX_O60765 69237 605 9.65 5 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_O60774 61291 539 5.99 1 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE5 NX_O60779 55400 497 6.35 1 Cytosol;Cell membrane Thiamine-responsive megaloblastic anemia syndrome 12 PE1 NX_O60783 15139 128 11.42 1 Mitochondrion;Nucleus membrane NA 0 PE1 NX_O60784 53818 492 4.59 22 Cytosol;Cytoplasm;Membrane;Cell membrane;Microtubule organizing center NA 0 PE1 NX_O60806 48238 448 6.66 1 Nucleus speckle;Nucleus ACTH deficiency, isolated 0 PE1 NX_O60809 55211 474 8.71 1 NA NA 0 PE2 NX_O60810 55439 478 8.69 1 NA NA 0 PE2 NX_O60811 54872 474 8.12 1 NA NA 0 PE2 NX_O60812 32142 293 4.93 1 Nucleus NA 0 PE1 NX_O60813 55344 478 8.83 1 NA NA 0 PE2 NX_O60814 13890 126 10.31 6 Nucleus;Chromosome NA 0 PE1 NX_O60825 58477 505 8.61 1 Nucleus NA 0 PE1 NX_O60826 70756 627 6.3 X Cytosol;Nucleoplasm;Endosome Ritscher-Schinzel syndrome 2 0 PE1 NX_O60828 30472 265 5.92 X Nucleus speckle;Nucleus;Cytoplasmic granule Renpenning syndrome 1 0 PE1 NX_O60829 11153 102 4.71 X Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_O60830 18273 172 9.21 X Mitochondrion;Cytoskeleton;Mitochondrion inner membrane NA 3 PE1 NX_O60831 19258 178 9.41 X Endosome membrane;Cytoplasmic vesicle;Endoplasmic reticulum NA 4 PE1 NX_O60832 57674 514 9.46 X Cytoplasm;Nucleolus;Nucleus;Cajal body Dyskeratosis congenita, X-linked;Hoyeraal-Hreidarsson syndrome 0 PE1 NX_O60840 220678 1977 5.76 X Membrane Aaland island eye disease;Cone-rod dystrophy, X-linked 3;Night blindness, congenital stationary, 2A 24 PE1 NX_O60841 138827 1220 5.39 2 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_O60844 18147 167 9.43 16 Cytoplasmic vesicle lumen;Extracellular matrix;Golgi apparatus lumen NA 0 PE1 NX_O60858 46988 407 5.75 13 Endoplasmic reticulum membrane NA 1 PE1 NX_O60861 54371 476 6.91 17 Cytoplasm;Focal adhesion;Cytoskeleton;Cell membrane NA 0 PE1 NX_O60869 16369 148 9.95 9 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_O60870 45374 393 9.07 10 Cytoplasm;Nucleus NA 0 PE1 NX_O60879 125569 1101 6.2 X Cytoplasmic vesicle;Cytosol;Nucleolus;Endoplasmic reticulum;Early endosome Premature ovarian failure 2A 0 PE1 NX_O60880 14187 128 8.74 X Cytoplasm Lymphoproliferative syndrome, X-linked, 1 0 PE1 NX_O60882 54387 483 8.92 11 Extracellular matrix Amelogenesis imperfecta, hypomaturation type, 2A2 0 PE1 NX_O60883 52771 481 7.37 1 Cilium membrane;Cell membrane NA 7 PE1 NX_O60884 45746 412 6.06 16 Cytosol;Cytoskeleton;Nucleolus;Membrane NA 0 PE1 NX_O60885 152219 1362 9.23 19 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_O60888 19116 179 5.42 6 Focal adhesion;Cell membrane NA 0 PE1 NX_O60890 91641 802 8.08 X Synapse;Cytoplasm;Cell membrane;Axon;Dendrite;Nucleus;Dendritic spine Mental retardation, X-linked, syndromic, OPHN1-related 0 PE1 NX_O60894 16988 148 8.55 2 Nucleoplasm;Nucleus membrane;Membrane NA 1 PE1 NX_O60895 19608 175 5.49 17 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_O60896 16518 148 5.32 7 Cell membrane;Membrane NA 1 PE1 NX_O60902 34953 331 8.99 3 Nucleus NA 0 PE1 NX_O60906 47646 423 6.49 6 Cytoplasmic vesicle;Cell junction;Cell membrane;Membrane NA 2 PE1 NX_O60907 62496 577 6.08 X Nucleolus;Nucleus NA 0 PE1 NX_O60909 41972 372 9.47 1 Cytoplasmic vesicle;Golgi stack membrane;Golgi apparatus NA 1 PE1 NX_O60911 37329 334 8.98 9 Cytosol;Nucleolus;Nucleus;Cell membrane;Lysosome NA 0 PE1 NX_O60921 31691 280 6.37 7 Cytosol;Nucleus NA 0 PE1 NX_O60925 14210 122 6.32 5 Cytosol;Cytoplasm;Nucleolus;Cell membrane NA 0 PE1 NX_O60927 13952 126 6.52 6 Cytoplasmic vesicle NA 0 PE1 NX_O60928 40530 360 5.84 2 Membrane Snowflake vitreoretinal degeneration;Leber congenital amaurosis 16 2 PE1 NX_O60930 32064 286 9.28 2 Cytoplasm Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 0 PE1 NX_O60931 41738 367 9.12 17 Cytoplasmic vesicle;Cytoskeleton;Lysosome membrane;Melanosome;Cell membrane Cystinosis, adult, non-nephropathic type;Cystinosis, late-onset juvenile or adolescent nephropathic type;Cystinosis, nephropathic type 7 PE1 NX_O60934 84959 754 6.5 8 PML body;Golgi apparatus;Nucleoplasm;Telomere;Nucleus;Chromosome Nijmegen breakage syndrome;Breast cancer;Aplastic anemia 0 PE1 NX_O60936 22629 208 4.11 16 Nucleolus;Cytosol;Cytoplasm;Sarcoplasmic reticulum;Nucleus;Membrane;Mitochondrion Myoclonus, familial cortical 0 PE1 NX_O60938 40509 352 7.11 12 Extracellular matrix Cornea plana 2, autosomal recessive 0 PE1 NX_O60939 24326 215 5.98 11 Membrane Atrial fibrillation, familial, 14 1 PE1 NX_O60941 71356 627 8.11 2 Mitochondrion;Cytoplasm NA 0 PE1 NX_O60942 68557 597 8.43 6 Nucleoplasm;Nucleus NA 0 PE1 NX_O71037 79252 699 9.2 19 Virion;Cell membrane NA 1 PE1 NX_O75015 26216 233 6.22 1 Cell membrane;Secreted NA 0 PE1 NX_O75019 53275 489 7.97 19 Membrane NA 1 PE1 NX_O75022 69386 631 6.45 19 Cell membrane NA 1 PE1 NX_O75023 64126 590 6.92 19 Membrane NA 1 PE1 NX_O75027 82641 752 9.37 X Mitochondrion;Mitochondrion inner membrane Anemia, sideroblastic, spinocerebellar ataxia 6 PE1 NX_O75030 58795 526 5.93 3 Nucleus Melanoma, cutaneous malignant 8;Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;Waardenburg syndrome 2, with ocular albinism, autosomal recessive;Tietz albinism-deafness syndrome;Waardenburg syndrome 2A 0 PE1 NX_O75031 37645 334 5.43 21 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_O75037 182662 1637 6.7 1 Axon;Dendrite;Cytoplasmic vesicle;Growth cone;Cytoskeleton NA 0 PE1 NX_O75038 154668 1416 8.04 1 Cytoplasm;Cell membrane NA 0 PE1 NX_O75044 120871 1071 6.25 1 Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus;Phagosome;Dendritic spine;Postsynaptic density;Lamellipodium;Postsynaptic cell membrane NA 0 PE1 NX_O75051 211104 1894 6.05 1 Cell membrane NA 1 PE1 NX_O75052 56150 506 5.89 1 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_O75054 135196 1194 5.75 1 Nucleoplasm;Cytosol;Membrane Lacrimal duct defect 1 PE1 NX_O75056 45497 442 4.61 1 Nucleoplasm;Mitochondrion;Membrane NA 1 PE1 NX_O75061 99997 913 6.82 1 Nucleoplasm;Cytosol;Cell membrane Parkinson disease 19B, early-onset;Parkinson disease 19A, juvenile-onset 0 PE1 NX_O75063 46432 409 6.4 1 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_O75064 163847 1496 6.85 1 Nucleus;Golgi apparatus NA 0 PE1 NX_O75069 77449 709 6.34 1 Endoplasmic reticulum membrane NA 2 PE1 NX_O75071 55031 495 5.98 1 Cytosol;Nucleolus;Golgi apparatus NA 0 PE1 NX_O75072 53724 461 8.63 9 Cytoplasm;Nucleus;Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4;Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4;Cardiomyopathy, dilated 1X;Muscular dystrophy-dystroglycanopathy limb-girdle C4 1 PE1 NX_O75074 82884 770 5.83 19 Coated pit;Membrane NA 1 PE1 NX_O75077 91926 832 7.85 2 Cell membrane;Secreted NA 1 PE1 NX_O75078 83418 769 6.91 17 Membrane NA 1 PE1 NX_O75081 71192 653 8.5 16 Nucleoplasm;Nucleolus;Golgi apparatus membrane NA 0 PE1 NX_O75083 66194 606 6.17 4 Cytoplasm;Cytoskeleton;Podosome;Cell junction;Cell membrane NA 0 PE1 NX_O75084 63620 574 8.12 2 Nucleoplasm;Endosome membrane;Cell membrane NA 7 PE1 NX_O75093 167926 1534 6.14 10 Cell membrane;Secreted NA 0 PE1 NX_O75094 167713 1523 7.99 5 Cell junction;Secreted NA 0 PE1 NX_O75095 161185 1541 5.94 1 Cytoplasm;Cytoskeleton;Secreted NA 0 PE1 NX_O75096 212045 1905 5.06 11 Mitochondrion;Nucleolus;Nucleus;Cell membrane Cenani-Lenz syndactyly syndrome;Myasthenic syndrome, congenital, 17;Sclerosteosis 2 1 PE1 NX_O75106 83673 756 6.54 17 Cytoplasm;Cell membrane NA 0 PE1 NX_O75110 118583 1047 8.01 20 Recycling endosome;Early endosome membrane;trans-Golgi network membrane NA 10 PE1 NX_O75112 77135 727 8.47 10 Pseudopodium;Cytosol;Focal adhesion;Nucleoplasm;Perinuclear region;Cytoskeleton;Z line Left ventricular non-compaction 3;Myopathy, myofibrillar, 4;Cardiomyopathy, dilated 1C, with or without left ventricular non-compaction 0 PE1 NX_O75113 100379 896 5.24 16 PML body;Nucleolus NA 0 PE1 NX_O75116 160900 1388 5.75 2 Cytosol;Cytoplasm;Nucleus;Centrosome;Cell membrane NA 0 PE1 NX_O75121 45380 409 5.13 4 Cytoplasm;Nucleus;Cell membrane NA 1 PE1 NX_O75122 141064 1294 8.62 3 Kinetochore;Cytoskeleton;Ruffle membrane;Golgi apparatus;Cytosol;Cell membrane;trans-Golgi network;Spindle;Centrosome NA 0 PE1 NX_O75123 61392 536 8.52 8 Nucleus NA 0 PE1 NX_O75127 78856 700 8.81 7 Mitochondrion;Mitochondrion matrix NA 0 PE1 NX_O75128 135617 1261 7.66 7 Cytoplasm;Cytoskeleton;Ruffle;Cell junction;Cell membrane NA 0 PE1 NX_O75129 148243 1339 5.66 9 Late endosome;Perikaryon;Nucleoplasm;Early endosome;Cell cortex;Cytoplasmic vesicle;Cytosol;Membrane;Clathrin-coated vesicle NA 2 PE1 NX_O75131 60131 537 5.6 8 Nucleolus;Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Nucleus;Mitochondrion;Cell junction NA 0 PE1 NX_O75132 130322 1171 6.38 22 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_O75140 181264 1603 6.27 22 Cytosol;Perinuclear region;Lysosome membrane;Golgi apparatus Epilepsy, familial focal, with variable foci 1 0 PE1 NX_O75143 56572 517 4.98 11 Cytosol;Nucleoplasm;Preautophagosomal structure;Cell membrane NA 0 PE1 NX_O75144 33349 302 5.15 21 Cytosol;Cell membrane NA 1 PE1 NX_O75145 133496 1194 5.53 19 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Acrosome NA 0 PE1 NX_O75146 119388 1068 6.22 12 Cytosol;Cell membrane;Endomembrane system;Cytoplasmic vesicle;Perinuclear region;Clathrin-coated vesicle membrane NA 0 PE1 NX_O75147 206947 1896 5.42 2 Cytoplasm;Perinuclear region;Centrosome;Golgi apparatus 3M syndrome 2 0 PE1 NX_O75150 113678 1001 5.97 16 Nucleoplasm;Nucleus NA 0 PE1 NX_O75151 120775 1096 9.25 9 Kinetochore;Nucleolus NA 0 PE1 NX_O75152 89131 810 8.62 1 Nucleus speckle NA 0 PE1 NX_O75153 146670 1309 5.75 17 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytoplasmic granule NA 0 PE1 NX_O75154 82440 756 4.44 16 Cleavage furrow;Microtubule organizing center;Cytoplasmic vesicle;Centrosome;Cytoskeleton;Recycling endosome membrane;Midbody NA 0 PE1 NX_O75155 135256 1236 5.44 3 Cytosol;Nucleus NA 0 PE1 NX_O75157 79228 780 4.9 3 Cytosol NA 0 PE1 NX_O75159 61246 536 8.87 2 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 NX_O75161 157598 1426 8.4 1 Nucleus;Centrosome;Tight junction;Cilium basal body Nephronophthisis 4;Senior-Loken syndrome 4 0 PE1 NX_O75164 120662 1064 5.61 1 Nucleolus;Nucleus NA 0 PE1 NX_O75165 254415 2243 6.31 3 Cytosol;Cytoplasmic vesicle;Early endosome membrane;Endosome membrane;Early endosome Parkinson disease 0 PE1 NX_O75167 69700 634 8.14 6 Membrane NA 0 PE1 NX_O75170 104942 966 4.74 22 Cytosol;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 NX_O75173 90197 837 8.18 1 Nucleus speckle;Extracellular matrix NA 0 PE1 NX_O75175 81872 753 5.82 19 Cytosol;Cytoplasm;P-body;Nucleus NA 0 PE1 NX_O75177 42990 396 5.96 20 Cytosol;Nucleoplasm;Kinetochore;Nucleus NA 0 PE1 NX_O75179 274258 2603 6.07 4 Cytoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_O75182 133066 1162 6.48 19 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_O75185 103169 946 5.53 16 Focal adhesion;Cell membrane;Membrane NA 10 PE1 NX_O75190 36087 326 9.17 7 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus;Z line Limb-girdle muscular dystrophy 1E 0 PE1 NX_O75191 58382 536 5.55 3 Nucleus speckle NA 0 PE1 NX_O75192 28353 247 9.68 15 Peroxisome membrane NA 2 PE1 NX_O75197 179145 1615 5.11 11 Endoplasmic reticulum;Membrane Osteoporosis-pseudoglioma syndrome;Polycystic liver disease 4 with or without kidney cysts;Osteopetrosis, autosomal dominant 1;Vitreoretinopathy, exudative 1;Van Buchem disease 2;Vitreoretinopathy, exudative 4;High bone mass trait;Endosteal hyperostosis, Worth type;Osteoporosis 1 PE1 NX_O75200 47714 414 10.35 16 Secreted NA 0 PE2 NX_O75204 25842 238 6.23 2 Cytoplasm;Cell membrane Pheochromocytoma 3 PE1 NX_O75208 35509 318 5.61 16 Mitochondrion;Cytosol Coenzyme Q10 deficiency, primary, 5 0 PE1 NX_O75223 21008 188 5.07 7 Cytoplasm;Cell membrane NA 0 PE1 NX_O75251 23564 213 10.02 19 Mitochondrion Mitochondrial complex I deficiency;Leigh syndrome 0 PE1 NX_O75264 14964 130 5.25 19 Cytosol;Nucleoplasm;Membrane NA 1 PE1 NX_O75290 74531 641 8.96 19 Nucleus NA 0 PE1 NX_O75293 17818 160 4.33 19 Cytosol;Nucleoplasm NA 0 PE1 NX_O75298 59264 545 5.19 19 Endoplasmic reticulum membrane;Nucleus speckle Spastic paraplegia 12, autosomal dominant 2 PE1 NX_O75306 52546 463 7.21 1 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane Mitochondrial complex I deficiency 0 PE1 NX_O75309 89923 829 4.82 16 Cell membrane NA 1 PE1 NX_O75310 61038 529 9.06 4 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_O75311 53800 464 8.6 4 Dendrite;Synapse;Postsynaptic cell membrane;Cell membrane;Perikaryon NA 4 PE1 NX_O75312 50925 459 4.66 11 Cytoplasmic vesicle;Nucleolus;Cajal body;Cytoplasm;Axon;Perinuclear region;Nucleus;Growth cone;Gem NA 0 PE1 NX_O75317 42858 370 6.16 13 NA NA 0 PE1 NX_O75319 43710 377 9.38 2 Nucleus speckle;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_O75323 33743 286 9.42 7 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA 0 PE1 NX_O75324 9497 88 5.19 16 Cytosol;Mitochondrion outer membrane NA 1 PE1 NX_O75325 78859 713 7.06 1 Endoplasmic reticulum;Membrane NA 1 PE1 NX_O75326 74824 666 7.57 15 Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_O75330 84100 724 5.68 5 Cytosol;Cell surface;Cytoskeleton;Centrosome;Cytoplasm NA 0 PE1 NX_O75333 42341 385 9.33 11 Nucleus NA 0 PE2 NX_O75334 143291 1257 5.8 12 Cytoplasm;Cell surface NA 0 PE1 NX_O75335 134404 1185 6.28 1 Cytoplasm;Cell surface NA 0 PE1 NX_O75339 132565 1184 8.76 15 Extracellular matrix Intervertebral disc disease 0 PE1 NX_O75340 21868 191 5.16 5 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Cytosol;Cytoplasm;Endosome;Nucleus NA 0 PE1 NX_O75342 80356 701 7.57 17 Cytosol;Cytoplasm Ichthyosis, congenital, autosomal recessive 2 0 PE1 NX_O75343 70368 617 8.84 13 Cytoplasm NA 0 PE5 NX_O75344 37214 327 6.48 7 Cytosol;Nucleus;Chromosome NA 0 PE1 NX_O75346 57602 499 9.32 19 Nucleus NA 0 PE1 NX_O75347 12855 108 5.25 5 Cytoplasm;Cytoskeleton;Nucleolus NA 0 PE1 NX_O75348 13758 118 8.93 9 Nucleolus;Nucleus NA 0 PE1 NX_O75351 49302 444 6.75 18 Cytoplasmic vesicle;Cytoskeleton;Prevacuolar compartment membrane;Late endosome membrane NA 0 PE1 NX_O75352 26638 247 9.13 17 Mitochondrion;Endoplasmic reticulum;Membrane Congenital disorder of glycosylation 1F 7 PE1 NX_O75354 53246 484 9.32 20 Golgi apparatus membrane;Golgi apparatus;Secreted NA 1 PE1 NX_O75355 59105 529 5.98 3 Cytosol;Membrane NA 2 PE1 NX_O75356 47517 428 5.92 14 Cytosol;Endoplasmic reticulum;Secreted NA 0 PE1 NX_O75360 24984 226 10.36 5 Nucleus Pituitary hormone deficiency, combined, 2 0 PE1 NX_O75362 115272 1048 8.78 20 Nucleus speckle;Nucleus NA 0 PE1 NX_O75363 61709 584 4.99 20 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_O75364 31832 302 9.28 10 Nucleus Cataract 11, multiple types;Anterior segment dysgenesis 1 0 PE1 NX_O75365 19535 173 9.35 8 Cell membrane;Early endosome NA 0 PE1 NX_O75366 92027 819 5.47 12 Axon;Cytoskeleton;Cell projection NA 0 PE1 NX_O75367 39617 372 9.8 5 Nucleus;Chromosome NA 0 PE1 NX_O75368 12774 114 5.22 X Cytoplasmic vesicle NA 0 PE1 NX_O75369 278164 2602 5.47 3 Stress fiber;Golgi apparatus;Cytosol;Cell cortex;Cell membrane;Cytoskeleton;Z line Boomerang dysplasia;Larsen syndrome;Atelosteogenesis 3;Spondylocarpotarsal synostosis syndrome;Atelosteogenesis 1 0 PE1 NX_O75373 61931 536 9.41 19 Nucleus NA 0 PE1 NX_O75376 270210 2440 6.66 17 Nucleus NA 0 PE1 NX_O75379 16397 141 6.75 1 trans-Golgi network membrane;Golgi apparatus NA 1 PE1 NX_O75380 13712 124 8.58 5 Mitochondrion inner membrane Mitochondrial complex I deficiency 0 PE1 NX_O75381 41237 377 4.89 1 Peroxisome membrane;Nucleolus;Peroxisome Peroxisome biogenesis disorder 13A;Peroxisome biogenesis disorder complementation group K 0 PE1 NX_O75382 80830 744 8.03 11 Mitochondrion;Cytoplasm;Dendrite;trans-Golgi network;Early endosome NA 0 PE1 NX_O75385 112631 1050 9.03 12 Cytosol;Preautophagosomal structure NA 0 PE1 NX_O75386 49642 442 7.63 12 Nucleolus;Secreted;Cytoplasm;Cell membrane;Nucleus;Cilium NA 0 PE1 NX_O75387 61477 559 7.85 11 Cytoplasmic vesicle;Cell membrane;Golgi apparatus;Membrane NA 12 PE1 NX_O75388 40087 356 9.35 19 Cell membrane NA 7 PE2 NX_O75390 51712 466 8.45 12 Mitochondrion;Mitochondrion matrix NA 0 PE1 NX_O75391 26034 227 7.69 17 Nucleus NA 0 PE1 NX_O75394 7619 65 10.81 2 Mitochondrion NA 0 PE1 NX_O75396 24593 215 6.43 1 Endoplasmic reticulum membrane;cis-Golgi network membrane;trans-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Melanosome NA 1 PE1 NX_O75398 59327 565 5.21 11 Cytoplasm;Nucleolus;Nucleus;Secreted Dyskinesia, seizures, and intellectual developmental disorder;Mental retardation, autosomal dominant 24 0 PE1 NX_O75400 108805 957 7.18 2 Nucleus matrix;Nucleus;Nucleus speckle NA 0 PE1 NX_O75409 13442 117 4.93 X NA NA 0 PE1 NX_O75410 87794 805 4.82 8 Cytoplasm;Nucleus;Centrosome;Midbody;Membrane NA 0 PE1 NX_O75414 21142 186 8.51 3 Cytoplasmic vesicle NA 0 PE1 NX_O75417 289619 2590 7.07 3 Cytosol;Nucleus;Golgi apparatus;Chromosome Breast cancer 0 PE1 NX_O75419 65569 566 5.31 22 Cytosol;Cytoplasm;Nucleus;Centrosome;Nucleoplasm Meier-Gorlin syndrome 7 0 PE1 NX_O75420 114601 1035 5.29 7 Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 NX_O75425 25519 235 9.29 7 Cytosol;Nucleoplasm;Membrane NA 2 PE1 NX_O75426 64889 580 9.01 7 NA NA 0 PE1 NX_O75427 73450 683 8.55 7 Cytosol;Nucleoplasm;Focal adhesion NA 0 PE1 NX_O75431 29763 263 5.9 2 Mitochondrion;Nucleolus;Mitochondrion outer membrane NA 0 PE1 NX_O75436 38170 327 6.13 10 Endosome;Golgi apparatus;Lysosome;Cytoplasm;Cell membrane;Endosome membrane;Early endosome NA 0 PE1 NX_O75437 77160 659 9.4 19 Nucleus NA 0 PE1 NX_O75438 6961 58 9.03 14 Mitochondrion;Cytoplasm;Mitochondrion inner membrane;Nucleus speckle NA 1 PE1 NX_O75439 54366 489 6.38 7 Mitochondrion matrix;Mitochondrion Multiple mitochondrial dysfunctions syndrome 6 0 PE1 NX_O75443 239527 2155 5.23 11 Cell membrane;Extracellular matrix Deafness, autosomal recessive, 21;Deafness, autosomal dominant, 12 0 PE1 NX_O75444 38492 373 6.44 16 Nucleus Ayme-Gripp syndrome;Cataract 21, multiple types 0 PE1 NX_O75445 575600 5202 6.4 1 Secreted;Stereocilium membrane Usher syndrome 2A;Retinitis pigmentosa 39 1 PE1 NX_O75446 23306 220 9.28 4 Nucleoplasm;Nucleus NA 0 PE1 NX_O75448 110305 989 6.51 17 Nucleus NA 0 PE1 NX_O75449 55965 491 6.47 6 Cytoplasm;Cell membrane;Centrosome;Midbody;Nucleus;Spindle;Microtubule organizing center;Spindle pole NA 0 PE1 NX_O75452 35673 317 8.83 12 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_O75459 16150 146 4.15 X Mitochondrion;Nucleolus;Nucleus NA 0 PE1 NX_O75460 109735 977 5.98 17 Endoplasmic reticulum membrane NA 1 PE1 NX_O75461 31844 281 5.35 2 Nucleoplasm;Nucleus NA 0 PE1 NX_O75462 46302 422 9.3 19 Secreted Crisponi/Cold-induced sweating syndrome 1 0 PE1 NX_O75467 61104 553 9.69 19 Cytosol;Nucleus;Nucleus membrane NA 0 PE1 NX_O75469 49762 434 8.7 3 Nucleoplasm;Nucleus NA 0 PE1 NX_O75473 99998 907 6.12 12 trans-Golgi network membrane;Cell membrane NA 7 PE1 NX_O75474 24051 233 5.4 10 Mitochondrion;Nucleus NA 0 PE1 NX_O75475 60103 530 9.15 9 Nucleoplasm;Nucleus NA 0 PE1 NX_O75477 38926 346 7.67 10 Endoplasmic reticulum membrane;Endoplasmic reticulum Spastic paraplegia 62, autosomal recessive 1 PE1 NX_O75478 51506 443 6.45 17 Nucleus speckle;Nucleus;Chromosome NA 0 PE1 NX_O75486 35793 317 6.41 6 Nucleoplasm;Nucleus NA 0 PE1 NX_O75487 62412 556 6.26 X Cytoplasmic vesicle;Extracellular space;Cell membrane NA 0 PE1 NX_O75489 30242 264 6.98 11 Mitochondrion;Mitochondrion inner membrane;Nucleus NA 0 PE1 NX_O75493 36238 328 9.78 19 Cytoplasmic vesicle;Cytoskeleton;Secreted NA 0 PE1 NX_O75494 31301 262 11.26 1 Nucleoplasm;Nucleus speckle;Cytoplasm NA 0 PE1 NX_O75496 23565 209 4.93 6 Nucleoplasm;Cytoplasm;Nucleus Meier-Gorlin syndrome 6 0 PE1 NX_O75503 41497 358 7.04 13 Lysosome;Membrane Ceroid lipofuscinosis, neuronal, 5 1 PE1 NX_O75506 8544 76 4.17 16 Nucleus NA 0 PE1 NX_O75508 21993 207 8.22 3 Tight junction;Cell membrane NA 4 PE1 NX_O75509 71845 655 8.09 6 Cell membrane NA 1 PE1 NX_O75521 43585 394 9.13 6 Mitochondrion;Peroxisome matrix;Peroxisome NA 0 PE1 NX_O75525 38800 346 7.04 8 Nucleoplasm;Nucleus NA 0 PE1 NX_O75526 42814 392 10.33 11 Nucleus NA 0 PE1 NX_O75528 48902 432 5.9 3 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_O75529 66155 589 5.55 1 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 NX_O75530 50198 441 6.57 11 Nucleoplasm;Nucleus;Chromosome Cohen-Gibson syndrome 0 PE1 NX_O75531 10059 89 5.81 11 Cytosol;Cytoplasm;Nucleus envelope;Nucleoplasm;Nucleus;Chromosome Nestor-Guillermo progeria syndrome 0 PE1 NX_O75533 145830 1304 6.65 2 Nucleus speckle;Nucleus NA 0 PE1 NX_O75534 88885 798 5.88 1 Cytosol;Cytoplasm NA 0 PE1 NX_O75541 46794 412 6.14 16 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_O75553 63775 588 4.88 1 Cytoplasmic vesicle Spinocerebellar ataxia 37 0 PE1 NX_O75554 42507 376 5.45 13 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cell membrane;Nucleus speckle NA 0 PE1 NX_O75556 10884 95 5.48 11 Secreted NA 0 PE1 NX_O75558 33196 287 6.11 6 Mitochondrion;trans-Golgi network membrane;Nucleus;Membrane Familial hemophagocytic lymphohistiocytosis 4 0 PE1 NX_O75563 41217 359 4.54 7 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_O75564 61815 556 8.18 8 Nucleolus;Nucleus NA 0 PE1 NX_O75569 34404 313 8.68 2 Cytosol;Cytoplasm;Perinuclear region;Nucleoplasm Dystonia 16 0 PE1 NX_O75570 52306 445 8.75 13 Mitochondrion NA 0 PE1 NX_O75575 16871 148 5.29 7 Nucleus;Cell membrane NA 0 PE1 NX_O75578 127602 1167 6.21 1 Membrane NA 1 PE1 NX_O75581 180429 1613 5.12 12 Cell membrane;Membrane raft;Endoplasmic reticulum Tooth agenesis, selective, 7;Coronary artery disease, autosomal dominant, 2 1 PE1 NX_O75582 89865 802 6.63 14 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_O75586 28425 246 8.71 14 Nucleoplasm;Nucleus NA 0 PE1 NX_O75592 513636 4678 6.61 13 Cytoplasmic vesicle;Axon;Cytoskeleton;Nucleus NA 0 PE1 NX_O75593 39257 365 9.6 8 Nucleus NA 0 PE1 NX_O75594 21731 196 8.92 19 Cytoplasmic granule;Secreted NA 0 PE1 NX_O75596 22233 197 9.07 16 Secreted NA 0 PE1 NX_O75600 45285 419 8.3 22 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 NX_O75602 55476 509 6.37 10 Cytoplasm;Cytoskeleton;Flagellum NA 0 PE1 NX_O75603 56610 506 7.14 6 Nucleus Hypoparathyroidism, familial isolated;Hyperparathyroidism 4 0 PE1 NX_O75604 68072 605 9.15 11 Cytosol;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Membrane NA 0 PE1 NX_O75607 19344 178 4.55 10 Cytosol;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_O75608 24670 230 6.29 8 Cytoplasm NA 0 PE1 NX_O75610 40880 366 8.6 1 Secreted NA 0 PE1 NX_O75616 48350 437 9.05 17 Mitochondrion matrix;Cytosol;Mitochondrion;Mitochondrion inner membrane Perrault syndrome 6 0 PE1 NX_O75618 36794 318 9.07 1 Nucleoplasm;Cytoplasm;Nucleolus NA 0 PE1 NX_O75626 91771 825 8.76 6 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_O75628 32947 298 9.02 20 NA NA 0 PE1 NX_O75629 24075 220 7.06 1 Cytoplasmic vesicle;Cytoskeleton;Secreted NA 0 PE1 NX_O75631 30670 287 4.69 22 Endoplasmic reticulum membrane;Nucleus;Nucleus membrane NA 1 PE1 NX_O75635 42905 380 6.34 18 Mitochondrion;Cytoplasm;Endoplasmic reticulum Keratoderma, palmoplantar, Nagashima type 0 PE1 NX_O75636 32903 299 6.2 1 Secreted Ficolin 3 deficiency 0 PE1 NX_O75638 21090 210 10.02 X Centrosome NA 0 PE1 NX_O75643 244508 2136 5.73 2 Nucleoplasm;Nucleus Retinitis pigmentosa 33 0 PE1 NX_O75648 47745 421 8.24 22 Mitochondrion;Nucleoplasm Deafness, aminoglycoside-induced;Liver failure, infantile, transient 0 PE1 NX_O75663 31444 272 5.6 1 Cytosol;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 NX_O75665 116671 1012 5.82 X Centriole;Cytoskeleton;Nucleus;Centriolar satellite;Cilium basal body Retinitis pigmentosa 23;Joubert syndrome 10;Orofaciodigital syndrome 1;Simpson-Golabi-Behmel syndrome 2 0 PE1 NX_O75674 52989 476 5.11 17 Endosome membrane;Cytoplasm;Golgi stack;Membrane NA 0 PE1 NX_O75676 85606 772 8.51 11 Cytosol;Nucleus NA 0 PE1 NX_O75677 35491 317 7.49 22 Cytoplasm;Nucleus NA 0 PE1 NX_O75678 42077 378 8.08 22 NA NA 0 PE2 NX_O75679 35386 317 7.43 22 Cytoplasm;Nucleus NA 0 PE1 NX_O75683 41450 361 10.65 9 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_O75688 52643 479 4.95 2 Cytosol;Nucleolus;Membrane NA 0 PE1 NX_O75689 43395 374 9.1 7 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_O75690 17519 187 8.24 11 NA NA 0 PE2 NX_O75691 318385 2785 7.07 12 Nucleolus;Cell membrane NA 0 PE1 NX_O75694 155199 1391 5.78 5 Nuclear pore complex;Nucleus membrane Atrial fibrillation, familial, 15 0 PE1 NX_O75695 39641 350 5 X Nucleoplasm;Nucleus;Cilium;Cell membrane Retinitis pigmentosa 2 0 PE1 NX_O75711 11081 98 6.23 4 Secreted NA 0 PE1 NX_O75712 30818 270 8.94 1 Cytoplasmic vesicle;Gap junction;Cell junction;Cell membrane Deafness, autosomal dominant, 2B;Erythrokeratodermia variabilis et progressiva 1 4 PE1 NX_O75715 25202 221 8.83 6 Secreted NA 0 PE1 NX_O75716 34656 305 6.42 2 Cytosol;Perinuclear region;Membrane NA 0 PE1 NX_O75717 125967 1129 5.42 14 Nucleoplasm NA 0 PE1 NX_O75718 46562 401 5.5 3 Cytosol;Cytoskeleton;Extracellular matrix Osteogenesis imperfecta 7 0 PE1 NX_O75746 74762 678 8.57 2 Cytosol;Nucleus speckle;Mitochondrion inner membrane Epileptic encephalopathy, early infantile, 39 6 PE1 NX_O75747 165715 1445 6.46 12 Membrane NA 0 PE1 NX_O75751 61280 556 8.92 6 Cytosol;Cytoplasmic vesicle;Nucleoplasm;Membrane NA 7 PE1 NX_O75752 39512 331 7.67 3 Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 NX_O75762 127501 1119 6.69 8 Cell membrane Episodic pain syndrome, familial, 1 6 PE1 NX_O75764 38972 348 9.32 1 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_O75771 35049 328 5.89 17 Nucleus;Centrosome;Telomere Breast-ovarian cancer, familial, 4 0 PE1 NX_O75781 42076 387 4.94 19 Basolateral cell membrane;Apicolateral cell membrane;Cell membrane;Axon;Dendrite;Nucleus;Dendritic spine;Filopodium membrane NA 0 PE1 NX_O75783 48314 438 8.04 16 Nucleoplasm;Membrane NA 7 PE1 NX_O75787 39008 350 5.76 X Membrane Parkinsonism with spasticity, X-linked;Mental retardation, X-linked, with epilepsy 1 PE1 NX_O75791 37909 330 6.44 22 Cytoplasm;Endosome;Nucleus NA 0 PE1 NX_O75792 33395 299 5.14 19 Cytosol;Nucleus Aicardi-Goutieres syndrome 4 0 PE1 NX_O75794 39135 336 4.64 10 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus NA 0 PE1 NX_O75795 61095 530 8.76 4 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_O75800 50344 440 5.81 3 Cytosol;Cytoplasm;Centriolar satellite;Apical cell membrane;Cell membrane Ciliary dyskinesia, primary, 22 0 PE1 NX_O75807 73478 674 4.55 19 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Mitochondrion outer membrane NA 0 PE1 NX_O75808 117314 1086 6.27 16 Nucleus NA 0 PE1 NX_O75815 92566 825 8.19 1 Cytosol;Centrosome;Cell membrane NA 0 PE1 NX_O75817 15651 140 9.09 7 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Cytoplasmic granule NA 0 PE1 NX_O75818 41834 363 6.21 6 Nucleoplasm;Nucleolus NA 0 PE1 NX_O75820 72976 626 8.85 9 Cytoskeleton;Nucleus NA 0 PE1 NX_O75821 35611 320 5.87 19 Cytosol;Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 NX_O75822 29062 258 4.72 15 Cytosol;Cytoplasm NA 0 PE1 NX_O75828 30850 277 5.82 21 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 NX_O75829 37102 334 7.5 13 Extracellular matrix;Endomembrane system NA 1 PE1 NX_O75830 46145 405 5.08 3 Secreted NA 0 PE1 NX_O75832 24428 226 5.71 X Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_O75838 21644 187 4.48 15 Photoreceptor inner segment;Cytoplasm;Stereocilium;Photoreceptor outer segment;Sarcolemma Usher syndrome 1J;Deafness, autosomal recessive, 48 0 PE1 NX_O75840 33362 302 8.19 2 Nucleus;Golgi apparatus NA 0 PE1 NX_O75841 29643 260 5.16 3 Membrane NA 4 PE1 NX_O75843 87117 785 6.09 14 Endosome membrane;Cytoplasmic vesicle membrane;Golgi apparatus membrane NA 0 PE1 NX_O75844 54813 475 7.11 1 Endoplasmic reticulum membrane;Cytosol;Nucleus inner membrane;Golgi apparatus Mandibuloacral dysplasia with type B lipodystrophy;Lethal tight skin contracture syndrome 7 PE1 NX_O75845 35301 299 7.85 11 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum;Cell membrane Lathosterolosis 4 PE1 NX_O75864 74767 691 4.97 19 Cytosol NA 0 PE1 NX_O75865 17605 159 5.14 19 Endoplasmic reticulum;cis-Golgi network;Golgi apparatus NA 0 PE1 NX_O75871 25909 244 6.03 19 Membrane NA 1 PE1 NX_O75874 46659 414 6.53 2 Cytosol;Cytoplasm;Nucleus;Peroxisome Glioma 0 PE1 NX_O75879 61864 557 8.85 4 Mitochondrion NA 0 PE1 NX_O75880 33814 301 9.01 17 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex IV deficiency 1 PE1 NX_O75881 58256 506 8.2 8 Endoplasmic reticulum membrane;Microsome membrane Spastic paraplegia 5A, autosomal recessive;Congenital bile acid synthesis defect 3 0 PE1 NX_O75882 158537 1429 7.24 20 Cytosol;Cell membrane;Secreted NA 1 PE1 NX_O75884 21000 186 5.79 20 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_O75886 58164 525 4.94 2 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Early endosome membrane;Cytosol NA 0 PE1 NX_O75888 27433 250 9.67 17 Secreted NA 0 PE1 NX_O75891 98829 902 5.63 3 Cytosol;Cytoplasm NA 0 PE1 NX_O75896 12074 110 9.69 3 Cytosol;Cytoplasmic vesicle NA 0 PE1 NX_O75897 35520 302 8.22 2 Cytosol;Cytoplasm NA 0 PE1 NX_O75899 105821 941 8.89 9 Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, early infantile, 59;Neurodevelopmental disorder with poor language and loss of hand skills 7 PE1 NX_O75900 43935 390 9.94 1 Endoplasmic reticulum membrane;Membrane NA 1 PE1 NX_O75901 50021 435 5.2 12 Endosome NA 0 PE1 NX_O75907 55278 488 9.41 8 Endoplasmic reticulum membrane;Nucleolus;Endoplasmic reticulum Diarrhea 7 3 PE1 NX_O75908 59896 522 8.96 12 Endoplasmic reticulum membrane NA 5 PE1 NX_O75909 64240 580 8.6 14 Nucleoplasm;Nucleus NA 0 PE1 NX_O75911 33548 302 9.07 1 Mitochondrion;Nucleolus;Membrane NA 4 PE1 NX_O75912 116997 1065 7.98 7 Cytoplasm;Nucleus NA 0 PE1 NX_O75914 62310 559 5.33 X Cytosol;Cytoplasm Mental retardation, X-linked 30 0 PE1 NX_O75915 21615 188 9.77 3 Endoplasmic reticulum membrane;Cytoplasm;Cytoskeleton;Cell membrane;Endoplasmic reticulum NA 4 PE1 NX_O75916 76966 674 9.42 17 Nucleoplasm;Membrane Prolonged electroretinal response suppression 0 PE1 NX_O75920 12349 110 9.79 5 Nucleus NA 0 PE2 NX_O75923 237295 2080 5.44 2 Cytoplasmic vesicle membrane;Sarcolemma;Cell membrane;Microtubule organizing center Miyoshi muscular dystrophy 1;Limb-girdle muscular dystrophy 2B;Distal myopathy with anterior tibial onset 1 PE1 NX_O75925 71836 651 6.9 15 Nucleus speckle;Cytoskeleton;PML body NA 0 PE1 NX_O75928 68240 621 7.47 18 Nucleoplasm;Nucleus speckle;Nucleus;PML body NA 0 PE1 NX_O75934 26131 225 5.48 1 Nucleus speckle;Nucleolus;Centrosome NA 0 PE1 NX_O75935 21119 186 5.37 9 Kinetochore;Nucleolus;Cleavage furrow;Cytosol;Cytoplasm;Centrosome;Spindle;Midbody NA 0 PE1 NX_O75936 44715 387 6.28 11 Cytoplasm NA 0 PE1 NX_O75937 29842 253 9.04 1 Nucleoplasm;Nucleus NA 0 PE1 NX_O75940 26711 238 6.78 10 Nucleus speckle;Nucleus;Cajal body NA 0 PE1 NX_O75943 77055 681 6.63 5 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_O75947 18491 161 5.21 17 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane NA 0 PE1 NX_O75949 52605 473 8.29 X Membrane NA 2 PE2 NX_O75951 16956 148 5.73 17 Cell surface;Flagellum;Secreted NA 0 PE1 NX_O75952 52774 493 4.51 18 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Flagellum NA 0 PE1 NX_O75953 39133 348 9.12 9 Cytosol;Nucleus NA 0 PE1 NX_O75954 26779 239 7.89 12 Cytosol;Nucleoplasm;Golgi apparatus;Membrane NA 4 PE1 NX_O75955 47355 427 7.08 6 Endosome;Melanosome;Golgi apparatus;Cell membrane;Cytoplasmic vesicle;Caveola;Membrane raft NA 0 PE1 NX_O75956 13101 126 9.51 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_O75962 346900 3097 5.94 5 Cytoplasmic vesicle;Cytoplasm;Cytosol Mental retardation, autosomal dominant 44 0 PE1 NX_O75964 11428 103 9.65 11 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_O75969 94751 853 5.84 12 Acrosome NA 0 PE1 NX_O75970 221618 2070 4.95 9 Synaptosome;Synapse;Apical cell membrane;Cell membrane;Dendrite;Postsynaptic density;Tight junction Hydrocephalus, congenital, 2, with or without brain or eye anomalies 0 PE1 NX_O75971 11328 98 4.55 15 Nucleus NA 0 PE1 NX_O75973 26453 258 5.32 17 Secreted NA 0 PE1 NX_O75976 152931 1380 5.68 17 Nucleoplasm;Nucleus speckle;Cell membrane;Nucleus membrane NA 1 PE1 NX_O75995 41595 380 5.17 X Cell membrane NA 0 PE1 NX_O76000 35543 313 8.77 6 Cell membrane NA 7 PE3 NX_O76001 34950 311 7.6 6 Cell membrane NA 7 PE1 NX_O76002 35204 312 8.5 6 Cell membrane NA 7 PE2 NX_O76003 37432 335 5.31 10 Cytosol;Cell cortex;Z line NA 0 PE1 NX_O76009 45940 404 4.78 17 NA NA 0 PE1 NX_O76011 49424 436 5.01 17 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_O76013 52247 467 4.9 17 NA NA 0 PE1 NX_O76014 49747 449 4.9 17 NA NA 0 PE1 NX_O76015 50480 456 4.79 17 NA NA 0 PE1 NX_O76021 54973 490 10.13 16 Nucleolus NA 0 PE1 NX_O76024 100292 890 8.34 4 Endoplasmic reticulum membrane Cataract 41;Wolfram-like syndrome autosomal dominant;Wolfram syndrome 1;Deafness, autosomal dominant, 6 11 PE1 NX_O76027 38364 345 5.53 1 Cytosol;Nucleus speckle NA 0 PE1 NX_O76031 69224 633 7.51 15 Mitochondrion nucleoid;Mitochondrion Protoporphyria, erythropoietic, 2 0 PE1 NX_O76036 34481 304 7.63 19 Cell membrane;Endoplasmic reticulum NA 1 PE1 NX_O76038 32040 276 5.25 6 Cytoplasm;Secretory vesicle membrane;Secreted NA 0 PE1 NX_O76039 115538 1030 9.58 X Nucleoplasm;Nucleus;Centrosome;Cilium basal body Epileptic encephalopathy, early infantile, 2 0 PE1 NX_O76041 116453 1014 7.89 10 Cytoplasm NA 0 PE1 NX_O76042 14968 136 8.57 3 NA NA 0 PE5 NX_O76050 61860 574 8.89 10 Postsynaptic density;Perinuclear region;Perikaryon;Cell membrane;Dendrite NA 0 PE1 NX_O76054 46145 403 7.95 22 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_O76061 33249 302 6.93 5 Endoplasmic reticulum;Secreted NA 0 PE1 NX_O76062 46406 418 9.05 11 Endoplasmic reticulum membrane;Microsome membrane;Cytoplasmic vesicle;Endoplasmic reticulum NA 7 PE1 NX_O76064 55518 485 7.08 6 Cytosol;Cytoplasm;Nucleus;Midbody;Telomere NA 0 PE1 NX_O76070 13331 127 4.89 10 Spindle;Perinuclear region;Centrosome NA 0 PE1 NX_O76071 37840 339 4.81 2 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_O76074 99985 875 5.74 4 Cytosol NA 0 PE1 NX_O76075 39110 338 9.2 1 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_O76076 26825 250 8.32 20 Secreted NA 0 PE1 NX_O76080 23132 213 8.86 9 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 NX_O76081 43692 388 6.48 8 Cytoplasm;Nucleus;Membrane NA 0 PE1 NX_O76082 62752 557 8.07 5 Mitochondrion;Membrane Systemic primary carnitine deficiency 12 PE1 NX_O76083 68493 593 5.85 21 Sarcolemma;Golgi apparatus;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Perinuclear region;Ruffle membrane NA 0 PE1 NX_O76087 12978 117 4.3 X NA NA 0 PE2 NX_O76090 67684 585 6.43 11 Basolateral cell membrane;Cell membrane Bestrophinopathy, autosomal recessive;Macular dystrophy, vitelliform, 2;Retinitis pigmentosa 50;Vitreoretinochoroidopathy, autosomal dominant 4 PE1 NX_O76093 23989 207 9.86 5 Secreted NA 0 PE1 NX_O76094 74606 671 9.31 4 Cytoplasm;Endoplasmic reticulum Bone marrow failure syndrome 1 0 PE1 NX_O76095 16358 146 8.67 1 Cytoplasm;Cytoplasmic vesicle;Spindle;Membrane;Mitochondrion;Cytoskeleton;Centrosome NA 1 PE1 NX_O76096 16454 145 8.82 20 Cytoplasm;Secreted NA 0 PE1 NX_O76099 35519 320 7.55 19 Cell membrane NA 7 PE2 NX_O76100 34406 309 8.02 19 Cell membrane NA 7 PE3 NX_O77932 44929 396 7.6 6 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_O94759 171198 1503 7.27 21 Perikaryon;Nucleus membrane;Lysosome;Cell membrane;Cytoplasmic vesicle;Cell projection NA 6 PE1 NX_O94760 31122 285 5.53 1 Cytosol;Nucleolus;Cell membrane NA 0 PE1 NX_O94761 133067 1208 8.45 8 Cytoplasm;Nucleus Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 0 PE1 NX_O94762 108858 991 8.86 17 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_O94763 59832 535 4.92 19 Nucleoplasm;Cytosol;Cytoplasm;Dendrite;Nucleus;Mitochondrion NA 0 PE1 NX_O94766 37122 335 8.4 11 Golgi apparatus membrane;cis-Golgi network Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 1 PE1 NX_O94768 42344 372 5.13 2 Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;Nucleus;Cell membrane NA 0 PE1 NX_O94769 79789 699 5.3 9 Extracellular matrix NA 0 PE1 NX_O94772 14669 140 6.91 8 Cell membrane NA 0 PE1 NX_O94776 75023 668 9.7 11 Nucleoplasm;Nucleus NA 0 PE1 NX_O94777 9312 84 9.82 9 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1U 2 PE1 NX_O94778 27381 261 6.41 16 Membrane NA 6 PE2 NX_O94779 120686 1100 5.99 11 Cytosol;Cell membrane NA 0 PE1 NX_O94782 88207 785 5.37 1 Nucleoplasm;Nucleus NA 0 PE1 NX_O94788 56724 518 5.79 15 Cytoplasm NA 0 PE1 NX_O94804 112135 968 6.52 5 Cell membrane Testicular germ cell tumor 0 PE1 NX_O94805 46877 426 5.48 7 Nucleolus;Nucleus NA 0 PE1 NX_O94806 100471 890 6.42 2 Cytosol;Cytoplasm;Nucleoplasm;Membrane NA 0 PE1 NX_O94808 76931 682 7.03 5 Cytoplasmic vesicle NA 0 PE1 NX_O94810 52946 467 8.99 16 NA NA 0 PE1 NX_O94811 23694 219 9.48 5 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Mitochondrion NA 0 PE1 NX_O94812 131901 1187 5.95 16 Cytosol;Recycling endosome membrane;Late endosome membrane;trans-Golgi network membrane;Cell membrane NA 0 PE1 NX_O94813 169870 1529 6.8 4 Secreted NA 0 PE1 NX_O94817 15113 140 5.01 5 Cytoplasm;Preautophagosomal structure membrane NA 0 PE1 NX_O94818 71357 638 5.42 18 Nucleolus;Nucleus NA 0 PE1 NX_O94819 65720 623 5.78 8 Cytoskeleton NA 0 PE1 NX_O94822 200552 1766 5.89 21 Cytosol NA 0 PE1 NX_O94823 165391 1461 6.46 5 Endoplasmic reticulum membrane;Cytoplasmic vesicle membrane NA 10 PE1 NX_O94826 67455 608 6.75 3 Mitochondrion;Cell membrane;Mitochondrion outer membrane NA 1 PE1 NX_O94827 117451 1062 5.93 1 Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Lamellipodium;Cell junction Charcot-Marie-Tooth disease, recessive, intermediate type, C;Distal spinal muscular atrophy, autosomal recessive, 4 0 PE1 NX_O94829 108195 963 5.15 1 Cytoplasm;Nucleus NA 0 PE1 NX_O94830 81032 711 5.23 8 Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;cis-Golgi network;Microtubule organizing center Spastic paraplegia 54, autosomal recessive 0 PE1 NX_O94832 116202 1006 9.44 17 Cytosol NA 0 PE1 NX_O94842 66195 621 4.92 14 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 NX_O94844 79417 696 6.42 10 Cytosol;Nucleoplasm NA 0 PE1 NX_O94850 75996 711 10.18 12 Endoplasmic reticulum membrane;Dendritic spine membrane;Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Perikaryon NA 0 PE1 NX_O94851 126689 1124 8.9 11 Nucleus;Golgi apparatus NA 0 PE1 NX_O94854 135148 1291 4.14 1 Cytoskeleton;Cell junction;Cell membrane NA 0 PE1 NX_O94855 113010 1032 6.91 4 Cytoplasmic vesicle;Cytosol;COPII-coated vesicle membrane;Endoplasmic reticulum membrane Cole-Carpenter syndrome 2 0 PE1 NX_O94856 150027 1347 6.24 1 Cell membrane NA 1 PE1 NX_O94864 46193 414 5.01 2 Nucleoplasm;Nucleus NA 0 PE1 NX_O94868 84276 740 5.55 11 Nucleus speckle;Cytoskeleton;Focal adhesion;Cell membrane NA 0 PE1 NX_O94874 89595 794 6.35 6 Cytosol;Endoplasmic reticulum NA 0 PE1 NX_O94875 124108 1100 8.56 4 Nucleoplasm;Lamellipodium;Focal adhesion;Apical cell membrane;Perinuclear region NA 0 PE1 NX_O94876 72083 653 6.12 3 Endoplasmic reticulum membrane NA 2 PE1 NX_O94880 100053 888 5.22 7 Cytosol;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_O94885 136653 1247 5.78 6 Cytosol;Nucleoplasm NA 0 PE1 NX_O94886 92126 807 6.98 1 Cytoplasmic vesicle;Lysosome membrane;Microtubule organizing center NA 10 PE1 NX_O94887 119888 1054 8.96 2 Cytosol NA 0 PE1 NX_O94888 54862 489 5.06 3 Nucleoplasm;Nucleus NA 0 PE1 NX_O94889 63638 574 5.36 3 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_O94892 74836 652 9.04 19 Nucleoplasm;Nucleus NA 0 PE1 NX_O94898 118965 1065 5.35 1 Cytoplasm;Nucleus;Cell membrane;Golgi apparatus Urofacial syndrome 2 1 PE1 NX_O94900 57513 526 6.85 8 Nucleolus;Nucleus NA 0 PE1 NX_O94901 90064 812 6.61 7 Cytoplasm;Nucleus inner membrane;Nucleus membrane NA 1 PE1 NX_O94903 30344 275 7.09 8 Cytosol;Cytoplasm;Nucleus Epilepsy, early-onset, vitamin B6-dependent 0 PE1 NX_O94905 37840 339 5.47 8 Endoplasmic reticulum membrane;Endoplasmic reticulum Spastic paraplegia 18, autosomal recessive 1 PE1 NX_O94906 106925 941 8.49 20 Nucleoplasm;Nucleus speckle Retinitis pigmentosa 60 0 PE1 NX_O94907 28672 266 8.8 10 Secreted NA 0 PE1 NX_O94910 162717 1474 6.17 19 Synaptosome;Synapse;Cell membrane;Axon;Presynaptic cell membrane;Growth cone NA 7 PE1 NX_O94911 179245 1581 6.81 17 Cytosol;Nucleoplasm;Cell membrane NA 14 PE1 NX_O94913 173050 1555 8.65 11 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_O94915 339598 3013 5.36 4 Cytosol;Cytoskeleton NA 0 PE1 NX_O94916 165763 1531 5.12 16 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_O94919 55017 500 5.55 11 Nucleus membrane;Secreted NA 0 PE1 NX_O94921 53057 469 9.06 7 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_O94923 70101 617 9.04 15 Mitochondrion;Golgi apparatus membrane NA 1 PE1 NX_O94925 73461 669 7.85 2 Mitochondrion;Cytosol NA 0 PE1 NX_O94927 71682 633 8.83 19 Spindle;Centrosome NA 0 PE1 NX_O94929 77802 683 8.86 5 Nucleoplasm;Cytoplasm;Cell junction;Cell membrane NA 0 PE1 NX_O94933 108934 977 7.03 3 Mitochondrion;Membrane NA 1 PE1 NX_O94941 58966 541 7.53 20 Nucleoplasm;Nucleus NA 0 PE1 NX_O94952 72270 628 5.73 12 Mitochondrion NA 0 PE1 NX_O94953 121897 1096 6.72 19 Cytosol;Nucleus NA 0 PE1 NX_O94955 69413 611 7.72 5 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_O94956 76711 709 8.7 11 Cell membrane NA 12 PE1 NX_O94964 159760 1423 6.08 20 Cytosol;Nucleolus;Secreted NA 0 PE1 NX_O94966 145651 1318 5.89 3 Endoplasmic reticulum membrane NA 1 PE1 NX_O94967 101949 919 5.59 1 Cytoskeleton NA 0 PE1 NX_O94972 107906 964 5.04 17 Perinuclear region;Peroxisome Mulibrey nanism 0 PE1 NX_O94973 103960 939 6.53 11 Nucleoplasm;Cytoplasmic vesicle;Coated pit;Cell membrane NA 0 PE1 NX_O94979 133015 1220 6.43 4 Endoplasmic reticulum membrane;Cytoplasm;COPII-coated vesicle membrane;Cytoplasmic vesicle;Cytosol NA 0 PE1 NX_O94983 131530 1202 6.92 17 Mitochondrion;Cytoskeleton;Nucleus NA 0 PE1 NX_O94985 109793 981 4.81 1 Endoplasmic reticulum membrane;Golgi apparatus membrane;Postsynaptic cell membrane;Nucleus;Cell projection NA 1 PE1 NX_O94986 195626 1710 5.45 15 Centriole;Centrosome Microcephaly 9, primary, autosomal recessive;Seckel syndrome 5 0 PE1 NX_O94988 116932 1023 6.07 4 Cytosol;Nucleolus;Cell junction NA 0 PE1 NX_O94989 91940 841 8.61 17 Dendrite;Cell membrane NA 0 PE1 NX_O94991 107486 958 6.48 13 Nucleoplasm;Golgi apparatus;Membrane NA 1 PE1 NX_O94992 40623 359 4.84 17 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_O94993 81854 753 6.92 5 Nucleus NA 0 PE1 NX_O95006 35294 317 8.66 7 Cell membrane NA 7 PE2 NX_O95007 35299 311 8.82 7 Cell membrane NA 7 PE2 NX_O95013 35094 312 9.03 8 Cell membrane NA 7 PE3 NX_O95025 89651 777 7.94 7 Golgi apparatus;Cell membrane;Secreted NA 0 PE1 NX_O95045 35527 317 6.21 2 Mitochondrion;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_O95047 34802 310 9.18 6 Cell membrane NA 7 PE2 NX_O95049 101397 919 6.29 19 Nucleoplasm;Nucleus;Tight junction;Cell membrane;Cell junction NA 0 PE1 NX_O95050 28891 263 5.15 7 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus NA 0 PE1 NX_O95057 22329 198 8.94 19 Cell membrane NA 0 PE1 NX_O95059 13693 124 7.62 3 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_O95067 45282 398 9 15 Cytosol;Cytoskeleton;Golgi apparatus NA 0 PE1 NX_O95069 47093 426 8.46 1 Endoplasmic reticulum membrane;Cell membrane NA 4 PE1 NX_O95070 32011 293 8.98 11 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus;Microtubule organizing center NA 5 PE1 NX_O95071 309352 2799 5.59 8 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_O95072 62614 547 5 14 Nucleoplasm;Nucleus;Centromere;Chromosome NA 0 PE1 NX_O95073 34768 299 6.62 8 Nucleus NA 0 PE1 NX_O95076 36935 343 8.81 1 Nucleus Frontonasal dysplasia 1 0 PE1 NX_O95081 48963 481 9.28 7 NA NA 0 PE1 NX_O95084 43001 383 9.48 11 Golgi apparatus;Secreted NA 0 PE1 NX_O95096 30133 273 7.81 20 Nucleus NA 0 PE1 NX_O95104 125869 1147 9.58 21 Nucleoplasm;Nucleus NA 0 PE1 NX_O95125 74720 648 5.63 11 Nucleus NA 0 PE1 NX_O95136 38867 353 9.21 19 Nucleus speckle;Golgi apparatus;Cell membrane Deafness, autosomal recessive, 68 7 PE1 NX_O95139 15489 128 9.63 9 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 NX_O95140 86402 757 6.52 1 Mitochondrion outer membrane Neuropathy, hereditary motor and sensory, 6A;Charcot-Marie-Tooth disease 2A2A;Charcot-Marie-Tooth disease 2A2B 2 PE1 NX_O95147 22255 198 9.62 17 Cytosol;Nucleoplasm NA 0 PE1 NX_O95149 41143 360 6.17 15 Cytoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_O95150 28087 251 6.31 9 Cytosol;Membrane;Nucleus;Nucleus membrane;Secreted NA 1 PE1 NX_O95153 200051 1857 5.05 17 Mitochondrion;Cytoplasm NA 0 PE1 NX_O95154 37206 331 6.67 1 Cytoplasm NA 0 PE1 NX_O95155 146185 1302 6.13 1 Cytoplasm;Nucleus NA 0 PE1 NX_O95156 29938 264 8.95 2 Secreted NA 0 PE2 NX_O95157 28127 252 8.82 17 Secreted NA 0 PE1 NX_O95158 33065 308 9.89 12 Secreted NA 0 PE1 NX_O95159 34114 310 8.42 11 cis-Golgi network membrane;Golgi apparatus NA 1 PE1 NX_O95163 150254 1332 5.61 9 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Neuropathy, hereditary sensory and autonomic, 3 0 PE1 NX_O95164 13157 117 6.27 13 Cytoplasm;Nucleus;Centrosome;Cell membrane NA 0 PE1 NX_O95166 13918 117 8.73 17 Cytoplasmic vesicle;Cytoskeleton;Golgi apparatus membrane;Autophagosome;Endomembrane system NA 0 PE1 NX_O95167 9279 84 8.01 19 Mitochondrion inner membrane NA 1 PE1 NX_O95168 15209 129 9.85 3 Mitochondrion;Mitochondrion inner membrane;Nucleus membrane NA 1 PE1 NX_O95169 21766 186 6.29 10 Mitochondrion;Mitochondrion inner membrane;Endoplasmic reticulum NA 1 PE1 NX_O95170 85370 752 9.23 17 NA NA 0 PE2 NX_O95171 77552 688 9.42 13 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane;Membrane NA 0 PE1 NX_O95177 12619 125 8.04 16 NA NA 0 PE5 NX_O95178 12058 105 5.47 7 Mitochondrion inner membrane NA 0 PE1 NX_O95180 259163 2353 7.13 16 Cytoplasmic vesicle;Nucleoplasm;Cell membrane Hyperaldosteronism, familial, 4;Epilepsy, idiopathic generalized 6;Epilepsy, childhood absence 6 24 PE1 NX_O95182 12551 113 10.19 19 Mitochondrion;Cytoplasm;Mitochondrion inner membrane;Cell membrane NA 0 PE1 NX_O95183 12805 116 7.7 2 trans-Golgi network membrane;Cell membrane;Endomembrane system NA 1 PE1 NX_O95185 103146 931 5.74 4 Synaptosome;Cell membrane NA 1 PE1 NX_O95190 21011 189 5.21 15 Nucleus;Golgi apparatus NA 0 PE1 NX_O95196 60016 566 4.39 3 Endoplasmic reticulum membrane;Nucleoplasm;Cell membrane;Golgi apparatus membrane;Mitochondrion;Cell surface NA 1 PE1 NX_O95197 112611 1032 4.85 11 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum NA 0 PE1 NX_O95198 65975 593 6.3 4 Ruffle;Nucleoplasm;Cytoplasmic vesicle;Cytosol;Lamellipodium;Cytoskeleton;Cell projection NA 0 PE1 NX_O95199 60315 551 5.29 13 Nucleus;Acrosome;Golgi apparatus NA 0 PE1 NX_O95201 60630 554 8.88 16 Nucleoplasm;Nucleus NA 0 PE1 NX_O95202 83354 739 6.3 4 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 NX_O95206 113019 1070 5.35 13 Golgi apparatus;Cytosol;Cell membrane;Dendrite;Postsynaptic cell membrane;Presynaptic cell membrane NA 1 PE1 NX_O95208 68482 641 7.11 17 Cytoplasmic vesicle;Cytoplasm;Clathrin-coated vesicle NA 0 PE1 NX_O95210 39007 358 5.46 4 Cytosol;Endoplasmic reticulum membrane;Preautophagosomal structure membrane NA 1 PE1 NX_O95214 14428 131 5.55 8 Membrane NA 4 PE1 NX_O95218 37404 330 10.03 1 Nucleus NA 0 PE1 NX_O95219 51909 450 5.69 3 Early endosome membrane;Early endosome NA 0 PE1 NX_O95221 35132 314 8.9 11 Cell membrane NA 7 PE2 NX_O95222 36154 327 8.4 11 Cell membrane NA 7 PE2 NX_O95229 31293 277 5.1 10 Kinetochore;Nucleoplasm;Nucleus;Cytosol NA 0 PE1 NX_O95231 27552 258 9.74 10 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_O95232 51466 432 9.81 17 Nucleus speckle NA 0 PE1 NX_O95235 100278 890 6.49 5 Nucleoplasm;Spindle;Cytoskeleton;Golgi apparatus;Cleavage furrow NA 0 PE1 NX_O95236 44278 402 8.4 22 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 NX_O95237 25703 230 7.01 4 Endoplasmic reticulum membrane;Rough endoplasmic reticulum;Golgi apparatus;Endoplasmic reticulum;Perinuclear region;Multivesicular body Leber congenital amaurosis 14 1 PE1 NX_O95238 37518 335 5.89 6 Nucleolus;Nucleus NA 0 PE1 NX_O95239 139881 1232 5.99 X Spindle;Nucleus matrix;Midbody;Chromosome Mental retardation, X-linked 100 0 PE1 NX_O95243 66051 580 9.01 3 Nucleus speckle;Nucleus NA 0 PE1 NX_O95248 208443 1868 6.46 22 Nucleus Charcot-Marie-Tooth disease 4B3 0 PE1 NX_O95249 28613 250 9.46 17 Golgi apparatus membrane NA 1 PE1 NX_O95251 70642 611 9.01 17 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_O95255 164906 1503 8.82 16 Endoplasmic reticulum membrane;Basolateral cell membrane;Cell membrane Pseudoxanthoma elasticum;Arterial calcification of infancy, generalized, 2 17 PE1 NX_O95256 68310 599 8.67 2 Cell membrane NA 1 PE1 NX_O95257 17121 159 4.26 9 Nucleus NA 0 PE1 NX_O95258 36202 325 9.66 X Mitochondrion;Mitochondrion inner membrane NA 6 PE1 NX_O95259 111423 989 7.52 1 Cytoplasmic vesicle;Perikaryon;Early endosome membrane;Cell membrane;Axon;Dendrite;Presynaptic cell membrane;Postsynaptic density;Nucleus inner membrane Zimmermann-Laband syndrome 1;Temple-Baraitser syndrome 6 PE1 NX_O95260 59090 518 8.17 10 Cytoplasm;Nucleus NA 0 PE1 NX_O95263 98979 885 6.35 5 Nucleoplasm;Cytosol Primary pigmented nodular adrenocortical disease 3;Striatal degeneration, autosomal dominant 1 0 PE1 NX_O95264 50292 441 5.15 11 Cell membrane NA 4 PE1 NX_O95267 90402 797 8.2 15 Endoplasmic reticulum membrane;Cytosol;Golgi apparatus membrane;Cell membrane Systemic lupus erythematosus 0 PE1 NX_O95271 142039 1327 6.58 8 Nucleus membrane;Nucleoplasm;Cytoplasm;Nuclear pore complex;Telomere;Golgi apparatus membrane;Centromere;Spindle pole NA 0 PE1 NX_O95273 40262 360 4.71 15 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_O95274 35971 346 8.05 19 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane NA 0 PE1 NX_O95278 37158 331 6.19 6 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm Epilepsy, progressive myoclonic 2 0 PE1 NX_O95279 55130 499 6.3 6 Nucleus;Membrane NA 4 PE1 NX_O95292 27228 243 6.85 20 Endoplasmic reticulum membrane;Endoplasmic reticulum Amyotrophic lateral sclerosis 8;Spinal muscular atrophy, proximal, adult, autosomal dominant 1 PE1 NX_O95294 90016 804 6.09 12 Cytosol;Cell junction;Cell membrane NA 0 PE1 NX_O95295 14874 136 9.35 1 Synaptic vesicle membrane;Nucleolus;Golgi apparatus;Cytosol;Perinuclear region;Lysosome membrane;Golgi apparatus membrane;Membrane NA 0 PE1 NX_O95297 29082 269 8.85 1 Cytoplasmic vesicle;Cell membrane;Membrane NA 1 PE1 NX_O95298 14188 119 9.04 11 Cytoplasm;Mitochondrion inner membrane NA 1 PE1 NX_O95299 40751 355 8.67 2 Mitochondrion;Mitochondrion matrix Leigh syndrome 0 PE1 NX_O95302 63084 570 4.91 7 Endoplasmic reticulum NA 0 PE1 NX_O95319 54285 508 8.98 10 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_O95336 27547 258 5.7 19 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_O95340 69501 614 8.18 10 Mitochondrion Brachyolmia type 4 with mild epiphyseal and metaphyseal changes 0 PE1 NX_O95342 146407 1321 6.17 2 Cytosol;Nucleoplasm;Cell membrane;Membrane Cholestasis, benign recurrent intrahepatic, 2;Cholestasis, progressive familial intrahepatic, 2 12 PE1 NX_O95343 35487 332 8.95 2 Nucleoplasm;Nucleus Schizencephaly;Holoprosencephaly 2 0 PE1 NX_O95347 135656 1197 8.54 9 Cytoplasm;Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_O95352 77960 703 5.85 3 Nucleoplasm;Cytoplasm;Preautophagosomal structure;Cytosol;Cell membrane NA 0 PE1 NX_O95359 309427 2948 4.71 10 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Centrosome NA 0 PE1 NX_O95361 63955 564 5.34 17 Cytoplasm NA 0 PE1 NX_O95363 52357 451 6.99 6 Mitochondrion;Mitochondrion matrix;Cell membrane Combined oxidative phosphorylation deficiency 14;Spastic paraplegia 77, autosomal recessive 0 PE1 NX_O95365 61439 584 4.98 19 Nucleoplasm;Nucleus NA 0 PE1 NX_O95371 34412 312 8.96 16 Cell membrane NA 7 PE2 NX_O95372 24737 231 6.74 1 Cytoplasm NA 0 PE1 NX_O95373 119517 1038 4.7 11 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_O95376 57819 493 5.4 3 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_O95377 31088 273 8.53 1 Gap junction;Cell membrane NA 4 PE1 NX_O95379 23003 198 7.75 5 Nucleoplasm;Cytoplasm NA 0 PE1 NX_O95382 142596 1288 6.7 1 Cytosol;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 NX_O95388 40331 367 6.84 8 Cytosol;Secreted NA 0 PE1 NX_O95389 39293 354 8.87 6 Endoplasmic reticulum;Secreted Progressive pseudorheumatoid arthropathy of childhood 0 PE1 NX_O95390 45091 407 8.18 12 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_O95391 68387 586 6.69 5 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_O95393 48047 424 4.89 2 Secreted NA 0 PE1 NX_O95394 59852 542 5.84 6 Nucleoplasm;Cytosol Immunodeficiency 23 0 PE1 NX_O95395 50864 438 8.53 15 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_O95396 49669 460 5.85 20 Cytoplasm NA 0 PE1 NX_O95397 43539 391 5.03 12 NA NA 0 PE5 NX_O95398 103751 923 7.28 12 Cytosol;Endomembrane system NA 0 PE1 NX_O95399 14296 124 7.67 1 Secreted NA 0 PE1 NX_O95400 37646 341 4.49 16 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_O95402 65446 600 9.27 19 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytosol NA 0 PE1 NX_O95405 156403 1425 4.89 1 Cytoplasmic vesicle;Cytoplasm;Early endosome membrane;Cytosol NA 0 PE1 NX_O95406 16699 144 5.39 14 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus membrane NA 3 PE1 NX_O95407 32680 300 8.68 20 Secreted NA 0 PE1 NX_O95409 55006 532 8.68 13 Cytoplasm;Nucleus Holoprosencephaly 5 0 PE1 NX_O95411 12414 115 8.35 17 Nucleus NA 0 PE2 NX_O95415 13645 125 8.69 7 Lysosome membrane NA 2 PE1 NX_O95416 26485 240 9.68 3 Nucleus NA 0 PE1 NX_O95424 10429 95 3.61 16 Cytosol;Cytoplasm;Nucleus speckle NA 0 PE2 NX_O95425 247746 2214 6.55 10 Cleavage furrow;Cytosol;Cell membrane;Midbody;Cytoskeleton;Podosome;Invadopodium NA 0 PE1 NX_O95427 105810 931 8.82 18 Endoplasmic reticulum membrane;Cytosol;Cell membrane Multiple congenital anomalies-hypotonia-seizures syndrome 1 15 PE1 NX_O95428 137700 1278 6.45 14 Nucleoplasm;Secreted NA 0 PE1 NX_O95429 49594 457 5.02 8 Cytoplasm NA 0 PE1 NX_O95433 38274 338 5.41 14 Cytosol;Endoplasmic reticulum NA 0 PE1 NX_O95436 75759 690 8.54 4 Membrane Pulmonary alveolar microlithiasis 8 PE1 NX_O95445 21253 188 5.66 6 Cell membrane;Golgi apparatus;Secreted NA 0 PE1 NX_O95447 76505 670 9.51 21 Cytosol;Nucleoplasm NA 0 PE1 NX_O95450 134755 1211 6.76 5 Cytoplasmic vesicle;Cell membrane;Extracellular matrix Ehlers-Danlos syndrome, dermatosparaxis type 0 PE1 NX_O95452 30387 261 8.81 13 Gap junction;Cell junction;Cell membrane Ectodermal dysplasia 2, Clouston type;Deafness, autosomal recessive, 1B;Deafness, autosomal dominant, 3B 4 PE1 NX_O95453 73451 639 5.86 16 Cytoplasm;Nucleolus;Nucleus;Nucleus speckle Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 4;Dyskeratosis congenita, autosomal recessive, 6 0 PE1 NX_O95455 40214 350 6.15 13 Cytoskeleton;Nucleolus;Nucleus;Cleavage furrow Catel-Manzke syndrome 0 PE1 NX_O95456 32854 288 6.88 21 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus;Endoplasmic reticulum NA 0 PE1 NX_O95460 68487 622 5.73 20 Secreted NA 0 PE1 NX_O95461 88066 756 7.89 22 Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 1 PE1 NX_O95466 121854 1100 5.56 17 Cytosol;Cytoplasm;Cell cortex;Phagosome;Cell membrane;Bleb NA 0 PE1 NX_O95467 28029 245 5.37 20 Secretory vesicle;Secreted Pseudohypoparathyroidism 1B;ACTH-independent macronodular adrenal hyperplasia 1;GNAS hyperfunction 0 PE1 NX_O95470 63524 568 9.24 10 Endoplasmic reticulum membrane;Endoplasmic reticulum Nephrotic syndrome 14 1 PE1 NX_O95471 22418 211 8.91 17 Cytoplasmic vesicle;Tight junction;Basolateral cell membrane;Cell junction;Cell membrane NA 4 PE1 NX_O95473 25820 234 7.64 19 Golgi apparatus;Membrane NA 4 PE1 NX_O95475 27687 246 9.49 14 Nucleoplasm;Nucleus Optic disk anomalies with retinal and/or macular dystrophy 0 PE1 NX_O95476 28377 244 9.78 17 Endoplasmic reticulum membrane;Lipid droplet;Nucleus membrane NA 1 PE1 NX_O95477 254302 2261 6.43 9 Nucleoplasm;Cytoplasmic vesicle;Membrane High density lipoprotein deficiency 2;High density lipoprotein deficiency 1 15 PE1 NX_O95478 30065 260 10.28 5 Nucleolus;Nucleus NA 0 PE1 NX_O95479 88893 791 6.84 1 Cytosol;Endoplasmic reticulum lumen Cortisone reductase deficiency 1 0 PE1 NX_O95484 22848 217 6.54 16 Cytoplasmic vesicle;Cell membrane;Cell junction;Tight junction NA 4 PE1 NX_O95486 119749 1093 7.58 5 Cytoplasmic vesicle;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Nucleolus;Cytosol NA 0 PE1 NX_O95487 137418 1268 6.19 4 Cytoplasmic vesicle;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Nucleus;Cytosol NA 0 PE1 NX_O95490 163349 1459 6.02 1 Cell junction;Cell membrane;Membrane NA 7 PE1 NX_O95497 57012 513 5.32 6 Cell membrane NA 0 PE1 NX_O95498 58503 520 6.07 6 Cell membrane NA 0 PE1 NX_O95500 25699 239 8.94 21 Cytoplasmic vesicle;Cell membrane;Tight junction Deafness, autosomal recessive, 29 4 PE1 NX_O95502 52846 500 5.82 22 Nucleoplasm;Cytosol;Cell membrane;Membrane NA 1 PE1 NX_O95503 43898 412 10.02 22 Mitochondrion;Nucleus;Chromosome NA 0 PE1 NX_O95521 55149 474 8.88 1 NA NA 0 PE2 NX_O95522 54633 483 6.11 1 Nucleoplasm NA 0 PE3 NX_O95528 56911 541 8.9 20 Nucleoplasm;Cytoplasmic vesicle;Perinuclear region;Endomembrane system Arterial tortuosity syndrome 12 PE1 NX_O95544 49228 446 6.03 1 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 NX_O95551 40930 362 5.02 6 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;PML body Spinocerebellar ataxia, autosomal recessive, 23 0 PE1 NX_O95561 21209 183 9.86 1 NA NA 0 PE1 NX_O95562 17779 160 9.34 1 Membrane NA 4 PE1 NX_O95563 14279 127 10.44 1 Mitochondrion;Mitochondrion inner membrane NA 3 PE1 NX_O95567 32655 290 10.06 22 NA NA 0 PE2 NX_O95568 42148 372 6.29 1 Nucleoplasm;Cytosol NA 0 PE1 NX_O95571 27873 254 6.35 19 Mitochondrion matrix;Cytoplasm;Mitochondrion;Nucleus Ethylmalonic encephalopathy 0 PE1 NX_O95573 80420 720 8.65 2 Endoplasmic reticulum membrane;Microsome membrane;Peroxisome membrane;Lipid droplet;Mitochondrion outer membrane;Nucleolus NA 1 PE1 NX_O95600 39314 359 7.19 X Nucleoplasm;Nucleus NA 0 PE1 NX_O95602 194811 1720 6.61 2 Nucleolus;Nucleus Acrofacial dysostosis, Cincinnati type 0 PE1 NX_O95613 378037 3336 5.4 21 Centrosome Microcephalic osteodysplastic primordial dwarfism 2 0 PE1 NX_O95619 26499 227 8.4 12 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_O95620 35816 317 7.04 7 Cytosol NA 0 PE1 NX_O95622 138908 1261 6.9 3 Cytoskeleton;Cilium;Cell membrane Dyskinesia, familial, with facial myokymia 12 PE1 NX_O95625 119384 1053 8.93 3 Nucleoplasm;Nucleus NA 0 PE1 NX_O95626 14806 131 4.98 12 NA NA 0 PE2 NX_O95628 63510 575 6.58 7 Cytoplasm;Nucleus NA 0 PE1 NX_O95630 48077 424 5.89 2 Cytosol;Cytoplasm;Membrane;Cell membrane;Nucleoplasm;Nucleus;Early endosome Microcephaly-capillary malformation syndrome 0 PE1 NX_O95631 67748 604 9.1 17 Extracellular matrix NA 0 PE1 NX_O95633 27663 263 6.37 19 Nucleoplasm;Nucleus;Secreted NA 0 PE1 NX_O95639 30255 269 8.68 7 Nucleoplasm;Nucleus NA 0 PE1 NX_O95644 101243 943 6.52 18 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_O95661 25861 229 9.46 1 Cytosol;Cell membrane;Nucleus membrane NA 0 PE1 NX_O95665 45385 410 9.5 2 Cell membrane NA 7 PE1 NX_O95670 13604 118 10.26 6 Melanosome NA 0 PE1 NX_O95671 68857 621 5.71 X Cytosol NA 0 PE1 NX_O95672 87791 775 6.58 2 Nucleoplasm;Nucleolus;Nucleus membrane;Membrane Arthrogryposis, distal, 5D 1 PE1 NX_O95674 51418 445 6.64 20 Cytosol;Mitochondrion inner membrane;Endoplasmic reticulum NA 6 PE1 NX_O95677 69505 639 5.04 6 Nucleoplasm;Cytoplasm;Nucleus Cardiomyopathy, dilated 1J;Deafness, autosomal dominant, 10 0 PE1 NX_O95678 59560 551 7.6 12 Cytosol;Cell membrane Loose anagen hair syndrome 0 PE1 NX_O95684 43065 399 4.67 6 Centriole;Centrosome;Cilium basal body NA 0 PE1 NX_O95685 32559 299 8.44 20 Mitochondrion;Cytoplasmic vesicle;Nucleolus NA 0 PE1 NX_O95696 119520 1058 8.91 22 Nucleus speckle;Nucleus NA 0 PE1 NX_O95704 52585 486 5.97 5 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_O95707 25425 220 10.08 19 Nucleolus NA 0 PE1 NX_O95711 17906 162 5.83 6 Extracellular space NA 0 PE1 NX_O95714 527228 4834 5.88 15 Centriole;Cytoplasmic vesicle;Nucleus;Cytoplasm Mental retardation, autosomal recessive 38 0 PE1 NX_O95715 13078 111 10.1 5 Golgi apparatus;Secreted NA 0 PE1 NX_O95716 24267 219 4.76 19 Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_O95718 48054 433 8.09 14 Cytoplasm;Nucleus;Chromosome Deafness, autosomal recessive, 35 0 PE1 NX_O95721 28970 258 5.56 22 Autophagosome membrane;Cytosol;Nucleoplasm;Cytoplasm;Cilium membrane;Golgi apparatus membrane Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 0 PE1 NX_O95727 44641 393 6.37 11 Membrane NA 1 PE1 NX_O95741 61991 557 5.32 14 Endosome;Perikaryon;Cytoplasm;Cell membrane;Dendrite;Clathrin-coated vesicle NA 0 PE1 NX_O95744 32669 297 9.52 7 NA NA 0 PE5 NX_O95747 58022 527 6.03 3 Cytosol;Cytoplasm NA 0 PE1 NX_O95749 34871 300 5.78 1 Cytoplasm NA 0 PE1 NX_O95750 24003 216 6.55 11 Secreted NA 0 PE1 NX_O95751 16968 146 4.11 X Nucleolus;Nucleus NA 0 PE1 NX_O95754 83511 770 6.5 2 Cell membrane;Nucleus;Centrosome;Endoplasmic reticulum;Membrane NA 1 PE1 NX_O95755 36322 333 8.05 22 Cytoplasmic vesicle;Golgi apparatus membrane NA 0 PE1 NX_O95757 94512 839 5.63 4 Cytosol;Cytoplasm;Nucleus;Centrosome NA 0 PE1 NX_O95758 59690 552 9.13 9 Nucleus NA 0 PE1 NX_O95759 130835 1140 5.32 2 Nucleus NA 0 PE1 NX_O95760 30759 270 8.89 9 Secretory vesicle;Nucleus;Chromosome;Secreted NA 0 PE1 NX_O95772 26655 234 4.75 7 Cytoplasmic vesicle;Late endosome membrane NA 4 PE1 NX_O95777 10403 96 4.34 7 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_O95780 58361 498 9.22 19 Nucleus;Golgi apparatus NA 0 PE1 NX_O95782 107546 977 6.63 19 Cytoplasmic vesicle;Coated pit;Cell membrane NA 0 PE1 NX_O95785 178674 1651 6.4 19 Nucleoplasm;Nucleus;Midbody NA 0 PE1 NX_O95786 106600 925 6.03 9 Cytosol;Cytoplasm;Cytoskeleton;Ruffle membrane;Tight junction Singleton-Merten syndrome 2 0 PE1 NX_O95789 148089 1325 8.59 1 Nucleoplasm;Nucleus NA 0 PE1 NX_O95793 63182 577 9.46 20 Cytosol;Cytoplasm;Rough endoplasmic reticulum NA 0 PE1 NX_O95800 59359 540 9.28 2 Cell membrane NA 7 PE1 NX_O95801 44679 387 5.43 1 NA NA 0 PE1 NX_O95803 100902 873 8.21 4 Golgi apparatus membrane NA 1 PE2 NX_O95807 17400 157 5.57 1 Cytosol;Cytoskeleton;Cell membrane;Endoplasmic reticulum;Membrane NA 4 PE1 NX_O95810 47173 425 5.14 2 Cytosol;Caveola;Cell membrane NA 0 PE1 NX_O95813 30084 267 7.7 9 Secreted NA 0 PE1 NX_O95816 23772 211 6.25 6 Nucleoplasm;Cytoplasm NA 0 PE1 NX_O95817 61595 575 6.46 10 Cytosol;Cytoplasm;Nucleus;Cell membrane Cardiomyopathy, dilated 1HH;Myopathy, myofibrillar, 6 0 PE1 NX_O95819 142101 1239 7.09 2 Cytoplasm NA 0 PE1 NX_O95822 55003 493 9.11 16 Mitochondrion matrix;Cytoplasm;Peroxisome matrix;Peroxisome Malonyl-CoA decarboxylase deficiency 0 PE1 NX_O95825 38697 349 5.49 21 Cytosol;Nucleoplasm NA 0 PE1 NX_O95831 66901 613 9.04 X Cytoplasm;Perinuclear region;Nucleus;Mitochondrion inner membrane;Mitochondrion intermembrane space Cowchock syndrome;Deafness, X-linked, 5;Combined oxidative phosphorylation deficiency 6 0 PE1 NX_O95832 22744 211 8.41 3 Basolateral cell membrane;Tight junction;Cell membrane Ichthyosis-sclerosing cholangitis neonatal syndrome 4 PE1 NX_O95833 26648 236 5.99 9 Cytoplasm;Nucleus;Membrane NA 1 PE1 NX_O95834 70679 649 5.86 19 Cytoplasmic vesicle;Cytoskeleton;Spindle NA 0 PE1 NX_O95835 126870 1130 8.84 6 Cytoplasmic vesicle;Nucleoplasm;Centrosome NA 0 PE1 NX_O95837 41571 355 5.81 9 NA NA 0 PE1 NX_O95838 63001 553 9.1 17 Cell membrane NA 7 PE2 NX_O95841 56720 491 8.42 1 Secreted NA 0 PE1 NX_O95843 23822 209 4.95 3 Focal adhesion NA 0 PE1 NX_O95847 36064 323 9.15 6 Mitochondrion;Mitochondrion inner membrane NA 6 PE1 NX_O95848 24118 222 4.95 14 Cytoplasm;Cytoskeleton;Nucleolus NA 0 PE1 NX_O95857 22147 204 8.27 7 Nucleus;Membrane NA 4 PE1 NX_O95858 33165 294 5.3 10 Nucleoplasm;Cytosol;Late endosome membrane;Cell membrane NA 4 PE1 NX_O95859 35383 305 5.72 7 Cytoplasmic vesicle;Cytoskeleton;Cell membrane Vitreoretinopathy, exudative 5 4 PE1 NX_O95861 33392 308 5.46 1 Nucleus speckle NA 0 PE1 NX_O95863 29083 264 8.97 20 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_O95864 52259 444 8.86 11 Endoplasmic reticulum membrane NA 4 PE1 NX_O95865 29644 285 5.66 6 Mitochondrion;Cytoplasm;Cytosol;Microtubule organizing center NA 0 PE1 NX_O95866 26163 241 9.68 6 Cell membrane;Endoplasmic reticulum;Golgi apparatus Thrombocytopenia, anemia, and myelofibrosis 1 PE1 NX_O95867 13821 125 8.53 6 Cell membrane NA 0 PE1 NX_O95868 13691 133 6.56 6 Filopodium;Cell membrane NA 0 PE1 NX_O95870 63243 558 8.39 6 Membrane NA 2 PE1 NX_O95872 39314 356 8.36 6 Endoplasmic reticulum NA 0 PE1 NX_O95873 31710 294 5.95 6 Cytosol NA 0 PE1 NX_O95876 85084 746 5.97 2 Cell junction;Cilium axoneme;Cell membrane;Cilium basal body Congenital heart defects, hamartomas of tongue, and polysyndactyly;Bardet-Biedl syndrome 15 0 PE1 NX_O95881 19206 172 5.25 1 Endoplasmic reticulum lumen NA 0 PE1 NX_O95886 106040 979 8.99 1 Postsynaptic density;Synapse;Cell membrane NA 0 PE1 NX_O95897 51386 454 8.06 19 Synapse;Secreted;Nucleoplasm;Cytoplasm;Nucleus;Membrane NA 0 PE1 NX_O95900 36694 331 9.12 9 Cytosol;Mitochondrion matrix NA 0 PE1 NX_O95905 72758 644 4.75 10 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_O95907 52319 504 5.53 22 Cytoskeleton;Focal adhesion;Cell membrane NA 12 PE1 NX_O95918 34763 312 8.51 6 Cell membrane NA 7 PE2 NX_O95922 48988 423 8.87 22 Mitochondrion;Cytoskeleton;Nucleolus NA 0 PE1 NX_O95925 15284 133 8.52 20 Cell surface;Secreted NA 0 PE1 NX_O95926 28722 243 8.38 1 Nucleus speckle;Nucleus NA 0 PE1 NX_O95931 28341 251 9.46 22 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_O95932 79312 706 6.85 20 Cytoplasm Spinocerebellar ataxia 35 0 PE1 NX_O95935 64753 607 8.98 6 Nucleus Congenital anomalies of kidney and urinary tract 2 0 PE1 NX_O95936 72732 686 6.94 3 Nucleus NA 0 PE1 NX_O95944 30677 276 8.15 6 Cell membrane NA 1 PE1 NX_O95947 47045 436 8.16 16 Nucleus Spondylocostal dysostosis 5 0 PE1 NX_O95948 54303 504 9.65 18 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_O95954 58927 541 5.58 21 Centriole;Cytosol;Cell membrane;Golgi apparatus Glutamate formiminotransferase deficiency 0 PE1 NX_O95965 53921 494 5.39 13 Secreted NA 0 PE1 NX_O95967 49405 443 4.79 11 Secreted Cutis laxa, autosomal recessive, 1B 0 PE1 NX_O95968 9898 90 9.41 11 Secreted NA 0 PE1 NX_O95969 9925 90 8.58 11 Secreted NA 0 PE1 NX_O95970 63818 557 8.5 10 Synapse;Secreted Epilepsy, familial temporal lobe, 1 0 PE1 NX_O95971 19810 181 6.94 1 Cell membrane NA 0 PE1 NX_O95972 45055 392 9.28 X Secreted Premature ovarian failure 4;Ovarian dysgenesis 2 0 PE1 NX_O95976 27013 241 8.93 16 Membrane NA 1 PE1 NX_O95977 41623 384 10.04 19 Mitochondrion;Cell membrane NA 7 PE1 NX_O95980 106457 971 6.35 9 Cell membrane NA 0 PE1 NX_O95983 32844 291 5.22 19 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_O95985 96662 862 8.47 22 Cytoplasmic vesicle NA 0 PE1 NX_O95988 14846 128 6.84 14 Cytosol NA 0 PE1 NX_O95989 19471 172 5.99 6 Cytoplasm NA 0 PE1 NX_O95990 17455 144 9.71 3 Nucleus speckle;Synapse;Stress fiber;Focal adhesion;Nucleus;Ruffle membrane NA 0 PE1 NX_O95992 31745 272 6.77 10 Endoplasmic reticulum membrane NA 3 PE1 NX_O95994 19979 175 9.03 7 Cytosol;Endoplasmic reticulum;Secreted NA 0 PE1 NX_O95995 56356 478 7.72 16 Flagellum axoneme;Flagellum;Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Cilium axoneme;Cytoskeleton;Cilium;Cilium basal body Ciliary dyskinesia, primary, 33 0 PE1 NX_O95996 243949 2303 9.08 19 Golgi apparatus;Cytosol;Cytoplasm;Perinuclear region;Cytoskeleton;Midbody Sotos syndrome 3 0 PE1 NX_O95997 22024 202 6.18 5 Cytoplasm;Nucleus NA 0 PE1 NX_O95998 21099 194 6.99 11 Endoplasmic reticulum;Secreted NA 0 PE1 NX_O95999 26252 233 5.57 1 Nucleoplasm;Perinuclear region;Membrane raft Lymphoma, mucosa-associated lymphoid type;Immunodeficiency 37 0 PE1 NX_O96000 20777 172 8.72 16 Mitochondrion inner membrane NA 0 PE1 NX_O96001 17866 155 8.48 7 Nucleoplasm NA 0 PE1 NX_O96002 13452 111 9.61 X Membrane NA 2 PE5 NX_O96004 23627 215 9.69 5 Nucleoplasm;Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 NX_O96005 76097 669 5.88 19 Nucleus membrane;Golgi apparatus;Cell membrane;Microtubule organizing center;Endoplasmic reticulum;Membrane NA 5 PE1 NX_O96006 78156 694 5.79 X Nucleus NA 0 PE1 NX_O96007 20944 188 5.35 5 Cytosol;Nucleus Molybdenum cofactor deficiency, complementation group B 0 PE1 NX_O96008 37893 361 6.79 19 Mitochondrion;Cytosol;Mitochondrion outer membrane NA 0 PE1 NX_O96009 45387 420 6.15 19 Secreted NA 0 PE1 NX_O96011 28431 259 9.91 1 Peroxisome membrane Peroxisome biogenesis disorder 14B 1 PE1 NX_O96013 64072 591 9.76 19 Cytoplasm;Cell junction;Cell membrane NA 0 PE1 NX_O96014 39179 354 9.05 11 Cytosol;Centrosome;Extracellular matrix NA 0 PE1 NX_O96015 12009 105 5.36 22 Cytosol;Nucleolus;Nucleus;Centrosome;Cilium axoneme Mirror movements 3 0 PE1 NX_O96017 60915 543 5.65 22 Nucleoplasm;PML body;Nucleus;Golgi apparatus Osteogenic sarcoma;Prostate cancer;Breast cancer;Li-Fraumeni syndrome 2 0 PE1 NX_O96018 61454 575 4.83 19 Cytoplasmic vesicle;Perinuclear region NA 0 PE1 NX_O96019 47461 429 5.39 3 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_O96020 46757 404 7.95 8 Nucleus NA 0 PE1 NX_O96024 41537 378 8.63 6 Golgi apparatus membrane NA 1 PE1 NX_O96028 152258 1365 9 4 Cytoplasm;Nucleus;Chromosome NA 0 PE1 NX_O96033 9755 88 4.67 5 Cytosol Molybdenum cofactor deficiency, complementation group B 0 PE1 NX_O97980 4965 41 4.95 5 NA NA 0 PE1 NX_P00156 42718 380 7.83 MT Mitochondrion;Mitochondrion inner membrane Cardiomyopathy, infantile histiocytoid;Leber hereditary optic neuropathy 8 PE1 NX_P00167 15330 134 4.88 18 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cytoplasm;Cytosol;Microsome membrane Methemoglobinemia and ambiguous genitalia 1 PE1 NX_P00325 39855 375 8.63 4 Cytoplasm NA 0 PE1 NX_P00326 39868 375 8.63 4 Cytoplasm NA 0 PE1 NX_P00338 36689 332 8.44 11 Cytosol;Cytoplasm;Cytoplasmic vesicle Glycogen storage disease 11 0 PE1 NX_P00352 54862 501 6.3 9 Cytosol NA 0 PE1 NX_P00367 61398 558 7.66 10 Mitochondrion matrix Familial hyperinsulinemic hypoglycemia 6 0 PE1 NX_P00374 21453 187 6.85 5 Mitochondrion;Cytoplasm Megaloblastic anemia due to dihydrofolate reductase deficiency 0 PE1 NX_P00387 34235 301 7.18 22 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum;Mitochondrion outer membrane Methemoglobinemia CYB5R3-related 0 PE1 NX_P00390 56257 522 8.74 8 Mitochondrion;Cytoplasm;Cytosol;Cell membrane NA 0 PE1 NX_P00395 57041 513 6.19 MT Mitochondrion;Mitochondrion inner membrane Leber hereditary optic neuropathy;Deafness, sensorineural, mitochondrial;Colorectal cancer;Mitochondrial complex IV deficiency;Recurrent myoglobinuria mitochondrial 12 PE1 NX_P00403 25565 227 4.67 MT Mitochondrion inner membrane Mitochondrial complex IV deficiency 2 PE1 NX_P00414 29951 261 6.78 MT Nucleoplasm;Mitochondrion inner membrane Leber hereditary optic neuropathy;Mitochondrial complex IV deficiency;Recurrent myoglobinuria mitochondrial 7 PE1 NX_P00439 51862 452 6.15 12 Cytoplasmic vesicle;Endoplasmic reticulum Phenylketonuria;Non-phenylketonuria hyperphenylalaninemia;Hyperphenylalaninemia 0 PE1 NX_P00441 15936 154 5.7 21 Mitochondrion;Cytoplasm;Nucleus;Cytosol;Cell membrane Amyotrophic lateral sclerosis 1 0 PE1 NX_P00450 122205 1065 5.44 3 Secreted Aceruloplasminemia 0 PE1 NX_P00451 267009 2351 6.95 X Extracellular space Hemophilia A 0 PE1 NX_P00480 39935 354 8.75 X Mitochondrion matrix;Mitochondrion Ornithine carbamoyltransferase deficiency 0 PE1 NX_P00488 83267 732 5.75 6 Cytoplasm;Secreted Factor XIII subunit A deficiency 0 PE1 NX_P00491 32118 289 6.45 14 Cytosol;Cytoplasm;Cytoskeleton Purine nucleoside phosphorylase deficiency 0 PE1 NX_P00492 24579 218 6.21 X Cytosol;Cytoplasm;Nucleus Gout HPRT-related;Lesch-Nyhan syndrome 0 PE1 NX_P00505 47518 430 9.14 16 Mitochondrion matrix;Cell membrane NA 0 PE1 NX_P00519 122873 1130 8.84 9 Nucleoplasm;Mitochondrion;Cytoskeleton;Nucleus;Nucleus membrane Leukemia, chronic myeloid;Congenital heart defects and skeletal malformations syndrome 0 PE1 NX_P00533 134277 1210 6.26 7 Endoplasmic reticulum membrane;Endosome;Nucleus membrane;Secreted;Cell membrane;Endosome membrane;Golgi apparatus membrane;Nucleus Lung cancer;Inflammatory skin and bowel disease, neonatal, 2 1 PE1 NX_P00540 37820 346 9.15 8 NA NA 0 PE1 NX_P00558 44615 417 8.3 X Cytoplasm Phosphoglycerate kinase 1 deficiency 0 PE1 NX_P00568 21635 194 8.73 9 Cytosol;Cytoplasm Hemolytic anemia due to adenylate kinase deficiency 0 PE1 NX_P00709 16225 142 4.83 12 Secreted NA 0 PE1 NX_P00734 70037 622 5.64 11 Extracellular space Factor II deficiency;Ischemic stroke;Pregnancy loss, recurrent, 2;Thrombophilia due to thrombin defect 0 PE1 NX_P00736 80119 705 5.82 12 Nucleoplasm;Cytosol;Secreted Ehlers-Danlos syndrome, periodontal type, 1 0 PE1 NX_P00738 45205 406 6.13 16 Secreted Anhaptoglobinemia 0 PE1 NX_P00739 39030 348 6.63 16 Secreted NA 0 PE1 NX_P00740 51778 461 5.34 X Secreted Thrombophilia, X-linked, due to factor IX defect;Hemophilia B 0 PE1 NX_P00742 54732 488 5.68 13 Secreted Factor X deficiency 0 PE1 NX_P00746 27033 253 7.65 19 Cell membrane;Secreted Complement factor D deficiency 0 PE1 NX_P00747 90569 810 7.04 6 Secreted Plasminogen deficiency 0 PE1 NX_P00748 67792 615 8.04 5 Secreted Factor XII deficiency;Hereditary angioedema 3 0 PE1 NX_P00749 48507 431 8.78 10 Secreted Quebec platelet disorder 0 PE1 NX_P00750 62917 562 8.14 8 Extracellular space;Cytoskeleton NA 0 PE1 NX_P00751 85533 764 6.67 6 Cytoplasmic vesicle;Cell junction;Endoplasmic reticulum;Secreted Hemolytic uremic syndrome atypical 4;Complement factor B deficiency 0 PE1 NX_P00797 45057 406 6.61 1 Secreted;Membrane Renal tubular dysgenesis;Familial juvenile hyperuricemic nephropathy 2 0 PE1 NX_P00813 40764 363 5.63 20 Cytoplasmic vesicle lumen;Lysosome;Cytosol;Cytoplasm;Cell membrane;Cell junction Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency 0 PE1 NX_P00846 24817 226 10.09 MT Mitochondrion inner membrane Ataxia and polyneuropathy, adult-onset;Leber hereditary optic neuropathy;Myopathy, lactic acidosis, and sideroblastic anemia 3;Mitochondrial complex V deficiency, mitochondrial 1;Mitochondrial infantile bilateral striatal necrosis;Leigh syndrome;Neuropathy, ataxia, and retinitis pigmentosa;Cardiomyopathy, infantile hypertrophic 6 PE1 NX_P00915 28870 261 6.59 8 Cytoplasm NA 0 PE1 NX_P00918 29246 260 6.87 8 Cytoplasm;Cell membrane Osteopetrosis, autosomal recessive 3 0 PE1 NX_P00966 46530 412 8.08 9 Nucleoplasm;Cytosol Citrullinemia 1 0 PE1 NX_P00973 46029 400 8.51 12 Secreted;Cytosol;Cytoplasm;Microsome;Endoplasmic reticulum;Nucleus;Mitochondrion NA 0 PE1 NX_P00995 8507 79 7.54 5 Secreted Pancreatitis, hereditary;Tropical calcific pancreatitis 0 PE1 NX_P01008 52602 464 6.32 1 Extracellular space Antithrombin III deficiency 0 PE1 NX_P01009 46737 418 5.37 14 Cytoplasmic vesicle;Extracellular matrix;Endoplasmic reticulum;Secreted Alpha-1-antitrypsin deficiency 0 PE1 NX_P01011 47651 423 5.33 14 Secreted NA 0 PE1 NX_P01019 53154 485 5.87 1 Secreted Essential hypertension;Renal tubular dysgenesis 0 PE1 NX_P01023 163291 1474 6.03 12 Secreted NA 0 PE1 NX_P01024 187148 1663 6.02 19 Secreted Macular degeneration, age-related, 9;Complement component 3 deficiency;Hemolytic uremic syndrome atypical 5 0 PE1 NX_P01031 188305 1676 6.11 9 Secreted Complement component 5 deficiency 0 PE1 NX_P01033 23171 207 8.46 X Golgi apparatus;Secreted NA 0 PE1 NX_P01034 15799 146 9 20 Cytoplasmic vesicle;Golgi apparatus;Secreted Amyloidosis 6;Macular degeneration, age-related, 11 0 PE1 NX_P01036 16214 141 4.95 20 Secreted NA 0 PE1 NX_P01037 16388 141 6.73 20 Secreted NA 0 PE1 NX_P01040 11006 98 5.38 3 Cytosol;Cytoplasm;Nucleus Peeling skin syndrome 4 0 PE1 NX_P01042 71957 644 6.34 3 Extracellular space High molecular weight kininogen deficiency 0 PE1 NX_P01100 40695 380 4.77 14 Cytosol;Nucleoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_P01106 48804 439 5.33 8 Nucleoplasm;Nucleolus Burkitt lymphoma 0 PE1 NX_P01111 21229 189 5.01 1 Golgi apparatus membrane;Cell membrane RAS-associated autoimmune leukoproliferative disorder;Keratinocytic non-epidermolytic nevus;Melanocytic nevus syndrome, congenital;Noonan syndrome 6;Leukemia, juvenile myelomonocytic;Thyroid cancer, non-medullary, 2;Melanosis, neurocutaneous 0 PE1 NX_P01112 21298 189 5.16 11 Golgi apparatus;Cytoplasm;Cell membrane;Perinuclear region;Golgi apparatus membrane;Nucleus Bladder cancer;Thyroid cancer, non-medullary, 2;Schimmelpenning-Feuerstein-Mims syndrome;Congenital myopathy with excess of muscle spindles;Costello syndrome 0 PE1 NX_P01116 21656 189 6.33 12 Cytosol;Cell membrane Leukemia, acute myelogenous;Cardiofaciocutaneous syndrome 2;Leukemia, juvenile myelomonocytic;Noonan syndrome 3;Gastric cancer 0 PE1 NX_P01127 27283 241 9.39 22 Cytoplasmic vesicle;Secreted Basal ganglia calcification, idiopathic, 5 0 PE1 NX_P01130 95376 860 4.86 19 Late endosome;Golgi apparatus;Lysosome;Clathrin-coated pit;Cell membrane;Early endosome Familial hypercholesterolemia 1 PE1 NX_P01133 133994 1207 5.53 4 Membrane Hypomagnesemia 4 1 PE1 NX_P01135 17006 160 7.51 2 Cytoplasmic vesicle;Extracellular space;Cell membrane NA 1 PE1 NX_P01137 44341 390 8.83 19 Cytosol;Extracellular matrix;Secreted Camurati-Engelmann disease 0 PE1 NX_P01138 26959 241 9.94 1 Secreted Neuropathy, hereditary sensory and autonomic, 5 0 PE1 NX_P01148 10380 92 6.1 8 Secreted Hypogonadotropic hypogonadism 12 with or without anosmia 0 PE1 NX_P01160 16708 153 6.59 1 Secreted Atrial fibrillation, familial, 6;Atrial standstill 2 0 PE1 NX_P01178 12722 125 5.72 20 Secreted NA 0 PE1 NX_P01185 17325 164 5.2 20 Secreted Diabetes insipidus, neurohypophyseal 0 PE1 NX_P01189 29424 267 7.57 2 Secreted Obesity;Obesity, early-onset, with adrenal insufficiency and red hair 0 PE1 NX_P01210 30787 267 5.44 8 Secreted NA 0 PE1 NX_P01213 28385 254 6.07 20 Secreted Spinocerebellar ataxia 23 0 PE1 NX_P01215 13075 116 8.54 6 Secreted NA 0 PE1 NX_P01222 15639 138 7.92 1 Secreted NA 0 PE1 NX_P01225 14700 129 6.77 11 Secreted Hypogonadotropic hypogonadism 24 without anosmia 0 PE1 NX_P01229 15345 141 8 19 Secreted Hypogonadotropic hypogonadism 23 without anosmia 0 PE1 NX_P01236 25876 227 6.5 6 Cytosol;Secreted NA 0 PE1 NX_P01241 24847 217 5.29 17 Secreted Growth hormone deficiency, isolated, 1A;Growth hormone deficiency, isolated, 1B;Kowarski syndrome;Growth hormone deficiency, isolated, 2 0 PE1 NX_P01242 25000 217 7.59 17 Secreted NA 0 PE1 NX_P01258 15467 141 5.77 11 Secreted NA 0 PE1 NX_P01266 304790 2768 5.4 8 Secreted Autoimmune thyroid disease 3;Thyroid dyshormonogenesis 3 0 PE1 NX_P01270 12861 115 9.72 11 Secreted Hypoparathyroidism, familial isolated 0 PE1 NX_P01275 20909 180 5.85 2 Cytoplasmic vesicle;Endoplasmic reticulum;Secreted NA 0 PE1 NX_P01282 19169 170 6.15 6 Endoplasmic reticulum;Secreted NA 0 PE1 NX_P01286 12447 108 10.54 20 Secreted NA 0 PE1 NX_P01298 10445 95 6.71 17 Secreted NA 0 PE1 NX_P01303 10851 97 6.57 7 Golgi apparatus;Secreted NA 0 PE1 NX_P01308 11981 110 5.22 11 Secreted Hyperproinsulinemia;Diabetes mellitus, insulin-dependent, 2;Diabetes mellitus, permanent neonatal;Maturity-onset diabetes of the young 10 0 PE1 NX_P01344 20140 180 9.5 11 Nucleoplasm;Cytoplasmic vesicle;Secreted Silver-Russell syndrome;Growth restriction, severe, with distinctive facies 0 PE1 NX_P01350 11394 101 5.08 17 Secreted NA 0 PE1 NX_P01374 22297 205 9.1 6 Secreted;Membrane Psoriatic arthritis 0 PE1 NX_P01375 25644 233 6.44 6 Membrane;Cell membrane;Secreted Psoriatic arthritis 1 PE1 NX_P01562 21725 189 5.32 9 Secreted NA 0 PE1 NX_P01563 21550 188 6.32 9 Secreted NA 0 PE1 NX_P01566 21835 189 5.97 9 Secreted NA 0 PE1 NX_P01567 22107 189 6.44 9 Secreted NA 0 PE1 NX_P01568 21741 189 6.33 9 Secreted NA 0 PE1 NX_P01569 21942 189 5.68 9 Secreted NA 0 PE1 NX_P01570 22063 189 6.83 9 Secreted NA 0 PE1 NX_P01571 21728 189 5.68 9 Secreted NA 0 PE1 NX_P01574 22294 187 8.93 9 Secreted NA 0 PE1 NX_P01579 19348 166 9.5 12 Secreted Aplastic anemia 0 PE1 NX_P01583 30607 271 5.04 2 Secreted NA 0 PE1 NX_P01584 30748 269 4.7 2 Cytosol;Lysosome;Exosome;Secreted NA 0 PE1 NX_P01588 21307 193 8.3 7 Secreted Diamond-Blackfan anemia-like;Erythrocytosis, familial, 5;Microvascular complications of diabetes 2 0 PE1 NX_P01589 30819 272 6.11 10 Membrane Immunodeficiency 41 with lymphoproliferation and autoimmunity;Diabetes mellitus, insulin-dependent, 10 1 PE1 NX_P01591 18099 159 5.12 4 Secreted NA 0 PE1 NX_P01593 12848 117 4.53 2 Cell membrane;Secreted NA 0 PE1 NX_P01594 12848 117 4.53 2 Cell membrane;Secreted NA 0 PE1 NX_P01597 12737 117 8.91 2 Cell membrane;Secreted NA 0 PE1 NX_P01599 12779 117 8.93 2 Cell membrane;Secreted NA 0 PE1 NX_P01601 12730 117 7.62 2 Cell membrane;Secreted NA 0 PE1 NX_P01602 12782 117 8.49 2 Cell membrane;Secreted NA 0 PE1 NX_P01611 12620 117 7.69 2 Cell membrane;Secreted NA 0 PE1 NX_P01614 13310 121 4.43 2 Cell membrane;Secreted NA 0 PE1 NX_P01615 12957 120 5.61 2 Cell membrane;Secreted NA 0 PE1 NX_P01619 12557 116 4.85 2 Cell membrane;Secreted NA 0 PE1 NX_P01624 12496 115 5.14 2 Cell membrane;Secreted NA 0 PE1 NX_P01699 12201 117 4.94 22 Cell membrane;Secreted NA 0 PE1 NX_P01700 12284 117 5.55 22 Cell membrane;Secreted NA 0 PE1 NX_P01701 12249 117 6.5 22 Cell membrane;Secreted NA 0 PE1 NX_P01703 12302 118 5.39 22 Cell membrane;Secreted NA 0 PE1 NX_P01704 12597 120 6 22 Cell membrane;Secreted NA 0 PE1 NX_P01705 11893 113 5.59 22 Cell membrane;Secreted NA 0 PE1 NX_P01706 12644 119 6.69 22 Cell membrane;Secreted NA 0 PE1 NX_P01709 12382 118 5.59 22 Cell membrane;Secreted NA 0 PE1 NX_P01714 12042 112 4.76 22 Cell membrane;Secreted NA 0 PE1 NX_P01715 12296 115 4.75 22 Cell membrane;Secreted NA 0 PE1 NX_P01717 12011 112 4.37 22 Cell membrane;Secreted NA 0 PE1 NX_P01718 12165 113 4.89 22 Cell membrane;Secreted NA 0 PE1 NX_P01721 12566 117 4.59 22 Cell membrane;Secreted NA 0 PE1 NX_P01730 51111 458 9.6 12 Cell membrane NA 1 PE1 NX_P01732 25729 235 9.64 2 Cell membrane;Secreted CD8 deficiency, familial 1 PE1 NX_P01733 12997 115 5.84 7 Cell membrane NA 0 PE1 NX_P01737 12377 113 6.81 14 Cell membrane NA 0 PE2 NX_P01742 12659 117 9.26 14 Cell membrane;Secreted NA 0 PE1 NX_P01743 12933 117 9.1 14 Cell membrane;Secreted NA 0 PE1 NX_P01762 12909 117 8.82 14 Cell membrane;Secreted NA 0 PE1 NX_P01763 12813 117 5.31 14 Cell membrane;Secreted NA 0 PE1 NX_P01764 12582 117 8.49 14 Cell membrane;Secreted NA 0 PE1 NX_P01766 12506 116 6.54 14 Cell membrane;Secreted NA 0 PE1 NX_P01767 12770 116 8.49 14 Cell membrane;Secreted NA 0 PE1 NX_P01768 12947 117 9.1 14 Cell membrane;Secreted NA 0 PE1 NX_P01772 13074 117 9.12 14 Cell membrane;Secreted NA 0 PE1 NX_P01780 12943 117 6.21 14 Cell membrane;Secreted NA 0 PE1 NX_P01782 12945 118 6.55 14 Cell membrane;Secreted NA 0 PE1 NX_P01814 13260 119 6.1 14 Cell membrane;Secreted NA 0 PE1 NX_P01817 13231 119 8.49 14 Cell membrane;Secreted NA 0 PE1 NX_P01824 13917 125 9.35 14 Cell membrane;Secreted NA 0 PE1 NX_P01825 12936 116 9.36 14 Cell membrane;Secreted NA 0 PE1 NX_P01833 83284 764 5.59 1 Cell membrane;Secreted NA 1 PE1 NX_P01834 11765 107 6.11 2 Cell membrane;Secreted Immunoglobulin kappa light chain deficiency 0 PE1 NX_P01848 15717 140 4.58 14 Cell membrane Immunodeficiency 7 1 PE1 NX_P01850 19769 176 5.8 7 Cell membrane NA 1 PE1 NX_P01854 47019 428 8.39 14 Cell membrane;Secreted NA 0 PE1 NX_P01857 36106 330 8.46 14 Cell membrane;Secreted Multiple myeloma 0 PE1 NX_P01859 35901 326 7.66 14 Cell membrane;Secreted NA 0 PE1 NX_P01860 41287 377 8.23 14 Cell membrane;Secreted NA 0 PE1 NX_P01861 35941 327 7.18 14 Cell membrane;Secreted NA 0 PE1 NX_P01871 49440 453 6.35 14 Cell membrane;Secreted Agammaglobulinemia 1, autosomal recessive 0 PE1 NX_P01876 37655 353 6.08 14 Cell membrane;Secreted NA 0 PE1 NX_P01877 36591 340 5.86 14 Cell membrane;Secreted NA 0 PE1 NX_P01880 42353 384 8.38 14 Cell membrane;Secreted NA 0 PE1 NX_P01889 40460 362 5.57 6 Membrane NA 1 PE1 NX_P01891 40909 365 6.22 6 Membrane NA 1 PE1 NX_P01892 40922 365 6.5 6 Membrane NA 1 PE1 NX_P01893 40892 362 5.91 6 Cell membrane NA 1 PE5 NX_P01903 28607 254 4.91 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 NX_P01906 28033 255 4.78 6 Endosome membrane;Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane NA 1 PE1 NX_P01909 27805 254 5.44 6 Endosome membrane;Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane NA 1 PE1 NX_P01911 29966 266 7.64 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 NX_P01912 30120 266 8.21 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 NX_P01920 29991 261 6.76 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Golgi apparatus;Cytoplasm;Cell membrane;Endosome membrane NA 1 PE1 NX_P02008 15637 142 7.94 16 NA NA 0 PE1 NX_P02042 16055 147 7.84 11 NA NA 0 PE1 NX_P02100 16203 147 8.67 11 NA NA 0 PE1 NX_P02144 17184 154 7.14 22 NA NA 0 PE1 NX_P02452 138941 1464 5.6 17 Cytosol;Cytoplasmic vesicle;Extracellular matrix Ehlers-Danlos syndrome, classic type, 1;Caffey disease;Osteogenesis imperfecta 4;Osteogenesis imperfecta 3;Osteogenesis imperfecta 2;Osteogenesis imperfecta 1;Ehlers-Danlos syndrome, arthrochalasia type, 1;Osteoporosis 0 PE1 NX_P02458 141785 1487 6.58 12 Nucleoplasm;Extracellular matrix Legg-Calve-Perthes disease;Spondyloepiphyseal dysplasia congenital type;Multiple epiphyseal dysplasia with myopia and conductive deafness;Kniest dysplasia;Avascular necrosis of femoral head, primary, 1;Platyspondylic lethal skeletal dysplasia Torrance type;Osteoarthritis with mild chondrodysplasia;Achondrogenesis 2;Spondyloperipheral dysplasia;Rhegmatogenous retinal detachment autosomal dominant;Czech dysplasia;Spondyloepiphyseal dysplasia, Stanescu type;Stickler syndrome 1;Spondyloepimetaphyseal dysplasia, Strudwick type;Stickler syndrome 1 non-syndromic ocular 0 PE1 NX_P02461 138564 1466 6.21 2 Extracellular matrix Ehlers-Danlos syndrome, vascular type 0 PE1 NX_P02462 160611 1669 8.55 13 Nucleoplasm;Cytosol;Basement membrane Porencephaly 1;Hereditary angiopathy with nephropathy aneurysms and muscle cramps;Intracerebral hemorrhage;Tortuosity of retinal arteries;Brain small vessel disease with or without ocular anomalies;Schizencephaly 0 PE1 NX_P02489 19909 173 5.77 21 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Cataract 9, multiple types 0 PE1 NX_P02511 20159 175 6.76 11 Cytosol;Cytoplasm;Nucleus;Cell membrane Cataract 16, multiple types;Cardiomyopathy, dilated 1II;Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related;Myopathy, myofibrillar, 2 0 PE1 NX_P02533 51561 472 5.09 17 Cytoplasm;Nucleus Naegeli-Franceschetti-Jadassohn syndrome;Epidermolysis bullosa simplex, Dowling-Meara type;Epidermolysis bullosa simplex, autosomal recessive 1;Epidermolysis bullosa simplex, Weber-Cockayne type;Dermatopathia pigmentosa reticularis;Epidermolysis bullosa simplex, Koebner type 0 PE1 NX_P02538 60045 564 8.09 12 NA Pachyonychia congenita 3 0 PE1 NX_P02545 74139 664 6.57 1 Nucleoplasm;Nucleus speckle;Nucleus;Nucleus envelope;Nucleus lamina Lipodystrophy, familial partial, 2;Lethal tight skin contracture syndrome;Emery-Dreifuss muscular dystrophy 2, autosomal dominant;Mandibuloacral dysplasia with type A lipodystrophy;Hutchinson-Gilford progeria syndrome;Muscular dystrophy congenital LMNA-related;Limb-girdle muscular dystrophy 1B;Charcot-Marie-Tooth disease 2B1;Cardiomyopathy, dilated 1A;Heart-hand syndrome Slovenian type;Cardiomyopathy, dilated, with hypergonadotropic hypogonadism;Emery-Dreifuss muscular dystrophy 3, autosomal recessive 0 PE1 NX_P02549 280014 2419 4.95 1 Cytoskeleton;Cell cortex Spherocytosis 3;Elliptocytosis 2;Hereditary pyropoikilocytosis 0 PE1 NX_P02585 18122 160 4.06 20 Cytoplasmic vesicle;Cytoplasm;Nucleoplasm NA 0 PE1 NX_P02647 30778 267 5.56 11 Cytosol;Cytoplasmic vesicle;Secreted Amyloidosis 8;High density lipoprotein deficiency 2;High density lipoprotein deficiency 1 0 PE1 NX_P02649 36154 317 5.65 19 Cytoplasmic vesicle;Extracellular space;Extracellular matrix;Secreted Alzheimer disease 2;Hyperlipoproteinemia 3;Lipoprotein glomerulopathy;Familial hypercholesterolemia;Sea-blue histiocyte disease 0 PE1 NX_P02652 11175 100 6.27 1 Secreted NA 0 PE1 NX_P02654 9332 83 8.01 19 Endoplasmic reticulum;Secreted NA 0 PE1 NX_P02655 11284 101 4.72 19 Secreted Hyperlipoproteinemia 1B 0 PE1 NX_P02656 10852 99 5.23 11 Nucleoplasm;Nucleolus;Cell junction;Secreted Hyperalphalipoproteinemia 2 0 PE1 NX_P02671 94973 866 5.7 4 Secreted Congenital afibrinogenemia;Dysfibrinogenemia, congenital;Amyloidosis 8 0 PE1 NX_P02675 55928 491 8.54 4 Endoplasmic reticulum;Secreted Congenital afibrinogenemia;Dysfibrinogenemia, congenital 0 PE1 NX_P02679 51512 453 5.37 4 Secreted Congenital afibrinogenemia;Dysfibrinogenemia, congenital 0 PE1 NX_P02686 33117 304 9.79 18 Myelin membrane;Nucleus;Cell membrane NA 0 PE1 NX_P02689 14909 132 9.84 8 Cytoplasm NA 0 PE1 NX_P02708 54546 482 5.78 2 Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 1A, slow-channel;Multiple pterygium syndrome, lethal type;Myasthenic syndrome, congenital, 1B, fast-channel 4 PE1 NX_P02724 16331 150 5.29 4 Cell membrane NA 1 PE1 NX_P02730 101792 911 5.08 17 Basolateral cell membrane;Cell membrane Renal tubular acidosis, distal, with normal red cell morphology;Renal tubular acidosis, distal, with hemolytic anemia;Cryohydrocytosis;Renal tubular acidosis, distal, autosomal dominant;Spherocytosis 4;Ovalocytosis, Southeast Asian 12 PE1 NX_P02741 25039 224 5.45 1 Secreted NA 0 PE1 NX_P02743 25387 223 6.1 1 Secreted NA 0 PE1 NX_P02745 26017 245 9.26 1 Cytosol;Golgi apparatus;Secreted Complement component C1q deficiency 0 PE1 NX_P02746 26722 253 8.83 1 Secreted Complement component C1q deficiency 0 PE1 NX_P02747 25774 245 8.61 1 Cytoplasmic vesicle;Secreted Complement component C1q deficiency 0 PE1 NX_P02748 63173 559 5.43 5 Cytosol;Target cell membrane;Cell membrane;Secreted Macular degeneration, age-related, 15;Complement component 9 deficiency 2 PE1 NX_P02749 38298 345 8.34 17 Golgi apparatus;Secreted NA 0 PE1 NX_P02750 38178 347 6.45 19 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_P02751 262625 2386 5.46 2 Extracellular matrix Glomerulopathy with fibronectin deposits 2;Spondylometaphyseal dysplasia, corner fracture type 0 PE1 NX_P02753 23010 201 5.76 10 Secreted Microphthalmia, isolated, with coloboma, 10;Retinal dystrophy, iris coloboma, and comedogenic acne syndrome 0 PE1 NX_P02760 38999 352 5.95 9 Secreted NA 0 PE1 NX_P02763 23512 201 4.93 9 Secreted NA 0 PE1 NX_P02765 39341 367 5.43 3 Golgi apparatus;Secreted Alopecia-mental retardation syndrome 1 0 PE1 NX_P02766 15887 147 5.52 18 Cytoplasm;Golgi apparatus;Secreted Amyloidosis, transthyretin-related;Carpal tunnel syndrome 1;Hyperthyroxinemia, dystransthyretinemic 0 PE1 NX_P02768 69367 609 5.92 4 Endoplasmic reticulum;Golgi apparatus;Secreted Hyperthyroxinemia, familial dysalbuminemic;Analbuminemia 0 PE1 NX_P02771 68678 609 5.48 4 Cytosol;Secreted Alpha-fetoprotein, hereditary persistence;Alpha-fetoprotein deficiency 0 PE1 NX_P02774 52918 474 5.32 4 Secreted NA 0 PE1 NX_P02775 13894 128 9.04 4 Secreted NA 0 PE1 NX_P02776 10845 101 8.93 4 Secreted NA 0 PE1 NX_P02778 10881 98 9.93 4 Secreted NA 0 PE1 NX_P02786 84871 760 6.18 3 Endosome;Lysosome;Melanosome;Cell membrane;Secreted Immunodeficiency 46 1 PE1 NX_P02787 77064 698 6.81 3 Mitochondrion;Secreted Atransferrinemia 0 PE1 NX_P02788 78182 710 8.5 3 Cytoplasm;Cytoplasmic granule;Nucleus;Secreted NA 0 PE1 NX_P02790 51676 462 6.55 11 Secreted NA 0 PE1 NX_P02792 20020 175 5.51 19 Cytosol L-ferritin deficiency;Hyperferritinemia with or without cataract;Neurodegeneration with brain iron accumulation 3 0 PE1 NX_P02794 21226 183 5.31 11 Cytoskeleton Hemochromatosis 5 0 PE1 NX_P02795 6042 61 8.23 16 Nucleolus;Nucleus NA 0 PE1 NX_P02808 7304 62 8.01 4 Secreted NA 0 PE1 NX_P02810 17016 166 4.63 12 Secreted NA 0 PE1 NX_P02812 40799 416 11.63 12 Secreted NA 0 PE1 NX_P02814 8188 79 9.62 4 Secreted NA 0 PE1 NX_P02818 10963 100 6.56 1 Secreted NA 0 PE1 NX_P03372 66216 595 8.3 6 Cytoplasmic vesicle;Cytoplasm;Nucleus;Golgi apparatus;Cell membrane Estrogen resistance 0 PE1 NX_P03886 35661 318 6.11 MT Mitochondrion inner membrane Mitochondrial complex I deficiency;Diabetes mellitus, non-insulin-dependent;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Alzheimer disease mitochondrial;Leber hereditary optic neuropathy 8 PE1 NX_P03891 38961 347 9.84 MT Mitochondrion inner membrane Alzheimer disease mitochondrial;Leber hereditary optic neuropathy 10 PE1 NX_P03897 13186 115 4.45 MT Cytosol;Mitochondrion membrane Mitochondrial complex I deficiency;Leigh syndrome 3 PE1 NX_P03901 10741 98 5.73 MT Mitochondrion;Mitochondrion membrane Leber hereditary optic neuropathy 3 PE1 NX_P03905 51581 459 9.4 MT Mitochondrion membrane Leber hereditary optic neuropathy with dystonia;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Leber hereditary optic neuropathy 11 PE1 NX_P03915 67027 603 9.14 MT Mitochondrion inner membrane Mitochondrial complex I deficiency;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Leigh syndrome;Leber hereditary optic neuropathy 15 PE1 NX_P03923 18622 174 4.18 MT Mitochondrion membrane Leber hereditary optic neuropathy with dystonia;Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome;Leber hereditary optic neuropathy;Mitochondrial complex I deficiency 6 PE1 NX_P03928 7992 68 9.92 MT Mitochondrion membrane Mitochondrial complex V deficiency, mitochondrial 2;Cardiomyopathy, infantile hypertrophic 1 PE1 NX_P03950 16550 147 9.73 14 Secretory vesicle lumen;Nucleolus;Nucleus;Secreted Amyotrophic lateral sclerosis 9 0 PE1 NX_P03951 70109 625 8.47 4 Cytoplasmic vesicle;Secreted Factor XI deficiency 0 PE1 NX_P03952 71370 638 8.6 4 Secreted Prekallikrein deficiency 0 PE1 NX_P03956 54007 469 6.47 11 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 NX_P03971 59195 560 7.04 19 Cytoplasmic vesicle;Secreted Persistent Muellerian duct syndrome 1 0 PE1 NX_P03973 14326 132 9.11 20 Secreted NA 0 PE1 NX_P03979 13664 118 8.97 7 Cell membrane NA 0 PE1 NX_P03986 21698 189 5.95 7 Cell membrane NA 1 PE1 NX_P03989 40428 362 5.54 6 Membrane Spondyloarthropathy 1 1 PE1 NX_P03999 39135 348 8.91 7 Membrane Tritan color blindness 7 PE1 NX_P04000 40572 364 8.89 X Membrane Colorblindness, partial, protan series;Blue cone monochromacy 7 PE1 NX_P04001 40584 364 8.9 X Cell membrane Blue cone monochromacy;Cone dystrophy 5;Colorblindness, partial, deutan series 7 PE1 NX_P04003 67033 597 7.15 1 Secreted NA 0 PE1 NX_P04004 54306 478 5.55 17 Cytoplasmic vesicle;Extracellular space;Endoplasmic reticulum NA 0 PE1 NX_P04035 97476 888 6.33 5 Endoplasmic reticulum membrane NA 7 PE1 NX_P04040 59756 527 6.9 11 Cytoplasmic vesicle;Cytosol;Peroxisome Acatalasemia 0 PE1 NX_P04049 73052 648 9.33 3 Mitochondrion;Cytoplasm;Nucleus;Cell membrane;Nucleus speckle LEOPARD syndrome 2;Cardiomyopathy, dilated 1NN;Noonan syndrome 5 0 PE1 NX_P04053 58536 509 8.66 10 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_P04054 16360 148 8.16 12 Cytosol;Secreted NA 0 PE1 NX_P04062 59716 536 7.29 1 Lysosome membrane Gaucher disease perinatal lethal;Gaucher disease 3C;Gaucher disease 2;Gaucher disease 3;Gaucher disease 1;Parkinson disease;Gaucher disease 0 PE1 NX_P04066 53689 466 6.37 1 Lysosome Fucosidosis 0 PE1 NX_P04070 52071 461 5.85 2 Endoplasmic reticulum;Golgi apparatus;Secreted Thrombophilia due to protein C deficiency, autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive 0 PE1 NX_P04075 39420 364 8.3 16 Cytosol;I band;M line;Nucleus Glycogen storage disease 12 0 PE1 NX_P04080 11140 98 6.96 21 Cytosol;Cytoplasm;Nucleolus;Nucleus Epilepsy, progressive myoclonic 1 0 PE1 NX_P04083 38714 346 6.57 9 Extracellular space;Apical cell membrane;Basolateral cell membrane;Secreted;Cytosol;Cytoplasm;Membrane;Cell membrane;Exosome;Endosome membrane;Nucleoplasm;Phagocytic cup;Nucleus;Early endosome;Cytoplasmic vesicle membrane;Secretory vesicle lumen;Cilium;Lateral cell membrane NA 0 PE1 NX_P04085 24043 211 9.52 7 Cytoplasmic vesicle;Secreted;Microtubule organizing center NA 0 PE1 NX_P04090 21043 185 8.88 9 Secreted NA 0 PE1 NX_P04114 515605 4563 6.58 2 Cytoplasmic vesicle;Cytoplasm;Cytosol;Secreted Hypobetalipoproteinemia, familial, 1;Familial ligand-defective apolipoprotein B-100 0 PE1 NX_P04118 11954 112 7.48 6 Secreted NA 0 PE1 NX_P04141 16295 144 5.21 5 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_P04150 85659 777 6 5 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Mitochondrion;Spindle;Centrosome Glucocorticoid resistance, generalized 0 PE1 NX_P04155 9150 84 4.29 21 Secreted NA 0 PE1 NX_P04156 27661 253 9.13 20 Cytosol;Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Nucleus membrane Creutzfeldt-Jakob disease;Spongiform encephalopathy with neuropsychiatric features;Huntington disease-like 1;Fatal familial insomnia;Kuru;Gerstmann-Straussler disease 0 PE1 NX_P04179 24750 222 8.35 6 Mitochondrion matrix Microvascular complications of diabetes 6 0 PE1 NX_P04180 49578 440 5.71 16 Nucleoplasm;Secreted Fish-eye disease;Lecithin-cholesterol acyltransferase deficiency 0 PE1 NX_P04181 48535 439 6.57 10 Mitochondrion matrix;Mitochondrion;Nucleoplasm Hyperornithinemia with gyrate atrophy of choroid and retina 0 PE1 NX_P04183 25469 234 8.85 17 Cytoplasm NA 0 PE1 NX_P04196 59578 525 7.09 3 Nucleolus;Secreted Thrombophilia due to histidine-rich glycoprotein deficiency 0 PE1 NX_P04198 49561 464 5.45 2 Nucleolus;Nucleus Feingold syndrome 1 0 PE1 NX_P04201 37465 325 8.9 6 Cell membrane NA 7 PE1 NX_P04211 12451 117 6.52 22 Cell membrane;Secreted NA 0 PE1 NX_P04216 17935 161 8.96 11 Nucleus;Cell membrane;Endoplasmic reticulum NA 0 PE1 NX_P04217 54254 495 5.56 19 Secreted NA 0 PE1 NX_P04222 40861 366 5.97 6 Membrane NA 1 PE1 NX_P04229 29914 266 7.61 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane Sarcoidosis 1 1 PE1 NX_P04233 33516 296 8.72 5 Endoplasmic reticulum membrane;Endosome;Golgi apparatus;Lysosome;Cell membrane;trans-Golgi network NA 1 PE1 NX_P04234 18930 171 5.3 11 Cell membrane Immunodeficiency 19 1 PE1 NX_P04259 60067 564 8.09 12 NA Pachyonychia congenita 4 0 PE1 NX_P04264 66039 644 8.15 12 Cell membrane Ichthyosis hystrix, Curth-Macklin type;Keratoderma, palmoplantar, non-epidermolytic;Ichthyosis annular epidermolytic;Keratoderma, palmoplantar, striate 3;Epidermolytic hyperkeratosis 0 PE1 NX_P04271 10713 92 4.57 21 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_P04275 309265 2813 5.29 12 Secreted;Extracellular matrix von Willebrand disease 1;von Willebrand disease 3;von Willebrand disease 2 0 PE1 NX_P04278 43779 402 6.22 17 Secreted NA 0 PE1 NX_P04279 52131 462 9.3 20 Secreted NA 0 PE1 NX_P04280 38562 392 11.22 12 Secreted NA 0 PE1 NX_P04350 49586 444 4.78 19 Cytoskeleton Dystonia 4, torsion, autosomal dominant;Leukodystrophy, hypomyelinating, 6 0 PE1 NX_P04406 36053 335 8.57 12 Cytosol;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Membrane;Cytoskeleton NA 0 PE1 NX_P04424 51658 464 6.04 7 Cytosol Argininosuccinic aciduria 0 PE1 NX_P04430 12618 117 8.4 2 Cell membrane;Secreted NA 0 PE1 NX_P04432 12737 117 8.91 2 Cell membrane;Secreted NA 0 PE1 NX_P04433 12575 115 4.85 2 Cell membrane;Secreted NA 0 PE1 NX_P04435 13107 115 7.7 7 Cell membrane NA 0 PE1 NX_P04437 13438 119 6.03 14 Cell membrane NA 0 PE1 NX_P04439 40841 365 5.66 6 Membrane NA 1 PE1 NX_P04440 29159 258 8.83 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Nucleus;Cell junction NA 1 PE1 NX_P04553 6823 51 12.08 16 Nucleus;Chromosome NA 0 PE1 NX_P04554 13051 102 11.9 16 Nucleus;Chromosome NA 0 PE1 NX_P04626 137910 1255 5.58 17 Cytosol;Cytoplasm;Perinuclear region;Nucleus;Cell membrane Ovarian cancer;Gastric cancer;Lung cancer;Glioma 1 PE1 NX_P04628 40982 370 9.28 12 Secreted;Extracellular matrix Osteogenesis imperfecta 15;Osteoporosis 0 PE1 NX_P04629 87497 796 6.17 1 Cytosol;Early endosome membrane;Cell membrane;Cytoplasmic vesicle;Late endosome membrane;Recycling endosome membrane Congenital insensitivity to pain with anhidrosis 1 PE1 NX_P04632 28316 268 5.05 19 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA 0 PE1 NX_P04637 43653 393 6.33 17 PML body;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Nucleus;Mitochondrion matrix Papilloma of choroid plexus;Basal cell carcinoma 7;Li-Fraumeni syndrome;Adrenocortical carcinoma;Esophageal cancer;Lung cancer;Squamous cell carcinoma of the head and neck 0 PE1 NX_P04731 6120 61 8.38 16 NA NA 0 PE1 NX_P04732 6014 61 8.38 16 Nucleoplasm NA 0 PE1 NX_P04733 6086 61 8.23 16 NA NA 0 PE1 NX_P04745 57768 511 6.47 1 Secreted NA 0 PE1 NX_P04746 57707 511 6.6 1 Extracellular space NA 0 PE1 NX_P04792 22783 205 5.98 7 Cytosol;Cytoplasm;Spindle;Nucleus;Cell membrane Charcot-Marie-Tooth disease 2F;Neuronopathy, distal hereditary motor, 2B 0 PE1 NX_P04798 58165 512 8.61 15 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_P04808 21146 185 8.97 9 Secreted NA 0 PE2 NX_P04818 35716 313 6.51 18 Mitochondrion inner membrane;Cytoplasm;Mitochondrion;Mitochondrion matrix;Nucleus NA 0 PE1 NX_P04839 65336 570 8.9 X Cell membrane Immunodeficiency 34;Granulomatous disease, chronic, X-linked 6 PE1 NX_P04843 68569 607 5.96 3 Endoplasmic reticulum membrane;Melanosome;Endoplasmic reticulum NA 1 PE1 NX_P04844 69284 631 5.44 20 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 3 PE1 NX_P04899 40451 355 5.34 3 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Membrane;Centrosome NA 0 PE1 NX_P04908 14135 130 11.05 6 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_P04920 137009 1241 5.9 7 Cytosol;Nucleus speckle;Cell membrane;Membrane NA 10 PE1 NX_P04921 13811 128 4.68 2 Cytoplasmic vesicle;Cytosol;Cell membrane NA 1 PE1 NX_P05000 22319 195 9.18 9 Secreted NA 0 PE1 NX_P05013 22141 189 6.9 9 Secreted NA 0 PE1 NX_P05014 21808 189 5.76 9 Secreted NA 0 PE1 NX_P05015 21711 189 6.31 9 Secreted NA 0 PE2 NX_P05019 21841 195 9.78 12 Secreted Insulin-like growth factor I deficiency 0 PE1 NX_P05023 112896 1023 5.33 1 Melanosome;Sarcolemma;Cell membrane Charcot-Marie-Tooth disease 2DD 10 PE1 NX_P05026 35061 303 8.74 1 Cell membrane;Sarcolemma NA 1 PE1 NX_P05060 78276 677 5.02 20 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_P05062 39473 364 8.01 9 Centriolar satellite Hereditary fructose intolerance 0 PE1 NX_P05067 86943 770 4.73 21 Perikaryon;Golgi apparatus;Membrane;Clathrin-coated pit;Cell membrane;Cytoplasmic vesicle;Early endosome;Growth cone Alzheimer disease 1;Cerebral amyloid angiopathy, APP-related 1 PE1 NX_P05089 34735 322 6.72 6 Cytoplasm;Cytoplasmic granule Argininemia 0 PE1 NX_P05090 21276 189 5.06 3 Cell membrane;Secreted NA 0 PE1 NX_P05091 56381 517 6.63 12 Mitochondrion matrix NA 0 PE1 NX_P05093 57371 508 8.72 10 Membrane Adrenal hyperplasia 5 0 PE1 NX_P05106 87058 788 5.09 17 Focal adhesion;Lamellipodium membrane;Cell membrane Bleeding disorder, platelet-type 16;Glanzmann thrombasthenia 1 PE1 NX_P05107 84782 769 6.66 21 Membrane raft;Cell membrane Leukocyte adhesion deficiency 1 1 PE1 NX_P05108 60102 521 8.89 15 Mitochondrion inner membrane Adrenal insufficiency, congenital, with 46,XY sex reversal 0 PE1 NX_P05109 10835 93 6.51 1 Cytoplasm;Cytoskeleton;Cell membrane;Secreted NA 0 PE1 NX_P05111 39670 366 8.29 2 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_P05112 17492 153 9.17 5 Secreted Ischemic stroke 0 PE1 NX_P05113 15238 134 7.81 5 Secreted NA 0 PE1 NX_P05114 10659 100 9.6 21 Cytoplasm;Nucleus NA 0 PE1 NX_P05120 46596 415 5.46 18 Cytoplasm;Extracellular space NA 0 PE1 NX_P05121 45060 402 6.68 7 Cytosol;Secreted Plasminogen activator inhibitor-1 deficiency 0 PE1 NX_P05129 78448 697 7.27 19 Cytoplasm;Dendrite;Perinuclear region;Cell membrane;Synaptosome Spinocerebellar ataxia 14 0 PE1 NX_P05141 32852 298 9.71 X Cytoplasm;Mitochondrion inner membrane NA 6 PE1 NX_P05154 45675 406 9.3 14 Mitochondrion;Extracellular space NA 0 PE1 NX_P05155 55154 500 6.09 11 Secreted Hereditary angioedema 0 PE1 NX_P05156 65750 583 7.72 4 Extracellular space Hemolytic uremic syndrome atypical 3;Macular degeneration, age-related, 13;Complement factor I deficiency 0 PE1 NX_P05160 75511 661 6.01 1 Secreted Factor XIII subunit B deficiency 0 PE1 NX_P05161 17888 165 6.83 1 Cytoplasm;Secreted Immunodeficiency 38, with basal ganglia calcification 0 PE1 NX_P05162 14644 132 5.93 22 Mitochondrion;Nucleoplasm NA 0 PE1 NX_P05164 83869 745 9.19 17 Cytoplasmic vesicle;Nucleus;Lysosome Myeloperoxidase deficiency 0 PE1 NX_P05165 80059 728 7.24 13 Mitochondrion matrix Propionic acidemia type I 0 PE1 NX_P05166 58216 539 7.56 3 Mitochondrion matrix Propionic acidemia type II 0 PE1 NX_P05177 58407 516 9.18 15 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_P05181 56849 493 8.28 10 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_P05186 57305 524 6.19 1 Cytosol;Cell membrane Hypophosphatasia childhood type;Hypophosphatasia;Hypophosphatasia infantile type 0 PE1 NX_P05187 57954 535 5.86 2 Cell membrane NA 1 PE1 NX_P05198 36112 315 5.02 14 Stress granule;Nucleoplasm;Cytosol NA 0 PE1 NX_P05204 9393 90 10 1 Cytoplasm;Nucleus NA 0 PE1 NX_P05230 17460 155 6.52 5 Cytosol;Nucleus;Secreted;Cell cortex;Cytoplasm NA 0 PE1 NX_P05231 23718 212 6.17 7 Cytoplasmic vesicle;Secreted Rheumatoid arthritis systemic juvenile 0 PE1 NX_P05305 24425 212 9.52 6 Nucleolus;Nucleus;Golgi apparatus;Secreted Auriculocondylar syndrome 3;Question mark ears, isolated 0 PE1 NX_P05362 57825 532 8.31 19 Cytosol;Cell membrane;Membrane NA 1 PE1 NX_P05386 11514 114 4.26 15 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_P05387 11665 115 4.42 11 Mitochondrion;Cytoplasm NA 0 PE1 NX_P05388 34274 317 5.72 12 Cytoplasm;Nucleus NA 0 PE1 NX_P05408 23730 212 5.62 15 Secreted NA 0 PE1 NX_P05412 35676 331 8.9 1 Nucleoplasm;Nucleus NA 0 PE1 NX_P05413 14858 133 6.29 1 Cytoplasm;Golgi apparatus NA 0 PE1 NX_P05423 44396 398 6.51 8 Nucleoplasm;Nucleus NA 0 PE1 NX_P05451 18731 166 5.65 2 Secreted NA 0 PE1 NX_P05452 22537 202 5.52 3 Secreted NA 0 PE1 NX_P05455 46837 408 6.68 2 Nucleoplasm;Nucleus NA 0 PE1 NX_P05496 14277 136 9.81 17 Mitochondrion;Mitochondrion membrane NA 2 PE1 NX_P05534 40689 365 5.91 6 Membrane NA 1 PE1 NX_P05538 30387 268 6.32 6 Endoplasmic reticulum membrane;Endosome membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane NA 1 PE1 NX_P05543 46325 415 5.87 X Secreted NA 0 PE1 NX_P05546 57071 499 6.41 22 Cytoplasmic vesicle Thrombophilia due to heparin cofactor 2 deficiency 0 PE1 NX_P05549 48062 437 8.1 6 Nucleoplasm;Nucleus Branchiooculofacial syndrome 0 PE1 NX_P05556 88415 798 5.27 10 Invadopodium membrane;Melanosome;Ruffle membrane;Cleavage furrow;Cell membrane;Focal adhesion;Endoplasmic reticulum;Sarcolemma;Lamellipodium;Cell surface;Recycling endosome;Cell junction;Ruffle NA 1 PE1 NX_P05771 76869 671 6.57 16 Cytosol;Cytoplasm;Nucleus;Nucleoplasm;Membrane NA 0 PE1 NX_P05783 48058 430 5.34 12 Cytosol;Cytoplasm;Perinuclear region;Nucleolus Cirrhosis 0 PE1 NX_P05787 53704 483 5.52 12 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus matrix Cirrhosis 0 PE1 NX_P05813 25150 215 5.82 17 NA Cataract 10, multiple types 0 PE1 NX_P05814 25382 226 5.52 4 Secreted NA 0 PE1 NX_P05937 30025 261 4.7 8 Cytoplasmic vesicle NA 0 PE1 NX_P05976 21145 194 4.97 2 NA NA 0 PE1 NX_P05981 45011 417 7.8 19 Apical cell membrane;Cell membrane NA 1 PE1 NX_P05997 144910 1499 6.07 2 Extracellular matrix Ehlers-Danlos syndrome, classic type, 2 0 PE1 NX_P06028 9782 91 9.43 4 Cell membrane NA 1 PE1 NX_P06126 37077 327 6.3 1 Endosome membrane;Membrane raft;Cell membrane NA 1 PE1 NX_P06127 54578 495 8.59 11 Cell membrane NA 1 PE1 NX_P06132 40787 367 5.77 1 Cytosol;Cytoplasm;Nucleoplasm Familial porphyria cutanea tarda;Hepatoerythropoietic porphyria 0 PE1 NX_P06133 60513 528 8.7 4 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_P06213 156333 1382 5.83 19 Cytoplasmic vesicle;Cell membrane Leprechaunism;Insulin-resistant diabetes mellitus with acanthosis nigricans type A;Rabson-Mendenhall syndrome;Diabetes mellitus, non-insulin-dependent;Familial hyperinsulinemic hypoglycemia 5 1 PE1 NX_P06239 58001 509 5.23 1 Cytoplasm;Cell membrane;Golgi apparatus Immunodeficiency 22 0 PE1 NX_P06241 60762 537 6.23 6 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_P06276 68418 602 7.12 3 Secreted Butyrylcholinesterase deficiency 0 PE1 NX_P06280 48767 429 5.35 X Lysosome Fabry disease 0 PE1 NX_P06307 12669 115 9.18 3 Secreted NA 0 PE1 NX_P06310 13185 120 8.71 2 Cell membrane;Secreted NA 0 PE1 NX_P06312 13380 121 5.09 2 Cell membrane;Secreted NA 0 PE1 NX_P06315 12728 115 4.21 2 Cell membrane;Secreted NA 0 PE1 NX_P06331 13815 123 9.39 14 Cell membrane;Secreted NA 0 PE1 NX_P06340 27599 250 5.57 6 Endosome membrane;Lysosome membrane NA 1 PE1 NX_P06396 85698 782 5.9 9 Cytoskeleton;Secreted Amyloidosis 5 0 PE1 NX_P06400 106159 928 8.13 13 Nucleoplasm;Nucleus Osteogenic sarcoma;Bladder cancer;Childhood cancer retinoblastoma 0 PE1 NX_P06401 98981 933 6.09 11 Cytoplasm;Nucleus;Mitochondrion outer membrane NA 0 PE1 NX_P06454 12203 111 3.69 2 Nucleus NA 0 PE1 NX_P06493 34095 297 8.38 10 Cytosol;Cytoplasm;Nucleus;Mitochondrion;Spindle;Centrosome NA 0 PE1 NX_P06576 56560 529 5.26 12 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_P06681 83268 752 7.23 6 Secreted Complement component 2 deficiency 0 PE1 NX_P06702 13242 114 5.71 1 Secreted;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Cytoskeleton;Cell junction NA 0 PE1 NX_P06703 10180 90 5.32 1 Cytosol;Cytoplasm;Nucleus envelope;Cell membrane NA 0 PE1 NX_P06727 45399 396 5.28 11 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_P06729 39448 351 9.66 1 Cell membrane NA 1 PE1 NX_P06730 25097 217 5.79 4 Cytosol;Cytoplasm;P-body Autism 19 0 PE1 NX_P06731 76795 702 5.59 19 Cell surface;Apical cell membrane;Cell membrane NA 0 PE1 NX_P06732 43101 381 6.77 19 Cytoplasm NA 0 PE1 NX_P06733 47169 434 7.01 1 Cytoplasm;M line;Nucleus;Cell membrane NA 0 PE1 NX_P06734 36469 321 5.38 19 Cell membrane;Secreted NA 1 PE1 NX_P06737 97149 847 6.71 14 Cytosol;Cell membrane Glycogen storage disease 6 0 PE1 NX_P06744 63147 558 8.42 19 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane;Secreted Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency 0 PE1 NX_P06746 38178 335 9.01 8 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_P06748 32575 294 4.64 5 Nucleoplasm;Nucleolus;Nucleus;Centrosome NA 0 PE1 NX_P06753 32950 285 4.68 1 Cytoplasm;Cytoskeleton Nemaline myopathy 1;Cap myopathy 1;Myopathy, congenital, with fiber-type disproportion 0 PE1 NX_P06756 116038 1048 5.45 2 Cytosol;Focal adhesion;Membrane NA 1 PE1 NX_P06850 21422 196 10 8 Secreted NA 0 PE1 NX_P06858 53162 475 8.37 8 Cytoplasmic vesicle;Cell membrane;Secreted Lipoprotein lipase deficiency 0 PE1 NX_P06865 60703 529 5.04 15 Lysosome GM2-gangliosidosis 1 0 PE1 NX_P06870 28890 262 4.68 19 NA NA 0 PE1 NX_P06881 13899 128 9.18 11 Secreted NA 0 PE1 NX_P06899 13904 126 10.31 6 Nucleus;Chromosome NA 0 PE1 NX_P07093 44002 398 9.35 2 Extracellular space NA 0 PE1 NX_P07098 45238 398 6.83 10 Secreted NA 0 PE1 NX_P07099 52949 455 6.77 1 Endoplasmic reticulum membrane;Microsome membrane Familial hypercholanemia 1 PE1 NX_P07101 58600 528 5.9 11 NA Segawa syndrome autosomal recessive 0 PE1 NX_P07108 10044 87 6.12 2 Golgi apparatus;Endoplasmic reticulum NA 0 PE1 NX_P07148 14208 127 6.6 2 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 NX_P07195 36638 334 5.71 12 Cytosol;Cytoplasm Lactate dehydrogenase B deficiency 0 PE1 NX_P07196 61517 543 4.64 8 Nucleus speckle;Cytoskeleton Charcot-Marie-Tooth disease 2E;Charcot-Marie-Tooth disease 1F 0 PE1 NX_P07197 102472 916 4.9 8 Cytoskeleton NA 0 PE1 NX_P07199 65171 599 4.49 20 Centromere;Nucleus NA 0 PE1 NX_P07202 102963 933 6.32 2 Cell surface;Membrane Thyroid dyshormonogenesis 2A 1 PE1 NX_P07203 22088 203 6.15 3 Cytosol;Cytoplasm NA 0 PE1 NX_P07204 60329 575 4.78 20 Nucleoplasm;Cytosol;Membrane Hemolytic uremic syndrome atypical 6;Thrombophilia due to thrombomodulin defect 1 PE1 NX_P07205 44796 417 8.74 6 Cytoplasm NA 0 PE1 NX_P07225 75123 676 5.48 3 Secreted Thrombophilia due to protein S deficiency, autosomal recessive;Thrombophilia due to protein S deficiency, autosomal dominant 0 PE1 NX_P07237 57116 508 4.76 17 Endoplasmic reticulum lumen;Melanosome;Cell membrane;Endoplasmic reticulum Cole-Carpenter syndrome 1 0 PE1 NX_P07288 28741 261 7.61 19 Secreted NA 0 PE1 NX_P07305 20863 194 10.84 22 Cytoskeleton;Nucleus;Chromosome;Golgi apparatus NA 0 PE1 NX_P07306 33186 291 5.28 17 Cytoplasmic vesicle;Membrane;Cell junction;Secreted NA 1 PE1 NX_P07307 35092 311 5.81 17 Cell membrane;Endoplasmic reticulum;Membrane NA 1 PE1 NX_P07311 11261 99 9.3 14 Cytosol;Nucleus NA 0 PE1 NX_P07315 20879 174 6.88 2 NA Cataract 2, multiple types 0 PE1 NX_P07316 20908 175 6.88 2 NA Cataract 39, multiple types 0 PE1 NX_P07320 20738 174 7 2 Cytoskeleton;Cell membrane Cataract 4, multiple types 0 PE1 NX_P07327 39859 375 8.26 4 Cytoplasm NA 0 PE1 NX_P07332 93497 822 6.27 15 Golgi apparatus;Cytosol;Cell membrane;Cytoplasmic vesicle;Focal adhesion;Nucleus;Cytoskeleton NA 0 PE1 NX_P07333 107984 972 5.93 5 Cytoplasmic vesicle;Cell membrane Leukoencephalopathy, diffuse hereditary, with spheroids 1 PE1 NX_P07339 44552 412 6.1 11 Extracellular space;Melanosome;Lysosome Ceroid lipofuscinosis, neuronal, 10 0 PE1 NX_P07355 38604 339 7.57 15 Basement membrane;Melanosome NA 0 PE1 NX_P07357 65163 584 6.07 1 Cell membrane;Secreted Complement component 8 deficiency, 1 0 PE1 NX_P07358 67047 591 8.5 1 Secreted Complement component 8 deficiency, 2 0 PE1 NX_P07359 71540 652 5.87 17 Membrane Non-arteritic anterior ischemic optic neuropathy;Pseudo-von Willebrand disease;Bernard-Soulier syndrome;Bernard-Soulier syndrome A2, autosomal dominant 1 PE1 NX_P07360 22277 202 8.49 9 Endoplasmic reticulum;Secreted NA 0 PE1 NX_P07384 81890 714 5.49 11 Cytosol;Cytoplasm;Cell membrane Spastic paraplegia 76, autosomal recessive 0 PE1 NX_P07437 49671 444 4.78 6 Cytoplasm;Cytoskeleton Cortical dysplasia, complex, with other brain malformations 6;Skin creases, congenital symmetric circumferential, 1 0 PE1 NX_P07438 6115 61 8.47 16 NA NA 0 PE1 NX_P07451 29557 260 6.86 8 Cytoplasm NA 0 PE1 NX_P07476 68479 585 4.62 1 Cytosol;Cytoplasm;Nucleus;Centrosome NA 0 PE1 NX_P07477 26558 247 6.08 7 Extracellular space Pancreatitis, hereditary 0 PE1 NX_P07478 26488 247 4.78 7 Extracellular space NA 0 PE1 NX_P07492 16213 148 10.22 18 Secretory vesicle lumen;Secreted NA 0 PE1 NX_P07498 20305 182 8.97 4 Secreted NA 0 PE1 NX_P07510 57883 517 5.86 2 Postsynaptic cell membrane;Cell membrane Multiple pterygium syndrome, lethal type;Multiple pterygium syndrome, Escobar variant 4 PE1 NX_P07550 46459 413 6.59 5 Cytosol;Cell membrane;Early endosome NA 7 PE1 NX_P07585 39747 359 8.75 12 Extracellular matrix Corneal dystrophy, congenital stromal 0 PE1 NX_P07602 58113 524 5.06 10 Cytoplasmic vesicle;Lysosome;Secreted Metachromatic leukodystrophy due to saposin-B deficiency;Combined saposin deficiency;Krabbe disease, atypical, due to saposin A deficiency;Gaucher disease, atypical, due to saposin C deficiency 0 PE1 NX_P07686 63111 556 6.29 5 Lysosome GM2-gangliosidosis 2 0 PE1 NX_P07711 37564 333 5.32 9 Lysosome NA 0 PE1 NX_P07737 15054 140 8.44 17 Cytosol;Cytoplasm;Cytoskeleton Amyotrophic lateral sclerosis 18 0 PE1 NX_P07738 30005 259 6.1 7 Nucleolus Bisphosphoglycerate mutase deficiency 0 PE1 NX_P07741 19608 180 5.78 16 Cytosol;Cytoplasm;Nucleoplasm Adenine phosphoribosyltransferase deficiency 0 PE1 NX_P07766 23147 207 6.32 11 Cell membrane Immunodeficiency 18 1 PE1 NX_P07814 170591 1512 7.02 1 Cytosol;Cytoplasm;Membrane Leukodystrophy, hypomyelinating, 15 0 PE1 NX_P07858 37822 339 5.88 8 Cytoplasmic vesicle;Extracellular space;Nucleolus;Melanosome;Lysosome NA 0 PE1 NX_P07864 36311 332 7.08 11 Cytoplasm NA 0 PE1 NX_P07900 84660 732 4.94 14 Cytosol;Cytoplasm;Nucleus;Cell membrane;Melanosome NA 0 PE1 NX_P07902 43363 379 6.49 9 Cytosol Galactosemia 0 PE1 NX_P07910 33670 306 4.95 14 Nucleoplasm;Nucleus NA 0 PE1 NX_P07911 69761 640 5.05 16 Cilium membrane;Apical cell membrane;Basolateral cell membrane;Secreted Medullary cystic kidney disease 2;Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Familial juvenile hyperuricemic nephropathy 1 0 PE1 NX_P07919 10739 91 4.39 1 Mitochondrion inner membrane NA 0 PE1 NX_P07942 198038 1786 4.83 7 Basement membrane Lissencephaly 5 0 PE1 NX_P07947 60801 543 6.32 18 Cytosol;Centrosome;Cell membrane NA 0 PE1 NX_P07948 58574 512 6.7 8 Golgi apparatus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Perinuclear region;Nucleus;Membrane NA 0 PE1 NX_P07949 124319 1114 6.17 10 Endosome membrane;Cytosol;Cytoplasmic vesicle;Cell membrane Pheochromocytoma;Colorectal cancer;Congenital central hypoventilation syndrome;Medullary thyroid carcinoma;Hirschsprung disease 1;Multiple neoplasia 2B;Multiple neoplasia 2A 1 PE1 NX_P07951 32851 284 4.66 9 Cytoplasm;Cytoskeleton Arthrogryposis, distal, 2B;Cap myopathy 2;Arthrogryposis, distal, 1A;Nemaline myopathy 4 0 PE1 NX_P07954 54637 510 8.85 1 Mitochondrion;Cytoplasm Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer 0 PE1 NX_P07988 42117 381 5.27 2 Surface film Pulmonary surfactant metabolism dysfunction 1;Respiratory distress syndrome in premature infants 0 PE1 NX_P07992 32562 297 5.9 19 Nucleoplasm;Cytoplasm;Nucleus Cerebro-oculo-facio-skeletal syndrome 4 0 PE1 NX_P07996 129383 1170 4.71 15 Secreted;Extracellular matrix;Endoplasmic reticulum;Sarcoplasmic reticulum;Cell membrane;Cell surface NA 0 PE1 NX_P07998 17644 156 9.1 14 Cytoplasmic vesicle;Nucleoplasm;Secreted NA 0 PE1 NX_P08034 32025 283 9.19 X Gap junction;Cell membrane Charcot-Marie-Tooth disease, X-linked dominant, 1;Dejerine-Sottas syndrome 4 PE1 NX_P08047 80693 785 6.94 12 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P08048 90505 801 5.65 Y Nucleus NA 0 PE1 NX_P08069 154793 1367 5.58 15 Cytoplasmic vesicle;Cell membrane Insulin-like growth factor 1 resistance 1 PE1 NX_P08100 38893 348 6.21 3 Photoreceptor outer segment;Cell membrane;Membrane Retinitis pigmentosa 4;Night blindness, congenital stationary, autosomal dominant 1 7 PE1 NX_P08118 12865 114 5.36 10 Secreted Prostate cancer, hereditary, 13 0 PE1 NX_P08123 129314 1366 9.08 7 Endoplasmic reticulum;Extracellular matrix Osteogenesis imperfecta 4;Osteogenesis imperfecta 3;Osteogenesis imperfecta 2;Osteogenesis imperfecta 1;Ehlers-Danlos syndrome, arthrochalasia type, 2;Ehlers-Danlos syndrome, cardiac valvular type 0 PE1 NX_P08133 75873 673 5.42 5 Cytoplasm;Melanosome NA 0 PE1 NX_P08134 22006 193 6.2 1 Cell membrane;Cleavage furrow NA 0 PE1 NX_P08138 45183 427 4.59 17 Nucleoplasm;Cell membrane;Membrane NA 1 PE1 NX_P08151 117904 1106 6.98 12 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_P08172 51715 466 9.07 7 Postsynaptic cell membrane;Cell membrane Major depressive disorder 7 PE1 NX_P08173 53049 479 9.87 11 Nucleus;Postsynaptic cell membrane;Golgi apparatus;Cell membrane NA 7 PE1 NX_P08174 41400 381 7.79 1 Cytoplasmic vesicle;Midbody ring;Cell membrane;Secreted Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 0 PE1 NX_P08183 141479 1280 9.06 7 Cytosol;Nucleoplasm;Focal adhesion;Cell membrane Inflammatory bowel disease 13 12 PE1 NX_P08185 45141 405 5.64 14 Secreted Corticosteroid-binding globulin deficiency 0 PE1 NX_P08195 67994 630 4.89 11 Cytosol;Nucleus;Apical cell membrane;Melanosome;Cell membrane NA 1 PE1 NX_P08217 28888 269 8.8 1 Secreted NA 0 PE1 NX_P08218 28810 269 6.48 1 Secreted NA 0 PE1 NX_P08235 107082 984 7.22 4 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Nucleoplasm Pseudohypoaldosteronism 1, autosomal dominant;Early-onset hypertension with severe exacerbation in pregnancy 0 PE1 NX_P08236 74732 651 6.54 7 Cytoplasmic vesicle;Lysosome Mucopolysaccharidosis 7 0 PE1 NX_P08237 85183 780 8.23 12 Cytoplasm;Endoplasmic reticulum Glycogen storage disease 7 0 PE1 NX_P08238 83264 724 4.97 6 Cytoplasm;Nucleus;Melanosome;Cell membrane;Secreted NA 0 PE1 NX_P08240 69811 638 9.07 11 Endoplasmic reticulum membrane NA 0 PE1 NX_P08243 64370 561 6.39 7 Cytosol Asparagine synthetase deficiency 0 PE1 NX_P08246 28518 267 9.71 19 NA Cyclic haematopoiesis;Neutropenia, severe congenital 1, autosomal dominant 0 PE1 NX_P08247 33845 313 4.66 X Synaptosome;Synaptic vesicle membrane Mental retardation, X-linked 96 4 PE1 NX_P08253 73882 660 5.26 16 Extracellular matrix;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Membrane;Mitochondrion Multicentric osteolysis, nodulosis, and arthropathy 0 PE1 NX_P08254 53977 477 5.77 11 Cytoplasmic vesicle;Extracellular matrix Coronary heart disease 6 0 PE1 NX_P08263 25631 222 8.91 6 Cytoplasm NA 0 PE1 NX_P08294 25851 240 6.13 4 Extracellular space NA 0 PE1 NX_P08311 28837 255 11.19 14 Cell surface NA 0 PE1 NX_P08319 40222 380 8.25 4 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P08397 39330 361 6.68 11 Cytoplasm;Lipid droplet Acute intermittent porphyria 0 PE1 NX_P08473 85514 750 5.54 3 Cell membrane Charcot-Marie-Tooth disease 2T;Spinocerebellar ataxia 43 1 PE1 NX_P08476 47442 426 8.3 7 Secreted NA 0 PE1 NX_P08493 12353 103 9.71 12 Secreted Keutel syndrome 0 PE1 NX_P08514 113377 1039 5.21 17 Membrane Bleeding disorder, platelet-type 16;Glanzmann thrombasthenia 1 PE1 NX_P08519 501319 4548 5.58 6 NA NA 0 PE1 NX_P08559 43296 390 8.35 X Mitochondrion matrix Pyruvate dehydrogenase E1-alpha deficiency 0 PE1 NX_P08567 40125 350 8.51 2 Nucleolus NA 0 PE1 NX_P08571 40076 375 5.84 5 Cytoplasmic vesicle;Cell membrane;Membrane raft;Golgi apparatus;Secreted NA 0 PE1 NX_P08572 167553 1712 8.89 13 Cytoplasmic vesicle;Basement membrane Intracerebral hemorrhage;Porencephaly 2 0 PE1 NX_P08574 35422 325 9.15 8 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 6 1 PE1 NX_P08575 147486 1306 5.77 1 Membrane raft;Cell membrane Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive;Multiple sclerosis 1 PE1 NX_P08579 25486 225 9.72 20 Nucleus speckle;Nucleus NA 0 PE1 NX_P08581 155541 1390 7.02 7 Cytosol;Secreted;Cell membrane;Membrane Deafness, autosomal recessive, 97;Hepatocellular carcinoma;Osteofibrous dysplasia;Renal cell carcinoma papillary 1 PE1 NX_P08582 80215 738 5.61 3 Cell membrane NA 0 PE1 NX_P08588 51323 477 9.23 10 Cell membrane;Early endosome NA 7 PE1 NX_P08590 21932 195 5.03 3 Mitochondrion;Nucleolus Cardiomyopathy, familial hypertrophic 8 0 PE1 NX_P08603 139096 1231 6.21 1 Secreted Complement factor H deficiency;Hemolytic uremic syndrome atypical 1;Basal laminar drusen;Macular degeneration, age-related, 4 0 PE1 NX_P08620 22048 206 9.73 11 Secreted NA 0 PE1 NX_P08621 51557 437 9.94 19 Nucleoplasm;Nucleus speckle NA 0 PE1 NX_P08631 59600 526 6.27 20 Podosome membrane;Golgi apparatus;Lysosome;Nucleoplasm;Secretory vesicle;Cell membrane;Cytoplasmic vesicle;Cytosol;Focal adhesion;Nucleus;Membrane;Caveola;Cytoskeleton NA 0 PE1 NX_P08637 29089 254 8.2 1 Cell membrane;Secreted Immunodeficiency 20 1 PE1 NX_P08648 114536 1049 5.5 12 Cell surface;Focal adhesion;Membrane NA 1 PE1 NX_P08651 55675 508 8.62 19 Nucleolus;Nucleus NA 0 PE1 NX_P08670 53652 466 5.06 10 Cytoplasm;Cytoskeleton;Nucleus matrix;Golgi apparatus;Cell membrane Cataract 30, multiple types 0 PE1 NX_P08684 57343 503 8.27 7 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_P08686 55887 494 7.71 6 Endoplasmic reticulum membrane;Microsome membrane Adrenal hyperplasia 3 0 PE1 NX_P08697 54566 491 5.87 17 Cytoplasmic vesicle;Nucleoplasm;Secreted Alpha-2-plasmin inhibitor deficiency 0 PE1 NX_P08700 17233 152 8.69 5 Secreted NA 0 PE1 NX_P08708 15550 135 9.85 15 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum Diamond-Blackfan anemia 4 0 PE1 NX_P08709 51594 466 6.92 13 Mitochondrion;Secreted Factor VII deficiency 0 PE1 NX_P08727 44106 400 5.05 17 Cytoskeleton NA 0 PE1 NX_P08729 51386 469 5.4 12 Cytoplasm NA 0 PE1 NX_P08754 40532 354 5.5 1 Cytoplasm;Centrosome;Cell membrane;Membrane Auriculocondylar syndrome 1 0 PE1 NX_P08758 35937 320 4.94 4 Cytoplasm;Nucleus;Nucleus membrane Pregnancy loss, recurrent, 3 0 PE1 NX_P08779 51268 473 4.98 17 NA Keratoderma, palmoplantar, non-epidermolytic, focal 1;Pachyonychia congenita 1 0 PE1 NX_P08833 27904 259 5.11 7 Golgi apparatus;Secreted NA 0 PE1 NX_P08842 65492 583 7.6 X Endoplasmic reticulum membrane Ichthyosis, X-linked 2 PE1 NX_P08861 29263 270 5.85 1 NA NA 0 PE1 NX_P08865 32854 295 4.79 3 Cytosol;Cytoplasm;Nucleus;Cell membrane Asplenia, isolated congenital 0 PE1 NX_P08887 51548 468 8.56 1 Basolateral cell membrane;Secreted NA 1 PE1 NX_P08908 46107 422 9.13 5 Cell membrane Periodic fever, menstrual cycle-dependent 7 PE1 NX_P08910 48315 425 6.24 15 Cytosol;Nucleoplasm;Flagellum membrane;Cell membrane NA 1 PE1 NX_P08912 60074 532 9.39 15 Postsynaptic cell membrane;Cell membrane NA 7 PE2 NX_P08913 48957 450 9.8 10 Cell membrane NA 7 PE1 NX_P08922 263915 2347 5.76 6 Cytoplasmic vesicle;Cell membrane NA 1 PE1 NX_P08949 13252 121 11.87 15 Cytoplasmic vesicle;Nucleus;Cell membrane;Secreted NA 0 PE1 NX_P08962 25637 238 8.14 12 Lysosome membrane;Melanosome;Lysosome;Cytoplasm;Late endosome membrane;Cell membrane;Cytoplasmic vesicle;Nucleus;Multivesicular body;Cell surface;Exosome NA 4 PE1 NX_P08F94 446702 4074 6.12 6 Cytoplasm;Cell membrane;Spindle;Centromere;Cilium;Cilium basal body Polycystic kidney disease 4, with or without polycystic liver disease 1 PE1 NX_P09001 38633 348 9.52 3 Mitochondrion Combined oxidative phosphorylation deficiency 9 0 PE1 NX_P09012 31280 282 9.83 19 Nucleoplasm;Nucleus NA 0 PE1 NX_P09016 27885 255 9.44 2 Nucleus;Cell junction NA 0 PE1 NX_P09017 29811 264 9.24 12 Nucleus NA 0 PE1 NX_P09038 30770 288 11.18 4 Nucleoplasm;Nucleus;Secreted NA 0 PE1 NX_P09067 29434 269 9.1 17 Nucleus NA 0 PE1 NX_P09086 51209 479 8.6 19 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_P09093 29489 270 6.43 1 NA NA 0 PE1 NX_P09104 47269 434 4.91 12 Cytoplasm;Cell membrane NA 0 PE1 NX_P09105 15508 142 7.09 16 Lipid droplet NA 0 PE1 NX_P09110 44292 424 8.76 3 Peroxisome NA 0 PE1 NX_P09131 50333 477 7.65 X Cytoskeleton;Endoplasmic reticulum;Membrane NA 8 PE1 NX_P09132 16156 144 9.87 5 Cytoplasm NA 0 PE1 NX_P09172 69065 617 5.97 9 Secreted;Endoplasmic reticulum;Secretory vesicle lumen;Cytoplasmic vesicle;Chromaffin granule lumen;Chromaffin granule membrane;Secretory vesicle membrane Dopamine beta-hydroxylase deficiency 1 PE1 NX_P09210 25664 222 8.51 6 Cytoplasm NA 0 PE1 NX_P09211 23356 210 5.43 11 Mitochondrion;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_P09228 16445 141 4.85 20 Secreted NA 0 PE1 NX_P09234 17394 159 9.72 6 Nucleus NA 0 PE1 NX_P09237 29677 267 7.73 11 Cytoplasmic vesicle;Nucleoplasm;Extracellular matrix NA 0 PE1 NX_P09238 54151 476 5.49 11 Cytosol;Cell membrane;Extracellular matrix NA 0 PE1 NX_P09326 27683 243 8.34 1 Cytosol;Nucleolus;Cell membrane NA 0 PE1 NX_P09327 92695 827 5.99 2 Ruffle;Microvillus;Filopodium tip;Cell membrane;Filopodium;Lamellipodium;Cytoskeleton NA 0 PE1 NX_P09341 11301 107 10.46 4 Secreted NA 0 PE1 NX_P09382 14716 135 5.33 22 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Extracellular matrix NA 0 PE1 NX_P09417 25790 244 6.9 4 Mitochondrion Hyperphenylalaninemia, BH4-deficient, C 0 PE1 NX_P09429 24894 215 5.62 13 Endoplasmic reticulum-Golgi intermediate compartment;Endosome;Secreted;Cytoplasm;Cell membrane;Nucleus;Chromosome NA 0 PE1 NX_P09430 6424 55 12.09 2 Nucleus;Chromosome NA 0 PE1 NX_P09455 15850 135 4.99 3 Nucleoplasm;Cytoplasm;Lipid droplet;Cytosol NA 0 PE1 NX_P09466 20624 180 5.36 9 Secreted NA 0 PE1 NX_P09467 36842 338 6.54 9 Mitochondrion Fructose-1,6-bisphosphatase deficiency 0 PE1 NX_P09471 40051 354 5.34 16 Cell membrane;Membrane Neurodevelopmental disorder with involuntary movements;Epileptic encephalopathy, early infantile, 17 0 PE1 NX_P09486 34632 303 4.73 5 Basement membrane Osteogenesis imperfecta 17 0 PE1 NX_P09488 25712 218 6.24 1 Cytoplasm NA 0 PE1 NX_P09493 32709 284 4.69 15 Cytoplasm;Cytoskeleton Left ventricular non-compaction 9;Cardiomyopathy, dilated 1Y;Cardiomyopathy, familial hypertrophic 3 0 PE1 NX_P09496 27077 248 4.43 9 Endosome;Lysosome;Cytoplasmic vesicle;Coated pit;Spindle;Cytoplasmic vesicle membrane NA 0 PE1 NX_P09497 25190 229 4.57 5 Cytosol;Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Coated pit;Cell membrane NA 0 PE1 NX_P09525 35883 319 5.84 2 Cytosol NA 0 PE1 NX_P09529 45122 407 8.35 2 Secreted NA 0 PE1 NX_P09543 47579 421 9.17 17 Cytosol;Nucleus;Melanosome;Membrane NA 0 PE1 NX_P09544 40418 360 9.06 7 Cytoplasmic vesicle;Secreted;Extracellular matrix NA 0 PE1 NX_P09564 25409 240 6.87 17 Membrane NA 1 PE1 NX_P09565 12087 113 9.65 11 NA NA 0 PE1 NX_P09601 32819 288 7.89 22 Endoplasmic reticulum membrane;Golgi apparatus;Microsome;Cell membrane Heme oxygenase 1 deficiency 0 PE1 NX_P09603 60179 554 5.16 1 Extracellular space;Cell membrane NA 1 PE1 NX_P09619 123968 1106 4.88 5 Cytoplasmic vesicle;Lysosome lumen;Cell membrane;Golgi apparatus Myofibromatosis, infantile 1;Kosaki overgrowth syndrome;Leukemia, acute myelogenous;Leukemia, juvenile myelomonocytic;Premature aging syndrome, Penttinen type;Myeloproliferative disorder chronic with eosinophilia;Basal ganglia calcification, idiopathic, 4 1 PE1 NX_P09622 54177 509 7.95 7 Mitochondrion matrix;Nucleus;Mitochondrion;Flagellum;Acrosome Dihydrolipoamide dehydrogenase deficiency 0 PE1 NX_P09629 24015 217 8.83 17 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_P09630 26915 235 9.18 12 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_P09651 38747 372 9.17 12 Cytoplasm;Nucleus Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3;Amyotrophic lateral sclerosis 20 0 PE1 NX_P09661 28416 255 8.71 15 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_P09668 37394 335 8.35 15 Cytosol;Cytoplasmic vesicle;Lysosome NA 0 PE1 NX_P09669 8781 75 10.38 8 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 NX_P09681 17108 153 7.8 17 Secreted NA 0 PE1 NX_P09683 13016 121 11.27 11 Secreted NA 0 PE1 NX_P09693 20469 182 8.6 11 Cell membrane Immunodeficiency 17 1 PE1 NX_P09758 35709 323 9.14 1 Cytoplasmic vesicle;Nucleolus;Cell membrane;Membrane Corneal dystrophy, gelatinous drop-like 1 PE1 NX_P09769 59479 529 5.41 1 Cytosol;Cell membrane;Mitochondrion inner membrane;Ruffle membrane;Mitochondrion intermembrane space;Cytoskeleton NA 0 PE1 NX_P09848 218587 1927 5.9 2 Apical cell membrane Congenital lactase deficiency 1 PE1 NX_P09871 76684 688 4.86 12 Cytosol;Nucleus Complement component C1s deficiency;Ehlers-Danlos syndrome, periodontal type, 2 0 PE1 NX_P09874 113084 1014 8.99 1 Nucleolus;Nucleus NA 0 PE1 NX_P09884 165913 1462 5.61 X Cytosol;Nucleoplasm;Nucleus Pigmentary disorder, reticulate, with systemic manifestations, X-linked 0 PE1 NX_P09912 12927 130 5.27 1 Mitochondrion;Mitochondrion inner membrane NA 4 PE1 NX_P09913 54632 472 6.32 10 Cytoplasmic vesicle;Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_P09914 55360 478 6.75 10 Cytosol;Cytoplasm NA 0 PE1 NX_P09917 77983 674 5.51 10 Nucleoplasm;Cytoplasm;Nucleus matrix;Nucleus membrane NA 0 PE1 NX_P09919 22293 207 5.61 17 Secreted NA 0 PE1 NX_P09923 56812 528 5.53 2 Cell membrane NA 0 PE1 NX_P09936 24824 223 5.33 4 Cytosol;Cytoplasm;Endoplasmic reticulum membrane;Nucleoplasm Spastic paraplegia 79, autosomal recessive;Parkinson disease 5 0 PE1 NX_P09958 86678 794 6.01 15 trans-Golgi network membrane;Golgi apparatus;Secreted;Nucleoplasm;Cell membrane;Endosome membrane NA 1 PE1 NX_P09960 69285 611 5.8 12 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 NX_P09972 39456 364 6.41 17 Cytoplasmic vesicle;Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_P0C024 26942 238 6.55 16 Nucleoplasm;Golgi apparatus;Peroxisome NA 0 PE1 NX_P0C025 35923 328 6.2 1 Cytosol;Centrosome NA 0 PE1 NX_P0C091 238179 2139 5.14 4 Extracellular matrix NA 0 PE3 NX_P0C0E4 31239 278 9.64 X Mitochondrion;Cytoplasm;Membrane Mental retardation, X-linked, syndromic, Martin-Probst type 0 PE1 NX_P0C0L4 192785 1744 6.66 6 Axon;Dendrite;Synapse;Secreted Systemic lupus erythematosus;Complement component 4A deficiency 0 PE1 NX_P0C0L5 192751 1744 6.89 6 Axon;Dendrite;Synapse;Secreted Systemic lupus erythematosus;Complement component 4B deficiency 0 PE1 NX_P0C0P6 10103 89 10.3 10 Secreted NA 0 PE3 NX_P0C0S5 13553 128 10.58 4 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_P0C0S8 14091 130 10.9 6 Nucleus;Chromosome NA 0 PE1 NX_P0C1H6 17001 154 10.08 X Nucleus;Chromosome NA 0 PE1 NX_P0C1S8 62925 567 6.06 7 Nucleoplasm;Cytosol;Nucleus Oocyte maturation defect 5 0 PE1 NX_P0C1Z6 28278 253 5.19 19 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_P0C221 93626 793 6.34 14 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_P0C263 38088 348 5.3 19 NA NA 0 PE1 NX_P0C264 38488 359 4.71 19 Mitochondrion NA 0 PE1 NX_P0C2L3 18190 166 4.86 9 Cytosol;Nucleus;Cell membrane;Membrane NA 1 PE1 NX_P0C2S0 8980 81 4.36 15 Membrane NA 1 PE3 NX_P0C2W1 30633 286 8.01 3 Cytosol;Postsynaptic cell membrane;Presynaptic cell membrane NA 0 PE1 NX_P0C2W7 31319 299 4.11 X NA NA 0 PE1 NX_P0C2Y1 48090 421 4.73 1 Cytoplasm NA 0 PE5 NX_P0C5J1 36771 330 5.85 8 NA NA 0 PE1 NX_P0C5K6 3500 33 9.5 X NA NA 0 PE5 NX_P0C5K7 15412 136 9.08 15 NA NA 0 PE2 NX_P0C5Y4 12324 121 6.14 17 NA NA 0 PE2 NX_P0C5Y9 12697 115 10.67 X Nucleus;Chromosome NA 0 PE1 NX_P0C5Z0 12713 115 10.67 X Nucleus;Chromosome NA 0 PE1 NX_P0C604 35621 315 7.93 11 Cell membrane NA 7 PE3 NX_P0C617 36816 328 7.52 11 Cell membrane NA 7 PE3 NX_P0C623 34733 307 8.63 14 Cell membrane NA 7 PE3 NX_P0C626 35647 314 8.86 11 Cell membrane NA 7 PE3 NX_P0C628 34762 307 9.22 3 Cell membrane NA 7 PE3 NX_P0C629 34891 311 9.2 1 Cell membrane NA 7 PE3 NX_P0C645 35737 315 8.58 14 Cell membrane NA 7 PE3 NX_P0C646 33382 298 8.97 11 Cell membrane NA 7 PE3 NX_P0C671 71930 652 8.7 6 NA NA 0 PE1 NX_P0C672 28460 248 7.55 12 Membrane NA 3 PE5 NX_P0C6A0 29628 271 9.34 19 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P0C6C1 58256 535 9.15 15 Mitochondrion NA 0 PE3 NX_P0C6P0 11233 100 8.77 15 NA NA 0 PE5 NX_P0C6S8 64881 592 8.94 19 Mitochondrion;Membrane NA 1 PE1 NX_P0C6T2 4193 37 6.52 2 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 NX_P0C7A2 43591 387 4.71 5 NA NA 0 PE2 NX_P0C7H8 13480 128 8.32 17 NA NA 0 PE1 NX_P0C7H9 59751 530 8.09 8 Nucleus;Endoplasmic reticulum NA 0 PE3 NX_P0C7I0 59635 530 7.3 8 Nucleus;Endoplasmic reticulum NA 0 PE3 NX_P0C7I6 33695 297 5.64 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_P0C7L1 10821 97 4.9 3 Secreted NA 0 PE2 NX_P0C7M3 10526 94 6.81 14 Cytoplasm;Secreted NA 0 PE1 NX_P0C7M4 31637 288 4.52 X Nucleus NA 0 PE1 NX_P0C7M6 18251 154 10.51 3 NA NA 0 PE1 NX_P0C7M7 65703 580 8.84 12 Mitochondrion matrix NA 0 PE1 NX_P0C7M8 23927 214 6.83 7 Membrane NA 1 PE1 NX_P0C7N1 36334 319 8.77 11 Cell membrane NA 7 PE3 NX_P0C7N4 39065 346 8.39 22 Membrane NA 1 PE2 NX_P0C7N5 35054 309 8.4 11 Cell membrane NA 7 PE3 NX_P0C7N8 34020 305 8.1 11 Cell membrane NA 7 PE3 NX_P0C7P0 14216 127 10.56 17 Mitochondrion NA 0 PE1 NX_P0C7P1 55775 496 9.95 Y Nucleus NA 0 PE2 NX_P0C7P2 11739 107 10.07 22 NA NA 0 PE2 NX_P0C7P3 103907 912 8.57 17 Nucleus Bleeding disorder, platelet-type 20 0 PE1 NX_P0C7P4 30815 283 9.04 22 NA NA 0 PE5 NX_P0C7Q2 11437 107 9.03 10 Cytoplasm Macular degeneration, age-related, 8 0 PE1 NX_P0C7Q5 35378 338 6.77 18 Membrane NA 7 PE5 NX_P0C7Q6 35103 338 6.11 17 Membrane NA 9 PE2 NX_P0C7T2 34287 308 8.56 1 Cell membrane NA 7 PE3 NX_P0C7T3 35317 313 9.02 11 Cell membrane NA 7 PE3 NX_P0C7T4 6023 53 5.01 18 NA NA 0 PE1 NX_P0C7T5 73306 689 6.13 16 Dendrite;Nucleus NA 0 PE1 NX_P0C7T7 38799 363 11.74 14 NA NA 0 PE5 NX_P0C7T8 23522 217 6.71 14 Membrane NA 4 PE2 NX_P0C7U0 90477 828 8.67 7 Nucleoplasm;Dendrite;Cell junction;Membrane NA 1 PE1 NX_P0C7U1 19025 165 9.1 10 NA NA 0 PE2 NX_P0C7U3 41895 371 8.88 5 Membrane NA 5 PE3 NX_P0C7U9 31739 286 10.05 8 Membrane NA 2 PE2 NX_P0C7V0 29146 271 11.35 6 NA NA 0 PE5 NX_P0C7V4 49895 464 9.95 8 NA NA 0 PE5 NX_P0C7V6 87541 817 9.02 X NA NA 0 PE5 NX_P0C7V7 19160 166 9.66 8 Membrane NA 1 PE5 NX_P0C7V8 71191 631 4.64 X NA NA 0 PE1 NX_P0C7V9 26716 234 5.61 3 NA NA 0 PE5 NX_P0C7W0 20715 189 4.83 17 NA NA 0 PE2 NX_P0C7W6 31035 258 5.01 10 Cytoplasm;Cilium NA 0 PE1 NX_P0C7W8 49853 464 9.95 8 NA NA 0 PE5 NX_P0C7W9 49953 464 9.9 8 NA NA 0 PE5 NX_P0C7X0 49829 464 9.95 8 NA NA 0 PE5 NX_P0C7X1 62219 549 9.2 17 Cell membrane NA 0 PE2 NX_P0C7X2 30575 276 9.42 16 Nucleoplasm;Nucleus;Cell junction;Cell membrane NA 0 PE1 NX_P0C7X3 39078 344 7.28 16 NA NA 0 PE3 NX_P0C7X4 22644 201 6.65 X NA NA 0 PE5 NX_P0C7X5 67808 589 8.76 2 Nucleus NA 0 PE3 NX_P0C841 5233 47 6.01 8 NA NA 0 PE5 NX_P0C842 13547 121 4.49 10 NA NA 0 PE5 NX_P0C843 12082 101 10.05 9 NA NA 0 PE5 NX_P0C851 15334 137 9.86 17 Cytosol;Cell membrane;Membrane NA 2 PE2 NX_P0C853 11579 105 5.82 8 NA NA 0 PE5 NX_P0C854 23602 216 10.5 22 Secreted NA 0 PE5 NX_P0C860 51070 447 8.6 2 Nucleus NA 0 PE5 NX_P0C862 34681 333 8.59 13 Secreted NA 0 PE1 NX_P0C864 16785 163 10.29 4 NA NA 0 PE5 NX_P0C866 30847 280 5.49 1 NA NA 0 PE5 NX_P0C869 87978 781 5.64 15 Cytosol;Early endosome membrane;Mitochondrion membrane NA 0 PE1 NX_P0C870 35932 316 5.22 15 NA NA 0 PE1 NX_P0C874 102419 917 8.32 9 Membrane NA 1 PE2 NX_P0C875 38070 324 8.89 2 Golgi apparatus NA 0 PE1 NX_P0C879 14498 139 12 10 NA NA 0 PE5 NX_P0C880 14177 135 11.84 20 NA NA 0 PE5 NX_P0C881 100635 870 7.16 7 NA NA 0 PE2 NX_P0C8F1 11407 98 8.97 11 Acrosome;Secreted NA 0 PE1 NX_P0CAP1 54206 466 5.91 15 I band;Cytoskeleton;Z line;Cell junction;Cell membrane NA 0 PE1 NX_P0CAP2 41740 368 6.01 15 Nucleus;Nucleus envelope NA 0 PE1 NX_P0CAT3 13375 122 10.82 10 NA NA 0 PE5 NX_P0CB33 47565 412 9.31 7 Nucleus NA 0 PE5 NX_P0CB38 41854 370 9.53 4 NA NA 0 PE1 NX_P0CB47 46134 393 9.52 11 Cytoplasm;Nucleus NA 0 PE3 NX_P0CB48 46551 400 9.11 2 Nucleus NA 0 PE5 NX_P0CE67 11337 100 9.02 3 NA NA 0 PE4 NX_P0CE71 12129 109 4.11 7 NA NA 0 PE5 NX_P0CE72 12184 109 4.19 7 NA NA 0 PE1 NX_P0CF51 19804 173 7.7 7 Cell membrane NA 1 PE1 NX_P0CF74 11277 106 6.91 22 Cell membrane;Secreted NA 0 PE1 NX_P0CF75 40313 366 7 10 NA NA 0 PE2 NX_P0CF97 76034 657 8.33 4 NA NA 0 PE2 NX_P0CG00 56244 497 8.95 11 Nucleus NA 0 PE5 NX_P0CG01 20221 181 8.64 2 Secreted NA 0 PE3 NX_P0CG04 11348 106 7.89 22 Cell membrane;Secreted NA 0 PE1 NX_P0CG08 52917 455 9.34 1 Golgi apparatus membrane;Endoplasmic reticulum NA 9 PE1 NX_P0CG12 51391 524 12.42 16 Nucleoplasm;Nucleus NA 0 PE1 NX_P0CG13 13314 121 7.9 16 Nucleus NA 0 PE1 NX_P0CG20 59354 571 9.16 16 NA NA 0 PE2 NX_P0CG21 12631 123 4.78 16 NA NA 0 PE2 NX_P0CG22 30608 281 9.81 14 NA NA 0 PE5 NX_P0CG23 74878 659 5.19 7 Nucleolus NA 0 PE1 NX_P0CG24 43967 379 9.03 9 Nucleus NA 0 PE2 NX_P0CG29 27506 244 6.53 22 Cytoplasm NA 0 PE1 NX_P0CG30 27507 244 5.99 22 Cytoplasm NA 0 PE1 NX_P0CG31 59572 522 8.7 17 Cytosol;Nucleus speckle;Nucleus NA 0 PE5 NX_P0CG32 45160 403 7.02 X NA NA 0 PE3 NX_P0CG33 79896 693 5.37 15 NA NA 0 PE2 NX_P0CG34 5229 45 5.31 X Cytoskeleton NA 0 PE1 NX_P0CG35 5229 45 5.31 X Cytoskeleton NA 0 PE1 NX_P0CG36 24642 223 9.04 2 Secreted NA 0 PE3 NX_P0CG37 24612 223 9.14 2 Cell membrane;Secreted Heterotaxy, visceral, 2, autosomal 0 PE1 NX_P0CG38 121282 1075 5.83 2 NA NA 0 PE1 NX_P0CG39 117390 1038 5.66 2 NA NA 0 PE1 NX_P0CG40 48915 484 9.05 2 Mitochondrion;Nucleus NA 0 PE1 NX_P0CG41 88077 777 5.23 7 Membrane NA 1 PE2 NX_P0CG42 43129 384 11.41 9 NA NA 0 PE3 NX_P0CG43 43408 387 11.19 16 NA NA 0 PE3 NX_P0CG47 25762 229 6.86 17 Cytoplasm;Nucleus NA 0 PE1 NX_P0CG48 77039 685 7.16 12 Cytoplasm;Nucleus NA 0 PE1 NX_P0CH98 18676 169 5.62 17 NA NA 0 PE5 NX_P0CH99 34712 300 9.14 8 Nucleus NA 0 PE2 NX_P0CI00 34732 300 9.08 8 Nucleus NA 0 PE5 NX_P0CI01 48330 402 9.78 7 NA NA 0 PE3 NX_P0CI25 52888 452 7.53 11 NA NA 0 PE2 NX_P0CI26 52933 452 7.28 11 NA NA 0 PE2 NX_P0CJ68 2691 24 9.49 17 Cytoplasm;Secreted NA 0 PE2 NX_P0CJ69 3081 28 7.98 5 Cytoplasm;Secreted NA 0 PE2 NX_P0CJ70 2796 24 10.69 20 Cytoplasm;Secreted NA 0 PE2 NX_P0CJ71 3247 28 9.19 16 Cytoplasm;Secreted NA 0 PE2 NX_P0CJ72 2666 24 7.98 10 Cytoplasm;Secreted NA 0 PE2 NX_P0CJ73 2719 24 9.49 7 Cytoplasm;Secreted NA 0 PE2 NX_P0CJ74 2647 24 7.98 10 Cytoplasm;Secreted NA 0 PE2 NX_P0CJ75 2661 24 9.49 11 Cytoplasm;Secreted NA 0 PE2 NX_P0CJ76 2694 24 11.54 6 Cytoplasm;Secreted NA 0 PE2 NX_P0CJ77 2806 24 10.69 X Cytoplasm;Secreted NA 0 PE2 NX_P0CJ78 111077 1059 9.4 19 Nucleolus;Nucleus NA 0 PE1 NX_P0CJ79 83549 718 9.33 19 Nucleus NA 0 PE1 NX_P0CJ85 44926 424 8.72 4 Nucleus NA 0 PE3 NX_P0CJ86 44926 424 8.72 4 Nucleus NA 0 PE3 NX_P0CJ87 44826 422 8.36 4 Nucleus NA 0 PE3 NX_P0CJ88 44926 424 8.72 4 Nucleus NA 0 PE3 NX_P0CJ89 44926 424 8.72 4 Nucleus NA 0 PE3 NX_P0CJ90 44926 424 8.72 4 Nucleus NA 0 PE3 NX_P0CJ92 71342 632 8.15 15 NA NA 0 PE3 NX_P0CK96 43777 405 8.65 1 Membrane NA 10 PE1 NX_P0CK97 29079 266 8.28 1 Nucleus;Membrane NA 4 PE2 NX_P0CL80 12978 117 4.3 X NA NA 0 PE3 NX_P0CL81 12978 117 4.3 X NA NA 0 PE3 NX_P0CL82 12978 117 4.3 X NA NA 0 PE1 NX_P0CL83 23775 205 7.61 7 Nucleus NA 0 PE5 NX_P0CL84 15630 134 8.27 7 Nucleus NA 0 PE5 NX_P0CL85 15609 134 7.57 7 Nucleus NA 0 PE2 NX_P0CV98 35101 308 5.23 Y NA NA 0 PE3 NX_P0CV99 35727 314 5.12 Y NA NA 0 PE2 NX_P0CW00 35147 308 5.16 Y NA NA 0 PE3 NX_P0CW01 35101 308 5.23 Y NA NA 0 PE3 NX_P0CW18 64597 603 9.15 2 NA Microphthalmia, isolated, 6 0 PE1 NX_P0CW19 13251 117 5.38 2 Cytoplasm NA 0 PE2 NX_P0CW20 13251 117 5.38 2 NA NA 0 PE1 NX_P0CW21 6167 52 9.69 13 NA NA 0 PE5 NX_P0CW23 7848 69 6.73 18 NA NA 0 PE1 NX_P0CW24 43875 399 5.24 X Mitochondrion;Nucleolus NA 0 PE1 NX_P0CW27 48709 439 10.6 8 NA NA 0 PE1 NX_P0CZ25 17537 163 9.57 12 NA NA 0 PE2 NX_P0DH78 16549 156 7.43 9 NA NA 0 PE4 NX_P0DI80 7017 62 3.72 17 Nucleus;Membrane NA 1 PE2 NX_P0DI81 16445 140 6.02 X Endoplasmic reticulum-Golgi intermediate compartment;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Perinuclear region;Nucleus Spondyloepiphyseal dysplasia tarda 0 PE1 NX_P0DI82 16445 140 6.02 19 Endoplasmic reticulum-Golgi intermediate compartment;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Perinuclear region;Nucleus NA 0 PE1 NX_P0DI83 21118 198 12.15 17 Nucleolus;Nucleus NA 0 PE1 NX_P0DJ07 9114 73 6.31 19 Nucleoplasm;Mitochondrion;Membrane NA 1 PE1 NX_P0DJ93 10351 91 6.17 6 Nucleus;Nucleus membrane;Golgi apparatus;Membrane NA 1 PE1 NX_P0DJD0 196662 1748 5.8 2 NA NA 0 PE2 NX_P0DJD1 197308 1756 5.85 2 NA NA 0 PE1 NX_P0DJD3 55784 496 9.95 Y Nucleus NA 0 PE1 NX_P0DJD4 55784 496 9.93 Y Nucleus NA 0 PE1 NX_P0DJD7 41977 388 4.16 11 Secreted NA 0 PE1 NX_P0DJD8 41976 388 4.22 11 Secreted NA 0 PE1 NX_P0DJD9 41993 388 4.21 11 Secreted NA 0 PE1 NX_P0DJG4 53028 465 9.33 4 NA NA 0 PE1 NX_P0DJH9 23209 198 5.98 14 NA NA 0 PE2 NX_P0DJI8 13532 122 6.28 11 Secreted NA 0 PE1 NX_P0DJI9 13527 122 9.2 11 Secreted NA 0 PE1 NX_P0DJJ0 53484 459 5.98 1 NA NA 0 PE1 NX_P0DJR0 24463 217 8.18 4 NA NA 0 PE2 NX_P0DKB5 40400 382 8.64 11 Membrane NA 1 PE1 NX_P0DKB6 15138 136 9.95 X Membrane NA 2 PE1 NX_P0DKL9 17712 152 8.71 5 NA NA 0 PE4 NX_P0DKV0 130522 1188 9.52 9 Membrane NA 1 PE5 NX_P0DKX0 71801 622 9.32 19 NA NA 0 PE2 NX_P0DKX4 11088 95 6.7 8 Nucleus;Centrosome;Membrane NA 1 PE2 NX_P0DL12 13332 118 4.56 19 Cytoplasmic vesicle;Membrane NA 1 PE4 NX_P0DM35 6094 61 8.75 1 NA NA 0 PE3 NX_P0DM63 42230 369 9.22 16 NA NA 0 PE2 NX_P0DMB1 31050 279 6.08 8 NA NA 0 PE2 NX_P0DMB2 13372 117 9.81 8 NA NA 0 PE1 NX_P0DMC3 6622 54 12.22 4 Extracellular space;Secreted NA 0 PE1 NX_P0DME0 34882 302 4.2 1 Cytoplasm;Nucleus NA 0 PE1 NX_P0DML2 25020 217 5.34 17 Secreted NA 0 PE1 NX_P0DML3 24994 217 5.34 17 Secreted NA 0 PE1 NX_P0DMM9 34196 295 5.68 16 Cytoplasm NA 0 PE1 NX_P0DMN0 34196 295 5.68 16 Cytoplasm NA 0 PE1 NX_P0DMP1 2961 27 9.49 3 Cytoplasm;Secreted NA 0 PE2 NX_P0DMP2 53406 458 6.46 1 NA NA 0 PE2 NX_P0DMQ5 15439 153 9.3 15 Membrane NA 1 PE1 NX_P0DMQ9 18160 161 9.49 8 NA NA 0 PE2 NX_P0DMR1 32029 293 5.48 1 Nucleus NA 0 PE1 NX_P0DMR2 10457 95 4.7 17 Secreted NA 0 PE3 NX_P0DMR3 22759 200 8.47 13 Cytoplasm NA 0 PE5 NX_P0DMS8 36185 318 9.11 1 Cell membrane NA 7 PE1 NX_P0DMS9 30327 266 8.9 1 Membrane NA 2 PE1 NX_P0DMT0 5194 46 5.97 10 Sarcoplasmic reticulum membrane NA 1 PE2 NX_P0DMU2 34506 310 7.57 11 Cell membrane NA 7 PE5 NX_P0DMU3 18266 169 8.91 1 NA NA 0 PE3 NX_P0DMU4 18266 169 8.91 1 NA NA 0 PE5 NX_P0DMU5 18266 169 8.91 1 NA NA 0 PE3 NX_P0DMU7 21232 189 9.72 X NA NA 0 PE2 NX_P0DMU8 21232 189 9.72 X NA NA 0 PE2 NX_P0DMU9 21145 189 9.61 X NA NA 0 PE1 NX_P0DMV0 21232 189 9.72 X NA NA 0 PE3 NX_P0DMV1 21363 189 9.67 X NA NA 0 PE3 NX_P0DMV2 21363 189 9.67 X NA NA 0 PE3 NX_P0DMV8 70052 641 5.48 6 Cytoplasm;Nucleus;Centrosome NA 0 PE1 NX_P0DMV9 70052 641 5.48 6 Cytoplasm;Centrosome NA 0 PE1 NX_P0DMW2 4993 45 5.92 X Cytoplasm;Nucleus NA 0 PE2 NX_P0DMW3 7391 68 10.02 12 NA NA 0 PE1 NX_P0DMW4 8389 78 11.25 X NA NA 0 PE2 NX_P0DMW5 8389 78 11.25 X NA NA 0 PE2 NX_P0DN24 10933 101 7.77 3 NA NA 0 PE1 NX_P0DN25 36396 315 5.41 2 Membrane NA 1 PE2 NX_P0DN26 18197 164 9.43 1 Cytoplasm NA 0 PE3 NX_P0DN37 18166 164 9.19 1 Cytoplasm NA 0 PE3 NX_P0DN76 27872 240 9.09 21 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_P0DN77 40584 364 8.9 X Cell membrane NA 7 PE3 NX_P0DN78 40584 364 8.9 X Cell membrane NA 7 PE3 NX_P0DN79 60587 551 6.2 21 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P0DN80 34772 308 7.05 3 Cell membrane NA 7 PE3 NX_P0DN81 34899 318 9.01 9 Cell membrane NA 7 PE3 NX_P0DN82 35330 309 9.29 6 Cell membrane NA 7 PE3 NX_P0DN84 3765 34 6.5 3 Sarcoplasmic reticulum membrane NA 1 PE2 NX_P0DN86 17739 165 8.49 19 Secreted NA 0 PE1 NX_P0DN87 17757 165 8.66 19 Secreted NA 0 PE2 NX_P0DO92 9002 83 8.53 16 NA NA 0 PE4 NX_P0DO97 32479 292 4.98 5 NA NA 0 PE1 NX_P0DOY2 11294 106 6.91 22 Cell membrane;Secreted NA 0 PE1 NX_P0DOY3 11266 106 6.91 22 Cell membrane;Secreted NA 0 PE1 NX_P0DOY5 435 5 5.53 14 Cell membrane;Secreted NA 0 PE4 NX_P0DP01 12992 117 9.26 14 Cell membrane;Secreted NA 0 PE1 NX_P0DP02 12989 117 9.12 14 Cell membrane;Secreted NA 0 PE3 NX_P0DP03 12947 117 9.1 14 Cell membrane;Secreted NA 0 PE3 NX_P0DP04 13017 118 5.28 14 Cell membrane;Secreted NA 0 PE3 NX_P0DP06 13156 118 9.33 14 Cell membrane;Secreted NA 0 PE3 NX_P0DP07 13095 118 9.33 14 Cell membrane;Secreted NA 0 PE1 NX_P0DP08 13016 117 9.36 14 Cell membrane;Secreted NA 0 PE1 NX_P0DP09 12569 117 7.68 2 Cell membrane;Secreted NA 0 PE1 NX_P0DP23 16838 149 4.09 14 Spindle;Spindle pole;Centrosome Long QT syndrome 14;Ventricular tachycardia, catecholaminergic polymorphic, 4 0 PE1 NX_P0DP24 16838 149 4.09 2 Spindle;Spindle pole;Centrosome Long QT syndrome 15 0 PE1 NX_P0DP25 16838 149 4.09 19 Spindle;Spindle pole;Centrosome NA 0 PE1 NX_P0DP42 25027 221 5.35 7 Membrane NA 4 PE1 NX_P0DP57 10160 97 6.14 8 Secreted NA 0 PE1 NX_P0DP58 12641 116 8.04 8 Dendrite;Endoplasmic reticulum;Cell membrane NA 0 PE1 NX_P0DP71 8682 79 8.8 X NA NA 0 PE3 NX_P0DP72 81629 767 5.95 11 Membrane NA 1 PE2 NX_P0DP73 8736 79 9.47 8 Secreted NA 0 PE2 NX_P0DP74 8736 79 9.47 8 Secreted NA 0 PE2 NX_P0DP75 14289 135 12.24 X NA NA 0 PE5 NX_P0DP91 119487 1061 6.15 10 Nucleus Premature ovarian failure 11 0 PE1 NX_P0DPA2 43891 414 6.84 1 Membrane NA 1 PE1 NX_P0DPA3 25086 235 9.42 1 Nucleoplasm NA 0 PE5 NX_P0DPB3 53480 487 4.98 3 Cytoplasm NA 0 PE1 NX_P0DPB5 14332 122 9.88 13 Nucleoplasm;Golgi apparatus NA 0 PE1 NX_P0DPB6 15237 133 5.55 13 Nucleus Treacher Collins syndrome 2 0 PE1 NX_P0DPD5 59152 513 9.39 19 Nucleus NA 0 PE3 NX_P0DPD6 91211 811 5.19 3 Golgi apparatus membrane;Secretory vesicle membrane NA 1 PE1 NX_P0DPD7 28306 255 5.65 3 NA NA 0 PE1 NX_P0DPD8 99773 883 4.98 3 Golgi apparatus membrane;Secretory vesicle membrane NA 1 PE1 NX_P0DPE3 33577 317 9.29 12 Membrane NA 1 PE3 NX_P0DPE8 15007 139 8.6 21 Membrane NA 1 PE2 NX_P0DPF2 595733 5207 4.55 1 Cytoplasm NA 0 PE2 NX_P0DPF3 127756 1111 4.71 1 Cytoplasm NA 0 PE2 NX_P0DPF4 12305 110 4.64 14 Cell membrane NA 0 PE3 NX_P0DPF5 21517 203 5.13 2 NA NA 0 PE2 NX_P0DPF6 22074 209 4.78 2 NA NA 0 PE2 NX_P0DPF7 12525 114 8.38 7 Cell membrane NA 0 PE1 NX_P0DPH7 49960 450 4.98 13 Cytoskeleton NA 0 PE1 NX_P0DPH8 49960 450 4.98 2 Cytoskeleton Keratoconus 9 0 PE1 NX_P0DPH9 12028 108 10.8 X NA NA 0 PE1 NX_P0DPI2 28170 268 8.5 21 Mitochondrion NA 0 PE1 NX_P0DPI3 29887 272 10.16 X NA NA 0 PE3 NX_P0DPI4 290 4 5.53 7 Cell membrane NA 0 PE4 NX_P0DPK2 15423 136 11.51 5 Nucleus;Chromosome NA 0 PE1 NX_P0DPK3 30097 275 5.44 1 Secreted NA 0 PE1 NX_P0DPK4 25835 236 5.44 1 Secreted NA 0 PE1 NX_P0DPK5 16466 147 11.39 5 Nucleus;Chromosome NA 0 PE5 NX_P0DPP9 6991 59 10.43 X NA NA 0 PE1 NX_P0DPQ3 21866 210 9.5 3 NA NA 0 PE3 NX_P0DPQ4 29214 251 8.7 21 NA NA 0 PE3 NX_P0DPQ6 4284 34 11.44 12 Cytoplasm;Nucleus NA 0 PE1 NX_P0DPR3 260 2 4 14 Cell membrane NA 0 PE1 NX_P10070 167783 1586 6.9 2 Cytoplasm;Nucleolus;Nucleus;Cilium Culler-Jones syndrome;Holoprosencephaly 9 0 PE1 NX_P10071 169863 1580 7.02 7 Cytoplasm;Nucleus;Cilium Pallister-Hall syndrome;Polydactyly preaxial 4;Polydactyly, postaxial A1;Polydactyly, postaxial B;Greig cephalo-poly-syndactyly syndrome 0 PE1 NX_P10072 75128 659 9.44 19 Mitochondrion;Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_P10073 54561 491 7.36 19 Cytosol;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 NX_P10074 77054 688 8.55 1 Nucleoplasm;Cytosol;Nucleus;Telomere NA 0 PE1 NX_P10075 41145 376 9.13 8 Cytoskeleton;Nucleus NA 0 PE1 NX_P10082 11145 97 7.88 17 Secreted NA 0 PE1 NX_P10092 13706 127 10.1 11 Secreted NA 0 PE1 NX_P10109 19393 184 5.51 11 Mitochondrion;Mitochondrion matrix NA 0 PE1 NX_P10114 20615 183 4.73 13 Recycling endosome membrane;Midbody NA 0 PE1 NX_P10124 17652 158 4.81 10 Extracellular space;Golgi apparatus;Cytoplasmic granule NA 0 PE1 NX_P10144 27716 247 9.62 14 Cytoplasmic granule NA 0 PE1 NX_P10145 11098 99 9.1 4 Secreted NA 0 PE1 NX_P10147 10085 92 4.77 17 Secreted NA 0 PE1 NX_P10153 18354 161 9.1 14 Cytoplasmic granule;Lysosome NA 0 PE1 NX_P10155 60671 538 8.27 1 Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 NX_P10163 31326 310 10.52 12 Secreted NA 0 PE1 NX_P10176 7579 69 10.26 11 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 NX_P10242 72341 640 6.35 6 Nucleus;Cell membrane NA 0 PE1 NX_P10243 85887 752 6.69 8 Nucleus NA 0 PE1 NX_P10244 78764 700 6.43 20 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_P10253 105324 952 5.62 17 Lysosome membrane;Lysosome Glycogen storage disease 2 0 PE1 NX_P10265 17108 156 5.86 5 NA NA 0 PE1 NX_P10266 114827 1014 9.11 5 NA NA 0 PE3 NX_P10275 99188 920 6.01 X Mitochondrion;Cytoplasm;Nucleus Androgen insensitivity syndrome;Spinal and bulbar muscular atrophy X-linked 1;Androgen insensitivity, partial 0 PE1 NX_P10276 50771 462 8.21 17 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P10301 23480 218 6.43 19 Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_P10314 41048 365 6.02 6 Membrane NA 1 PE1 NX_P10316 40977 365 6.42 6 Membrane NA 1 PE1 NX_P10319 40337 362 5.9 6 Membrane NA 1 PE1 NX_P10321 40649 366 5.71 6 Membrane NA 1 PE1 NX_P10323 45847 421 9.26 22 NA NA 0 PE1 NX_P10398 67585 606 9.2 X Nucleolus;Nucleus NA 0 PE1 NX_P10412 21865 219 11.03 6 Nucleus speckle;Nucleus;Chromosome Rahman syndrome 0 PE1 NX_P10415 26266 239 6.75 18 Endoplasmic reticulum membrane;Nucleoplasm;Nucleus membrane;Mitochondrion outer membrane NA 1 PE1 NX_P10451 35423 314 4.37 4 Golgi apparatus;Secreted NA 0 PE1 NX_P10515 68997 647 7.96 11 Mitochondrion matrix;Mitochondrion Pyruvate dehydrogenase E2 deficiency 0 PE1 NX_P10523 45120 405 6.14 2 Photoreceptor outer segment;Membrane Retinitis pigmentosa 47;Night blindness, congenital stationary, Oguchi type 1 0 PE1 NX_P10586 212879 1907 5.92 1 Golgi apparatus;Membrane Aplasia or hypoplasia of the breasts and/or nipples 2 1 PE1 NX_P10588 42979 404 7.96 19 Nucleus NA 0 PE1 NX_P10589 46156 423 8.62 5 Nucleus Bosch-Boonstra-Schaaf optic atrophy syndrome 0 PE1 NX_P10599 11737 105 4.82 9 Cytosol;Cytoplasm;Nucleolus;Nucleus;Secreted NA 0 PE1 NX_P10600 47328 412 8.31 14 Cytoplasmic vesicle;Secreted;Extracellular matrix Arrhythmogenic right ventricular dysplasia, familial, 1;Loeys-Dietz syndrome 5 0 PE1 NX_P10606 13696 129 9.07 2 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_P10619 54466 480 6.16 20 Cytoplasmic vesicle;Lysosome Galactosialidosis 0 PE1 NX_P10620 17599 155 9.41 12 Endoplasmic reticulum membrane;Mitochondrion;Microsome;Endoplasmic reticulum;Mitochondrion outer membrane NA 4 PE1 NX_P10632 55825 490 8.8 10 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_P10635 55769 497 6.77 22 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_P10636 78928 758 6.25 17 Nucleus speckle;Cytosol;Cytoplasm;Cell membrane;Axon;Dendrite;Cytoskeleton Frontotemporal dementia;Parkinson-dementia syndrome;Pick disease of the brain;Progressive supranuclear palsy 1 0 PE1 NX_P10643 93518 843 6.09 5 Secreted Complement component 7 deficiency 0 PE1 NX_P10644 42982 381 5.27 17 Cytosol;Cell membrane Primary pigmented nodular adrenocortical disease 1;Carney complex 1;Intracardiac myxoma;Acrodysostosis 1, with or without hormone resistance 0 PE1 NX_P10645 50688 457 4.58 14 Cytoplasmic vesicle;Secretory vesicle;Secretory vesicle lumen;Secretory vesicle membrane;Secreted NA 0 PE1 NX_P10646 35015 304 8.61 2 Cytosol;Microsome membrane;Cytoskeleton;Secreted NA 0 PE1 NX_P10696 57377 532 5.9 2 Cell membrane NA 0 PE1 NX_P10720 11553 104 9.3 4 Secreted NA 0 PE1 NX_P10721 109865 976 6.54 4 Cytoplasm;Cell membrane Piebald trait;Testicular germ cell tumor;Leukemia, acute myelogenous;Mastocytosis, cutaneous;Mastocytosis, systemic;Gastrointestinal stromal tumor 1 PE1 NX_P10745 135363 1247 4.98 10 Interphotoreceptor matrix Retinitis pigmentosa 66 0 PE1 NX_P10746 28628 265 5.35 10 Cytosol;Nucleoplasm Congenital erythropoietic porphyria 0 PE1 NX_P10747 25066 220 9.46 2 Cell surface;Membrane NA 1 PE1 NX_P10767 22905 208 10 12 Extracellular space NA 0 PE1 NX_P10768 31463 282 6.54 13 Cytoplasmic vesicle;Cytoplasm;Cytosol;Golgi apparatus NA 0 PE1 NX_P10809 61055 573 5.7 2 Mitochondrion matrix;Mitochondrion Spastic paraplegia 13, autosomal dominant;Leukodystrophy, hypomyelinating, 4 0 PE1 NX_P10826 50489 455 8.04 3 Nucleoplasm;Cytoplasm;Nucleus Microphthalmia, syndromic, 12 0 PE1 NX_P10827 54816 490 6.42 17 Cytosol;Nucleus Hypothyroidism, congenital, non-goitrous, 6 0 PE1 NX_P10828 52788 461 6.68 3 Nucleus Generalized thyroid hormone resistance;Generalized thyroid hormone resistance autosomal recessive;Selective pituitary thyroid hormone resistance 0 PE1 NX_P10909 52495 449 5.89 8 Secreted;Cytosol;Cytoplasm;Microsome;Endoplasmic reticulum;Nucleus;Mitochondrion membrane;Chromaffin granule NA 0 PE1 NX_P10911 107673 925 5.72 X Cytoplasm;Membrane NA 0 PE1 NX_P10912 71500 638 4.76 5 Cytosol;Cell membrane;Secreted Laron syndrome;Growth hormone insensitivity, partial 1 PE1 NX_P10914 36502 325 5.22 5 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Gastric cancer 0 PE1 NX_P10915 40166 354 7.1 5 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 NX_P10916 18789 166 4.92 12 A band;Cytoskeleton Cardiomyopathy, familial hypertrophic 10 0 PE1 NX_P10966 23722 210 10.03 2 Cell membrane;Secreted NA 1 PE1 NX_P10997 9806 89 9.83 12 Secreted NA 0 PE1 NX_P11021 72333 654 5.07 9 Cytosol;Cytoplasm;Endoplasmic reticulum lumen;Melanosome NA 0 PE1 NX_P11047 177603 1609 5.01 1 Basement membrane;Endoplasmic reticulum;Cell membrane NA 0 PE1 NX_P11049 31703 281 8.25 19 Membrane NA 4 PE1 NX_P11055 223905 1940 5.62 17 Myofibril Arthrogryposis, distal, 2A;Arthrogryposis, distal, 8;Arthrogryposis, distal, 2B 0 PE1 NX_P11086 30855 282 5.73 17 NA NA 0 PE1 NX_P11117 48344 423 6.28 11 Lysosome lumen;Lysosome membrane NA 1 PE1 NX_P11137 199526 1827 4.82 2 Cytosol;Dendrite;Cytoskeleton;Nucleolus NA 0 PE1 NX_P11142 70898 646 5.37 11 Cytoplasm;Nucleolus;Melanosome;Cell membrane NA 0 PE1 NX_P11150 55914 499 9.22 15 Secreted Hepatic lipase deficiency 0 PE1 NX_P11161 50302 476 9.02 10 Nucleoplasm;Nucleus Neuropathy, congenital hypomyelinating or amyelinating;Charcot-Marie-Tooth disease 1D;Dejerine-Sottas syndrome 0 PE1 NX_P11166 54084 492 8.93 1 Melanosome;Cell membrane Stomatin-deficient cryohydrocytosis with neurologic defects;GLUT1 deficiency syndrome 1;Dystonia 9;Epilepsy, idiopathic generalized 12;GLUT1 deficiency syndrome 2 12 PE1 NX_P11168 57490 524 8.09 3 Nucleoplasm;Membrane Fanconi-Bickel syndrome 12 PE1 NX_P11169 53924 496 6.84 12 Cell projection;Perikaryon;Cell membrane NA 12 PE1 NX_P11171 97017 864 5.42 1 Cytosol;Cell cortex;Cell membrane;Nucleus;Cytoskeleton;Cell junction Elliptocytosis 1 0 PE1 NX_P11172 52222 480 6.81 3 Cytosol Orotic aciduria 1 0 PE1 NX_P11177 39233 359 6.2 3 Mitochondrion;Cytoplasm;Mitochondrion matrix;Nucleoplasm Pyruvate dehydrogenase E1-beta deficiency 0 PE1 NX_P11182 53487 482 8.71 1 Mitochondrion matrix;Mitochondrion Maple syrup urine disease 2 0 PE1 NX_P11215 127179 1152 6.88 16 Membrane raft;Cell membrane Systemic lupus erythematosus 6 1 PE1 NX_P11216 96696 843 6.4 20 Cytosol NA 0 PE1 NX_P11217 97092 842 6.57 11 NA Glycogen storage disease 5 0 PE1 NX_P11226 26144 248 5.39 10 Secreted NA 0 PE1 NX_P11229 51421 460 9.45 11 Cytosol;Postsynaptic cell membrane;Nucleus;Cell membrane NA 7 PE1 NX_P11230 56698 501 5.5 17 Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, 2A, slow-channel 4 PE1 NX_P11233 23567 206 6.66 7 Midbody ring;Cleavage furrow;Cell membrane NA 0 PE1 NX_P11234 23409 206 6.24 2 Midbody;Cell membrane NA 0 PE1 NX_P11245 33542 290 5.6 8 Cytoplasm NA 0 PE1 NX_P11274 142819 1271 6.62 22 Cytosol;Postsynaptic density;Nucleoplasm Leukemia, chronic myeloid 0 PE1 NX_P11277 246468 2137 5.15 14 Cytosol;Cytoskeleton;Cell cortex;Golgi apparatus Spherocytosis 2;Elliptocytosis 3 0 PE1 NX_P11279 44882 417 9 13 Endosome membrane;Lysosome membrane;Late endosome;Cell membrane NA 1 PE1 NX_P11308 54608 486 7.01 21 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Ewing sarcoma 0 PE1 NX_P11309 35686 313 5.72 6 Cytosol;Cytoplasm;Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_P11310 46588 421 8.61 1 Mitochondrion matrix;Mitochondrion Acyl-CoA dehydrogenase medium-chain deficiency 0 PE1 NX_P11362 91868 822 5.82 8 Cytoplasmic vesicle;Cytosol;Nucleolus;Nucleus;Cell membrane Encephalocraniocutaneous lipomatosis;Pfeiffer syndrome;Hartsfield syndrome;Trigonocephaly 1;Jackson-Weiss syndrome;Hypogonadotropic hypogonadism 2 with or without anosmia;Osteoglophonic dysplasia 1 PE1 NX_P11387 90726 765 9.33 20 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P11388 174385 1531 8.82 17 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P11413 59257 515 6.39 X Cytosol;Cytoplasm;Cytoplasmic vesicle;Microtubule organizing center Anemia, non-spherocytic hemolytic, due to G6PD deficiency 0 PE1 NX_P11441 17777 157 8.71 X Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_P11464 47223 419 8.32 19 Secreted NA 0 PE1 NX_P11465 37216 335 7.66 19 Secreted NA 0 PE1 NX_P11473 48289 427 6.08 12 Nucleoplasm;Cytoplasm;Nucleus Rickets vitamin D-dependent 2A 0 PE1 NX_P11474 45510 423 6.01 11 Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_P11487 26887 239 10.88 11 Secreted Deafness with labyrinthine aplasia, microtia and microdontia 0 PE1 NX_P11488 40041 350 5.4 3 Photoreceptor outer segment;Membrane Night blindness, congenital stationary, 1G;Night blindness, congenital stationary, autosomal dominant 3 0 PE1 NX_P11498 129634 1178 6.37 11 Mitochondrion;Mitochondrion matrix Pyruvate carboxylase deficiency 0 PE1 NX_P11509 56501 494 9.25 19 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_P11511 57883 503 7.2 15 Mitochondrion;Endoplasmic reticulum;Membrane Aromatase deficiency;Aromatase excess syndrome 0 PE1 NX_P11532 426750 3685 5.64 X Cytoskeleton;Postsynaptic cell membrane;Sarcolemma Becker muscular dystrophy;Cardiomyopathy, dilated, X-linked 3B;Duchenne muscular dystrophy 0 PE1 NX_P11586 101559 935 6.89 14 Cytosol;Cytoplasm Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia;Neural tube defects, folate-sensitive;Colorectal cancer 0 PE1 NX_P11597 54756 493 5.7 16 Extracellular space Hyperalphalipoproteinemia 1 0 PE1 NX_P11678 81040 715 10.31 17 Cytoplasmic granule Eosinophil peroxidase deficiency 0 PE1 NX_P11684 9994 91 4.99 11 Secreted NA 0 PE1 NX_P11686 21053 197 6.19 8 Surface film Respiratory distress syndrome in premature infants;Pulmonary surfactant metabolism dysfunction 2 0 PE1 NX_P11712 55628 490 8.13 10 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_P11717 274375 2491 5.64 6 Cytoplasmic vesicle;Lysosome membrane;Golgi apparatus NA 1 PE1 NX_P11766 39724 374 7.45 4 Cytoplasm NA 0 PE1 NX_P11801 48035 424 9.82 16 Endoplasmic reticulum membrane;Nucleus speckle;Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane;Centrosome NA 0 PE1 NX_P11802 33730 303 6.52 12 Nucleolus;Nucleus membrane;Cytosol;Cytoplasm;Nucleus;Membrane Melanoma, cutaneous malignant 3 0 PE1 NX_P11831 51593 508 7.83 6 Nucleus NA 0 PE1 NX_P11836 33077 297 5.04 11 Cell membrane Immunodeficiency, common variable, 5 4 PE1 NX_P11844 20877 174 8.05 2 NA NA 0 PE1 NX_P11908 34769 318 6.15 X NA NA 0 PE1 NX_P11912 25038 226 4.87 19 Cell membrane Agammaglobulinemia 3, autosomal recessive 1 PE1 NX_P11926 51148 461 5.1 2 Cytosol;Cell membrane NA 0 PE1 NX_P11940 70671 636 9.52 8 Cytoplasm;Nucleus NA 0 PE1 NX_P12004 28769 261 4.57 20 Nucleoplasm;Nucleus Ataxia-telangiectasia-like disorder 2 0 PE1 NX_P12018 16605 145 6.3 22 NA NA 0 PE1 NX_P12034 29551 268 10.54 4 Cytosol;Nucleolus;Nucleus;Secreted Trichomegaly 0 PE1 NX_P12035 64417 628 6.12 12 NA Corneal dystrophy, Meesmann 0 PE1 NX_P12036 112479 1026 5.99 22 Cytosol;Cytoplasm;Nucleolus Amyotrophic lateral sclerosis;Charcot-Marie-Tooth disease 2CC 0 PE1 NX_P12074 12155 109 9.3 12 Mitochondrion;Mitochondrion inner membrane Charcot-Marie-Tooth disease, recessive, intermediate type, D 0 PE1 NX_P12081 57411 509 5.72 5 Cytosol;Cytoplasm Usher syndrome 3B;Charcot-Marie-Tooth disease 2W 0 PE1 NX_P12104 15207 132 6.62 4 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 NX_P12107 181065 1806 5.06 1 Endoplasmic reticulum;Extracellular matrix Marshall syndrome;Stickler syndrome 2;Fibrochondrogenesis 1 0 PE1 NX_P12109 108529 1028 5.26 21 Cytosol;Extracellular matrix Ullrich congenital muscular dystrophy 1;Bethlem myopathy 1 0 PE1 NX_P12110 108579 1019 5.85 21 Cytosol;Membrane;Cell membrane;Extracellular matrix Ullrich congenital muscular dystrophy 1;Myosclerosis autosomal recessive;Bethlem myopathy 1 0 PE1 NX_P12111 343669 3177 6.26 2 Extracellular matrix Ullrich congenital muscular dystrophy 1;Dystonia 27;Bethlem myopathy 1 0 PE1 NX_P12235 33064 298 9.78 4 Mitochondrion inner membrane Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2;Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type;Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type 6 PE1 NX_P12236 32866 298 9.76 X Mitochondrion inner membrane NA 6 PE1 NX_P12259 251703 2224 5.68 1 Golgi apparatus;Secreted Thrombophilia due to activated protein C resistance;Budd-Chiari syndrome;Ischemic stroke;Factor V deficiency;Pregnancy loss, recurrent, 1 0 PE1 NX_P12268 55805 514 6.44 3 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P12270 267293 2363 4.97 1 Kinetochore;Nucleus membrane;Cytoplasm;Nuclear pore complex;Nucleus envelope;Nucleus;Spindle NA 0 PE1 NX_P12271 36474 317 4.98 15 Cytosol;Cytoplasm;Centrosome;Nucleoplasm Retinitis punctata albescens;Rod-cone dystrophy Newfoundland;Bothnia retinal dystrophy 0 PE1 NX_P12272 20194 177 10.19 12 Golgi apparatus;Secreted;Cytosol;Cytoplasm;Nucleoplasm;Nucleus Brachydactyly E2 0 PE1 NX_P12273 16572 146 8.26 7 Secreted NA 0 PE1 NX_P12277 42644 381 5.34 14 Cytosol;Cytoplasm NA 0 PE1 NX_P12314 42632 374 8.09 1 Cell membrane NA 1 PE1 NX_P12318 35001 317 6.19 1 Cell membrane NA 1 PE1 NX_P12319 29596 257 6.23 1 Cell membrane NA 1 PE1 NX_P12429 36375 323 5.63 4 Cytosol NA 0 PE1 NX_P12524 40327 364 5.47 1 Nucleus NA 0 PE1 NX_P12525 40868 358 5.14 X Nucleus NA 0 PE5 NX_P12532 47037 417 8.6 15 Mitochondrion inner membrane NA 0 PE1 NX_P12544 28999 262 9.14 5 Cytoplasmic granule;Secreted NA 0 PE1 NX_P12643 44702 396 9.15 20 Cytoplasmic vesicle;Secreted Brachydactyly A2;Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 0 PE1 NX_P12644 46555 408 8.97 14 Extracellular matrix Non-syndromic orofacial cleft 11;Microphthalmia, syndromic, 6 0 PE1 NX_P12645 53372 472 9.64 4 Secreted NA 0 PE1 NX_P12694 50471 445 8.42 19 Mitochondrion matrix Maple syrup urine disease 1A 0 PE1 NX_P12724 18385 160 10.12 14 Secreted NA 0 PE1 NX_P12755 80005 728 7.73 1 Nucleoplasm;Nucleus Shprintzen-Goldberg craniosynostosis syndrome 0 PE1 NX_P12757 76976 684 6.72 3 Cytosol;Nucleoplasm NA 0 PE1 NX_P12814 103058 892 5.25 14 Ruffle;Cytoplasm;Cell membrane;Focal adhesion;Cytoskeleton;Cell junction;Z line Bleeding disorder, platelet-type 15 0 PE1 NX_P12821 149715 1306 5.95 17 Cytoplasmic vesicle;Cytoplasm;Cell membrane;Secreted Intracerebral hemorrhage;Ischemic stroke;Renal tubular dysgenesis;Microvascular complications of diabetes 3 1 PE1 NX_P12829 21565 197 4.98 17 Cell membrane Atrial fibrillation, familial, 18 0 PE1 NX_P12830 97456 882 4.58 16 Endosome;Golgi apparatus;trans-Golgi network;Cell membrane;Cell junction Ovarian cancer;Endometrial cancer;Blepharocheilodontic syndrome 1;Breast cancer, lobular;Hereditary diffuse gastric cancer 1 PE1 NX_P12838 10504 97 8.3 8 Secreted NA 0 PE1 NX_P12872 12920 115 6.14 6 Secreted NA 0 PE1 NX_P12882 223145 1939 5.59 17 Myofibril NA 0 PE1 NX_P12883 223097 1935 5.63 14 Sarcomere;Myofibril Left ventricular non-compaction 5;Cardiomyopathy, dilated 1S;Myopathy, myosin storage, autosomal recessive;Myopathy, myosin storage, autosomal dominant;Myopathy, distal, 1;Scapuloperoneal myopathy MYH7-related;Cardiomyopathy, familial hypertrophic 1 0 PE1 NX_P12931 59835 536 7.1 20 Cytosol;Cell membrane;Perinuclear region;Nucleus;Mitochondrion inner membrane;Cytoskeleton Thrombocytopenia 6 0 PE1 NX_P12955 54548 493 5.64 19 Nucleoplasm Prolidase deficiency 0 PE1 NX_P12956 69843 609 6.23 22 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_P12980 29938 280 10.69 19 Nucleus;Golgi apparatus NA 0 PE1 NX_P13010 82705 732 5.55 2 Nucleoplasm;Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_P13051 34645 313 9.37 12 Mitochondrion;Cytosol;Nucleus Immunodeficiency with hyper-IgM 5 0 PE1 NX_P13056 67315 603 5.89 12 Cytosol;PML body;Nucleus;Cell junction NA 0 PE1 NX_P13073 19577 169 9.52 16 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_P13164 13964 125 7.78 11 Cytosol;Cell membrane NA 1 PE1 NX_P13196 70581 640 8.74 3 Mitochondrion matrix;Mitochondrion;Nucleoplasm NA 0 PE1 NX_P13224 21718 206 9.67 22 Membrane Bernard-Soulier syndrome 1 PE1 NX_P13232 20187 177 8.87 8 Secreted NA 0 PE1 NX_P13236 10212 92 5.13 17 Secreted NA 0 PE1 NX_P13284 27964 250 4.79 19 Cytosol;Cytoplasmic vesicle;Lysosome;Secreted NA 0 PE1 NX_P13349 28296 255 5.9 12 Nucleoplasm;Nucleus NA 0 PE2 NX_P13378 31911 290 8.7 2 Nucleus NA 0 PE1 NX_P13385 21169 188 8.54 3 Cell membrane;Secreted NA 0 PE1 NX_P13473 44961 410 5.35 X Endosome membrane;Autophagosome membrane;Lysosome membrane;Cell membrane Danon disease 1 PE1 NX_P13489 49973 461 4.71 11 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 NX_P13497 111249 986 6.48 8 trans-Golgi network;Extracellular matrix Osteogenesis imperfecta 13 0 PE1 NX_P13498 21013 195 9.58 16 Cell membrane Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive 0 PE1 NX_P13500 11025 99 9.4 17 Cytoplasmic vesicle;Golgi apparatus;Secreted NA 0 PE1 NX_P13501 9990 91 9.27 17 Secreted NA 0 PE1 NX_P13521 70941 617 4.67 2 Secreted NA 0 PE1 NX_P13533 223735 1939 5.58 14 Myofibril Cardiomyopathy, dilated 1EE;Atrial septal defect 3;Cardiomyopathy, familial hypertrophic 14;Sick sinus syndrome 3 0 PE1 NX_P13535 222763 1937 5.59 17 Myofibril Arthrogryposis, distal, 7;Carney complex variant 0 PE1 NX_P13569 168142 1480 8.91 7 Endoplasmic reticulum membrane;Apical cell membrane;Early endosome membrane;Cell membrane;Nucleus;Recycling endosome membrane Congenital bilateral absence of the vas deferens;Cystic fibrosis 12 PE1 NX_P13584 58991 511 8.47 1 Endoplasmic reticulum membrane;Microsome membrane;Cytoplasmic vesicle NA 0 PE1 NX_P13591 94574 858 4.79 11 Cytosol;Cell membrane;Secreted NA 1 PE1 NX_P13598 30654 275 7.09 17 Cytosol;Microvillus;Membrane NA 1 PE1 NX_P13611 372820 3396 4.43 5 Cytoplasmic vesicle;Extracellular matrix Wagner vitreoretinopathy 0 PE1 NX_P13612 114900 1032 6.05 2 Cell membrane;Membrane NA 1 PE1 NX_P13631 50342 454 7.44 12 Nucleoplasm;Nucleus NA 0 PE1 NX_P13637 111749 1013 5.22 19 Cell membrane Alternating hemiplegia of childhood 2;Dystonia 12;Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 10 PE1 NX_P13639 95338 858 6.41 19 Cytosol;Cytoplasm;Nucleus;Cell membrane Spinocerebellar ataxia 26 0 PE1 NX_P13640 6141 62 8.38 16 NA NA 0 PE1 NX_P13645 58827 584 5.13 17 Extracellular space Erythroderma, ichthyosiform, congenital reticular;Ichthyosis annular epidermolytic;Epidermolytic hyperkeratosis 0 PE1 NX_P13646 49588 458 4.91 17 Cytoskeleton White sponge nevus 2 0 PE1 NX_P13647 62378 590 7.58 12 Cytoskeleton Epidermolysis bullosa simplex, with mottled pigmentation;Epidermolysis bullosa simplex, Dowling-Meara type;Epidermolysis bullosa simplex, autosomal recessive 1;Epidermolysis bullosa simplex, Weber-Cockayne type;Dowling-Degos disease 1;Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex, with migratory circinate erythema 0 PE1 NX_P13667 72932 645 4.96 7 Endoplasmic reticulum lumen;Melanosome;Endoplasmic reticulum NA 0 PE1 NX_P13671 104786 934 6.39 5 Secreted Complement component 6 deficiency 0 PE1 NX_P13674 61049 534 5.7 10 Cytoplasmic vesicle;Mitochondrion;Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 NX_P13682 59089 527 8.44 3 Nucleoplasm;Nucleus NA 0 PE1 NX_P13686 36599 325 8.82 19 Cytosol;Lysosome Spondyloenchondrodysplasia with immune dysregulation 0 PE1 NX_P13688 57560 526 5.65 19 Apical cell membrane;Secreted;Cell membrane;Basal cell membrane;Microvillus membrane;Adherens junction;Secretory vesicle membrane;Cell junction;Lateral cell membrane NA 1 PE1 NX_P13693 19595 172 4.84 13 Cytoplasm NA 0 PE1 NX_P13716 36295 330 6.32 9 NA Acute hepatic porphyria 0 PE1 NX_P13725 28484 252 10.71 22 Secreted NA 0 PE1 NX_P13726 33068 295 6.64 1 Cytoplasmic vesicle;Secreted;Membrane NA 1 PE1 NX_P13727 25206 222 6.32 11 Secretory vesicle;Secreted NA 0 PE1 NX_P13746 40937 365 5.77 6 Membrane NA 1 PE1 NX_P13747 40058 358 5.52 6 Golgi apparatus membrane;Cell membrane;Secreted NA 1 PE1 NX_P13760 30112 266 6.71 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 NX_P13761 29822 266 7.04 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 NX_P13762 29941 266 6.95 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 NX_P13765 30822 273 6.31 6 Endosome membrane;Lysosome membrane NA 1 PE1 NX_P13796 70288 627 5.29 13 Cytosol;Cell membrane;Ruffle membrane;Cytoskeleton;Cell projection;Cell junction NA 0 PE1 NX_P13797 70811 630 5.41 X Cytosol;Cytoplasm;Cell membrane Osteoporosis 0 PE1 NX_P13798 81225 732 5.29 3 Cytosol;Cytoplasm NA 0 PE1 NX_P13804 35080 333 8.62 15 Mitochondrion matrix;Mitochondrion Glutaric aciduria 2A 0 PE1 NX_P13805 32948 278 5.86 19 Cytosol;Nucleus;Golgi apparatus Nemaline myopathy 5 0 PE1 NX_P13807 83786 737 5.8 19 Cytosol;Cytoskeleton Muscle glycogen storage disease 0 0 PE1 NX_P13861 45518 404 4.96 3 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus;Cell membrane;Microtubule organizing center NA 0 PE1 NX_P13866 73498 664 7.82 22 Cytoplasmic vesicle;Nucleoplasm;Membrane Congenital glucose/galactose malabsorption 13 PE1 NX_P13928 36881 327 5.56 10 NA NA 0 PE1 NX_P13929 46987 434 7.58 17 Cytoplasm Glycogen storage disease 13 0 PE1 NX_P13942 171791 1736 5.89 6 Extracellular matrix Otospondylomegaepiphyseal dysplasia, autosomal dominant;Deafness, autosomal recessive, 53;Deafness, autosomal dominant, 13;Fibrochondrogenesis 2;Otospondylomegaepiphyseal dysplasia, autosomal recessive 0 PE1 NX_P13945 43519 408 9.39 8 Cell membrane NA 7 PE1 NX_P13984 28380 249 9.24 13 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_P13985 24343 223 12.23 1 NA NA 0 PE5 NX_P13987 14177 128 6.02 11 Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Secreted Hemolytic anemia, CD59-mediated, with or without polyneuropathy 0 PE1 NX_P13994 44802 396 8.47 19 Cytoplasmic vesicle NA 0 PE1 NX_P13995 37895 350 8.86 2 Mitochondrion NA 0 PE1 NX_P14060 42252 373 8.86 1 Endoplasmic reticulum membrane;Mitochondrion membrane NA 1 PE1 NX_P14061 34950 328 5.46 17 Cytosol;Cytoplasm NA 0 PE1 NX_P14091 42794 396 4.69 1 Endosome NA 0 PE1 NX_P14136 49880 432 5.42 17 Cytoplasm;Cytoskeleton Alexander disease 0 PE1 NX_P14138 25454 238 6.24 20 Secreted Congenital central hypoventilation syndrome;Waardenburg syndrome 4B;Hirschsprung disease 4 0 PE1 NX_P14151 42187 372 6.2 1 Cytosol;Cell membrane NA 1 PE1 NX_P14174 12476 115 7.73 22 Cytosol;Cytoplasm;Nucleoplasm;Secreted Rheumatoid arthritis systemic juvenile 0 PE1 NX_P14207 29280 255 7.5 11 Cell membrane;Secreted NA 0 PE1 NX_P14209 18848 185 4.58 X Golgi apparatus;Membrane NA 1 PE1 NX_P14210 83134 728 8.22 7 Cytosol;Centrosome Deafness, autosomal recessive, 39 0 PE1 NX_P14222 61377 555 8.04 10 Cytosol;Cytoplasmic granule lumen;Endosome lumen;Cell membrane;Secreted Familial hemophagocytic lymphohistiocytosis 2 0 PE1 NX_P14314 59425 528 4.33 19 Endoplasmic reticulum Polycystic liver disease 1 with or without kidney cysts 0 PE1 NX_P14316 39354 349 7.07 4 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_P14317 54014 486 4.74 3 Cytosol;Cytoplasm;Mitochondrion;Cell membrane;Membrane NA 0 PE1 NX_P14324 48275 419 5.83 1 Nucleoplasm;Cytoplasm;Cytosol Porokeratosis 9, multiple types 0 PE1 NX_P14373 58490 513 5.83 6 Early endosome;Cytoplasm;Nucleolus;Nucleus;PML body NA 0 PE1 NX_P14384 50514 443 6.94 12 Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_P14406 9396 83 9.75 6 Mitochondrion;Mitochondrion inner membrane;Cell membrane NA 0 PE1 NX_P14410 209453 1827 5.38 3 Apical cell membrane Congenital sucrase-isomaltase deficiency 1 PE1 NX_P14415 33367 290 8.57 17 Cell membrane NA 1 PE1 NX_P14416 50619 443 9.55 11 Cell membrane NA 7 PE1 NX_P14543 136377 1247 5.12 1 Basement membrane NA 0 PE1 NX_P14550 36573 325 6.32 1 Nucleoplasm;Cytosol NA 0 PE1 NX_P14555 16083 144 9.44 1 Nucleolus;Nucleus;Endoplasmic reticulum;Cell membrane;Secreted NA 0 PE1 NX_P14598 44682 390 9.2 7 Cytosol;Membrane Granulomatous disease, chronic, cytochrome-b-positive 1, autosomal recessive 0 PE1 NX_P14616 143720 1297 6.03 1 Membrane NA 1 PE1 NX_P14618 57937 531 7.96 15 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P14621 11140 99 9.52 2 Nucleoplasm;Cytoplasm NA 0 PE1 NX_P14625 92469 803 4.76 12 Endoplasmic reticulum lumen;Melanosome;Endoplasmic reticulum NA 0 PE1 NX_P14635 48337 433 7.09 5 Cytosol;Cytoplasm;Nucleus;Centrosome NA 0 PE1 NX_P14649 22764 208 5.56 12 Cytoplasmic vesicle NA 0 PE1 NX_P14651 44340 431 9.27 17 Nucleus NA 0 PE1 NX_P14652 37914 356 5.03 17 Nucleus NA 0 PE1 NX_P14653 32193 301 6.45 17 Nucleus Facial paresis, hereditary congenital, 3 0 PE1 NX_P14672 54787 509 6.48 17 Perinuclear region;Cell membrane;Endomembrane system Diabetes mellitus, non-insulin-dependent 12 PE1 NX_P14678 24610 240 11.2 20 Cytosol;Nucleus Cerebrocostomandibular syndrome 0 PE1 NX_P14679 60393 529 5.71 11 Cytoplasmic vesicle;Melanosome;Melanosome membrane Albinism, oculocutaneous, 1A;Albinism, oculocutaneous, 1B 1 PE1 NX_P14735 117968 1019 6.16 10 Cytoplasm;Cell membrane;Secreted NA 0 PE1 NX_P14770 19046 177 5.89 3 Membrane Bernard-Soulier syndrome 1 PE1 NX_P14778 65402 569 8 2 Membrane;Cell membrane;Secreted NA 1 PE1 NX_P14780 78458 707 5.69 20 Cytosol;Extracellular matrix Intervertebral disc disease;Metaphyseal anadysplasia 2 0 PE1 NX_P14784 61117 551 4.93 22 Membrane NA 1 PE1 NX_P14854 10192 86 6.54 19 Mitochondrion;Mitochondrion intermembrane space Mitochondrial complex IV deficiency 0 PE1 NX_P14859 76472 743 6.34 1 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_P14866 64133 589 8.46 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P14867 51802 456 9.27 5 Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane Juvenile myoclonic epilepsy 5;Epilepsy, idiopathic generalized 13;Epileptic encephalopathy, early infantile, 19;Epilepsy, childhood absence 4 4 PE1 NX_P14868 57136 501 6.11 2 Cytosol Hypomyelination with brainstem and spinal cord involvement and leg spasticity 0 PE1 NX_P14902 45326 403 6.87 8 Cytosol NA 0 PE1 NX_P14920 39474 347 6.36 12 Peroxisome Schizophrenia 0 PE1 NX_P14921 50408 441 5.04 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P14923 81745 745 5.75 17 Cell membrane;Cytoplasmic vesicle;Desmosome;Membrane;Adherens junction;Cytoskeleton;Cell junction Arrhythmogenic right ventricular dysplasia, familial, 12;Naxos disease 0 PE1 NX_P14927 13530 111 8.73 8 Mitochondrion;Cytoplasm;Nucleus;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 3 0 PE1 NX_P15018 22008 202 9.44 22 Cytosol;Secreted NA 0 PE1 NX_P15036 53001 469 4.93 21 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_P15056 84437 766 7.29 7 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Cell membrane Lung cancer;Colorectal cancer;Cardiofaciocutaneous syndrome 1;Noonan syndrome 7;LEOPARD syndrome 3;Familial non-Hodgkin lymphoma 0 PE1 NX_P15085 47140 419 5.45 7 Secreted NA 0 PE1 NX_P15086 47368 417 6.16 3 Secreted NA 0 PE1 NX_P15088 48670 417 9.08 3 Secretory vesicle NA 0 PE1 NX_P15090 14719 132 6.59 8 Cytoplasm;Nucleus NA 0 PE1 NX_P15104 42064 373 6.43 1 Mitochondrion;Cytosol;Microsome;Cell membrane Congenital systemic glutamine deficiency 0 PE1 NX_P15121 35853 316 6.51 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P15144 109540 967 5.31 15 Cell membrane NA 1 PE1 NX_P15151 45303 417 6.07 19 Cytoplasmic vesicle;Nucleoplasm;Cell membrane;Secreted NA 1 PE1 NX_P15153 21429 192 7.52 22 Cytoplasm Neutrophil immunodeficiency syndrome 0 PE1 NX_P15169 52286 458 6.86 10 Extracellular space;Nucleolus;Nucleus Carboxypeptidase N deficiency 0 PE1 NX_P15170 55756 499 5.45 16 Cytoplasmic vesicle;Cytoplasm;Cytosol NA 0 PE1 NX_P15172 34501 320 5.56 11 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_P15173 25037 224 5.45 1 Nucleoplasm;Nucleus NA 0 PE1 NX_P15248 15909 144 8.93 5 Secreted NA 0 PE2 NX_P15259 28766 253 8.99 7 Nucleoplasm;Cytosol Glycogen storage disease 10 0 PE1 NX_P15260 54405 489 4.83 6 Cell membrane Immunodeficiency 27A;Immunodeficiency 27B 1 PE1 NX_P15289 53588 507 5.65 22 Cytosol;Golgi apparatus;Endoplasmic reticulum;Lysosome Metachromatic leukodystrophy;Multiple sulfatase deficiency 0 PE1 NX_P15291 43920 398 8.88 9 Golgi stack membrane;Golgi apparatus;Secreted;Cell membrane;Filopodium;Cell surface Congenital disorder of glycosylation 2D 1 PE1 NX_P15309 44566 386 5.83 3 Lysosome membrane;Cell membrane;Secreted NA 0 PE1 NX_P15311 69413 586 5.94 6 Apical cell membrane;Microvillus;Cell cortex;Cell membrane;Microvillus membrane;Ruffle membrane;Cytoskeleton;Cell projection NA 0 PE1 NX_P15313 56833 513 5.44 2 Nucleus;Nucleus membrane;Endomembrane system Renal tubular acidosis, distal, with progressive nerve deafness 0 PE1 NX_P15328 29819 257 8.3 11 Endosome;Apical cell membrane;Nucleus membrane;Secreted;Cell membrane;Cytoplasmic vesicle;Clathrin-coated vesicle Neurodegeneration due to cerebral folate transport deficiency 0 PE1 NX_P15336 54537 505 7.75 2 Nucleoplasm;Cytoplasm;Nucleus;Mitochondrion outer membrane NA 0 PE1 NX_P15374 26183 230 4.84 13 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P15382 14675 129 6.83 21 Apical cell membrane;Membrane raft;Cell membrane Long QT syndrome 5;Jervell and Lange-Nielsen syndrome 2 1 PE1 NX_P15391 61128 556 4.87 16 Membrane Immunodeficiency, common variable, 3 1 PE1 NX_P15407 29413 271 8.21 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P15408 35193 326 7.03 2 Nucleus NA 0 PE1 NX_P15421 8463 78 9.51 4 Membrane NA 1 PE2 NX_P15428 28977 266 5.56 4 Cytosol;Nucleoplasm;Cytoplasm Cranioosteoarthropathy;Isolated congenital nail clubbing;Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 0 PE1 NX_P15498 98314 845 6.2 19 Cytosol NA 0 PE1 NX_P15502 68398 786 10.4 7 Mitochondrion;Cell membrane;Extracellular matrix Supravalvular aortic stenosis;Cutis laxa, autosomal dominant, 1 0 PE1 NX_P15509 46207 400 7.91 X Cell membrane;Secreted Pulmonary surfactant metabolism dysfunction 4 1 PE1 NX_P15514 27895 252 7.01 4 Mitochondrion;Membrane NA 1 PE1 NX_P15515 6963 57 9.1 4 Secreted NA 0 PE1 NX_P15516 6149 51 10.09 4 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_P15529 43747 392 6.34 1 Cell membrane;Acrosome inner membrane Hemolytic uremic syndrome atypical 2 1 PE1 NX_P15531 17149 152 5.83 17 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_P15538 57573 503 9.4 8 Mitochondrion membrane Adrenal hyperplasia 4;Hyperaldosteronism, familial, 1 0 PE1 NX_P15559 30868 274 8.91 16 Cytosol;Cytoplasm NA 0 PE1 NX_P15586 62082 552 8.6 12 Lysosome Mucopolysaccharidosis 3D 0 PE1 NX_P15621 76524 663 9 19 Nucleoplasm;Cytosol;Cytoskeleton;Nucleus NA 0 PE1 NX_P15622 63468 560 8.65 8 Nucleus speckle;Nucleus NA 0 PE1 NX_P15692 27042 232 9.21 6 Secreted Microvascular complications of diabetes 1 0 PE1 NX_P15735 46442 406 5.95 16 Cytosol Glycogen storage disease 9C 0 PE1 NX_P15812 43626 388 8.87 1 Lysosome lumen;Late endosome;Golgi apparatus membrane;Early endosome NA 1 PE1 NX_P15813 37717 335 8.43 1 Endoplasmic reticulum membrane;Lysosome membrane;Basolateral cell membrane;Endoplasmic reticulum;Endosome membrane;Cell membrane NA 1 PE1 NX_P15814 22963 213 10.1 22 Endoplasmic reticulum;Secreted Agammaglobulinemia 2, autosomal recessive 0 PE1 NX_P15822 296865 2718 7.98 6 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_P15848 59687 533 8.43 5 Cell surface;Golgi apparatus;Lysosome Mucopolysaccharidosis 6;Multiple sulfatase deficiency 0 PE1 NX_P15863 55499 534 9.9 20 Nucleus Otofaciocervical syndrome 2 0 PE1 NX_P15880 31324 293 10.25 16 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_P15882 53172 459 6.51 2 Cytosol Duane retraction syndrome 2 0 PE1 NX_P15884 71308 667 6.51 18 Cytosol;Nucleoplasm;Nucleus Corneal dystrophy, Fuchs endothelial, 3;Pitt-Hopkins syndrome 0 PE1 NX_P15907 46605 406 9.13 3 Golgi stack membrane;Secreted NA 1 PE1 NX_P15918 119097 1043 8.94 11 Nucleus Omenn syndrome;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive;Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity;Combined cellular and humoral immune defects with granulomas 0 PE1 NX_P15923 67600 654 6 19 Nucleoplasm;Nucleus Agammaglobulinemia 8, autosomal dominant 0 PE1 NX_P15924 331774 2871 6.44 6 Desmosome;Cytoskeleton;Cell junction;Cell membrane Keratoderma, palmoplantar, striate 2;Arrhythmogenic right ventricular dysplasia, familial, 8;Epidermolysis bullosa, lethal acantholytic;Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis;Skin fragility-woolly hair syndrome;Cardiomyopathy, dilated, with woolly hair and keratoderma 0 PE1 NX_P15927 29247 270 5.75 1 Nucleoplasm;PML body;Nucleus NA 0 PE1 NX_P15941 122102 1255 6.96 1 Cytoplasm;Apical cell membrane;Nucleus;Cell membrane;Secreted Medullary cystic kidney disease 1 1 PE1 NX_P15954 7246 63 10.29 5 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 NX_P15976 42751 413 9.03 X Nucleus Thrombocytopenia with beta-thalassemia, X-linked;Anemia without thrombocytopenia, X-linked;X-linked dyserythropoietic anemia and thrombocytopenia 0 PE1 NX_P16035 24399 220 7.46 17 Cytoplasm;Secreted NA 0 PE1 NX_P16050 74804 662 6.14 17 Cytosol;Lipid droplet;Cell membrane NA 0 PE1 NX_P16066 118919 1061 6.19 1 Nucleolus;Nucleus;Cell membrane;Membrane NA 1 PE1 NX_P16070 81538 742 5.13 11 Microvillus;Golgi apparatus;Cell membrane NA 1 PE1 NX_P16083 25919 231 5.87 6 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_P16104 15145 143 10.74 11 Nucleoplasm;Nucleus speckle;Nucleus;Chromosome NA 0 PE1 NX_P16109 90834 830 6.17 1 Cell membrane Ischemic stroke 1 PE1 NX_P16112 261329 2530 4.06 15 Extracellular matrix Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia type Kimberley 0 PE1 NX_P16118 54681 471 6.14 X NA NA 0 PE1 NX_P16144 202167 1822 5.74 17 Hemidesmosome;Cell junction;Cell membrane Epidermolysis bullosa simplex, Weber-Cockayne type;Generalized atrophic benign epidermolysis bullosa;Epidermolysis bullosa letalis, with pyloric atresia 1 PE1 NX_P16150 40322 400 5.01 16 PML body;Uropodium;Golgi apparatus;Microvillus;Cell membrane;Nucleus;Membrane;Cell junction NA 1 PE1 NX_P16152 30375 277 8.55 21 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P16157 206265 1881 5.65 8 Sarcoplasmic reticulum;Cytoskeleton;M line;Membrane Spherocytosis 1 0 PE1 NX_P16188 40905 365 5.73 6 Membrane NA 1 PE1 NX_P16189 41004 365 6.02 6 Membrane NA 1 PE1 NX_P16190 40892 365 6.22 6 Membrane NA 1 PE1 NX_P16219 44297 412 8.13 12 Mitochondrion;Mitochondrion matrix Acyl-CoA dehydrogenase short-chain deficiency 0 PE1 NX_P16220 36688 341 5.46 2 Nucleoplasm;Nucleus Angiomatoid fibrous histiocytoma 0 PE1 NX_P16233 51157 465 6.27 10 Secreted Pancreatic lipase deficiency 0 PE1 NX_P16234 122670 1089 5.05 4 Golgi apparatus;Nucleus;Cilium;Cell membrane;Cell junction Gastrointestinal stromal tumor 1 PE1 NX_P16260 36224 332 9.87 10 Mitochondrion;Mitochondrion inner membrane NA 6 PE1 NX_P16278 76075 677 6.1 3 Cytoplasmic vesicle;Perinuclear region;Golgi apparatus;Lysosome GM1-gangliosidosis 1;GM1-gangliosidosis 3;GM1-gangliosidosis 2;Mucopolysaccharidosis 4B 0 PE1 NX_P16284 82522 738 6.55 17 Cell junction;Cell membrane;Membrane raft NA 1 PE1 NX_P16298 59024 524 5.6 10 Mitochondrion;Cytoplasm NA 0 PE1 NX_P16333 42864 377 6.06 3 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Cell membrane NA 0 PE1 NX_P16383 89385 781 5.71 2 Nucleoplasm;Nucleolus NA 0 PE1 NX_P16389 56717 499 4.78 1 Endoplasmic reticulum membrane;Synaptosome;Synapse;Cell membrane;Axon;Dendrite;Lamellipodium membrane;Presynaptic cell membrane;Membrane;Paranodal septate junction Epileptic encephalopathy, early infantile, 32 6 PE1 NX_P16401 22580 226 10.91 6 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_P16402 22350 221 11.02 6 Nucleus;Chromosome NA 0 PE1 NX_P16403 21365 213 10.94 6 Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_P16410 24656 223 6.7 2 Cell membrane Systemic lupus erythematosus;Autoimmune lymphoproliferative syndrome 5;Diabetes mellitus, insulin-dependent, 12;Celiac disease 3 1 PE1 NX_P16415 70270 610 9.04 19 Nucleus NA 0 PE1 NX_P16422 34932 314 7.42 2 Cell membrane;Tight junction;Lateral cell membrane Diarrhea 5, with tufting enteropathy, congenital;Hereditary non-polyposis colorectal cancer 8 1 PE1 NX_P16435 76690 677 5.38 7 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cytosol;Endoplasmic reticulum;Nucleoplasm Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency;Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis 1 PE1 NX_P16442 40934 354 9.14 9 Golgi stack membrane;Secreted NA 1 PE1 NX_P16444 45674 411 5.75 16 Microvillus membrane;Apical cell membrane;Nucleus;Cell junction NA 0 PE1 NX_P16452 77009 691 8.39 15 Cytoskeleton;Cell membrane Spherocytosis 5 0 PE1 NX_P16455 21646 207 8.28 10 Nucleoplasm;Nucleus NA 0 PE1 NX_P16471 69506 622 5.23 5 Membrane;Secreted Hyperprolactinemia;Multiple fibroadenomas of the breast 1 PE1 NX_P16473 86830 764 6.56 14 Basolateral cell membrane;Cell membrane Hypothyroidism, congenital, non-goitrous, 1;Hyperthyroidism, non-autoimmune;Familial gestational hyperthyroidism 7 PE1 NX_P16499 99547 860 5.48 5 Cell membrane Retinitis pigmentosa 43 0 PE1 NX_P16519 70565 638 6.04 20 Cytoplasmic vesicle;Secretory vesicle;Secreted NA 0 PE1 NX_P16520 37221 340 5.39 12 NA Night blindness, congenital stationary, 1H 0 PE1 NX_P16562 27259 243 6.09 6 Secreted NA 0 PE1 NX_P16581 66655 610 5.2 1 Cell membrane NA 1 PE1 NX_P16591 94638 822 6.72 5 Cytosol;Cytoplasm;Cell cortex;Cell membrane;Nucleus;Membrane;Cytoskeleton;Cell projection;Cell junction NA 0 PE1 NX_P16615 114757 1042 5.23 12 Endoplasmic reticulum membrane;Nucleoplasm;Sarcoplasmic reticulum membrane Acrokeratosis verruciformis;Darier disease 10 PE1 NX_P16619 10161 93 4.77 17 Secreted NA 0 PE1 NX_P16662 60721 529 8.54 4 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_P16671 53053 472 8.19 7 Apical cell membrane;Cell membrane;Golgi apparatus;Membrane raft Platelet glycoprotein IV deficiency;Coronary heart disease 7 2 PE1 NX_P16860 14726 134 10.34 1 Secreted NA 0 PE1 NX_P16870 53151 476 5.03 4 Secreted;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Secretory vesicle membrane;Centrosome NA 0 PE1 NX_P16871 51579 459 5.27 5 Secreted;Cell membrane;Microtubule organizing center Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive;Multiple sclerosis 3 1 PE1 NX_P16885 147870 1265 6.21 16 Cytoplasmic vesicle Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated;Familial cold autoinflammatory syndrome 3 0 PE1 NX_P16930 46374 419 6.46 15 Cytosol Tyrosinemia 1 0 PE1 NX_P16949 17303 149 5.76 1 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_P16989 40090 372 9.77 12 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P17010 90522 805 5.71 X Nucleus NA 0 PE1 NX_P17014 81202 697 8.12 7 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 NX_P17017 75353 642 9.36 19 Cytosol;Nucleus NA 0 PE1 NX_P17019 57357 499 9.5 19 Nucleus NA 0 PE1 NX_P17020 76472 682 8.31 8 Nucleolus;Nucleus NA 0 PE1 NX_P17021 77204 662 8.81 19 Nucleus NA 0 PE1 NX_P17022 62288 549 5.65 17 Cytosol;Nucleoplasm;Nucleus;Golgi apparatus;Cell membrane NA 0 PE1 NX_P17023 52449 458 7.98 16 Mitochondrion;Nucleus NA 0 PE1 NX_P17024 61567 532 8.94 19 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_P17025 73646 639 8.97 X Nucleus NA 0 PE1 NX_P17026 25915 224 10.06 10 Nucleus NA 0 PE1 NX_P17027 73059 643 8.49 16 Cytosol;Nucleus NA 0 PE1 NX_P17028 42155 368 5.82 18 Nucleus NA 0 PE1 NX_P17029 63630 563 6.6 7 Mitochondrion;Nucleus NA 0 PE1 NX_P17030 53545 456 9.22 10 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE2 NX_P17031 61282 533 9.12 12 Mitochondrion;Nucleus NA 0 PE1 NX_P17032 65418 561 8.53 10 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P17035 83658 718 9.25 19 Nucleus NA 0 PE1 NX_P17036 50916 446 7.31 7 Nucleoplasm;Nucleus NA 0 PE1 NX_P17038 94124 809 9.35 19 Nucleus NA 0 PE1 NX_P17039 71417 623 9.27 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_P17040 117541 1043 6.01 1 Nucleoplasm;Nucleus NA 0 PE1 NX_P17041 31029 273 9.52 10 Nucleoplasm;Nucleus NA 0 PE1 NX_P17050 46565 411 4.98 22 Lysosome Kanzaki disease;Schindler disease 0 PE1 NX_P17066 71028 643 5.81 1 NA NA 0 PE1 NX_P17081 22659 205 5.94 2 Cytosol;Cytoplasm;Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_P17096 11676 107 10.31 6 Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_P17097 77887 686 8.67 8 Mitochondrion;Nucleus NA 0 PE1 NX_P17098 64970 575 7.04 19 Nucleoplasm;Nucleus NA 0 PE1 NX_P17152 21541 192 6.98 17 Mitochondrion;Mitochondrion inner membrane;Cell membrane NA 2 PE1 NX_P17174 46248 413 6.53 10 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 NX_P17181 63525 557 5.58 21 Cytosol;Late endosome;Cell membrane;Lysosome NA 1 PE1 NX_P17213 53900 487 9.41 20 Cytoplasmic granule membrane;Secreted NA 0 PE1 NX_P17252 76750 672 6.61 17 Cytosol;Cytoplasm;Nucleus;Mitochondrion membrane;Cell membrane NA 0 PE1 NX_P17275 35879 347 9.27 19 Nucleoplasm;Nucleus NA 0 PE1 NX_P17301 129295 1181 5.16 5 Cytosol;Nucleus;Membrane NA 1 PE1 NX_P17302 43008 382 8.96 6 Gap junction;Nucleoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane;Cell junction Palmoplantar keratoderma and congenital alopecia 1;Oculodentodigital dysplasia, autosomal recessive;Craniometaphyseal dysplasia, autosomal recessive;Hallermann-Streiff syndrome;Atrioventricular septal defect 3;Syndactyly 3;Oculodentodigital dysplasia;Hypoplastic left heart syndrome 1;Erythrokeratodermia variabilis et progressiva 3 4 PE1 NX_P17342 59808 541 5.93 5 Cytosol;Membrane NA 1 PE1 NX_P17405 69936 631 6.9 11 Secreted;Lysosome Niemann-Pick disease A;Niemann-Pick disease B 0 PE1 NX_P17480 89406 764 5.63 17 Nucleolus Neurodegeneration, childhood-onset, with brain atrophy 0 PE1 NX_P17481 27574 243 8.48 17 Nucleoplasm;Nucleus NA 0 PE1 NX_P17482 28059 250 9.01 17 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_P17483 27604 251 9.82 17 Nucleus;Centrosome NA 0 PE1 NX_P17509 25432 224 8.45 17 Nucleus;Golgi apparatus NA 0 PE1 NX_P17516 37067 323 6.46 10 Cytoplasm 46,XY sex reversal 8 0 PE1 NX_P17535 35174 347 6.86 19 Nucleus NA 0 PE1 NX_P17538 27713 263 6.79 16 Extracellular space NA 0 PE1 NX_P17540 47504 419 8.46 5 Mitochondrion inner membrane NA 0 PE1 NX_P17542 34271 331 7.81 1 Nucleus NA 0 PE1 NX_P17544 52967 494 8.88 12 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_P17568 16402 137 9.1 19 Cytoplasm;Mitochondrion inner membrane;Mitochondrion intermembrane space NA 0 PE1 NX_P17600 74111 705 9.84 X Synapse;Golgi apparatus Epilepsy X-linked, with variable learning disabilities and behavior disorders 0 PE1 NX_P17612 40590 351 8.84 19 Flagellum;Acrosome;Cytoplasm;Cell membrane;Nucleus;Membrane;Mitochondrion Primary pigmented nodular adrenocortical disease 4 0 PE1 NX_P17643 60724 537 5.62 9 Cytoplasmic vesicle;Melanosome;Melanosome membrane Albinism, oculocutaneous, 3 1 PE1 NX_P17655 79995 700 4.87 1 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_P17658 58729 529 4.9 12 Cell membrane NA 6 PE1 NX_P17661 53536 470 5.21 2 Cytoplasm;Cytoskeleton;Nucleus;Sarcolemma;Z line Neurogenic scapuloperoneal syndrome Kaeser type;Cardiomyopathy, dilated 1I;Limb-girdle muscular dystrophy 2R;Myopathy, myofibrillar, 1 0 PE1 NX_P17676 36106 345 8.55 20 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P17677 24803 238 4.64 3 Filopodium membrane;Cytoplasm;Synapse;Cell membrane;Growth cone membrane NA 0 PE1 NX_P17693 38224 338 5.47 6 Endoplasmic reticulum membrane;Secreted;Early endosome membrane;Cell membrane;Early endosome;Filopodium membrane NA 1 PE1 NX_P17706 48473 415 8.51 18 Endoplasmic reticulum-Golgi intermediate compartment;Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_P17707 38340 334 5.71 6 Nucleoplasm NA 0 PE1 NX_P17735 50399 454 5.92 16 NA Tyrosinemia 2 0 PE1 NX_P17752 50985 444 6.77 11 Cytosol NA 0 PE1 NX_P17787 57019 502 6.33 1 Postsynaptic cell membrane;Cell membrane Epilepsy, nocturnal frontal lobe, 3 4 PE1 NX_P17812 66690 591 6.02 1 Cytosol;Cytoskeleton Immunodeficiency 24 0 PE1 NX_P17813 70578 658 6.14 9 Cell membrane Telangiectasia, hereditary hemorrhagic, 1 1 PE1 NX_P17844 69148 614 9.06 17 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P17858 85018 780 7.26 21 Mitochondrion;Cytoplasm;Nucleolus NA 0 PE1 NX_P17861 28695 261 9.71 22 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Endoplasmic reticulum;Membrane Major affective disorder 7 1 PE1 NX_P17900 20838 193 5.17 5 Lysosome GM2-gangliosidosis AB 0 PE1 NX_P17927 223663 2039 6.57 1 Membrane NA 1 PE1 NX_P17931 26152 250 8.58 14 Secreted;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus NA 0 PE1 NX_P17936 31674 291 9.03 7 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Secreted NA 0 PE1 NX_P17947 31083 270 6.31 11 Nucleoplasm;Nucleus NA 0 PE1 NX_P17948 150769 1338 8.66 13 Cytoplasm;Endosome;Cytoskeleton;Cell membrane;Secreted NA 1 PE1 NX_P17980 49204 439 5.13 11 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P17987 60344 556 5.8 6 Cytosol;Cytoplasm;Centrosome NA 0 PE1 NX_P18031 49967 435 5.88 20 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 0 PE1 NX_P18054 75694 663 5.82 17 Cytosol;Nucleus speckle;Membrane Esophageal cancer;Colorectal cancer 0 PE1 NX_P18065 34814 325 7.48 2 Endoplasmic reticulum;Secreted NA 0 PE1 NX_P18074 86909 760 6.72 19 Nucleoplasm;Spindle;Nucleus Trichothiodystrophy 1, photosensitive;Xeroderma pigmentosum complementation group D;Cerebro-oculo-facio-skeletal syndrome 2 0 PE1 NX_P18075 49313 431 7.74 20 Cytoplasmic vesicle;Nucleolus;Nucleus;Secreted NA 0 PE1 NX_P18077 12538 110 11.07 3 NA Diamond-Blackfan anemia 5 0 PE1 NX_P18084 88054 799 5.72 3 Mitochondrion;Cell membrane;Membrane NA 1 PE1 NX_P18085 20511 180 6.6 3 Golgi apparatus;Membrane NA 0 PE1 NX_P18089 49954 450 8.8 2 Cell membrane Epilepsy, familial adult myoclonic, 2 7 PE1 NX_P18124 29226 248 10.66 8 Cytosol;Nucleolus;Endoplasmic reticulum NA 0 PE1 NX_P18146 57507 543 8.51 5 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P18206 123799 1134 5.5 10 Cytoplasm;Cell membrane;Focal adhesion;Sarcolemma;Adherens junction;Cytoskeleton Cardiomyopathy, dilated 1W;Cardiomyopathy, familial hypertrophic 15 0 PE1 NX_P18283 21954 190 7.64 14 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_P18405 29459 259 9.19 5 Endoplasmic reticulum membrane;Microsome membrane NA 5 PE1 NX_P18428 53384 481 6.23 20 Cytoplasmic granule membrane;Secreted NA 0 PE1 NX_P18433 90719 802 6.23 20 Cytoplasmic vesicle;Nucleus;Membrane NA 1 PE1 NX_P18440 33899 290 6.09 8 Cytoplasm NA 0 PE1 NX_P18462 41218 365 6.09 6 Membrane NA 1 PE1 NX_P18463 40456 362 5.78 6 Membrane NA 1 PE1 NX_P18464 40566 362 5.96 6 Membrane NA 1 PE1 NX_P18465 40224 362 5.89 6 Membrane NA 1 PE1 NX_P18505 54235 474 8.88 4 Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, early infantile, 45 4 PE1 NX_P18507 54162 467 8.72 5 Dendrite;Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane Generalized epilepsy with febrile seizures plus 3;Epilepsy, childhood absence 2;Febrile seizures, familial, 8 4 PE1 NX_P18509 18835 176 9.83 18 Secreted NA 0 PE1 NX_P18510 20055 177 5.83 2 Cytoplasm;Secreted Microvascular complications of diabetes 4;Interleukin 1 receptor antagonist deficiency 0 PE1 NX_P18545 9643 87 9.52 17 NA Retinitis pigmentosa 57 0 PE1 NX_P18564 85936 788 5.34 2 Nucleoplasm;Centrosome;Focal adhesion;Cell junction;Membrane Amelogenesis imperfecta 1H 1 PE1 NX_P18577 45560 417 9.45 1 Membrane Rh-null, amorph type 11 PE1 NX_P18583 263830 2426 5.5 21 Nucleus speckle;Nucleus ZTTK syndrome 0 PE1 NX_P18615 43240 380 9.36 6 Nucleoplasm;Nucleus NA 0 PE1 NX_P18621 21397 184 10.18 18 Cytosol;Endoplasmic reticulum NA 0 PE1 NX_P18627 57449 525 8.14 12 Membrane NA 1 PE1 NX_P18669 28804 254 6.67 10 NA NA 0 PE1 NX_P18754 44969 421 7.18 1 Cytoplasm;Nucleus;Chromosome;Nucleus membrane NA 0 PE1 NX_P18825 49522 462 10.32 4 Cell membrane NA 7 PE2 NX_P18827 32462 310 4.53 2 Focal adhesion;Secreted;Exosome;Membrane NA 1 PE1 NX_P18846 29233 271 8.44 12 Nucleoplasm;Nucleus Angiomatoid fibrous histiocytoma 0 PE1 NX_P18847 20576 181 8.8 1 Nucleolus;Nucleus NA 0 PE1 NX_P18848 38590 351 4.83 22 Cytosol;Cytoplasm;Cell membrane;Microtubule organizing center;Nucleus;Centrosome NA 0 PE1 NX_P18850 74585 670 8.36 1 Cytosol;Endoplasmic reticulum membrane;Nucleus Achromatopsia 7 1 PE1 NX_P18858 101736 919 5.49 19 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_P18859 12588 108 9.52 21 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_P18887 69477 633 6.02 19 Nucleoplasm;Nucleus Spinocerebellar ataxia, autosomal recessive, 26 0 PE1 NX_P19012 49212 456 4.71 17 Nucleoplasm;Cytoskeleton NA 0 PE1 NX_P19013 57285 534 6.25 12 Cytoskeleton White sponge nevus 1 0 PE1 NX_P19021 108332 973 5.98 5 Cytosol;Secreted;Golgi apparatus;Membrane NA 1 PE1 NX_P19022 99809 906 4.64 18 Sarcolemma;Cell surface;Cell junction;Cell membrane NA 1 PE1 NX_P19075 26044 237 5.48 12 Nucleoplasm;Membrane NA 4 PE1 NX_P19086 40924 355 7.53 22 Cytoplasmic vesicle;Membrane NA 0 PE1 NX_P19087 40176 354 5.1 1 NA Achromatopsia 4 0 PE1 NX_P19099 57560 503 9.47 8 Mitochondrion membrane Hyperaldosteronism, familial, 1;Corticosterone methyloxidase 1 deficiency;Corticosterone methyloxidase 2 deficiency 0 PE1 NX_P19105 19794 171 4.67 18 NA NA 0 PE1 NX_P19113 74141 662 8.3 15 NA NA 0 PE1 NX_P19174 148532 1290 5.73 20 Cytosol;Lamellipodium;Ruffle NA 0 PE1 NX_P19224 60751 532 8.66 2 Endoplasmic reticulum membrane;Microsome NA 1 PE1 NX_P19235 55065 508 4.64 19 Cytoplasmic vesicle;Cell membrane;Secreted Erythrocytosis, familial, 1 1 PE1 NX_P19237 21692 187 9.61 1 Nucleolus;Nucleus NA 0 PE1 NX_P19256 28147 250 6.3 1 Cell membrane NA 1 PE1 NX_P19320 81276 739 5.14 1 Cell junction;Membrane NA 1 PE1 NX_P19338 76614 710 4.6 2 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P19367 102486 917 6.36 10 Mitochondrion;Mitochondrion outer membrane Neuropathy, hereditary motor and sensory, Russe type;Retinitis pigmentosa 79;Hexokinase deficiency 0 PE1 NX_P19387 31441 275 4.79 16 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_P19388 24551 210 5.69 19 Nucleoplasm;Nucleus NA 0 PE1 NX_P19397 24341 219 7.48 1 Cell junction;Cell membrane;Membrane NA 4 PE1 NX_P19404 27392 249 8.22 18 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_P19419 44888 428 6.42 X Nucleoplasm;Nucleus NA 0 PE1 NX_P19429 24008 210 9.87 19 Cytosol;Cytoplasmic vesicle Cardiomyopathy, dilated 1FF;Cardiomyopathy, dilated 2A;Cardiomyopathy, familial restrictive 1;Cardiomyopathy, familial hypertrophic 7 0 PE1 NX_P19438 50495 455 6.23 12 Golgi apparatus membrane;Cell membrane;Secreted Multiple sclerosis 5;Familial hibernian fever 1 PE1 NX_P19440 61410 569 6.65 22 Cell membrane Glutathionuria 1 PE1 NX_P19447 89278 782 6.83 2 Nucleoplasm;Nucleus Trichothiodystrophy 2, photosensitive;Xeroderma pigmentosum complementation group B 0 PE1 NX_P19474 54170 475 5.98 11 Nucleoplasm;Cytoplasm;P-body;Nucleus;Autophagosome NA 0 PE1 NX_P19484 52865 476 5.87 6 Cytoplasm;Nucleus NA 0 PE1 NX_P19525 62094 551 8.58 2 Cytosol;Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 NX_P19526 41251 365 6.92 19 Golgi stack membrane NA 1 PE1 NX_P19532 61521 575 5.41 X Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_P19544 49188 449 9.23 11 Nucleoplasm;Nucleus speckle;Nucleolus;Nucleus;Cytoplasm Frasier syndrome;Denys-Drash syndrome;Mesothelioma, malignant;Meacham syndrome;Nephrotic syndrome 4;Wilms tumor 1 0 PE1 NX_P19622 34211 333 9.49 7 Nucleolus;Nucleus NA 0 PE1 NX_P19623 33825 302 5.3 1 Nucleoplasm;Cytosol NA 0 PE1 NX_P19634 90763 815 6.74 1 Endoplasmic reticulum membrane;Cell membrane;Membrane Lichtenstein-Knorr syndrome 12 PE1 NX_P19652 23603 201 5.03 9 Secreted NA 0 PE1 NX_P19784 41213 350 8.65 16 Nucleoplasm;Cytoplasmic vesicle;Cytosol NA 0 PE1 NX_P19793 50811 462 7.92 9 Nucleus;Golgi apparatus NA 0 PE1 NX_P19801 85378 751 6.6 7 Extracellular space NA 0 PE1 NX_P19823 106463 946 6.4 10 Golgi apparatus;Secreted NA 0 PE1 NX_P19827 101389 911 6.31 3 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_P19835 79322 753 5.13 9 Secreted Maturity-onset diabetes of the young 8 with exocrine dysfunction 0 PE1 NX_P19838 105356 968 5.2 4 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Immunodeficiency, common variable, 12 0 PE1 NX_P19875 11389 107 10.57 4 Secreted NA 0 PE1 NX_P19876 11342 107 10.4 4 Secreted NA 0 PE1 NX_P19878 59762 526 5.88 1 Cytosol;Cytoplasm;Nucleolus Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive 0 PE1 NX_P19883 38007 344 5.53 5 Secreted NA 0 PE1 NX_P19957 12270 117 9.14 20 Cell membrane;Secreted NA 0 PE1 NX_P19961 57710 511 6.64 1 Secreted NA 0 PE1 NX_P19971 49955 482 5.36 22 Nucleus;Golgi apparatus Mitochondrial DNA depletion syndrome 1, MNGIE type 0 PE1 NX_P20020 134685 1220 5.65 12 Cell membrane NA 10 PE1 NX_P20023 112916 1033 7.74 1 Membrane Immunodeficiency, common variable, 7;Systemic lupus erythematosus 9 1 PE1 NX_P20036 29381 260 5.07 6 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane NA 1 PE1 NX_P20039 30160 266 6.71 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 NX_P20042 38388 333 5.6 20 Cytoplasm;Nucleolus;Endoplasmic reticulum NA 0 PE1 NX_P20061 48207 433 4.96 11 Secreted NA 0 PE1 NX_P20062 47535 427 6.52 22 Cytosol;Secreted Transcobalamin II deficiency 0 PE1 NX_P20073 52739 488 5.52 10 Nucleoplasm;Cytosol NA 0 PE1 NX_P20132 34625 328 8.15 12 Cytosol;Cytoplasm;Mitochondrion NA 0 PE1 NX_P20138 39825 364 8.68 19 Nucleus;Cell membrane;Peroxisome NA 1 PE1 NX_P20142 42426 388 4.36 6 Nucleus;Secreted NA 0 PE1 NX_P20151 28671 261 6.44 19 NA NA 0 PE1 NX_P20155 9291 84 9.3 4 Secreted NA 0 PE1 NX_P20160 26886 251 9.75 19 Cytoplasmic granule membrane NA 0 PE1 NX_P20226 37698 339 9.8 6 Nucleoplasm;Nucleus Spinocerebellar ataxia 17 0 PE1 NX_P20231 30515 275 6.62 16 Secreted NA 0 PE1 NX_P20248 48551 432 6.1 4 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_P20264 50327 500 7.51 2 Nucleus NA 0 PE1 NX_P20265 46893 443 7.51 6 Nucleus NA 0 PE1 NX_P20273 95348 847 6.21 19 Cell membrane NA 1 PE1 NX_P20290 22168 206 9.41 5 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P20292 18157 161 8.58 13 Endoplasmic reticulum membrane;Nucleus membrane Ischemic stroke 4 PE1 NX_P20309 66128 590 9.33 1 Basolateral cell membrane;Postsynaptic cell membrane;Cell membrane Prune belly syndrome 7 PE1 NX_P20333 48291 461 5.88 1 Cell membrane;Secreted NA 1 PE1 NX_P20336 24984 220 4.85 19 Nucleoplasm;Cytosol;Centrosome;Cell membrane NA 0 PE1 NX_P20337 24758 219 4.85 1 Golgi apparatus;Cell junction;Cell membrane NA 0 PE1 NX_P20338 24390 218 5.82 1 Cytoplasm;Early endosome membrane;Recycling endosome membrane;Membrane NA 0 PE1 NX_P20339 23659 215 8.32 3 Endosome membrane;Ruffle;Cytosol;Early endosome membrane;Cell membrane;Cytoplasmic vesicle;Membrane;Phagosome membrane;Melanosome NA 0 PE1 NX_P20340 23593 208 5.42 11 Golgi apparatus membrane NA 0 PE1 NX_P20366 15003 129 8.89 7 Secreted NA 0 PE1 NX_P20382 18679 165 6.74 12 Secreted NA 0 PE1 NX_P20393 66805 614 8.83 17 Dendrite;Nucleus;Dendritic spine;Cytoplasm NA 0 PE1 NX_P20396 27404 242 5.34 3 Secreted NA 0 PE1 NX_P20472 12059 110 4.98 22 Nucleoplasm;Nucleolus;Cell junction NA 0 PE1 NX_P20585 127412 1137 8.2 5 Nucleus Endometrial cancer;Familial adenomatous polyposis 4 0 PE1 NX_P20591 75520 662 5.6 21 Endoplasmic reticulum membrane;Nucleus membrane;Cytosol;Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 NX_P20592 82089 715 8.91 21 Cytoplasm;Nuclear pore complex;Nucleus NA 0 PE1 NX_P20594 117022 1047 6.41 9 Cell membrane Epiphyseal chondrodysplasia, Miura type;Short stature with non-specific skeletal abnormalities;Acromesomelic dysplasia, Maroteaux type 1 PE1 NX_P20618 26489 241 8.27 6 Cytoplasm;Nucleus NA 0 PE1 NX_P20645 30993 277 5.57 12 Lysosome membrane NA 1 PE1 NX_P20648 114119 1035 5.58 19 Cell membrane NA 10 PE1 NX_P20671 14107 130 10.9 6 Nucleus;Chromosome NA 0 PE1 NX_P20674 16762 150 6.3 15 Mitochondrion inner membrane NA 0 PE1 NX_P20700 66408 586 5.11 5 Nucleus inner membrane;Nucleus;Nucleus membrane Leukodystrophy, demyelinating, autosomal dominant, adult-onset 0 PE1 NX_P20701 128770 1170 5.4 16 Cell membrane NA 1 PE1 NX_P20702 127829 1163 6.19 16 Membrane NA 1 PE1 NX_P20711 53926 480 6.77 7 Cytoskeleton Aromatic L-amino-acid decarboxylase deficiency 0 PE1 NX_P20718 27315 246 9.83 14 Cytoplasmic granule NA 0 PE1 NX_P20719 29345 270 9.32 7 Nucleus NA 0 PE1 NX_P20742 163863 1482 5.97 12 Secreted NA 0 PE1 NX_P20749 47584 454 8.72 19 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Perinuclear region;Nucleus;Midbody NA 0 PE1 NX_P20774 33922 298 5.46 9 Endoplasmic reticulum;Extracellular matrix NA 0 PE1 NX_P20783 29355 257 9.46 12 Secreted NA 0 PE1 NX_P20794 70581 623 9.67 6 Photoreceptor outer segment;Midbody;Nucleus;Photoreceptor inner segment;Spindle;Centrosome Retinitis pigmentosa 62 0 PE1 NX_P20800 19960 178 10.3 1 Cytosol;Secreted NA 0 PE1 NX_P20807 94254 821 5.81 15 Cytoplasm Limb-girdle muscular dystrophy 2A 0 PE1 NX_P20809 21429 199 10.64 19 Mitochondrion;Secreted NA 0 PE1 NX_P20810 76573 708 4.98 5 Cytosol;Cytoplasm;Endoplasmic reticulum Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 0 PE1 NX_P20813 56278 491 8.43 19 Endoplasmic reticulum membrane;Microsome membrane;Cytosol;Nucleus membrane;Nucleoplasm NA 0 PE1 NX_P20815 57109 502 8.86 7 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_P20823 67356 631 5.82 12 Nucleoplasm;Nucleus Diabetes mellitus, insulin-dependent, 20;Hepatic adenomas familial;Maturity-onset diabetes of the young 3 0 PE1 NX_P20827 23787 205 6.34 1 Cell membrane;Secreted NA 0 PE1 NX_P20839 55406 514 6.43 7 Cytoplasm;Nucleus Leber congenital amaurosis 11;Retinitis pigmentosa 10 0 PE1 NX_P20848 47891 420 7.73 14 Endoplasmic reticulum NA 0 PE1 NX_P20849 91869 921 8.94 6 Extracellular matrix Multiple epiphyseal dysplasia 6;Stickler syndrome 4 0 PE1 NX_P20851 28357 252 5.05 1 Secreted NA 0 PE1 NX_P20853 56425 494 7.69 19 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_P20908 183560 1838 4.94 9 Cytoplasmic vesicle;Extracellular matrix Ehlers-Danlos syndrome, classic type, 1 0 PE1 NX_P20916 69069 626 4.97 19 Membrane raft;Cell membrane Spastic paraplegia 75, autosomal recessive 1 PE1 NX_P20929 772914 6669 9.11 2 Sarcomere;Cytoskeleton Nemaline myopathy 2 0 PE1 NX_P20930 435170 4061 9.24 1 Cytoplasmic vesicle;Cytoplasmic granule Dermatitis atopic 2;Ichthyosis vulgaris 0 PE1 NX_P20933 37208 346 5.86 4 Lysosome Aspartylglucosaminuria 0 PE1 NX_P20936 116403 1047 6.11 5 Cytoplasm Parkes Weber syndrome;Capillary malformation-arteriovenous malformation 0 PE1 NX_P20941 28246 246 5.08 1 Photoreceptor inner segment;Cytosol;Nucleus;Photoreceptor outer segment NA 0 PE1 NX_P20962 11530 102 4.14 12 Nucleolus;Nucleus NA 0 PE1 NX_P20963 18696 164 9.28 1 Membrane Immunodeficiency 25 1 PE1 NX_P21108 34839 318 5.92 7 NA NA 0 PE1 NX_P21127 92620 795 5.42 1 Cytoplasm;Nucleus NA 0 PE1 NX_P21128 46872 410 5.26 12 Secreted NA 0 PE1 NX_P21145 16714 153 5.55 2 Centrosome;Golgi apparatus;Membrane NA 4 PE1 NX_P21217 42117 361 9.16 19 Golgi stack membrane NA 1 PE1 NX_P21246 18942 168 9.66 7 Golgi apparatus;Secreted NA 0 PE1 NX_P21266 26560 225 5.37 1 Cytoplasm NA 0 PE1 NX_P21281 56501 511 5.57 8 Cytoplasmic vesicle;Melanosome;Endomembrane system Zimmermann-Laband syndrome 2;Deafness, congenital, with onychodystrophy, autosomal dominant 0 PE1 NX_P21283 43942 382 7.02 8 Cytosol;Nucleoplasm NA 0 PE1 NX_P21291 20567 193 8.9 1 Nucleus NA 0 PE1 NX_P21333 280739 2647 5.7 X Cytosol;Cytoskeleton;Cell cortex;Cell membrane FG syndrome 2;Frontometaphyseal dysplasia 1;Periventricular nodular heterotopia 1;Cardiac valvular dysplasia X-linked;Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked;Otopalatodigital syndrome 1;Melnick-Needles syndrome;Otopalatodigital syndrome 2;Terminal osseous dysplasia;Congenital short bowel syndrome, X-linked 0 PE1 NX_P21359 319372 2839 7.1 17 Mitochondrion;Nucleolus;Nucleus Familial spinal neurofibromatosis;Colorectal cancer;Neurofibromatosis-Noonan syndrome;Neurofibromatosis 1;Leukemia, juvenile myelomonocytic;Watson syndrome 0 PE1 NX_P21397 59682 527 7.94 X Mitochondrion;Mitochondrion outer membrane Brunner syndrome 1 PE1 NX_P21399 98399 889 6.23 9 Cytosol;Cytoplasm;Mitochondrion NA 0 PE1 NX_P21439 141523 1286 8.65 7 Apical cell membrane;Nucleoplasm;Cytoplasm;Cell membrane;Focal adhesion;Cytoskeleton;Clathrin-coated vesicle;Membrane raft Gallbladder disease 1;Cholestasis of pregnancy, intrahepatic 3;Cholestasis, progressive familial intrahepatic, 3 12 PE1 NX_P21452 44442 398 8.86 10 Cell membrane NA 7 PE1 NX_P21453 42811 382 9.59 1 Cytoplasmic vesicle;Endosome;Membrane raft;Cell membrane NA 7 PE1 NX_P21462 38446 350 9.23 19 Nucleolus;Nucleus;Cell membrane;Golgi apparatus NA 7 PE1 NX_P21506 66455 573 8.68 12 Cytoplasmic vesicle;Nucleus;Cell membrane NA 0 PE1 NX_P21549 43010 392 8.61 2 Mitochondrion;Cytoplasmic vesicle;Peroxisome Hyperoxaluria primary 1 0 PE1 NX_P21554 52858 472 8.47 6 Axon;Membrane raft;Cell membrane;Mitochondrion outer membrane Obesity 7 PE1 NX_P21579 47573 422 8.26 12 Cytoplasm;Synaptic vesicle membrane;Chromaffin granule membrane;Secretory vesicle membrane NA 1 PE1 NX_P21580 89614 790 8.61 6 Cytoplasmic vesicle;Cytoplasm;Nucleus;Lysosome Autoinflammatory syndrome, familial, Behcet-like 0 PE1 NX_P21583 30899 273 5.86 12 Secreted;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Filopodium;Lamellipodium;Cytoskeleton Deafness, congenital, unilateral or asymmetric;Hyperpigmentation with or without hypopigmentation, familial progressive 1 PE1 NX_P21589 63368 574 6.58 6 Cytosol;Nucleoplasm;Cell membrane Calcification of joints and arteries 0 PE1 NX_P21673 20024 171 5.09 X Cytoplasm;Nucleus Keratosis follicularis spinulosa decalvans X-linked 0 PE1 NX_P21675 212677 1872 4.97 X Nucleoplasm;Nucleus Mental retardation, X-linked, syndromic, 33;Dystonia 3, torsion, X-linked 0 PE1 NX_P21695 37568 349 5.81 12 Cytoplasm Hypertriglyceridemia, transient infantile 0 PE1 NX_P21709 108127 976 6.2 7 Cell membrane NA 1 PE1 NX_P21728 49293 446 8.64 5 Endoplasmic reticulum membrane;Cell membrane NA 7 PE1 NX_P21730 39336 350 9.22 19 Cytoplasmic vesicle;Cell membrane NA 7 PE1 NX_P21731 37431 343 10 19 Nucleus speckle;Cell membrane Bleeding disorder, platelet-type 13 7 PE1 NX_P21741 15585 143 9.84 11 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_P21754 47018 424 5.49 7 Cytoplasm;Cell membrane;Extracellular matrix Oocyte maturation defect 3 1 PE1 NX_P21757 49762 451 5.61 8 Membrane Barrett esophagus;Prostate cancer 1 PE1 NX_P21781 22509 194 9.29 15 Nucleolus;Nucleus;Secreted NA 0 PE1 NX_P21796 30773 283 8.62 5 Cytosol;Membrane raft;Cell membrane;Mitochondrion outer membrane NA 19 PE1 NX_P21802 92025 821 5.61 10 Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Secreted Lacrimo-auriculo-dento-digital syndrome;Pfeiffer syndrome;Familial scaphocephaly syndrome;Saethre-Chotzen syndrome;Crouzon syndrome;Jackson-Weiss syndrome;Beare-Stevenson cutis gyrata syndrome;Bent bone dysplasia syndrome;Apert syndrome;Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis 1 PE1 NX_P21810 41654 368 7.16 X Endoplasmic reticulum;Golgi apparatus;Extracellular matrix Meester-Loeys syndrome;Spondyloepimetaphyseal dysplasia, X-linked 0 PE1 NX_P21815 35148 317 4.14 4 Secreted NA 0 PE1 NX_P21817 565176 5038 5.18 19 Cytoplasmic vesicle;Cytosol;Sarcoplasmic reticulum;Golgi apparatus;Sarcoplasmic reticulum membrane Central core disease of muscle;Multiminicore disease with external ophthalmoplegia;Malignant hyperthermia 1 6 PE1 NX_P21854 40220 359 8.62 9 Mitochondrion;Nucleus;Membrane NA 1 PE1 NX_P21860 148098 1342 6.11 12 Cytoskeleton;Cell membrane;Secreted Lethal congenital contracture syndrome 2 1 PE1 NX_P21912 31630 280 9.03 1 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane;Cell membrane Paraganglioma and gastric stromal sarcoma;Pheochromocytoma;Paragangliomas 4 0 PE1 NX_P21917 48361 467 8.79 11 Cell membrane NA 7 PE1 NX_P21918 52951 477 5.23 4 Cell membrane Benign essential blepharospasm 7 PE1 NX_P21926 25416 228 6.8 12 Cytoplasm;Exosome;Cell membrane;Membrane NA 4 PE1 NX_P21941 53701 496 7.85 1 Extracellular matrix NA 0 PE1 NX_P21953 43122 392 5.89 6 Mitochondrion matrix Maple syrup urine disease 1B 0 PE1 NX_P21964 30037 271 5.26 22 Cytoplasmic vesicle;Cytoplasm;Cell membrane;Endoplasmic reticulum Schizophrenia 1 PE1 NX_P21980 77329 687 5.11 20 Cytosol;Cell membrane NA 0 PE1 NX_P22001 63842 575 5.61 1 Cell membrane NA 6 PE1 NX_P22003 51737 454 9.07 6 Secreted NA 0 PE1 NX_P22004 57226 513 8.39 6 Mitochondrion;Secreted NA 0 PE1 NX_P22033 83134 750 6.48 6 Mitochondrion matrix;Mitochondrion;Cytosol Methylmalonic aciduria type mut 0 PE1 NX_P22059 89421 807 6.91 11 Endoplasmic reticulum membrane;Golgi apparatus;Cytosol;Perinuclear region;Nucleus;trans-Golgi network;Golgi apparatus membrane NA 0 PE1 NX_P22061 24636 227 6.7 6 Cytosol;Cytoplasm NA 0 PE1 NX_P22079 80288 712 8.89 17 Secreted NA 0 PE1 NX_P22083 59084 530 10.04 11 Cytoplasmic vesicle;Golgi stack membrane NA 1 PE1 NX_P22087 33784 321 10.18 19 Nucleolus;Nucleus NA 0 PE1 NX_P22090 29456 263 10.25 Y NA NA 0 PE1 NX_P22102 107767 1010 6.26 21 Cytosol;Mitochondrion;Nucleoplasm NA 0 PE1 NX_P22105 458388 4244 5.05 6 Extracellular matrix Vesicoureteral reflux 8;Ehlers-Danlos syndrome, classic-like 0 PE1 NX_P22223 91418 829 4.61 16 Cytosol;Cell junction;Cell membrane Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome;Hypotrichosis congenital with juvenile macular dystrophy 1 PE1 NX_P22234 47079 425 6.94 4 Cytosol NA 0 PE1 NX_P22301 20517 178 8.19 1 Secreted NA 0 PE1 NX_P22303 67796 614 5.87 7 Synapse;Golgi apparatus;Secreted;Cell membrane;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P22304 61873 550 5.21 X Endoplasmic reticulum;Lysosome Mucopolysaccharidosis 2 0 PE1 NX_P22307 58994 547 6.44 1 Mitochondrion;Cytoplasm;Peroxisome Leukoencephalopathy with dystonia and motor neuropathy 0 PE1 NX_P22309 59591 533 8.19 2 Endoplasmic reticulum membrane;Microsome;Endoplasmic reticulum Crigler-Najjar syndrome 1;Crigler-Najjar syndrome 2;Transient familial neonatal hyperbilirubinemia;Gilbert syndrome 1 PE1 NX_P22310 60025 534 8.79 2 Endoplasmic reticulum membrane;Microsome NA 1 PE1 NX_P22314 117849 1058 5.49 X Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus Spinal muscular atrophy X-linked 2 0 PE1 NX_P22352 25552 226 8.26 5 Secreted NA 0 PE1 NX_P22362 10992 96 9.3 17 Secreted NA 0 PE1 NX_P22392 17298 152 8.52 17 Cytoplasm;Nucleus;Ruffle;Lamellipodium NA 0 PE1 NX_P22413 104924 925 6.76 6 Basolateral cell membrane;Cell membrane;Secreted Ossification of the posterior longitudinal ligament of the spine;Hypophosphatemic rickets, autosomal recessive, 2;Diabetes mellitus, non-insulin-dependent;Arterial calcification of infancy, generalized, 1;Cole disease 1 PE1 NX_P22415 33538 310 5.36 1 Nucleoplasm;Nucleus Hyperlipidemia combined 1 0 PE1 NX_P22455 87954 802 6.36 5 Cytoplasm;Endosome;Endoplasmic reticulum;Cell membrane;Secreted Prostate cancer 1 PE1 NX_P22459 73257 653 5.08 11 Axon;Cell membrane NA 6 PE1 NX_P22460 67228 613 5.68 12 Cell membrane Atrial fibrillation, familial, 7 6 PE1 NX_P22466 13302 123 6.84 11 Cytoplasmic vesicle;Golgi apparatus;Secreted Epilepsy, familial temporal lobe, 8 0 PE1 NX_P22492 22019 207 11.71 6 Nucleus;Chromosome NA 0 PE1 NX_P22528 9888 89 8.85 1 Cytoplasm NA 0 PE1 NX_P22531 7855 72 8.73 1 Cytoplasm NA 0 PE2 NX_P22532 7905 72 8.77 1 Cytoplasm NA 0 PE2 NX_P22557 64633 587 8.39 X Mitochondrion matrix Erythropoietic protoporphyria, X-linked dominant;Anemia, sideroblastic, 1 0 PE1 NX_P22570 53837 491 8.72 17 Mitochondrion;Mitochondrion inner membrane Auditory neuropathy and optic atrophy 0 PE1 NX_P22607 87710 806 5.59 4 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane;Secreted Muenke syndrome;Testicular germ cell tumor;Lacrimo-auriculo-dento-digital syndrome;Keratosis, seborrheic;Bladder cancer;Keratinocytic non-epidermolytic nevus;Multiple myeloma;Achondroplasia;Camptodactyly, tall stature, and hearing loss syndrome;Thanatophoric dysplasia 1;Achondroplasia, severe, with developmental delay and acanthosis nigricans;Hypochondroplasia;Thanatophoric dysplasia 2;Crouzon syndrome with acanthosis nigricans;Cervical cancer 1 PE1 NX_P22612 40434 351 8.7 9 NA Bleeding disorder, platelet-type 19 0 PE1 NX_P22626 37430 353 8.97 7 Nucleoplasm;Cytoplasm;Nucleus;Exosome;Cytoplasmic granule Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 0 PE1 NX_P22670 104758 979 5.89 19 Nucleoplasm;Nucleus NA 0 PE1 NX_P22674 38096 350 8.44 5 Cytoplasm Ciliary dyskinesia, primary, 29 0 PE1 NX_P22676 31540 271 5.06 16 Cytosol NA 0 PE1 NX_P22680 57661 504 8.48 8 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_P22681 99633 906 6.1 11 Cytosol;Cytoplasm;Golgi apparatus;Cilium;Cell membrane Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 0 PE1 NX_P22692 27934 258 6.81 17 Secreted NA 0 PE1 NX_P22694 40623 351 8.84 1 Cytoplasm;Nucleus;Cell membrane;Membrane NA 0 PE1 NX_P22695 48443 453 8.74 16 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 5 0 PE1 NX_P22732 54974 501 5.81 1 Apical cell membrane;Sarcolemma;Cell membrane NA 12 PE1 NX_P22735 89787 817 5.68 14 Membrane Ichthyosis, congenital, autosomal recessive 1 0 PE1 NX_P22736 64463 598 6.82 12 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P22748 35032 312 7.68 17 Cytoplasmic vesicle;Cell membrane Retinitis pigmentosa 17 0 PE1 NX_P22749 16374 145 9.39 2 Secreted NA 0 PE1 NX_P22760 45734 399 8.75 3 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_P22792 60557 545 5.63 3 Secreted NA 0 PE1 NX_P22794 26213 236 8.73 17 Nucleoplasm;Nucleus;Membrane NA 1 PE1 NX_P22830 47862 423 8.96 18 Mitochondrion inner membrane Protoporphyria, erythropoietic, 1 0 PE1 NX_P22888 78643 699 8.82 2 Cell membrane Familial male precocious puberty;Luteinizing hormone resistance 7 PE1 NX_P22891 44744 400 5.64 13 Secreted NA 0 PE1 NX_P22894 53412 467 6.38 11 Cytoplasmic granule;Extracellular matrix NA 0 PE1 NX_P22897 166012 1456 6.11 10 Endosome membrane;Cell membrane NA 1 PE1 NX_P22914 21007 178 6.44 3 Cytosol Cataract 20, multiple types 0 PE1 NX_P23025 31368 273 6.29 9 Cytoskeleton;Nucleus Xeroderma pigmentosum complementation group A 0 PE1 NX_P23083 13085 117 9.23 14 Cell membrane;Secreted NA 0 PE1 NX_P23109 90219 780 6.53 1 NA Myopathy due to myoadenylate deaminase deficiency 0 PE1 NX_P23141 62521 567 6.15 16 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 NX_P23142 77214 703 5.07 22 Endoplasmic reticulum;Extracellular matrix NA 0 PE1 NX_P23193 33970 301 8.65 8 Nucleolus;Nucleus NA 0 PE1 NX_P23219 68686 599 6.81 9 Endoplasmic reticulum membrane;Microsome membrane;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_P23229 126606 1130 6.21 2 Cell membrane Epidermolysis bullosa letalis, with pyloric atresia 1 PE1 NX_P23246 76149 707 9.45 1 Nucleoplasm;Cytoplasm;Nucleus matrix;Nucleus speckle NA 0 PE1 NX_P23258 51170 451 5.75 17 Centrosome Cortical dysplasia, complex, with other brain malformations 4 0 PE1 NX_P23276 82824 732 8.09 7 Cell membrane NA 1 PE1 NX_P23280 35367 308 6.51 1 Secreted NA 0 PE1 NX_P23284 23743 216 9.42 15 Nucleus;Endoplasmic reticulum lumen;Melanosome;Endoplasmic reticulum Osteogenesis imperfecta 9 0 PE1 NX_P23297 10546 94 4.39 1 Cytoplasm NA 0 PE1 NX_P23327 80244 699 4.62 19 Sarcoplasmic reticulum lumen NA 0 PE1 NX_P23352 76112 680 9.33 X Cell membrane;Secreted Hypogonadotropic hypogonadism 1 with or without anosmia 0 PE1 NX_P23368 65444 584 7.52 18 Mitochondrion matrix;Mitochondrion NA 0 PE1 NX_P23378 112730 1020 6.68 9 Mitochondrion;Nucleus Non-ketotic hyperglycinemia 0 PE1 NX_P23381 53165 471 5.83 14 Cytosol;Cytoplasm Neuronopathy, distal hereditary motor, 9 0 PE1 NX_P23396 26688 243 9.68 11 Nucleolus;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleus;Mitochondrion inner membrane;Spindle NA 0 PE1 NX_P23409 26953 242 5.71 12 Nucleus Myopathy, centronuclear, 3 0 PE1 NX_P23415 52624 457 8.97 5 Dendrite;Synapse;Postsynaptic cell membrane;Perikaryon;Cell membrane Hyperekplexia 1 4 PE1 NX_P23416 52002 452 9.06 X Cell projection;Synapse;Postsynaptic cell membrane;Cell membrane NA 4 PE1 NX_P23434 18885 173 4.91 16 Cytoplasmic vesicle;Mitochondrion Non-ketotic hyperglycinemia 0 PE1 NX_P23435 21097 193 6.73 16 Postsynaptic cell membrane;Secreted NA 0 PE1 NX_P23443 59140 525 6.21 17 Synaptosome;Nucleoplasm;Cytoplasm;Mitochondrion outer membrane;Nucleus;Mitochondrion NA 0 PE1 NX_P23458 133277 1154 7.48 1 Endomembrane system NA 0 PE1 NX_P23467 224301 1997 7.44 12 Cytoplasmic vesicle;Cell junction;Cell membrane;Membrane NA 1 PE1 NX_P23468 214760 1912 6.14 9 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_P23469 80642 700 6.57 10 Cytoplasm;Cytoskeleton;Cell membrane NA 1 PE1 NX_P23470 162003 1445 5.99 3 Membrane NA 1 PE1 NX_P23471 254587 2315 4.76 7 Cytosol;Cell membrane;Secreted NA 1 PE1 NX_P23490 25761 312 8.5 1 Nucleoplasm;Cytoplasm Vohwinkel syndrome with ichthyosis 0 PE1 NX_P23497 100417 879 8.49 2 PML body;Nucleus;Cytoplasm NA 0 PE1 NX_P23508 93027 829 5.4 5 Nucleoplasm;Lamellipodium;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 NX_P23510 21050 183 6.95 1 Cytoplasmic vesicle;Nucleus;Membrane Systemic lupus erythematosus 1 PE1 NX_P23511 36877 347 8.89 6 Nucleoplasm;Nucleus NA 0 PE1 NX_P23515 49608 440 8.06 17 Cell membrane NA 0 PE1 NX_P23526 47716 432 5.92 20 Cytosol;Cytoplasm;Melanosome Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency 0 PE1 NX_P23527 13906 126 10.31 6 Nucleus;Chromosome NA 0 PE1 NX_P23528 18502 166 8.22 11 Lamellipodium;Cytoskeleton;Nucleus matrix;Lamellipodium membrane;Ruffle membrane NA 0 PE1 NX_P23560 27818 247 9.01 11 Mitochondrion;Nucleus speckle;Secreted Congenital central hypoventilation syndrome 0 PE1 NX_P23582 13246 126 10.25 2 Secreted NA 0 PE1 NX_P23588 69151 611 5.55 12 Cytosol NA 0 PE1 NX_P23610 39103 371 6.37 X Nucleus NA 0 PE1 NX_P23634 137920 1241 6.19 1 Flagellum membrane;Cell membrane NA 10 PE1 NX_P23677 51009 461 7.59 15 Cytoplasmic vesicle NA 0 PE1 NX_P23743 82630 735 6.28 12 Nucleoplasm;Cytoplasmic vesicle;Mitochondrion NA 0 PE1 NX_P23759 55119 505 9.1 1 Nucleus Rhabdomyosarcoma 2 0 PE1 NX_P23760 52968 479 8.92 2 Nucleoplasm;Nucleus Waardenburg syndrome 3;Rhabdomyosarcoma 2;Craniofacial-deafness-hand syndrome;Waardenburg syndrome 1 0 PE1 NX_P23763 12902 118 6.24 12 Synaptosome;Synaptic vesicle membrane;Cytoplasmic vesicle membrane;Mitochondrion outer membrane Spastic ataxia 1, autosomal dominant 1 PE1 NX_P23769 50500 480 9.43 3 Nucleoplasm;Nucleus Lymphedema, primary, with myelodysplasia;Myelodysplastic syndrome;Immunodeficiency 21 0 PE1 NX_P23771 47916 443 9.52 10 Nucleoplasm;Nucleus Hypoparathyroidism, sensorineural deafness, and renal disease 0 PE1 NX_P23786 73777 658 8.38 1 Nucleoplasm;Mitochondrion;Nucleolus;Mitochondrion inner membrane Carnitine palmitoyltransferase 2 deficiency, infantile;Encephalopathy, acute, infection-induced, 4;Carnitine palmitoyltransferase 2 deficiency, lethal neonatal;Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced 0 PE1 NX_P23919 23819 212 8.4 2 Mitochondrion NA 0 PE1 NX_P23921 90070 792 6.76 11 Cytosol;Cytoplasm NA 0 PE1 NX_P23942 39186 346 8.5 6 Membrane Macular dystrophy, patterned, 1;Choroidal dystrophy, central areolar 2;Retinitis pigmentosa 7;Macular dystrophy, vitelliform, 3;Retinitis punctata albescens 4 PE1 NX_P23945 78265 695 6.77 2 Cell membrane Ovarian hyperstimulation syndrome;Ovarian dysgenesis 1 7 PE1 NX_P23946 27325 247 9.44 14 Cytoplasmic granule;Secreted NA 0 PE1 NX_P23975 69332 617 7.18 16 Mitochondrion;Cytosol;Cell membrane Orthostatic intolerance 12 PE1 NX_P24001 26676 234 5.14 16 Secreted NA 0 PE1 NX_P24043 343905 3122 6.01 6 Basement membrane Merosin-deficient congenital muscular dystrophy 1A 0 PE1 NX_P24046 55883 479 8.71 6 Postsynaptic cell membrane;Cell membrane NA 4 PE2 NX_P24071 32265 287 6.44 19 Cell membrane;Secreted NA 1 PE1 NX_P24158 27807 256 8.72 19 Cytoplasmic granule;Membrane raft;Cell membrane;Secreted NA 0 PE1 NX_P24278 48990 435 6.09 14 Nucleoplasm;Nucleus NA 0 PE1 NX_P24298 54637 496 6.77 8 Cytoplasm NA 0 PE1 NX_P24310 9118 79 10.12 19 Mitochondrion inner membrane NA 1 PE1 NX_P24311 9161 80 10.28 X Mitochondrion inner membrane Linear skin defects with multiple congenital anomalies 2 1 PE1 NX_P24347 54590 488 6.38 22 Extracellular matrix NA 0 PE1 NX_P24385 33729 295 4.97 11 Nucleoplasm;Cytoplasm;Nucleus;Membrane Multiple myeloma 0 PE1 NX_P24386 73476 653 4.68 X Cytosol;Nucleoplasm Choroideremia 0 PE1 NX_P24387 36144 322 6.06 5 Secreted NA 0 PE1 NX_P24390 24542 212 8.8 19 Endoplasmic reticulum membrane;COPI-coated vesicle membrane;Cytoplasmic vesicle;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus NA 7 PE1 NX_P24394 89658 825 4.99 16 Cell membrane;Secreted NA 1 PE1 NX_P24462 57470 503 9.16 7 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_P24468 45571 414 8.66 15 Nucleus Congenital heart defects, multiple types, 4 0 PE1 NX_P24522 18336 165 4.36 1 Nucleus speckle;Nucleus NA 0 PE1 NX_P24530 49644 442 9.15 13 Cytosol;Cell membrane Hirschsprung disease 2;Waardenburg syndrome 4A;ABCD syndrome 7 PE1 NX_P24534 24764 225 4.5 2 Cytosol;Nucleolus NA 0 PE1 NX_P24539 28909 256 9.37 1 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_P24557 60518 533 7.56 7 Endoplasmic reticulum membrane;Cytoplasmic vesicle Ghosal hematodiaphyseal dysplasia 4 PE1 NX_P24588 47088 427 4.87 14 Nucleoplasm;Membrane NA 0 PE1 NX_P24592 25322 240 8.15 12 Secreted NA 0 PE1 NX_P24593 30570 272 8.58 2 Cytoplasmic vesicle;Nucleus;Golgi apparatus;Secreted NA 0 PE1 NX_P24666 18042 158 6.29 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P24723 77828 683 7.94 14 Cytosol;Cytoplasm;Cell membrane Ischemic stroke 0 PE1 NX_P24752 45200 427 8.98 11 Mitochondrion 3-ketothiolase deficiency 0 PE1 NX_P24821 240853 2201 4.79 9 Extracellular matrix Deafness, autosomal dominant, 56 0 PE1 NX_P24844 19827 172 4.8 20 NA NA 0 PE1 NX_P24855 31434 282 4.71 16 Cytoplasmic vesicle;Nucleus envelope;Endoplasmic reticulum;Secreted Systemic lupus erythematosus 0 PE1 NX_P24863 33243 283 6.95 6 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_P24864 47077 410 5.7 19 Nucleoplasm;Nucleus NA 0 PE1 NX_P24903 55501 491 6.93 19 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_P24928 217176 1970 7.02 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P24941 33930 298 8.8 12 Cajal body;Endosome;Cytosol;Cytoplasm;Nucleoplasm;Centrosome NA 0 PE1 NX_P25021 40098 359 9.36 5 Cell membrane NA 7 PE2 NX_P25024 39791 350 8.98 2 Cell membrane NA 7 PE1 NX_P25025 40759 360 8.66 2 Cell membrane NA 7 PE1 NX_P25054 311646 2843 7.92 5 Cytoplasm;Cell membrane;Ruffle membrane;Adherens junction;Lamellipodium;Cytoskeleton Gastric cancer;Hereditary desmoid disease;Hepatocellular carcinoma;Medulloblastoma;Familial adenomatous polyposis 0 PE1 NX_P25063 8083 80 9.69 6 Cell membrane Multiple sclerosis 0 PE1 NX_P25067 67244 703 9.05 1 Basement membrane;Golgi apparatus Corneal dystrophy, Fuchs endothelial, 1;Corneal dystrophy, posterior polymorphous, 2 0 PE1 NX_P25089 39965 353 8.12 19 Cell membrane NA 7 PE1 NX_P25090 38964 351 8.09 19 Cell membrane NA 7 PE1 NX_P25092 123403 1073 6.77 12 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cell membrane Diarrhea 6;Meconium ileus 1 PE1 NX_P25098 79574 689 6.89 11 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA 0 PE1 NX_P25100 60463 572 9.41 20 Cell membrane NA 7 PE1 NX_P25101 48722 427 8.73 4 Cell membrane Mandibulofacial dysostosis with alopecia 7 PE1 NX_P25103 46251 407 6.78 2 Cell membrane NA 7 PE1 NX_P25105 39203 342 9.2 1 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA 7 PE1 NX_P25106 41493 362 7.52 2 Cytoplasmic vesicle;Perinuclear region;Recycling endosome;Cell membrane;Early endosome NA 7 PE1 NX_P25116 47441 425 8.62 5 Cell membrane NA 7 PE1 NX_P25189 27555 248 9.57 1 Myelin membrane;Cell membrane Charcot-Marie-Tooth disease, dominant, intermediate type, D;Neuropathy, congenital hypomyelinating or amyelinating;Adie pupil;Dejerine-Sottas syndrome;Roussy-Levy syndrome;Charcot-Marie-Tooth disease 1B;Charcot-Marie-Tooth disease 2I;Charcot-Marie-Tooth disease 2J 1 PE1 NX_P25205 90981 808 5.53 6 Nucleoplasm;Nucleus NA 0 PE1 NX_P25208 22831 207 4.46 12 Nucleoplasm;Nucleus NA 0 PE1 NX_P25311 34259 298 5.71 7 Secreted NA 0 PE1 NX_P25325 33178 297 6.13 22 Mitochondrion;Cytoplasm;Cytosol;Synaptosome NA 0 PE1 NX_P25391 337084 3075 5.93 18 Basement membrane Poretti-Boltshauser syndrome 0 PE1 NX_P25398 14515 132 6.81 6 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Cytosol;Golgi apparatus NA 0 PE1 NX_P25440 88061 801 9.13 6 Nucleus speckle;Nucleus NA 0 PE1 NX_P25445 37732 335 8.29 10 Cytosol;Cell membrane;Secreted Autoimmune lymphoproliferative syndrome 1A 1 PE1 NX_P25490 44713 414 5.8 14 Nucleoplasm;Nucleus matrix;Cytoplasmic vesicle;Nucleolus;Nucleus Gabriele-de Vries syndrome 0 PE1 NX_P25685 38044 340 8.74 19 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P25686 35580 324 5.69 2 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Nucleus membrane Distal spinal muscular atrophy, autosomal recessive, 5 0 PE1 NX_P25705 59751 553 9.16 18 Mitochondrion;Mitochondrion inner membrane;Cell membrane Combined oxidative phosphorylation deficiency 22;Mitochondrial complex V deficiency, nuclear type 4 0 PE1 NX_P25713 6927 68 4.79 16 NA NA 0 PE1 NX_P25774 37496 331 8.61 1 Cytoplasmic vesicle;Lysosome NA 0 PE1 NX_P25786 29556 263 6.15 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P25787 25899 234 6.91 7 Cytoplasm;Nucleus NA 0 PE1 NX_P25788 28433 255 5.19 14 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_P25789 29484 261 7.58 15 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P25791 18358 158 6.79 11 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_P25800 17828 156 8.33 11 Nucleus NA 0 PE1 NX_P25815 10400 95 4.75 4 Cytoplasm;Microvillus membrane;Nucleus NA 0 PE1 NX_P25874 33005 307 9.26 4 Mitochondrion inner membrane NA 6 PE1 NX_P25929 44392 384 7.94 4 Mitochondrion;Cytosol;Nucleus;Cell membrane NA 7 PE1 NX_P25940 172121 1745 6.44 19 Extracellular matrix NA 0 PE1 NX_P25942 30619 277 5.49 20 Cell membrane;Secreted Immunodeficiency with hyper-IgM 3 1 PE1 NX_P25963 35609 317 4.57 14 Cytosol;Cytoplasm;Nucleus Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant 0 PE1 NX_P26006 116612 1051 6.32 17 Filopodium membrane;Invadopodium membrane;Cell membrane Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 1 PE1 NX_P26010 86903 798 5.67 12 Cytosol;Cell membrane;Membrane NA 1 PE1 NX_P26012 85632 769 7.06 7 Cytosol;Cell membrane NA 1 PE1 NX_P26022 41976 381 4.94 3 Secreted NA 0 PE1 NX_P26038 67820 577 6.08 X Microvillus;Microvillus membrane;Apical cell membrane;Cytoskeleton;Cell membrane Immunodeficiency 50 0 PE1 NX_P26045 103990 913 6.58 9 Cytoskeleton;Cell membrane NA 0 PE1 NX_P26196 54417 483 8.85 11 Cytosol;Cytoplasm;P-body;Nucleus NA 0 PE1 NX_P26232 105313 953 5.52 2 Cytoplasm;Cell membrane;Axon;Nucleus;Adherens junction;Cytoskeleton NA 0 PE1 NX_P26358 183165 1616 7.99 19 Nucleoplasm;Nucleus Neuropathy, hereditary sensory, 1E;Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 0 PE1 NX_P26367 46683 422 9.45 11 Nucleoplasm;Nucleus Coloboma, ocular, autosomal dominant;Aniridia 2;Aniridia 1;Anterior segment dysgenesis 5;Bilateral optic nerve hypoplasia;Foveal hypoplasia 1;Coloboma of optic nerve;Keratitis hereditary 0 PE1 NX_P26368 53501 475 9.19 19 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_P26371 16276 169 8.34 11 NA NA 0 PE1 NX_P26373 24261 211 11.65 16 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum NA 0 PE1 NX_P26374 74071 656 4.84 1 Cytosol;Nucleoplasm NA 0 PE1 NX_P26378 41770 380 9.45 1 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 NX_P26436 28156 265 4.68 11 Acrosome NA 0 PE1 NX_P26439 42052 372 8.12 1 Endoplasmic reticulum membrane;Mitochondrion membrane Adrenal hyperplasia 2 1 PE1 NX_P26440 46651 426 8.27 15 Mitochondrion matrix;Nucleoplasm;Mitochondrion Isovaleric acidemia 0 PE1 NX_P26441 22931 200 6.35 11 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_P26447 11729 101 5.85 1 Cell membrane NA 0 PE1 NX_P26572 50878 445 9.25 5 Golgi apparatus membrane NA 1 PE1 NX_P26583 24034 209 7.62 4 Cytoplasm;Nucleolus;Nucleus;Chromosome;Secreted NA 0 PE1 NX_P26599 57221 531 9.22 19 Nucleoplasm;Nucleus NA 0 PE1 NX_P26639 83435 723 6.23 5 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 NX_P26640 140476 1264 7.53 6 Cytosol Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 PE1 NX_P26641 50119 437 6.25 11 Mitochondrion;Cytoplasm NA 0 PE1 NX_P26651 34003 326 8.86 19 P-body;Cytoplasm;Cytoplasmic vesicle;Cytoplasmic granule;Nucleus;Cytoskeleton NA 0 PE1 NX_P26678 6109 52 9.5 6 Endoplasmic reticulum membrane;Sarcoplasmic reticulum membrane;Mitochondrion membrane;Membrane Cardiomyopathy, familial hypertrophic 18;Cardiomyopathy, dilated 1P 1 PE1 NX_P26715 26314 233 8.53 12 Membrane NA 1 PE1 NX_P26717 26072 231 8.69 12 Membrane NA 1 PE1 NX_P26718 25274 216 8.56 12 Cell membrane NA 1 PE1 NX_P26842 29137 260 7.8 12 Membrane Lymphoproliferative syndrome 2 1 PE1 NX_P26885 15649 142 9.24 11 Endoplasmic reticulum membrane;Cell membrane NA 0 PE1 NX_P26927 80320 711 7.98 3 Secreted NA 0 PE1 NX_P26951 43330 378 8.6 X Cell membrane;Membrane NA 1 PE1 NX_P26992 40633 372 6.26 9 Cell membrane NA 0 PE1 NX_P26998 24252 211 6.25 22 NA Cataract 22, multiple types 0 PE1 NX_P27037 57848 513 5.61 2 Cytosol;Membrane NA 1 PE1 NX_P27105 31731 288 7.71 9 Melanosome;Golgi apparatus;Cytosol;Cell membrane;Cytoplasmic vesicle;Cytoskeleton;Membrane raft NA 0 PE1 NX_P27144 25268 223 8.47 1 Mitochondrion;Mitochondrion matrix NA 0 PE1 NX_P27169 39731 355 5.08 7 Extracellular space Microvascular complications of diabetes 5 0 PE1 NX_P27216 35415 316 5.47 8 Cell membrane NA 0 PE1 NX_P27338 58763 520 7.2 X Mitochondrion;Nucleolus;Mitochondrion outer membrane NA 1 PE1 NX_P27348 27764 245 4.68 2 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 NX_P27352 45416 417 5.8 11 Secreted Hereditary intrinsic factor deficiency 0 PE1 NX_P27361 43136 379 6.28 16 Caveola;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_P27448 84429 753 9.59 14 Cytoplasm;Nucleus membrane;Cell membrane;Dendrite NA 0 PE1 NX_P27449 15736 155 7.98 16 Vacuole membrane NA 4 PE1 NX_P27469 11321 103 9.73 1 Mitochondrion NA 0 PE1 NX_P27482 16891 149 4.3 10 NA NA 0 PE1 NX_P27487 88279 766 5.67 2 Invadopodium membrane;Apical cell membrane;Secreted;Cell membrane;Membrane raft;Lamellipodium membrane;Cell junction NA 1 PE1 NX_P27539 39475 372 9.51 19 Secreted Congenital heart defects, multiple types, 6;Right atrial isomerism;Tetralogy of Fallot;Conotruncal heart malformations 0 PE1 NX_P27540 86636 789 6.11 1 Nucleus NA 0 PE1 NX_P27544 39536 350 9.17 19 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum Epilepsy, progressive myoclonic 8 6 PE1 NX_P27635 24604 214 10.11 X Nucleus Autism, X-linked 5;Mental retardation, X-linked, syndromic, 35 0 PE1 NX_P27658 73364 744 9.62 3 Cytoplasmic vesicle;Basement membrane NA 0 PE1 NX_P27694 68138 616 6.92 17 Nucleoplasm;PML body;Nucleus NA 0 PE1 NX_P27695 35555 318 8.33 14 Nucleus speckle;Nucleolus;Cytoplasm;Endoplasmic reticulum;Nucleus;Mitochondrion NA 0 PE1 NX_P27701 29626 267 5.14 11 Cytoplasmic vesicle;Membrane NA 4 PE1 NX_P27707 30519 260 5.14 4 Nucleus NA 0 PE1 NX_P27708 242984 2225 6.02 2 Nucleoplasm;Cytoplasm;Nucleus Epileptic encephalopathy, early infantile, 50 0 PE1 NX_P27797 48142 417 4.29 19 Cytosol;Cell surface;Sarcoplasmic reticulum lumen;Endoplasmic reticulum lumen;Extracellular matrix NA 0 PE1 NX_P27815 98143 886 5.09 19 Cytoplasm;Perinuclear region;Cell membrane;Ruffle membrane;Membrane NA 0 PE1 NX_P27816 121005 1152 5.32 3 Cytosol;Cytoskeleton;Cell membrane NA 0 PE1 NX_P27824 67568 592 4.47 5 Endoplasmic reticulum membrane;Melanosome;Endoplasmic reticulum NA 1 PE1 NX_P27918 51276 469 8.32 X Secreted Properdin deficiency 0 PE1 NX_P27930 45421 398 8.03 2 Cell membrane;Secreted NA 1 PE1 NX_P27986 83598 724 5.84 5 Cytosol SHORT syndrome;Immunodeficiency 36;Agammaglobulinemia 7, autosomal recessive 0 PE1 NX_P27987 102376 946 8.7 1 Nucleus NA 0 PE1 NX_P28039 65105 575 8.45 7 Cytoplasmic vesicle;Cytoplasm;Secreted;Nucleus;Lysosome NA 0 PE1 NX_P28062 30354 276 7.04 6 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Nucleus Proteasome-associated autoinflammatory syndrome 1 0 PE1 NX_P28065 23264 219 4.93 6 Cytosol;Cytoplasm;Nucleus Proteasome-associated autoinflammatory syndrome 3 0 PE1 NX_P28066 26411 241 4.74 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P28067 29194 261 4.51 6 Cytoplasmic vesicle;Late endosome membrane;Lysosome membrane NA 1 PE1 NX_P28068 28943 263 7.09 6 Late endosome membrane;Lysosome membrane NA 1 PE1 NX_P28069 32912 291 8.36 3 Nucleus Pituitary hormone deficiency, combined, 1 0 PE1 NX_P28070 29204 264 5.72 1 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Centrosome Proteasome-associated autoinflammatory syndrome 3 0 PE1 NX_P28072 25358 239 4.8 17 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_P28074 28480 263 6.44 14 Cytoplasm;Nucleus;Centrosome NA 0 PE1 NX_P28161 25745 218 5.99 1 Cytoplasm NA 0 PE1 NX_P28221 41907 377 9.03 1 Cell membrane NA 7 PE1 NX_P28222 43568 390 8.96 6 Cell membrane NA 7 PE1 NX_P28223 52603 471 7.83 13 Cytoplasmic vesicle;Axon;Caveola;Cell membrane;Dendrite NA 7 PE1 NX_P28288 75476 659 9.41 1 Peroxisome membrane;Peroxisome Congenital bile acid synthesis defect 5 4 PE1 NX_P28289 40569 359 5.03 9 Cytosol;Cytoskeleton NA 0 PE1 NX_P28290 138386 1259 5.11 2 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_P28300 46944 417 8.36 5 Extracellular space;Endoplasmic reticulum;Secreted Aortic aneurysm, familial thoracic 10 0 PE1 NX_P28324 46900 431 7.68 1 Nucleoplasm;Nucleus NA 0 PE1 NX_P28325 16080 142 6.71 20 Secreted NA 0 PE1 NX_P28328 34843 305 8.98 8 Cytoplasmic vesicle;Peroxisome membrane Peroxisome biogenesis disorder complementation group 5;Peroxisome biogenesis disorder 5A;Peroxisome biogenesis disorder 5B 2 PE1 NX_P28329 82536 748 8.9 10 NA Myasthenic syndrome, congenital, 6, presynaptic 0 PE1 NX_P28330 47656 430 7.68 2 Mitochondrion matrix NA 0 PE1 NX_P28331 79468 727 5.89 2 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency 0 PE1 NX_P28332 39073 368 8.07 4 Cytoplasm NA 0 PE1 NX_P28335 51821 458 9.13 X Cell membrane NA 7 PE1 NX_P28336 43435 390 8.93 6 Cytosol;Cell membrane NA 7 PE1 NX_P28340 123631 1107 6.64 19 Nucleoplasm;Nucleus Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome;Colorectal cancer 10 0 PE1 NX_P28347 47946 426 8.33 11 Nucleoplasm;Nucleus Sveinsson chorioretinal atrophy 0 PE1 NX_P28356 36495 352 9.36 2 Nucleolus;Nucleus NA 0 PE1 NX_P28358 38411 340 8.62 2 Cytosol;Nucleoplasm;Nucleus Vertical talus, congenital 0 PE1 NX_P28360 31496 303 9.89 4 Nucleoplasm;Nucleus Ectodermal dysplasia 3, Witkop type;Non-syndromic orofacial cleft 5;Tooth agenesis, selective, 1 0 PE1 NX_P28370 122605 1054 8.27 X Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_P28472 54116 473 9.21 15 Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, early infantile, 43;Epilepsy, childhood absence 5 4 PE1 NX_P28476 54151 465 9.27 6 Postsynaptic cell membrane;Cell membrane NA 4 PE2 NX_P28482 41390 360 6.5 22 Caveola;Cytoplasm;Spindle;Nucleus;Centrosome NA 0 PE1 NX_P28562 39298 367 6.78 5 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_P28566 41682 365 9.09 6 Cell membrane NA 7 PE1 NX_P28676 24010 217 5.02 2 Cytosol;Cytoplasm;Cytoplasmic granule membrane;Cell membrane NA 0 PE1 NX_P28698 82055 734 8.59 19 Nucleus NA 0 PE1 NX_P28702 56922 533 8.52 6 Nucleus NA 0 PE1 NX_P28715 133108 1186 5.13 13 Nucleoplasm;Nucleus Cerebro-oculo-facio-skeletal syndrome 3;Xeroderma pigmentosum complementation group G 0 PE1 NX_P28749 120847 1068 7.32 20 Nucleoplasm;Nucleus NA 0 PE1 NX_P28799 63544 593 6.43 17 Endosome;Secreted;Endoplasmic reticulum;Lysosome Ubiquitin-positive frontotemporal dementia;Ceroid lipofuscinosis, neuronal, 11 0 PE1 NX_P28827 163682 1452 6.21 18 Cell membrane;Membrane NA 1 PE1 NX_P28838 56166 519 8.03 4 Cytosol;Cytoplasm;Midbody;Nucleoplasm NA 0 PE1 NX_P28845 32401 292 8.71 1 Endoplasmic reticulum membrane Cortisone reductase deficiency 2 1 PE1 NX_P28906 40716 385 7 1 Nucleus;Cell junction;Cell membrane;Membrane NA 1 PE1 NX_P28907 34328 300 7.85 4 Cell membrane;Membrane NA 1 PE1 NX_P28908 63747 595 5.44 1 Cytoplasm;Cell membrane NA 1 PE1 NX_P29016 36939 333 5.89 1 Endosome membrane;Lysosome membrane;Cell membrane NA 1 PE1 NX_P29017 37654 333 5.7 1 Endosome membrane;Cell membrane;Lysosome NA 1 PE1 NX_P29033 26215 226 9.11 13 Mitochondrion;Gap junction;Cell membrane Keratoderma, palmoplantar, with deafness;Keratitis-ichthyosis-deafness syndrome;Vohwinkel syndrome;Deafness, autosomal recessive, 1A;Deafness, autosomal dominant, 3A;Bart-Pumphrey syndrome;Ichthyosis hystrix-like with deafness syndrome 4 PE1 NX_P29034 11117 98 4.68 1 Cytosol;Cytoplasm;Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_P29074 105911 926 7.15 2 Cytosol;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 NX_P29083 49452 439 4.74 3 Cytosol;Nucleus NA 0 PE1 NX_P29084 33044 291 9.66 8 Nucleoplasm;Cytosol;Nucleus Trichothiodystrophy 6, non-photosensitive 0 PE1 NX_P29120 84152 753 5.66 5 Secretory vesicle Proprotein convertase 1 deficiency 0 PE1 NX_P29122 106420 969 7.96 15 Endomembrane system;Endoplasmic reticulum;Secreted NA 0 PE1 NX_P29144 138350 1249 5.9 13 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P29218 30189 277 5.16 8 Nucleoplasm;Cytoplasm;Mitochondrion Mental retardation, autosomal recessive 59 0 PE1 NX_P29274 44707 412 8.34 22 Cell membrane NA 7 PE1 NX_P29275 36333 332 8.62 17 Cytosol;Cell membrane NA 7 PE1 NX_P29279 38091 349 8.43 6 Secreted;Extracellular matrix NA 0 PE1 NX_P29317 108266 976 5.86 1 Nucleus speckle;Golgi apparatus;Cell membrane;Focal adhesion;Lamellipodium membrane;Ruffle membrane;Cell junction Cataract 6, multiple types 1 PE1 NX_P29320 110131 983 6.33 3 Cytosol;Nucleoplasm;Cell membrane;Golgi apparatus;Secreted Colorectal cancer 1 PE1 NX_P29322 111003 1005 8.42 1 Early endosome membrane;Cell projection;Cell membrane NA 1 PE1 NX_P29323 117493 1055 6.14 1 Axon;Dendrite;Nucleus;Cell membrane Prostate cancer 1 PE1 NX_P29350 67561 595 7.65 12 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P29353 62822 583 6.01 1 Mitochondrion;Cytoplasm;Mitochondrion matrix;Cytosol NA 0 PE1 NX_P29371 52202 465 9.42 4 Cell membrane Hypogonadotropic hypogonadism 11 with or without anosmia 7 PE1 NX_P29372 32869 298 9.65 16 Cytosol;Nucleoplasm;Mitochondrion nucleoid;Nucleus;Cytoplasm NA 0 PE1 NX_P29373 15693 138 5.42 1 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Endoplasmic reticulum NA 0 PE1 NX_P29374 142752 1257 5.02 14 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_P29375 192095 1690 6.12 12 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_P29376 91681 864 6.07 15 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_P29377 9016 79 4.69 X NA NA 0 PE1 NX_P29400 161044 1685 7.71 X Lipid droplet;Basement membrane Alport syndrome, X-linked 0 PE1 NX_P29401 67878 623 7.58 3 Nucleoplasm Short stature, developmental delay, and congenital heart defects 0 PE1 NX_P29459 24874 219 6.21 3 Secreted NA 0 PE1 NX_P29460 37169 328 5.52 5 Secreted Psoriasis 11;Immunodeficiency 29 0 PE1 NX_P29466 45159 404 5.63 11 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_P29474 133275 1203 6.94 7 Caveola;Cytoskeleton;Golgi apparatus;Cell membrane NA 0 PE1 NX_P29475 160970 1434 7.1 12 Nucleoplasm;Dendritic spine;Cell membrane;Sarcolemma NA 0 PE1 NX_P29508 44565 390 6.35 18 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_P29536 67030 600 9.35 1 Sarcomere;Cytosol;Cytoskeleton NA 0 PE1 NX_P29558 44505 406 8.91 2 Cytosol;Nucleus NA 0 PE1 NX_P29590 97551 882 5.88 15 Endoplasmic reticulum membrane;PML body;Nucleolus;Nucleoplasm;Cytoplasm;Early endosome membrane;Nucleus NA 0 PE1 NX_P29597 133650 1187 6.71 19 Cytosol Immunodeficiency 35 0 PE1 NX_P29622 48542 427 7.34 14 Secreted NA 0 PE1 NX_P29692 31122 281 4.9 8 Nucleolus;Nucleus NA 0 PE1 NX_P29728 82431 719 8.55 12 Nucleoplasm;Cytoplasm;Perinuclear region;Cytosol NA 0 PE1 NX_P29762 15566 137 5.3 15 Cytoplasm NA 0 PE1 NX_P29803 42933 388 8.76 4 Mitochondrion matrix NA 0 PE1 NX_P29965 29274 261 8.53 X Cell surface;Cell membrane;Secreted Immunodeficiency with hyper-IgM, type 1 1 PE1 NX_P29966 31555 332 4.47 6 Cytosol;Endoplasmic reticulum;Nucleus;Cell membrane;Membrane;Cytoskeleton NA 0 PE1 NX_P29972 28526 269 6.95 7 Cell membrane NA 6 PE1 NX_P29973 79586 690 7.85 4 Membrane Retinitis pigmentosa 49 6 PE1 NX_P29992 42123 359 5.51 19 Cytoplasm;Cell membrane Hypocalcemia, autosomal dominant 2;Hypocalciuric hypercalcemia, familial 2 0 PE1 NX_P30038 61719 563 8.25 1 Mitochondrion matrix Hyperprolinemia 2 0 PE1 NX_P30039 31785 288 6.06 10 Cytoplasmic vesicle NA 0 PE1 NX_P30040 28993 261 6.77 12 Nucleoplasm;Cytoskeleton;Endoplasmic reticulum lumen;Melanosome;Endoplasmic reticulum NA 0 PE1 NX_P30041 25035 224 6 1 Cytosol;Cytoplasm;Cell membrane;Lysosome NA 0 PE1 NX_P30043 22119 206 7.13 19 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm NA 0 PE1 NX_P30044 22086 214 8.93 11 Mitochondrion;Cytoplasm;Cytosol;Peroxisome matrix NA 0 PE1 NX_P30046 12712 118 6.72 22 Mitochondrion;Cytoplasm NA 0 PE1 NX_P30047 9698 84 6.08 15 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Nucleus membrane NA 0 PE1 NX_P30048 27693 256 7.68 10 Mitochondrion;Cytoplasm;Early endosome NA 0 PE1 NX_P30049 17490 168 5.38 19 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_P30050 17819 165 9.48 9 Golgi apparatus NA 0 PE1 NX_P30084 31387 290 8.34 10 Mitochondrion;Mitochondrion matrix Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 0 PE1 NX_P30085 22222 196 5.44 1 Cytoplasm;Nucleus NA 0 PE1 NX_P30086 21057 187 7.01 12 Cytoplasm;Cell membrane NA 0 PE1 NX_P30101 56782 505 5.98 15 Endoplasmic reticulum lumen;Melanosome;Endoplasmic reticulum NA 0 PE1 NX_P30153 65309 589 5 19 Cytoplasm;Dendrite;Centromere;Cytosol;Lateral cell membrane Mental retardation, autosomal dominant 36 0 PE1 NX_P30154 66214 601 4.84 11 Cytosol;Nucleus;Centrosome;Cell membrane NA 0 PE1 NX_P30203 71801 668 4.82 11 Cell membrane;Secreted NA 1 PE1 NX_P30260 91867 824 6.59 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P30273 9667 86 6.54 1 Cell membrane NA 1 PE1 NX_P30279 33067 289 5.06 12 Nucleoplasm;Cytoplasm;Nucleus;Membrane Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 0 PE1 NX_P30281 32520 292 6.66 6 Cytoplasm;Nucleus;Membrane NA 0 PE1 NX_P30291 71597 646 6.33 11 Nucleolus;Nucleus NA 0 PE1 NX_P30301 28122 263 8.62 12 Gap junction;Cell membrane Cataract 15, multiple types 6 PE1 NX_P30304 59087 524 6.49 3 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 NX_P30305 64987 580 6 20 Cytoplasmic vesicle;Spindle;Centrosome;Spindle pole NA 0 PE1 NX_P30307 53365 473 6.34 5 Nucleus speckle;Nucleus NA 0 PE1 NX_P30405 22040 207 9.49 10 Mitochondrion matrix;Mitochondrion NA 0 PE1 NX_P30408 21632 202 4.88 3 Cell membrane;Membrane NA 4 PE1 NX_P30411 44461 391 8.5 14 Cell membrane NA 7 PE1 NX_P30414 165677 1462 10.01 3 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 NX_P30419 56806 496 7.65 17 Cytosol;Cytoplasm;Cell membrane;Membrane NA 0 PE1 NX_P30443 40846 365 6.09 6 Membrane NA 1 PE1 NX_P30447 40733 365 5.91 6 Membrane NA 1 PE1 NX_P30450 41062 365 6.08 6 Membrane NA 1 PE1 NX_P30453 41055 365 5.89 6 Membrane NA 1 PE1 NX_P30455 40934 365 5.96 6 Membrane NA 1 PE1 NX_P30456 41033 365 5.96 6 Membrane NA 1 PE1 NX_P30457 41082 365 5.89 6 Membrane NA 1 PE1 NX_P30459 40891 365 6.02 6 Membrane NA 1 PE1 NX_P30460 40331 362 5.46 6 Membrane NA 1 PE1 NX_P30461 40474 362 5.77 6 Membrane NA 1 PE1 NX_P30462 40358 362 5.56 6 Membrane NA 1 PE1 NX_P30464 40388 362 5.9 6 Membrane Stevens-Johnson syndrome 1 PE1 NX_P30466 40275 362 6.27 6 Membrane NA 1 PE1 NX_P30475 40328 362 5.77 6 Membrane NA 1 PE1 NX_P30479 40539 362 6.09 6 Membrane NA 1 PE1 NX_P30480 40333 362 5.56 6 Membrane NA 1 PE1 NX_P30481 40481 362 5.7 6 Membrane NA 1 PE1 NX_P30483 40414 362 6.03 6 Membrane NA 1 PE1 NX_P30484 40440 362 6.17 6 Membrane NA 1 PE1 NX_P30485 40571 362 5.78 6 Membrane NA 1 PE1 NX_P30486 40362 362 5.67 6 Membrane NA 1 PE1 NX_P30487 40581 362 6.03 6 Membrane NA 1 PE1 NX_P30488 40541 362 6.03 6 Membrane NA 1 PE1 NX_P30490 40521 362 5.85 6 Membrane NA 1 PE1 NX_P30491 40495 362 6.02 6 Membrane NA 1 PE1 NX_P30492 40380 362 5.89 6 Membrane NA 1 PE1 NX_P30493 40496 362 5.66 6 Membrane NA 1 PE1 NX_P30495 40478 362 5.77 6 Membrane NA 1 PE1 NX_P30498 40478 362 5.84 6 Membrane NA 1 PE1 NX_P30499 40965 366 5.49 6 Membrane NA 1 PE1 NX_P30501 41095 366 5.76 6 Membrane NA 1 PE1 NX_P30504 40995 366 6.04 6 Membrane NA 1 PE1 NX_P30505 40773 366 6.52 6 Membrane NA 1 PE1 NX_P30508 40886 366 5.91 6 Membrane NA 1 PE1 NX_P30510 40838 366 5.79 6 Membrane NA 1 PE1 NX_P30511 39062 346 5.37 6 Membrane NA 1 PE1 NX_P30512 40863 365 6.52 6 Membrane NA 1 PE1 NX_P30518 40279 371 9.49 X Cell membrane Nephrogenic syndrome of inappropriate antidiuresis;Diabetes insipidus, nephrogenic, X-linked 7 PE1 NX_P30519 36033 316 5.31 16 Cytoplasmic vesicle;Cytosol;Microsome;Endoplasmic reticulum NA 0 PE1 NX_P30520 50097 456 6.13 1 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_P30530 98337 894 5.23 19 Cell membrane NA 1 PE1 NX_P30531 67074 599 8.39 3 Mitochondrion;Cell membrane;Membrane Myoclonic-atonic epilepsy 12 PE1 NX_P30532 53054 468 6.52 15 Focal adhesion;Postsynaptic cell membrane;Cell membrane NA 4 PE1 NX_P30533 41466 357 8.73 4 Endosome lumen;cis-Golgi network;Endoplasmic reticulum;Golgi apparatus lumen;Cell surface;Rough endoplasmic reticulum lumen;Endoplasmic reticulum-Golgi intermediate compartment lumen Myopia 23, autosomal recessive 0 PE1 NX_P30536 18828 169 9.43 22 Cytoplasmic vesicle;Cytosol;Mitochondrion;Mitochondrion membrane NA 5 PE1 NX_P30542 36512 326 8.9 1 Cell membrane NA 7 PE1 NX_P30550 43199 384 8.78 X Cell membrane NA 7 PE1 NX_P30556 41061 359 9.44 3 Cytoplasmic vesicle;Cell membrane Renal tubular dysgenesis 7 PE1 NX_P30559 42772 389 9.63 3 Cell membrane NA 7 PE1 NX_P30566 54889 484 6.68 22 Cytosol Adenylosuccinase deficiency 0 PE1 NX_P30613 61830 574 7.65 1 Golgi apparatus;Endoplasmic reticulum Pyruvate kinase hyperactivity;Pyruvate kinase deficiency of red cells 0 PE1 NX_P30622 162246 1438 5.29 12 Cytosol;Cytoplasm;Cytoskeleton;Ruffle;Cytoplasmic vesicle membrane NA 0 PE1 NX_P30626 21676 198 5.32 7 Nucleoplasm;Cytoplasm;Cytosol;Sarcoplasmic reticulum membrane NA 0 PE1 NX_P30679 43568 374 8.74 19 NA NA 0 PE1 NX_P30685 40455 362 6.02 6 Membrane NA 1 PE1 NX_P30711 27335 240 7.01 22 Cytoplasm NA 0 PE1 NX_P30740 42742 379 5.9 6 Cytosol;Cytoplasm;Cytoplasmic granule NA 0 PE1 NX_P30793 27903 250 8.73 14 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Nucleus membrane Dystonia, dopa-responsive;Hyperphenylalaninemia, BH4-deficient, B 0 PE1 NX_P30825 67638 629 5.29 13 Cell membrane NA 14 PE1 NX_P30837 57206 517 6.36 9 Nucleoplasm;Cytoplasmic vesicle;Mitochondrion;Mitochondrion matrix NA 0 PE1 NX_P30838 50395 453 6.11 17 Cytosol;Cytoplasm;Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_P30872 42686 391 8.68 14 Cell membrane NA 7 PE1 NX_P30874 41333 369 9.15 17 Cytosol;Cytoplasm;Cell membrane NA 7 PE1 NX_P30876 133897 1174 6.44 4 Nucleoplasm;Nucleus NA 0 PE1 NX_P30926 56380 498 8.64 15 Postsynaptic cell membrane;Cell membrane NA 4 PE1 NX_P30939 41709 366 9.09 3 Cell membrane NA 7 PE2 NX_P30953 35264 314 7.98 17 Cell membrane NA 7 PE3 NX_P30954 35925 320 9.29 1 Cell membrane NA 7 PE2 NX_P30968 37731 328 9.56 4 Cell membrane Hypogonadotropic hypogonadism 7 with or without anosmia 7 PE1 NX_P30988 59352 508 8.98 7 Cell membrane NA 7 PE1 NX_P30989 46259 418 9.46 20 Membrane raft;Cell membrane NA 7 PE1 NX_P30990 19795 170 6.59 12 Secretory vesicle;Secreted NA 0 PE1 NX_P31025 19250 176 5.39 9 Secreted NA 0 PE1 NX_P31040 72692 664 7.06 5 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex II deficiency;Cardiomyopathy, dilated 1GG;Leigh syndrome;Paragangliomas 5 0 PE1 NX_P31146 51026 461 6.25 16 Cytosol;Phagosome membrane;Cytoskeleton;Cell cortex Immunodeficiency 8 0 PE1 NX_P31150 50583 447 5 X Cytoplasmic vesicle;Cytoplasm;trans-Golgi network Mental retardation, X-linked 41 0 PE1 NX_P31151 11471 101 6.27 1 Cytoplasm;Secreted NA 0 PE1 NX_P31152 65922 587 5.25 18 Cytoplasm;Nucleus NA 0 PE1 NX_P31153 43661 395 6.02 2 Cytosol;Nucleoplasm NA 0 PE1 NX_P31213 28393 254 9.47 2 Endoplasmic reticulum membrane;Microsome membrane Pseudovaginal perineoscrotal hypospadias 4 PE1 NX_P31249 45730 432 8.98 2 Nucleoplasm;Nucleus NA 0 PE1 NX_P31260 42414 410 8.63 7 Nucleoplasm;Nucleus NA 0 PE1 NX_P31267 26339 233 9.18 7 Nucleus NA 0 PE2 NX_P31268 25355 230 5.26 7 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_P31269 30172 272 8.8 7 Nucleus NA 0 PE1 NX_P31270 34486 313 8.91 7 Nucleoplasm;Nucleus Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 0 PE1 NX_P31271 39727 388 9.24 7 Nucleus Hand-foot-genital syndrome;Guttmacher syndrome 0 PE1 NX_P31273 27755 242 6.56 12 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_P31274 29248 260 9.14 12 Nucleoplasm;Nucleus NA 0 PE1 NX_P31275 30171 282 8.93 12 Nucleus NA 0 PE1 NX_P31276 35379 330 9.11 12 Nucleus Ectodermal dysplasia 9, hair/nail type 0 PE1 NX_P31277 35197 338 9.02 2 Nucleoplasm;Nucleus NA 0 PE1 NX_P31314 34365 330 9.53 10 Nucleus NA 0 PE1 NX_P31321 43073 381 5.53 7 Cell membrane NA 0 PE1 NX_P31323 46302 418 4.82 7 Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Mitochondrion;Centrosome NA 0 PE1 NX_P31327 164939 1500 6.3 2 Mitochondrion;Nucleolus Pulmonary hypertension, neonatal;Carbamoyl phosphate synthetase 1 deficiency 0 PE1 NX_P31350 44878 389 5.28 2 Cytosol;Cytoplasm NA 0 PE1 NX_P31358 6614 61 8 1 Cell membrane NA 0 PE1 NX_P31371 23441 208 7.06 13 Secreted Multiple synostoses syndrome 3 0 PE1 NX_P31391 42003 388 9.09 20 Cell membrane NA 7 PE2 NX_P31415 45160 396 4.03 1 Sarcoplasmic reticulum membrane;Nucleoplasm;Sarcoplasmic reticulum lumen;Endoplasmic reticulum;Mitochondrion matrix;Sarcoplasmic reticulum;Mitochondrion Myopathy, vacuolar, with CASQ1 aggregates;Myopathy, tubular aggregate, 1 0 PE1 NX_P31431 21642 198 4.39 20 Membrane;Golgi apparatus;Cell membrane;Secreted NA 1 PE1 NX_P31483 42963 386 7.62 2 Nucleoplasm;Stress granule;Nucleus;Cytosol Welander distal myopathy 0 PE1 NX_P31512 63343 558 8.74 1 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_P31513 60033 532 7.9 1 Endoplasmic reticulum membrane;Microsome membrane Trimethylaminuria 1 PE1 NX_P31629 269053 2446 6.5 6 Nucleoplasm;Nucleus Mental retardation, autosomal dominant 43 0 PE1 NX_P31639 72897 672 7.45 16 Membrane Renal glucosuria 11 PE1 NX_P31641 69830 620 7.37 3 Cytosol;Cell junction;Cell membrane NA 12 PE1 NX_P31644 52146 462 9.22 15 Postsynaptic cell membrane;Cell membrane NA 4 PE1 NX_P31645 70325 630 5.89 17 Endosome membrane;Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Endomembrane system NA 12 PE1 NX_P31689 44868 397 6.65 9 Cytosol;Cytoplasm;Microsome;Cell membrane;Perinuclear region;Nucleus;Membrane;Mitochondrion;Cytoskeleton NA 0 PE1 NX_P31749 55686 480 5.75 14 Cytoplasm;Cytoskeleton;Nucleus;Cell membrane Proteus syndrome;Breast cancer;Cowden syndrome 6;Colorectal cancer 0 PE1 NX_P31751 55769 481 5.98 19 Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Early endosome Diabetes mellitus, non-insulin-dependent;Hypoinsulinemic hypoglycemia with hemihypertrophy 0 PE1 NX_P31785 42287 369 5.9 X Cytoplasmic vesicle;Membrane Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative;X-linked combined immunodeficiency 1 PE1 NX_P31930 52646 480 5.94 3 Mitochondrion;Cytosol;Mitochondrion inner membrane NA 0 PE1 NX_P31937 35329 336 8.38 7 Mitochondrion NA 0 PE1 NX_P31939 64616 592 6.27 2 Cytosol;Cell membrane AICAR transformylase/IMP cyclohydrolase deficiency 0 PE1 NX_P31941 23012 199 6.34 22 Cytoplasm;Nucleus NA 0 PE1 NX_P31942 36926 346 6.37 10 Nucleoplasm;Nucleus NA 0 PE1 NX_P31943 49229 449 5.89 5 Nucleoplasm NA 0 PE1 NX_P31944 27680 242 5.44 19 Mitochondrion;Cytoplasm;Nucleus;Cytosol Ichthyosis, congenital, autosomal recessive 12 0 PE1 NX_P31946 28082 246 4.76 20 Cytosol;Cytoplasm;Melanosome NA 0 PE1 NX_P31947 27774 248 4.68 1 Cytosol;Cytoplasm;Nucleus;Secreted NA 0 PE1 NX_P31948 62639 543 6.4 11 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Cell membrane NA 0 PE1 NX_P31949 11740 105 6.56 1 Cytoplasm;Nucleus NA 0 PE1 NX_P31994 34044 310 5.74 1 Cell membrane Systemic lupus erythematosus 1 PE1 NX_P31995 35578 323 6.4 1 Cytoplasm;Cell membrane NA 1 PE1 NX_P31997 38154 349 6.95 19 Cell surface;Cell membrane NA 0 PE1 NX_P32004 140003 1257 5.84 X Axon;Dendrite;Growth cone;Cell membrane;Nucleoplasm Agenesis of the corpus callosum, X-linked, partial;Hydrocephalus due to stenosis of the aqueduct of Sylvius;Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome 1 PE1 NX_P32019 112852 993 5.37 1 Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus;Cytosol;Early endosome membrane;Membrane;Phagosome membrane NA 0 PE1 NX_P32119 21892 198 5.66 19 Cytoplasm NA 0 PE1 NX_P32121 46106 409 7.59 17 Cytoplasmic vesicle;Nucleus;Clathrin-coated pit;Cell membrane;Cytoplasm NA 0 PE1 NX_P32189 61245 559 6.12 X Cytoplasm;Mitochondrion outer membrane Glycerol kinase deficiency 0 PE1 NX_P32238 47841 428 9.37 4 Cell membrane NA 7 PE1 NX_P32239 48419 447 10.03 11 Cell membrane NA 7 PE1 NX_P32241 51547 457 8.52 3 Cell membrane NA 7 PE1 NX_P32242 37327 354 9.41 2 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 NX_P32243 31636 289 9.4 14 Nucleus Retinal dystrophy, early-onset, with or without pituitary dysfunction;Pituitary hormone deficiency, combined, 6;Microphthalmia, syndromic, 5 0 PE1 NX_P32245 36943 332 7.88 18 Cell membrane Obesity 7 PE1 NX_P32246 41173 355 8.38 3 Cell membrane NA 7 PE1 NX_P32247 44411 399 8.99 X Cell membrane NA 7 PE1 NX_P32248 42874 378 8.82 17 Mitochondrion;Cell membrane NA 7 PE1 NX_P32249 41224 361 9.31 13 Cytoplasmic vesicle;Nucleus membrane;Cell membrane NA 7 PE1 NX_P32297 57480 505 6.05 15 Postsynaptic cell membrane;Cell membrane NA 4 PE1 NX_P32298 66583 578 7.93 4 Cytoplasmic vesicle;Cytoplasm;Cell cortex NA 0 PE1 NX_P32302 41955 372 8.52 11 Cell membrane NA 7 PE1 NX_P32314 47161 431 5.98 2 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P32320 16185 146 6.55 1 Nucleoplasm NA 0 PE1 NX_P32321 20016 178 7.5 4 Nucleoplasm;Cytosol NA 0 PE1 NX_P32322 33361 319 7.18 17 Mitochondrion Cutis laxa, autosomal recessive, 2B;Cutis laxa, autosomal recessive, 3B 0 PE1 NX_P32418 108547 973 4.91 2 Nucleoplasm;Cell membrane NA 10 PE1 NX_P32455 67931 592 5.97 1 Cytoplasm;Golgi apparatus membrane;Cell membrane;Secreted NA 0 PE1 NX_P32456 67209 591 5.54 1 Cytosol;Cytoplasm;Nucleoplasm;Perinuclear region;Golgi apparatus membrane;Membrane;Cytoskeleton NA 0 PE1 NX_P32519 67498 619 5.09 13 Nucleoplasm;Nucleus NA 0 PE1 NX_P32745 45847 418 8.91 22 Cell membrane NA 7 PE1 NX_P32754 44934 393 6.52 12 Nucleus speckle Hawkinsinuria;Tyrosinemia 3 0 PE1 NX_P32780 62032 548 8.8 11 Nucleoplasm;Nucleus NA 0 PE1 NX_P32856 33341 288 5.92 12 Cytosol;Nucleus;Membrane NA 1 PE1 NX_P32881 21989 189 5.32 9 Secreted NA 0 PE1 NX_P32926 107533 999 4.86 18 Desmosome;Cell membrane NA 1 PE1 NX_P32927 97336 897 5.33 22 Golgi apparatus;Membrane Pulmonary surfactant metabolism dysfunction 5 1 PE1 NX_P32929 44508 405 6.21 1 Cytoplasm Cystathioninuria 0 PE1 NX_P32942 59541 547 5.31 19 Mitochondrion;Nucleus;Nucleus membrane;Membrane NA 1 PE1 NX_P32969 21863 192 9.96 X Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum NA 0 PE1 NX_P32970 21118 193 8.93 19 Nucleoplasm;Membrane NA 1 PE1 NX_P32971 26017 234 7.62 9 Membrane NA 1 PE1 NX_P33032 36601 325 8.75 18 Cell membrane NA 7 PE1 NX_P33076 123514 1130 5.3 16 Nucleoplasm;PML body;Nucleus Bare lymphocyte syndrome 2 0 PE1 NX_P33121 77943 698 6.81 4 Endoplasmic reticulum membrane;Microsome membrane;Peroxisome membrane;Mitochondrion outer membrane;Nucleus;Mitochondrion NA 1 PE1 NX_P33151 87528 784 5.22 16 Cell junction;Cell membrane NA 1 PE1 NX_P33176 109685 963 6.12 10 Cytosol;Cytoskeleton;Microtubule organizing center NA 0 PE1 NX_P33240 60959 577 6.36 X Nucleoplasm;Nucleus NA 0 PE1 NX_P33241 37192 339 4.69 11 Cell membrane NA 0 PE1 NX_P33260 55711 490 6.83 10 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_P33261 55931 490 7.11 10 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_P33316 26563 252 9.46 15 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 NX_P33402 81750 732 7.77 11 Cytoplasm NA 0 PE1 NX_P33527 171591 1531 6.71 16 Cell membrane NA 17 PE1 NX_P33552 9860 79 8.07 9 Cytoplasm NA 0 PE1 NX_P33681 33048 288 7.58 3 Membrane NA 1 PE1 NX_P33763 10744 92 5.01 1 Nucleoplasm NA 0 PE1 NX_P33764 11713 101 4.71 1 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 NX_P33778 13950 126 10.31 6 Nucleus;Chromosome NA 0 PE1 NX_P33897 82937 745 9.09 X Endoplasmic reticulum membrane;Lysosome membrane;Peroxisome membrane;Mitochondrion membrane Adrenoleukodystrophy 5 PE1 NX_P33908 72969 653 6.04 6 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_P33947 24422 212 8.86 7 Endoplasmic reticulum membrane NA 7 PE1 NX_P33981 97072 857 8.41 6 Cytosol;Nucleolus NA 0 PE1 NX_P33991 96558 863 6.28 8 Nucleoplasm;Nucleus Immunodeficiency 54 0 PE1 NX_P33992 82286 734 8.64 22 Nucleoplasm;Cytosol;Nucleus Meier-Gorlin syndrome 8 0 PE1 NX_P33993 81308 719 6.08 7 Nucleoplasm;Nucleus NA 0 PE1 NX_P34059 58026 522 6.25 16 Cytosol;Lysosome Mucopolysaccharidosis 4A 0 PE1 NX_P34096 16840 147 9.3 14 Secreted NA 0 PE1 NX_P34130 22427 210 9.01 19 Golgi apparatus;Secreted Glaucoma 1, open angle, O 0 PE1 NX_P34741 22160 201 4.75 8 Cytosol;Cell membrane;Membrane NA 1 PE1 NX_P34810 37408 354 9.1 17 Cytoplasmic vesicle;Endosome membrane;Lysosome membrane;Cell membrane;Golgi apparatus NA 1 PE1 NX_P34820 44768 402 8.76 1 Secreted NA 0 PE1 NX_P34896 53083 483 7.61 17 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P34897 55993 504 8.76 12 Mitochondrion nucleoid;Cytoplasm;Nucleus;Mitochondrion;Mitochondrion inner membrane;Cytoskeleton NA 0 PE1 NX_P34903 55165 492 8.81 X Postsynaptic cell membrane;Cell membrane NA 4 PE1 NX_P34910 48666 448 4.67 17 Membrane NA 1 PE1 NX_P34913 62616 555 5.91 8 Cytosol;Cytoplasm;Peroxisome NA 0 PE1 NX_P34925 67815 607 6.92 3 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Membrane NA 1 PE1 NX_P34931 70375 641 5.76 6 NA NA 0 PE1 NX_P34932 94331 840 5.11 5 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 NX_P34947 67787 590 8.39 10 Cytoplasm;Nucleus;Cell membrane;Nucleus membrane;Nucleus speckle NA 0 PE1 NX_P34949 46656 423 5.62 15 Cytosol;Cytoplasm;Cell membrane Congenital disorder of glycosylation 1B 0 PE1 NX_P34969 53555 479 9.09 10 Cytosol;Nucleus speckle;Cell membrane NA 7 PE1 NX_P34972 39681 360 8.52 1 Dendrite;Perikaryon;Cell membrane NA 7 PE1 NX_P34981 45085 398 8.62 8 Cell membrane NA 7 PE1 NX_P34982 35240 312 9.07 17 Cell membrane NA 7 PE1 NX_P34995 41801 402 11.72 19 Cell membrane NA 7 PE2 NX_P34998 50719 444 9.47 17 Endosome;Cell membrane NA 7 PE1 NX_P35030 32529 304 7.46 9 Secreted NA 0 PE1 NX_P35052 61680 558 7.07 2 Cytosol;Extracellular space;Endosome;Cell membrane NA 0 PE1 NX_P35070 19746 178 8.53 4 Extracellular space;Cell membrane NA 1 PE1 NX_P35080 15046 140 6.55 3 Cytoskeleton NA 0 PE1 NX_P35125 158658 1406 7.87 17 Cytoplasm;Endosome;Cell membrane NA 0 PE1 NX_P35212 37414 333 7.5 1 Gap junction;Cell membrane NA 4 PE1 NX_P35218 34750 305 7.18 16 Mitochondrion Hyperammonemia due to carbonic anhydrase VA deficiency 0 PE1 NX_P35219 32973 290 4.78 8 NA Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 0 PE1 NX_P35221 100071 906 5.95 5 Adherens junction;Cytoskeleton;Cell junction;Cell membrane Macular dystrophy, patterned, 2 0 PE1 NX_P35222 85497 781 5.53 3 Synapse;Cytoplasm;Cell junction;Cell membrane;Centrosome;Nucleus;Adherens junction;Cytoskeleton;Spindle pole;Cilium basal body Colorectal cancer;Ovarian cancer;Mesothelioma, malignant;Vitreoretinopathy, exudative 7;Pilomatrixoma;Mental retardation, autosomal dominant 19;Medulloblastoma 0 PE1 NX_P35225 15816 146 8.69 5 Cytosol;Cell membrane;Secreted Allergic rhinitis 0 PE1 NX_P35226 36949 326 8.9 10 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P35227 37788 344 8.21 17 Nucleus NA 0 PE1 NX_P35228 131117 1153 8.2 17 Cytosol NA 0 PE1 NX_P35232 29804 272 5.57 17 Mitochondrion;Cytoplasmic vesicle;Mitochondrion inner membrane NA 0 PE1 NX_P35236 40529 360 6.33 1 Cytoplasm;Cytoskeleton NA 0 PE1 NX_P35237 42622 376 5.18 6 Cytoplasm;Centrosome Deafness, autosomal recessive, 91 0 PE1 NX_P35240 69690 595 6.11 22 Cytosol;Cell membrane;Cytoplasmic granule;Perinuclear region;Nucleus;Ruffle membrane;Filopodium membrane;Cytoskeleton Schwannomatosis 1;Neurofibromatosis 2;Mesothelioma, malignant 0 PE1 NX_P35241 68564 583 6.03 11 Microvillus;Cytoplasm;Cytoskeleton;Cell membrane;Cleavage furrow Deafness, autosomal recessive, 24 0 PE1 NX_P35243 23130 200 5.06 17 NA NA 0 PE1 NX_P35244 13569 121 4.96 7 Nucleus NA 0 PE1 NX_P35247 37728 375 6.25 10 Surface film;Extracellular matrix NA 0 PE1 NX_P35249 39682 363 8.26 3 Nucleoplasm;Nucleus NA 0 PE1 NX_P35250 39157 354 6.04 7 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_P35251 128255 1148 9.38 4 Nucleolus;Nucleus NA 0 PE1 NX_P35268 14787 128 9.21 1 Cytoplasm;Nucleolus NA 0 PE1 NX_P35269 58240 517 7.04 19 Nucleus;Cell junction NA 0 PE1 NX_P35270 28048 261 8.25 2 Cytosol;Cytoplasm;Nucleoplasm Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency 0 PE1 NX_P35318 20420 185 10.84 11 Secreted NA 0 PE1 NX_P35321 9877 89 8.85 1 Cytoplasm NA 0 PE1 NX_P35325 7975 72 8.81 1 Cytoplasm NA 0 PE2 NX_P35326 7965 72 8.81 1 Cytoplasm NA 0 PE1 NX_P35346 39202 364 9.58 16 Cell membrane NA 7 PE1 NX_P35348 51487 466 9.26 8 Caveola;Cytoplasm;Cell membrane;Nucleus membrane NA 7 PE1 NX_P35354 68996 604 7.02 1 Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum NA 0 PE1 NX_P35367 55784 487 9.33 3 Cytosol;Cell membrane NA 7 PE1 NX_P35368 56836 520 9.53 5 Caveola;Cytoplasm;Nucleus membrane;Cell membrane NA 7 PE1 NX_P35372 44779 400 8.62 6 Endosome;Perikaryon;Cytoplasm;Cell membrane;Axon;Dendrite NA 7 PE1 NX_P35398 58975 523 6.3 15 Nucleus Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 PE1 NX_P35408 53119 488 9.08 5 Cell membrane NA 7 PE1 NX_P35410 42411 378 8.71 6 Nucleoplasm;Cytosol;Cell membrane NA 7 PE2 NX_P35414 42660 380 7.46 11 Cell membrane NA 7 PE1 NX_P35442 129991 1172 4.62 6 Cytosol;Nucleus speckle;Cell membrane Intervertebral disc disease 0 PE1 NX_P35443 105869 961 4.44 5 Extracellular space;Secreted;Extracellular matrix;Endoplasmic reticulum;Cytoplasmic vesicle;Sarcoplasmic reticulum NA 0 PE1 NX_P35452 29031 270 9.82 2 Nucleus NA 0 PE1 NX_P35453 36101 343 9.5 2 Nucleus Syndactyly 5;Brachydactyly D;Brachydactyly-syndactyly-oligodactyly syndrome;Brachydactyly E1;Brachydactyly-syndactyly syndrome;Synpolydactyly 1;VACTERL association 0 PE1 NX_P35462 44225 400 9.2 3 Cell membrane Tremor, hereditary essential 1;Schizophrenia 7 PE1 NX_P35475 72670 653 9.25 4 Cytoplasmic vesicle;Lysosome Mucopolysaccharidosis 1S;Mucopolysaccharidosis 1H;Mucopolysaccharidosis 1H/S 0 PE1 NX_P35498 228972 2009 5.6 2 Nucleoplasm;Nucleus;Cell membrane Generalized epilepsy with febrile seizures plus 2;Epileptic encephalopathy, early infantile, 6;Intractable childhood epilepsy with generalized tonic-clonic seizures;Febrile seizures, familial, 3A;Migraine, familial hemiplegic, 3 24 PE1 NX_P35499 208061 1836 4.99 17 Nucleoplasm;Cell membrane;Microtubule organizing center Paramyotonia congenita of von Eulenburg;Myotonia SCN4A-related;Periodic paralysis hypokalemic 2;Periodic paralysis hyperkalemic;Myasthenic syndrome, congenital, 16;Periodic paralysis normokalemic 24 PE1 NX_P35503 60338 534 8.41 2 Endoplasmic reticulum membrane;Microsome NA 1 PE1 NX_P35504 60071 534 8.24 2 Endoplasmic reticulum membrane;Microsome NA 1 PE2 NX_P35520 60587 551 6.2 21 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus Cystathionine beta-synthase deficiency 0 PE1 NX_P35523 108626 988 5.68 7 Cell membrane Myotonia congenita, autosomal recessive;Myotonia congenita, autosomal dominant 10 PE1 NX_P35527 62064 623 5.14 17 NA Keratoderma, palmoplantar, epidermolytic 0 PE1 NX_P35542 14747 130 9.17 11 Secreted NA 0 PE1 NX_P35544 7760 74 4.31 11 NA NA 0 PE1 NX_P35548 28897 267 9.68 5 Nucleus speckle;Nucleus Parietal foramina 1;Craniosynostosis 2;Parietal foramina with cleidocranial dysplasia 0 PE1 NX_P35555 312237 2871 4.81 15 Cytosol;Extracellular matrix;Secreted Acromicric dysplasia;Marfan syndrome;Ectopia lentis 1, isolated, autosomal dominant;Geleophysic dysplasia 2;Marfan lipodystrophy syndrome;Overlap connective tissue disease;Stiff skin syndrome;Weill-Marchesani syndrome 2 0 PE1 NX_P35556 314775 2912 4.73 5 Cytosol;Nucleoplasm;Extracellular matrix Macular degeneration, early-onset;Arthrogryposis, distal, 9 0 PE1 NX_P35557 52191 465 5.1 7 Cytosol;Cytoplasm;Nucleus;Golgi apparatus Familial hyperinsulinemic hypoglycemia 3;Diabetes mellitus, permanent neonatal;Maturity-onset diabetes of the young 2;Diabetes mellitus, non-insulin-dependent 0 PE1 NX_P35558 69195 622 5.8 20 Cytoplasm Phosphoenolpyruvate carboxykinase deficiency, cytosolic 0 PE1 NX_P35568 131591 1242 8.83 2 Nucleoplasm;Cytosol;Cell membrane Diabetes mellitus, non-insulin-dependent 0 PE1 NX_P35573 174764 1532 6.31 1 Nucleoplasm;Cytoplasm;Cytosol Glycogen storage disease 3 0 PE1 NX_P35575 40484 357 8.72 17 Endoplasmic reticulum membrane Glycogen storage disease 1A 9 PE1 NX_P35579 226532 1960 5.5 22 Cytosol;Cytoskeleton;Cell cortex;Cell membrane Deafness, autosomal dominant, 17;Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 PE1 NX_P35580 228999 1976 5.44 17 Mitochondrion;Lamellipodium;Cytoskeleton;Cytosol NA 0 PE1 NX_P35590 125090 1138 6.63 1 Cell membrane NA 1 PE1 NX_P35606 102487 906 5.15 3 Cytosol;Cytoplasm;Golgi apparatus membrane;COPI-coated vesicle membrane;Golgi apparatus Microcephaly 19, primary, autosomal recessive 0 PE1 NX_P35609 103854 894 5.31 1 Z line Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction;Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction 0 PE1 NX_P35610 64735 550 9.08 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 5 PE1 NX_P35611 80955 737 5.6 4 Nucleoplasm;Cytoskeleton;Cell membrane NA 0 PE1 NX_P35612 80854 726 5.67 2 Cytosol;Nucleoplasm;Cytoskeleton;Cell membrane NA 0 PE1 NX_P35613 42200 385 5.39 19 Cytoplasmic vesicle;Melanosome;Cell membrane NA 1 PE1 NX_P35625 24145 211 9 22 Extracellular matrix Sorsby fundus dystrophy 0 PE1 NX_P35626 79710 688 7.55 22 Nucleus;Cell membrane NA 0 PE1 NX_P35637 53426 526 9.4 16 Nucleoplasm;Nucleus Angiomatoid fibrous histiocytoma;Tremor, hereditary essential 4;Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia 0 PE1 NX_P35638 19175 169 4.61 12 Nucleoplasm;Cytoplasm;Nucleus Myxoid liposarcoma 0 PE1 NX_P35658 213620 2090 7.15 9 Cytoplasmic vesicle;Focal adhesion;Nucleus;Nuclear pore complex NA 0 PE1 NX_P35659 42674 375 8.69 6 Nucleus NA 0 PE1 NX_P35663 74242 651 9.68 X Calyx NA 0 PE1 NX_P35670 157263 1465 6.25 13 Late endosome;trans-Golgi network membrane;Golgi apparatus;Cytoplasm;Golgi apparatus membrane;Mitochondrion Wilson disease 8 PE1 NX_P35680 61324 557 7.39 17 Nucleoplasm;Nucleus Prostate cancer, hereditary, 11;Diabetes mellitus, non-insulin-dependent;Renal cysts and diabetes syndrome 0 PE1 NX_P35711 84026 763 6.15 12 Nucleoplasm;Nucleus Lamb-Shaffer syndrome 0 PE1 NX_P35712 91921 828 7.65 11 Nucleoplasm;Nucleus NA 0 PE1 NX_P35713 40891 384 8.16 20 Nucleus Hypotrichosis-lymphedema-telangiectasia syndrome;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 0 PE1 NX_P35716 46679 441 4.91 2 Nucleus Mental retardation, autosomal dominant 27 0 PE1 NX_P35749 227339 1972 5.42 16 Cytosol;Melanosome;Cell membrane Aortic aneurysm, familial thoracic 4 0 PE1 NX_P35754 11776 106 8.33 5 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_P35789 70971 620 9.4 19 Nucleus NA 0 PE1 NX_P35790 52249 457 6.16 11 Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_P35813 42448 382 5.19 14 Cytosol;Nucleus;Cell membrane;Membrane NA 0 PE1 NX_P35858 66035 605 6.33 16 Nucleoplasm;Extracellular space Acid-labile subunit deficiency 0 PE1 NX_P35869 96147 848 5.94 7 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_P35900 48487 424 5.52 17 Cytosol;Cytoplasm NA 0 PE1 NX_P35908 65433 639 8.07 12 Cytosol;Cytoskeleton;Golgi apparatus Ichthyosis bullosa of Siemens 0 PE1 NX_P35913 98336 854 5.11 4 Cytosol;Membrane Retinitis pigmentosa 40;Night blindness, congenital stationary, autosomal dominant 2 0 PE1 NX_P35914 34360 325 8.81 1 Mitochondrion matrix;Peroxisome 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 0 PE1 NX_P35916 152757 1363 5.9 5 Nucleus speckle;Secreted;Cytoplasm;Cell membrane;Nucleus;Cell junction Lymphedema, hereditary, 1A;Hemangioma, capillary infantile 1 PE1 NX_P35968 151527 1356 5.6 4 Secreted;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Endoplasmic reticulum;Early endosome;Cell junction Hemangioma, capillary infantile 1 PE1 NX_P35998 48634 433 5.71 7 Cytosol;Cytoplasm NA 0 PE1 NX_P36021 59511 539 5.43 X Cell membrane Monocarboxylate transporter 8 deficiency 12 PE1 NX_P36222 42625 383 8.69 1 Extracellular space;Perinuclear region;Endoplasmic reticulum;Cytoplasm Schizophrenia;Asthma-related traits 7 0 PE1 NX_P36268 61771 569 7.22 22 Perinuclear region;Endoplasmic reticulum NA 0 PE1 NX_P36269 62261 586 7.24 22 Nucleolus;Membrane NA 1 PE1 NX_P36382 40380 358 8.81 1 Gap junction;Cell membrane Atrial standstill 1;Atrial fibrillation, familial, 11 4 PE1 NX_P36383 45470 396 6.9 17 Cytosol;Nucleolus;Gap junction;Cell junction;Cell membrane NA 4 PE1 NX_P36402 41642 384 6.32 5 Nucleoplasm;Nucleus NA 0 PE1 NX_P36404 20878 184 5.95 11 Nucleolus;Golgi apparatus;Cytosol;Cytoplasm;Focal adhesion;Nucleus;Mitochondrion intermembrane space;Centrosome NA 0 PE1 NX_P36405 20456 182 6.74 10 Cytoplasm;Cell membrane;Cilium;Nucleus;Golgi apparatus membrane;Spindle;Centrosome NA 0 PE1 NX_P36406 64067 574 5.93 5 Cytoplasm;Lysosome membrane;Golgi apparatus membrane;Endomembrane system NA 0 PE1 NX_P36507 44424 400 6.12 19 Cytosol;Cytoplasm;Membrane Cardiofaciocutaneous syndrome 4 0 PE1 NX_P36508 61831 570 5.66 6 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_P36537 60774 528 9.12 4 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_P36542 32996 298 9.23 10 Cytoplasm;Mitochondrion inner membrane NA 0 PE1 NX_P36543 26145 226 7.7 22 Nucleoplasm Cutis laxa, autosomal recessive, 2C 0 PE1 NX_P36544 56449 502 6.02 15 Postsynaptic cell membrane;Cell membrane NA 4 PE1 NX_P36551 50152 454 8.59 3 Mitochondrion;Mitochondrion intermembrane space Hereditary coproporphyria 0 PE1 NX_P36575 42778 388 5.53 X NA Myopia 26, X-linked, female-limited 0 PE1 NX_P36578 47697 427 11.07 15 Cytosol;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_P36639 22520 197 5.15 7 Mitochondrion matrix;Cytosol;Nucleus NA 0 PE1 NX_P36776 106489 959 6.01 19 Mitochondrion;Mitochondrion matrix;Nucleus CODAS syndrome 0 PE1 NX_P36871 61449 562 6.3 1 Cytoplasm;Cytoskeleton Congenital disorder of glycosylation 1T 0 PE1 NX_P36873 36984 323 6.12 12 Kinetochore;Nucleus speckle;Nucleolus;Cleavage furrow;Nucleoplasm;Cytoplasm;Nucleus;Mitochondrion;Midbody NA 0 PE1 NX_P36888 112903 993 5.48 13 Endoplasmic reticulum lumen;Endoplasmic reticulum;Membrane Leukemia, acute myelogenous 1 PE1 NX_P36894 60198 532 7.71 10 Cytosol;Membrane Juvenile polyposis syndrome;Polyposis syndrome, mixed hereditary 2 1 PE1 NX_P36896 56807 505 6.6 12 Cytosol;Cell membrane NA 1 PE1 NX_P36897 55960 503 7.51 9 Cytoplasmic vesicle;Cell surface;Cell membrane;Tight junction;Membrane raft Loeys-Dietz syndrome 1;Multiple self-healing squamous epithelioma 1 PE1 NX_P36915 68661 607 5.57 6 Cytoplasmic vesicle NA 0 PE1 NX_P36941 46709 435 5.53 12 Golgi apparatus;Membrane NA 1 PE1 NX_P36952 42100 375 5.72 18 Cytoplasmic vesicle;Extracellular space NA 0 PE1 NX_P36954 14523 125 5.04 19 Nucleoplasm;Nucleolus NA 0 PE1 NX_P36955 46312 418 5.97 17 Melanosome;Secreted Osteogenesis imperfecta 6 0 PE1 NX_P36956 121675 1147 8.43 17 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Golgi apparatus;Cytosol;Golgi apparatus membrane;Nucleus NA 2 PE1 NX_P36957 48755 453 9.1 14 Mitochondrion matrix;Nucleus NA 0 PE1 NX_P36959 37419 345 6.6 6 NA NA 0 PE1 NX_P36969 22175 197 8.69 19 Nucleoplasm;Cytoplasm;Mitochondrion Spondylometaphyseal dysplasia, Sedaghatian type 0 PE1 NX_P36980 30651 270 6 1 Secreted NA 0 PE1 NX_P37023 56124 503 7.56 12 Cell membrane Telangiectasia, hereditary hemorrhagic, 2 1 PE1 NX_P37058 34516 310 8.9 9 Cytoplasmic vesicle;Endoplasmic reticulum Male pseudohermaphrodism with gynecomastia 0 PE1 NX_P37059 42785 387 8.79 16 Endoplasmic reticulum;Membrane NA 1 PE1 NX_P37088 75704 669 7.47 12 Apical cell membrane;Flagellum;Acrosome;Cytoplasm;Cytoplasmic granule;Cilium Pseudohypoaldosteronism 1, autosomal recessive;Bronchiectasis with or without elevated sweat chloride 2 2 PE1 NX_P37108 14570 136 10.05 15 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P37173 64568 567 5.6 3 Membrane raft;Cell membrane Loeys-Dietz syndrome 2;Hereditary non-polyposis colorectal cancer 6;Esophageal cancer 1 PE1 NX_P37198 53255 522 5.21 19 Nucleus membrane;Nuclear pore complex;Nucleus envelope;Centrosome;Nucleus;Spindle pole Infantile striatonigral degeneration 0 PE1 NX_P37231 57620 505 5.61 3 Cytoplasmic vesicle;Cytoplasm;Nucleus Lipodystrophy, familial partial, 3;Glioma 1;Obesity 0 PE1 NX_P37235 22313 193 5.21 2 Membrane NA 0 PE1 NX_P37268 48115 417 6.1 8 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 2 PE1 NX_P37275 124074 1124 4.87 10 Nucleoplasm;Nucleus Corneal dystrophy, Fuchs endothelial, 6;Corneal dystrophy, posterior polymorphous, 3 0 PE1 NX_P37287 54127 484 8.63 X Endoplasmic reticulum membrane Multiple congenital anomalies-hypotonia-seizures syndrome 2;Paroxysmal nocturnal hemoglobinuria 1 1 PE1 NX_P37288 46800 418 9.48 12 Cell membrane NA 7 PE1 NX_P37802 22391 199 8.41 1 Cytosol;Cytoskeleton NA 0 PE1 NX_P37837 37540 337 6.36 11 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Transaldolase deficiency 0 PE1 NX_P37840 14460 140 4.67 4 Cytosol;Synapse;Secreted;Nucleus;Membrane Parkinson disease 1, autosomal dominant;Parkinson disease 4, autosomal dominant;Dementia Lewy body 0 PE1 NX_P38117 27844 255 8.25 19 Mitochondrion matrix;Cytoplasm;Mitochondrion Glutaric aciduria 2B 0 PE1 NX_P38159 42332 391 10.06 X Nucleus Mental retardation, X-linked, syndromic, 11 0 PE1 NX_P38398 207721 1863 5.29 17 Cytoplasm;Nucleus;Chromosome Ovarian cancer;Breast-ovarian cancer, familial, 1;Fanconi anemia, complementation group S;Breast cancer;Pancreatic cancer 4 0 PE1 NX_P38405 44308 381 6.23 18 Cytosol;Nucleus Dystonia 25 0 PE1 NX_P38432 62608 576 9.2 17 Cajal body;Nucleolus;Nucleus NA 0 PE1 NX_P38435 87561 758 8.17 2 Endoplasmic reticulum membrane Combined deficiency of vitamin K-dependent clotting factors 1;Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency 5 PE1 NX_P38484 37806 337 5.27 21 Endoplasmic reticulum membrane;Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane;Golgi apparatus membrane;Cytoplasmic vesicle membrane Immunodeficiency 28 1 PE1 NX_P38567 57848 509 6.62 7 Cell membrane NA 0 PE1 NX_P38570 130159 1179 5.48 17 Membrane NA 1 PE1 NX_P38571 45419 399 6.42 10 Cytoplasmic vesicle;Lysosome Cholesteryl ester storage disease;Wolman disease 0 PE1 NX_P38606 68304 617 5.35 3 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol Epileptic encephalopathy, infantile or early childhood, 3;Cutis laxa, autosomal recessive, 2D 0 PE1 NX_P38646 73680 679 5.87 5 Mitochondrion;Nucleolus Anemia, sideroblastic, 4;Even-plus syndrome 0 PE1 NX_P38919 46871 411 6.3 17 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm Richieri-Costa-Pereira syndrome 0 PE1 NX_P38935 109149 993 9.13 11 Axon;Cytoplasm;Nucleus Neuronopathy, distal hereditary motor, 6;Charcot-Marie-Tooth disease 2S 0 PE1 NX_P38936 18119 164 8.69 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P39019 16060 145 10.31 19 Nucleoplasm;Nucleus Diamond-Blackfan anemia 1 0 PE1 NX_P39023 46109 403 10.19 22 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 NX_P39059 141720 1388 4.9 9 Endoplasmic reticulum;Extracellular matrix NA 0 PE1 NX_P39060 178188 1754 5.67 21 Extracellular matrix;Basement membrane;Golgi apparatus;Secreted Knobloch syndrome 1 0 PE1 NX_P39086 103981 918 6.65 21 Postsynaptic cell membrane;Cell membrane NA 3 PE1 NX_P39210 19733 176 9.54 2 Mitochondrion inner membrane Mitochondrial DNA depletion syndrome 6 4 PE1 NX_P39656 50801 456 6.09 1 Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1R 1 PE1 NX_P39687 28585 249 3.99 15 Cytoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_P39748 42593 380 8.8 11 Nucleoplasm;Mitochondrion;Nucleolus NA 0 PE1 NX_P39877 15674 138 8.79 1 Secreted Fleck retina, familial benign 0 PE1 NX_P39880 164187 1505 5.72 7 Nucleus NA 0 PE1 NX_P39900 54002 470 8.75 11 Extracellular matrix NA 0 PE1 NX_P39905 23720 211 9.26 5 Cytoplasmic vesicle;Nucleoplasm;Secreted Congenital central hypoventilation syndrome;Pheochromocytoma;Hirschsprung disease 3 0 PE1 NX_P40121 38499 348 5.82 2 Cytoplasm;Nucleus;Melanosome;Secreted NA 0 PE1 NX_P40123 52824 477 5.95 6 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 NX_P40126 59145 519 6.73 13 Melanosome;Melanosome membrane NA 1 PE1 NX_P40145 140122 1251 6.53 8 Synapse;Apical cell membrane;Basolateral cell membrane;Cell membrane;Axon;Dendrite;Coated pit;Clathrin-coated vesicle membrane;Presynaptic cell membrane;Caveola;Postsynaptic density;Membrane raft NA 12 PE1 NX_P40189 103537 918 5.62 5 Golgi apparatus;Cell membrane;Secreted NA 1 PE1 NX_P40197 60959 560 9.73 3 Membrane NA 1 PE1 NX_P40198 27091 252 6.15 19 Membrane NA 1 PE1 NX_P40199 37195 344 5.56 19 Cell surface;Apical cell membrane;Cell membrane NA 0 PE1 NX_P40200 65634 585 6.71 3 Membrane C syndrome 1 PE1 NX_P40205 11733 109 9.03 2 Cytoplasm;Nucleus NA 0 PE1 NX_P40222 61891 546 6.15 1 Cytosol;Cytoplasm;Centrosome;Nucleoplasm NA 0 PE1 NX_P40225 37823 353 9.54 3 Secreted Thrombocythemia 1 0 PE1 NX_P40227 58024 531 6.24 7 Cytoplasm NA 0 PE1 NX_P40238 71245 635 6.03 1 Cell surface;Cell membrane;Golgi apparatus Myelofibrosis with myeloid metaplasia;Thrombocythemia 2;Congenital amegakaryocytic thrombocytopenia 1 PE1 NX_P40259 26048 229 5.67 17 Nucleoplasm;Cytosol;Cell membrane Agammaglobulinemia 6, autosomal recessive 1 PE1 NX_P40261 29574 264 5.56 11 Cytosol;Nucleoplasm;Golgi apparatus;Cytoplasm NA 0 PE1 NX_P40305 11542 122 11.07 14 Endoplasmic reticulum membrane;Endosome;Nucleus inner membrane;Mitochondrion membrane NA 3 PE1 NX_P40306 28936 273 7.69 16 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P40313 28002 264 8.56 16 Nucleoplasm NA 0 PE1 NX_P40337 24153 213 4.7 3 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Membrane von Hippel-Lindau disease;Pheochromocytoma;Renal cell carcinoma;Erythrocytosis, familial, 2 0 PE1 NX_P40394 41481 386 8.12 4 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_P40424 46626 430 6.54 1 Nucleus Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0 PE1 NX_P40425 45881 430 7.18 6 Nucleoplasm;Nucleus NA 0 PE1 NX_P40426 47190 434 6.57 9 Cytoplasm;Nucleus NA 0 PE1 NX_P40429 23577 203 10.94 19 Cytoplasm NA 0 PE1 NX_P40616 20418 181 5.63 12 Golgi apparatus membrane;Golgi apparatus;Membrane NA 0 PE1 NX_P40617 22615 200 9.26 7 Nucleoplasm;Cytoplasm;Nucleolus;Cytosol;Cell membrane NA 0 PE1 NX_P40692 84601 756 5.51 3 Nucleoplasm;Nucleus;Chromosome Hereditary non-polyposis colorectal cancer 2;Endometrial cancer;Muir-Torre syndrome;Mismatch repair cancer syndrome;Colorectal cancer 0 PE1 NX_P40763 88068 770 5.94 17 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant;Autoimmune disease, multisystem, infantile-onset, 1 0 PE1 NX_P40818 127523 1118 8.7 15 Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Endosome membrane;Nucleus Pituitary adenoma 4, ACTH-secreting 0 PE1 NX_P40855 32807 299 4.26 1 Cytoplasm;Peroxisome membrane;Peroxisome Peroxisome biogenesis disorder 12A;Peroxisome biogenesis disorder complementation group 14 0 PE1 NX_P40879 84505 764 8.87 7 Apical cell membrane;Membrane Diarrhea 1, secretory chloride, congenital 10 PE1 NX_P40925 36426 334 6.91 2 Cytosol;Cytoplasm;Centrosome NA 0 PE1 NX_P40926 35503 338 8.92 7 Mitochondrion matrix;Mitochondrion Epileptic encephalopathy, early infantile, 51 0 PE1 NX_P40933 18086 162 5.13 4 Nucleoplasm;Nucleus speckle;Cytoplasm;Nucleus;Secreted NA 0 PE1 NX_P40937 38497 340 6.72 12 Nucleoplasm;Nucleus NA 0 PE1 NX_P40938 40556 356 8.66 13 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P40939 83000 763 9.16 2 Mitochondrion Maternal acute fatty liver of pregnancy;Long-chain 3-hydroxyl-CoA dehydrogenase deficiency;Mitochondrial trifunctional protein deficiency 0 PE1 NX_P40967 70255 661 5.37 12 Endoplasmic reticulum membrane;Melanosome;Multivesicular body;Golgi apparatus;Secreted NA 1 PE1 NX_P41002 87640 786 5.92 16 Centriole;Nucleus;Centrosome NA 0 PE1 NX_P41091 51109 472 8.66 X NA MEHMO syndrome 0 PE1 NX_P41134 16133 155 6.57 20 Nucleoplasm;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_P41143 40369 372 9.21 1 Cell membrane NA 7 PE1 NX_P41145 42645 380 7.92 8 Cytosol;Nucleus;Cell membrane NA 7 PE1 NX_P41146 40693 370 8.74 20 Cytoplasmic vesicle;Cell membrane NA 7 PE1 NX_P41159 18641 167 5.88 7 Secreted Leptin deficiency 0 PE1 NX_P41161 57838 510 5.43 3 Nucleoplasm;Nucleus NA 0 PE1 NX_P41162 57001 512 8.73 1 Nucleus NA 0 PE1 NX_P41180 120675 1078 5.62 3 Cell membrane Hyperparathyroidism, neonatal severe;Hypocalcemia, autosomal dominant 1;Epilepsy, idiopathic generalized 8;Hypocalciuric hypercalcemia, familial 1 7 PE1 NX_P41181 28837 271 6.44 12 trans-Golgi network membrane;Cytoplasmic vesicle membrane;Apical cell membrane;Basolateral cell membrane Diabetes insipidus, nephrogenic, autosomal 6 PE1 NX_P41182 78846 706 8.28 3 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_P41208 19738 172 4.91 X Centriole;Cytoplasm;Nucleus;Centrosome NA 0 PE1 NX_P41212 53000 452 6.95 12 Cytosol;Nucleolus;Nucleus Leukemia, acute myelogenous;Thrombocytopenia 5;Myeloproliferative disorder chronic with eosinophilia 0 PE1 NX_P41214 64706 584 7.56 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P41217 31264 278 8.78 3 Cell membrane NA 1 PE1 NX_P41218 45836 407 9.76 1 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P41219 53651 470 5.37 12 NA NA 0 PE1 NX_P41220 24382 211 9.05 1 Mitochondrion;Cytosol;Nucleolus;Cell membrane;Cytoplasm NA 0 PE1 NX_P41221 42339 380 8.83 3 Extracellular matrix;Secreted Robinow syndrome, autosomal dominant 1 0 PE1 NX_P41222 21029 190 7.66 9 Rough endoplasmic reticulum;Nucleus membrane;Golgi apparatus;Secreted;Nucleoplasm;Perinuclear region NA 0 PE1 NX_P41223 17000 144 9.1 7 Cytoskeleton;Nucleus;Centrosome NA 0 PE1 NX_P41225 45210 446 9.78 X Nucleoplasm;Nucleus 46,XX sex reversal 3;Mental retardation, X-linked, with isolated growth hormone deficiency;Panhypopituitarism X-linked 0 PE1 NX_P41226 111694 1012 5.64 3 Nucleoplasm;Cytosol;Cytoplasmic vesicle NA 0 PE1 NX_P41227 26459 235 5.41 X Cytosol;Cytoplasm;Nucleolus;Nucleus Microphthalmia, syndromic, 1;N-terminal acetyltransferase deficiency 0 PE1 NX_P41229 175720 1560 5.44 X Cytosol;Nucleoplasm;Nucleus Mental retardation, X-linked, syndromic, Claes-Jensen type 0 PE1 NX_P41231 42273 377 9.72 11 Cytosol;Cell membrane NA 7 PE1 NX_P41235 52785 474 7.15 20 Nucleoplasm;Nucleus Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young;Diabetes mellitus, non-insulin-dependent;Maturity-onset diabetes of the young 1 0 PE1 NX_P41236 23015 205 4.64 3 Cytoplasm;Nucleus NA 0 PE1 NX_P41238 28192 236 9.06 12 Cytoplasm NA 0 PE1 NX_P41240 50704 450 6.62 15 Cytoplasmic vesicle;Cytoplasm;Cytosol;Cell membrane NA 0 PE1 NX_P41247 27980 253 9.21 X Mitochondrion NA 0 PE1 NX_P41250 83166 739 6.61 7 Cytosol;Cytoplasm;Axon;Exosome;Secreted Charcot-Marie-Tooth disease 2D;Neuronopathy, distal hereditary motor, 5A 0 PE1 NX_P41252 144498 1262 5.82 9 Cytosol;Cytoplasm Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 PE1 NX_P41271 19408 181 5.15 1 Secreted NA 0 PE1 NX_P41273 26625 254 6.52 19 Golgi apparatus;Membrane NA 1 PE1 NX_P41279 52925 467 5.54 10 Cytosol;Cytoplasm NA 0 PE1 NX_P41439 27638 243 8.12 11 Secreted NA 0 PE1 NX_P41440 64868 591 9.15 21 Cell membrane;Membrane NA 12 PE1 NX_P41567 12732 113 6.9 17 NA NA 0 PE1 NX_P41586 53314 468 5.5 7 Cytoplasmic vesicle;Cell membrane NA 7 PE1 NX_P41587 49479 438 8.29 7 Cell membrane NA 7 PE1 NX_P41594 132469 1212 8.07 11 Cell membrane NA 7 PE1 NX_P41595 54298 481 9.22 2 Nucleoplasm;Synaptosome;Cell membrane NA 7 PE1 NX_P41597 41915 374 9.24 3 Cell membrane NA 7 PE1 NX_P41732 27574 249 6.86 X Membrane Mental retardation, X-linked 58 4 PE1 NX_P41743 68262 596 5.54 3 Endosome;Cytosol;Cytoplasm;Nucleus;Membrane;Cytoskeleton NA 0 PE1 NX_P41968 36043 323 6.34 20 Cell membrane NA 7 PE1 NX_P41970 44240 407 9.04 12 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 NX_P42025 42293 376 5.98 2 Cytoplasm;Cytoskeleton;Centrosome NA 0 PE1 NX_P42081 37682 329 6.46 3 Cell membrane NA 1 PE1 NX_P42126 32816 302 8.8 16 Mitochondrion matrix NA 0 PE1 NX_P42127 14515 132 9.78 20 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_P42166 75492 694 7.56 12 Nucleus;Chromosome;Nucleus membrane NA 0 PE1 NX_P42167 50670 454 9.39 12 Cytoplasm;Nucleus inner membrane NA 1 PE1 NX_P42224 87335 750 5.74 2 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Immunodeficiency 31B;Immunodeficiency 31C;Immunodeficiency 31A 0 PE1 NX_P42226 94135 847 5.84 12 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_P42229 90647 794 5.98 17 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_P42261 101506 906 7.79 5 Endoplasmic reticulum membrane;Early endosome membrane;Cell membrane;Dendrite;Postsynaptic cell membrane;Dendritic spine;Postsynaptic density;Recycling endosome membrane NA 3 PE1 NX_P42262 98821 883 7.48 4 Endoplasmic reticulum membrane;Postsynaptic cell membrane;Cell membrane NA 3 PE1 NX_P42263 101157 894 8.72 X Postsynaptic cell membrane;Cell membrane Mental retardation, X-linked 94 3 PE1 NX_P42285 117805 1042 6.12 5 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P42330 36853 323 8.06 10 Cytoplasm;Nucleus NA 0 PE1 NX_P42331 73435 645 6.04 2 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 NX_P42336 124284 1068 6.88 3 Cytosol Colorectal cancer;Keratosis, seborrheic;Ovarian cancer;Cowden syndrome 5;Hepatocellular carcinoma;Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi;Megalencephaly-capillary malformation-polymicrogyria syndrome;Breast cancer 0 PE1 NX_P42338 122762 1070 6.69 3 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;Midbody NA 0 PE1 NX_P42345 288892 2549 6.73 1 Endoplasmic reticulum membrane;PML body;Lysosome;Cytosol;Cytoplasm;Mitochondrion outer membrane;Cytoplasmic vesicle;Golgi apparatus membrane;Microsome membrane Focal cortical dysplasia 2;Smith-Kingsmore syndrome 0 PE1 NX_P42356 236830 2102 6.64 22 Cytoplasm;Cell membrane Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 PE1 NX_P42357 72698 657 6.49 12 Cytosol Histidinemia 0 PE1 NX_P42566 98656 896 4.52 1 Cytosol;Cytoplasm;Early endosome membrane;Clathrin-coated pit;Cell membrane;Cytoplasmic vesicle NA 0 PE1 NX_P42568 63351 568 8.77 9 Cytosol;Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_P42574 31608 277 6.09 4 Nucleoplasm;Mitochondrion;Cytoplasm NA 0 PE1 NX_P42575 50685 452 6.35 7 Nucleoplasm NA 0 PE1 NX_P42658 97588 865 5.95 7 Cell membrane Mental retardation, autosomal dominant 33;Familial paroxysmal ventricular fibrillation 2 1 PE1 NX_P42677 9461 84 9.57 1 NA Diamond-Blackfan anemia 17 0 PE1 NX_P42679 56469 507 9.01 19 Cytoplasm;Membrane NA 0 PE1 NX_P42680 73581 631 8.69 4 Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 NX_P42681 61258 527 8.23 4 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_P42684 128343 1182 8.31 1 Nucleoplasm;Cytoskeleton NA 0 PE1 NX_P42685 58254 505 6.22 6 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P42694 218970 1942 7.04 17 Cytoskeleton;Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_P42695 168891 1498 7.38 11 Nucleoplasm;Nucleus Microcephaly 22, primary, autosomal recessive 0 PE1 NX_P42696 48565 430 10.11 1 Nucleolus;Nucleus NA 0 PE1 NX_P42701 73109 662 5.28 19 Cell membrane;Membrane Immunodeficiency 30 1 PE1 NX_P42702 123743 1097 5.5 5 Nucleus speckle;Cell membrane;Golgi apparatus Stueve-Wiedemann syndrome 1 PE1 NX_P42704 157905 1394 5.81 2 Mitochondrion;Nucleoplasm;Nucleus inner membrane;Nucleus outer membrane Leigh syndrome French-Canadian type 0 PE1 NX_P42765 41924 397 8.32 18 Mitochondrion NA 0 PE1 NX_P42766 14551 123 11.04 9 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum NA 0 PE1 NX_P42768 52913 502 6.18 X Cytoskeleton;Nucleus Thrombocytopenia 1;Neutropenia, severe congenital, X-linked;Wiskott-Aldrich syndrome 0 PE1 NX_P42771 16533 156 5.52 9 Cytoplasm;Nucleus Melanoma, cutaneous malignant 2;Melanoma-astrocytoma syndrome;Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome 0 PE1 NX_P42772 14722 138 6.08 9 Nucleoplasm;Cytoplasm NA 0 PE1 NX_P42773 18127 168 6.05 1 Nucleoplasm;Cytosol NA 0 PE1 NX_P42785 55800 496 6.76 11 Lysosome NA 0 PE1 NX_P42830 11972 114 9.17 4 Secreted NA 0 PE1 NX_P42857 20913 185 5.6 4 Endoplasmic reticulum membrane;Golgi stack membrane;Lysosome lumen;trans-Golgi network membrane;Early endosome membrane;Endosome membrane;Dendrite;Late endosome membrane;Multivesicular body membrane;Membrane;Mitochondrion;Cytoplasmic vesicle membrane;Recycling endosome membrane NA 1 PE1 NX_P42858 347603 3142 5.81 4 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Huntington disease;Lopes-Maciel-Rodan syndrome 0 PE1 NX_P42892 87164 770 5.61 1 Cell membrane Hirschsprung disease, cardiac defects, and autonomic dysfunction 1 PE1 NX_P42898 74597 656 5.22 1 Cell junction Ischemic stroke;Neural tube defects, folate-sensitive;Schizophrenia;Methylenetetrahydrofolate reductase deficiency 0 PE1 NX_P43003 59572 542 8.52 5 Mitochondrion;Nucleolus;Cell membrane Episodic ataxia 6 8 PE1 NX_P43004 62104 574 6.09 11 Cell membrane Epileptic encephalopathy, early infantile, 41 8 PE1 NX_P43005 57100 524 5.56 9 Apical cell membrane;Cell membrane Schizophrenia 18;Dicarboxylic aminoaciduria 8 PE1 NX_P43007 55723 532 5.88 2 Melanosome;Centrosome;Membrane Spastic tetraplegia, thin corpus callosum, and progressive microcephaly 9 PE1 NX_P43026 55411 501 9.82 20 Cell membrane;Secreted Brachydactyly A1, C;Brachydactyly A2;Symphalangism, proximal 1B;Multiple synostoses syndrome 2;Acromesomelic chondrodysplasia, Hunter-Thompson type;Osteoarthritis 5;Du Pan syndrome;Brachydactyly C;Acromesomelic chondrodysplasia, Grebe type 0 PE1 NX_P43034 46638 410 6.97 17 Spindle;Cytoskeleton;Centrosome;Nucleus membrane Lissencephaly 1;Subcortical band heterotopia;Miller-Dieker lissencephaly syndrome 0 PE1 NX_P43080 22920 201 4.34 6 Cell membrane;Membrane Cone dystrophy 3 0 PE1 NX_P43088 40055 359 9.19 1 Cell membrane NA 7 PE1 NX_P43115 43310 390 9.73 1 Cell membrane NA 7 PE1 NX_P43116 39761 358 9.37 14 Cell membrane NA 7 PE1 NX_P43119 40956 386 8.9 19 Cell membrane NA 7 PE1 NX_P43121 71607 646 5.58 11 Cell membrane;Membrane NA 1 PE1 NX_P43146 158457 1447 6.32 18 Golgi apparatus;Membrane Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2 1 PE1 NX_P43155 70858 626 8.63 9 Nucleus membrane;Nucleoplasm;Endoplasmic reticulum;Mitochondrion inner membrane;Peroxisome;Mitochondrion Neurodegeneration with brain iron accumulation 8 0 PE1 NX_P43166 29658 264 6.92 16 Cytoplasm NA 0 PE1 NX_P43220 53026 463 8.49 6 Cell membrane NA 7 PE1 NX_P43234 35958 321 7.06 4 Lysosome NA 0 PE1 NX_P43235 36966 329 8.72 1 Cytoplasmic vesicle;Lysosome Pycnodysostosis 0 PE1 NX_P43243 94623 847 5.87 5 Nucleoplasm;Nucleus matrix Amyotrophic lateral sclerosis 21 0 PE1 NX_P43246 104743 934 5.58 2 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Chromosome Endometrial cancer;Hereditary non-polyposis colorectal cancer 1;Mismatch repair cancer syndrome;Muir-Torre syndrome;Colorectal cancer 0 PE1 NX_P43250 65991 576 8.32 5 Mitochondrion;Membrane NA 0 PE1 NX_P43251 61133 543 5.81 3 Extracellular space Biotinidase deficiency 0 PE1 NX_P43268 53938 484 5.31 17 Nucleolus;Nucleus NA 0 PE1 NX_P43304 80853 727 7.58 2 Mitochondrion NA 0 PE1 NX_P43307 32235 286 4.39 6 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 NX_P43308 20135 183 7.94 1 Endoplasmic reticulum membrane NA 1 PE1 NX_P43320 23380 205 6.5 22 Nucleoplasm Cataract 3, multiple types 0 PE1 NX_P43351 46169 418 8.49 12 Nucleus speckle;Nucleus;Cell membrane NA 0 PE1 NX_P43353 51840 468 7.55 11 Cell membrane NA 0 PE1 NX_P43354 66591 598 8.19 2 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_P43355 34342 309 4.83 X Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P43356 35055 314 4.7 X PML body;Nucleus NA 0 PE1 NX_P43357 34747 314 4.57 X NA NA 0 PE1 NX_P43358 34899 317 4.68 X Cytosol;Nucleus speckle NA 0 PE1 NX_P43359 13016 124 4.63 X NA NA 0 PE2 NX_P43360 34891 314 4.57 X NA NA 0 PE1 NX_P43361 35215 318 4.71 X NA NA 0 PE1 NX_P43362 35088 315 4.49 X NA NA 0 PE1 NX_P43363 40780 369 4.32 X Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_P43364 48129 429 4.69 X Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 NX_P43365 34836 314 4.71 X NA NA 0 PE1 NX_P43366 39037 347 8.56 X NA NA 0 PE1 NX_P43378 68020 593 8.19 15 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_P43403 69872 619 7.78 2 Cytoplasm;Cell membrane Immunodeficiency 48;Autoimmune disease, multisystem, infantile-onset, 2 0 PE1 NX_P43405 72066 635 8.43 9 Cytosol;Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_P43487 23310 201 5.19 22 Cytosol;Cytoplasm NA 0 PE1 NX_P43489 29341 277 8.68 1 Membrane Immunodeficiency 16 1 PE1 NX_P43490 55521 491 6.69 7 Nucleus speckle;Secreted;Nucleus;Cell junction;Cytoplasm NA 0 PE1 NX_P43626 38505 348 6.34 19 Cell membrane NA 1 PE1 NX_P43627 38472 348 6.46 19 Cell membrane NA 1 PE1 NX_P43628 37886 341 6.23 19 Cell membrane NA 1 PE1 NX_P43629 49098 444 9.02 19 Cell membrane NA 1 PE1 NX_P43630 50230 455 8.78 19 Cell membrane NA 1 PE1 NX_P43631 33502 304 6.13 19 Cell membrane NA 1 PE1 NX_P43632 33583 304 5.98 19 Cell membrane NA 1 PE1 NX_P43652 69069 599 5.64 4 Secreted NA 0 PE1 NX_P43657 39392 344 9.22 13 Cytoplasmic vesicle;Cell membrane Hypotrichosis 8;Woolly hair autosomal recessive 1 with or without hypotrichosis 7 PE1 NX_P43681 69957 627 6.81 20 Postsynaptic cell membrane;Cell membrane Epilepsy, nocturnal frontal lobe, 1 4 PE1 NX_P43686 47366 418 5.09 19 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P43694 44565 442 9.39 8 Nucleus Atrioventricular septal defect 4;Testicular anomalies with or without congenital heart disease;Tetralogy of Fallot;Atrial septal defect 2;Ventricular septal defect 1 0 PE1 NX_P43699 38596 371 9.72 14 Cytoplasmic vesicle;Nucleus;Golgi apparatus Chorea, hereditary benign;Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction;Thyroid cancer, non-medullary, 1 0 PE1 NX_P43897 35391 325 8.62 12 Mitochondrion;Nucleus Combined oxidative phosphorylation deficiency 3 0 PE1 NX_P45378 31825 269 5.71 11 NA Arthrogryposis, distal, 2B 0 PE1 NX_P45379 35924 298 4.94 1 Focal adhesion;Nucleolus;Nucleus Cardiomyopathy, familial hypertrophic 2;Cardiomyopathy, dilated 1D;Cardiomyopathy, familial restrictive 3 0 PE1 NX_P45381 35735 313 6.06 17 Cytosol;Cytoplasm;Nucleus Canavan disease 0 PE1 NX_P45452 53820 471 5.32 11 Extracellular matrix;Secreted Metaphyseal dysplasia, Spahr type;Spondyloepimetaphyseal dysplasia Missouri type;Metaphyseal anadysplasia 1 0 PE1 NX_P45844 75592 678 8.02 21 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus NA 6 PE1 NX_P45877 22763 212 8.48 5 Cytoplasm NA 0 PE1 NX_P45880 31567 294 7.5 10 Mitochondrion;Mitochondrion outer membrane NA 19 PE1 NX_P45954 47485 432 6.53 10 Mitochondrion;Mitochondrion matrix Short/branched-chain acyl-CoA dehydrogenase deficiency 0 PE1 NX_P45973 22225 191 5.71 12 Centromere;Nucleus;Chromosome NA 0 PE1 NX_P45974 95786 858 4.91 12 Cytosol;Nucleoplasm NA 0 PE1 NX_P45983 48296 427 6.43 10 Cytoplasm;Nucleus NA 0 PE1 NX_P45984 48139 424 5.41 5 Cytoplasm;Nucleus NA 0 PE1 NX_P45985 44288 399 8.28 17 Nucleoplasm;Cytoplasm;Nucleus;Cell junction NA 0 PE1 NX_P46013 358694 3256 9.49 10 Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_P46019 138408 1235 5.99 X Nucleoplasm;Cell membrane Glycogen storage disease 9A 0 PE1 NX_P46020 137312 1223 5.8 X Cytoplasmic vesicle;Cell membrane Glycogen storage disease 9D 0 PE1 NX_P46059 78806 708 8.72 13 Cytosol;Nucleoplasm;Membrane NA 12 PE1 NX_P46060 63542 587 4.63 22 Kinetochore;Nucleus membrane;Cytosol;Cytoplasm;Nucleus envelope;Cytoplasmic vesicle;Nucleoplasm;Spindle NA 0 PE1 NX_P46063 73457 649 8.13 12 Nucleoplasm;Nucleus NA 0 PE1 NX_P46087 89302 812 9.27 12 Nucleolus;Nucleus NA 0 PE1 NX_P46089 35010 330 8.4 1 Cell membrane NA 7 PE1 NX_P46091 41431 355 6.98 2 Nucleoplasm;Cytoplasmic vesicle;Cell membrane NA 7 PE1 NX_P46092 38416 362 9.85 17 Cell membrane;Endoplasmic reticulum NA 7 PE1 NX_P46093 40982 362 8.82 19 Cell membrane NA 7 PE2 NX_P46094 38508 333 8.94 3 Cell membrane NA 7 PE1 NX_P46095 37881 362 7.61 6 Cell membrane NA 7 PE1 NX_P46098 55280 478 7.04 11 Postsynaptic cell membrane;Cell membrane NA 4 PE1 NX_P46100 282586 2492 6.2 X PML body;Nucleus;Telomere Alpha-thalassemia mental retardation syndrome, X-linked;Alpha-thalassemia myelodysplasia syndrome;Mental retardation, X-linked, syndromic, with hypotonic facies 1 0 PE1 NX_P46108 33831 304 5.38 17 Cytoplasm;Cell membrane NA 0 PE1 NX_P46109 33777 303 6.26 22 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 NX_P46199 81317 727 6.71 2 Mitochondrion NA 0 PE1 NX_P46379 119409 1132 5.4 6 Nucleoplasm;Cytosol;Nucleus;Exosome NA 0 PE1 NX_P46439 25675 218 6.91 1 Cytoplasm NA 0 PE1 NX_P46459 82594 744 6.52 17 Cytosol;Cytoplasm NA 0 PE1 NX_P46527 22073 198 6.54 12 Cytoplasmic vesicle;Cytoplasm;Endosome;Nucleus Multiple endocrine neoplasia 4 0 PE1 NX_P46531 272505 2555 4.95 9 Nucleoplasm;Nucleus;Cell membrane Aortic valve disease 1;Adams-Oliver syndrome 5 1 PE1 NX_P46597 38453 345 5.05 X NA NA 0 PE1 NX_P46663 40495 353 9.5 14 Cell membrane NA 7 PE1 NX_P46695 16903 156 8.61 6 Membrane NA 1 PE1 NX_P46721 74145 670 5.69 12 Cell membrane NA 12 PE1 NX_P46734 39318 347 7.05 17 Nucleoplasm;Cytosol NA 0 PE1 NX_P46736 36072 316 5.59 X Nucleoplasm;Cytoplasm;Nucleus;Spindle pole NA 0 PE1 NX_P46776 16561 148 11 11 Cytosol;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_P46777 34363 297 9.73 1 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum Diamond-Blackfan anemia 6 0 PE1 NX_P46778 18565 160 10.49 13 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum Hypotrichosis 12 0 PE1 NX_P46779 15748 137 12.02 19 Cytosol;Endoplasmic reticulum NA 0 PE1 NX_P46781 22591 194 10.66 19 Cytoplasm NA 0 PE1 NX_P46782 22876 204 9.73 19 Cytosol;Endoplasmic reticulum NA 0 PE1 NX_P46783 18898 165 10.15 6 Cytoplasm;Nucleolus Diamond-Blackfan anemia 9 0 PE1 NX_P46821 270634 2468 4.73 5 Cytosol;Cytoplasm;Synapse;Cytoskeleton;Dendritic spine NA 0 PE1 NX_P46926 32669 289 6.42 5 Cytoplasm NA 0 PE1 NX_P46934 149114 1319 6.15 15 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_P46937 54462 504 5 11 Cytoplasm;Nucleolus;Nucleus Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 0 PE1 NX_P46939 394466 3433 5.2 6 Nucleoplasm;Cytoskeleton;Postsynaptic cell membrane;Cell membrane NA 0 PE1 NX_P46940 189252 1657 6.08 15 Cytoplasm;Nucleus;Cell junction;Cell membrane NA 0 PE1 NX_P46952 32556 286 5.62 2 Cytosol Vertebral, cardiac, renal, and limb defects syndrome 1 0 PE1 NX_P46976 39384 350 5.27 3 Cytoplasmic vesicle Glycogen storage disease 15;Polyglucosan body myopathy 2 0 PE1 NX_P46977 80530 705 8.28 11 Endoplasmic reticulum membrane;Cytosol;Cytoplasmic vesicle;Endoplasmic reticulum;Nucleoplasm Congenital disorder of glycosylation 1W 13 PE1 NX_P47211 38953 349 9.55 18 Cell membrane NA 7 PE1 NX_P47224 13839 123 5.37 1 Cytoskeleton NA 0 PE1 NX_P47710 21671 185 5.32 4 Secreted NA 0 PE1 NX_P47712 85239 749 5.22 1 Cytoplasmic vesicle;Cytoplasm;Cytosol NA 0 PE1 NX_P47736 73361 663 5.55 1 Cytosol;Golgi apparatus membrane NA 0 PE1 NX_P47755 32949 286 5.57 7 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_P47756 31350 277 5.36 1 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleoplasm;Sarcomere;Cytoskeleton NA 0 PE1 NX_P47775 36730 334 6.63 13 Cell membrane NA 7 PE1 NX_P47804 31874 291 8.35 10 Membrane Retinitis pigmentosa 44 7 PE1 NX_P47813 16460 144 5.07 X Cytoplasm NA 0 PE1 NX_P47869 51326 451 9.17 4 Dendrite;Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane NA 4 PE1 NX_P47870 59150 512 9.39 5 Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane Epileptic encephalopathy, infantile or early childhood, 2 4 PE1 NX_P47871 54009 477 9.01 17 Golgi apparatus;Cell membrane NA 7 PE1 NX_P47872 50207 440 7.88 2 Cell membrane NA 7 PE1 NX_P47874 18937 163 5.33 11 Cytoplasm NA 0 PE1 NX_P47881 34609 315 9.27 17 Cell membrane NA 7 PE2 NX_P47883 37194 348 6.47 17 Cell membrane NA 7 PE5 NX_P47884 35227 311 8.29 17 Cell membrane NA 7 PE1 NX_P47887 36391 323 7.9 17 Cell membrane NA 7 PE2 NX_P47888 34963 321 7.01 17 Cell membrane NA 7 PE2 NX_P47890 34924 313 6.53 17 Cell membrane NA 7 PE2 NX_P47893 35207 321 7.56 17 Cell membrane NA 7 PE2 NX_P47895 56108 512 6.99 15 Cytosol;Cytoplasm;Nucleus Microphthalmia, isolated, 8 0 PE1 NX_P47897 87799 775 6.71 3 Cytosol;Cytoplasm Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 0 PE1 NX_P47898 40255 357 9 7 Cell membrane NA 7 PE2 NX_P47900 42072 373 9.45 3 Cell membrane NA 7 PE1 NX_P47901 46971 424 9.21 1 Cell membrane NA 7 PE2 NX_P47902 28138 265 9.58 5 Nucleus NA 0 PE1 NX_P47914 17752 159 11.66 3 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_P47928 16622 161 8.69 6 Nucleus NA 0 PE1 NX_P47929 15075 136 7.02 19 Cytoplasm;Nucleus;Secreted NA 0 PE1 NX_P47944 6509 62 8.26 16 NA NA 0 PE2 NX_P47972 47042 431 5.45 7 Cytoskeleton;Centrosome;Golgi apparatus;Secreted NA 0 PE1 NX_P47974 51063 494 8.52 2 Cytoplasm;Nucleus NA 0 PE1 NX_P47985 29668 274 8.55 19 Cytoplasm;Mitochondrion inner membrane NA 1 PE1 NX_P47989 146424 1333 7.86 2 Cytoplasm;Secreted;Nucleus;Peroxisome Xanthinuria 1 0 PE1 NX_P47992 12517 114 10.22 1 Secreted NA 0 PE1 NX_P48023 31485 281 9.41 1 Cytoplasmic vesicle lumen;Lysosome lumen;Nucleus;Cell membrane;Secreted Autoimmune lymphoproliferative syndrome 1B 1 PE1 NX_P48029 70523 635 6.02 X Membrane Cerebral creatine deficiency syndrome 1 12 PE1 NX_P48039 39375 350 9.55 4 Cell membrane NA 7 PE1 NX_P48047 23277 213 9.97 21 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_P48048 44795 391 9.03 11 Cell membrane Bartter syndrome 2, antenatal 2 PE1 NX_P48050 49500 445 5.82 22 Cytoplasmic vesicle membrane;Postsynaptic cell membrane;Cell membrane NA 2 PE1 NX_P48051 48451 423 5.24 21 Membrane Keppen-Lubinsky syndrome 2 PE1 NX_P48052 47030 419 5.68 7 Secreted NA 0 PE1 NX_P48058 100871 902 8.32 11 Dendrite;Postsynaptic cell membrane;Cell membrane Neurodevelopmental disorder with or without seizures and gait abnormalities 3 PE1 NX_P48059 37251 325 8.43 2 Focal adhesion;Cell membrane NA 0 PE1 NX_P48060 30366 266 8.8 12 Membrane NA 1 PE1 NX_P48061 10666 93 9.92 10 Secreted NA 0 PE1 NX_P48065 69368 614 5.96 12 Cytoplasmic vesicle;Membrane NA 12 PE1 NX_P48066 70606 632 6.52 3 Membrane NA 12 PE1 NX_P48067 78260 706 8.21 1 Nucleus;Golgi apparatus;Membrane Glycine encephalopathy with normal serum glycine 12 PE1 NX_P48145 36103 328 9.05 8 Cell membrane NA 7 PE1 NX_P48146 36861 333 9.35 20 Cell membrane NA 7 PE1 NX_P48147 80700 710 5.53 6 Cytosol;Cytoplasm NA 0 PE1 NX_P48163 64150 572 5.79 6 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA 0 PE1 NX_P48165 48229 433 5.21 1 Gap junction;Cell membrane Cataract 1, multiple types 4 PE1 NX_P48167 56122 497 9.03 4 Cytoplasm;Synapse;Postsynaptic cell membrane;Cell membrane;Dendrite Hyperekplexia 2 4 PE1 NX_P48169 61623 554 9.59 4 Postsynaptic cell membrane;Cell membrane NA 4 PE1 NX_P48200 105059 963 6.62 15 Cytosol;Cytoplasm;Cell junction NA 0 PE1 NX_P48201 14693 142 9.57 2 Mitochondrion membrane NA 2 PE1 NX_P48230 21396 202 4.91 3 Cytosol;Cell membrane;Membrane NA 4 PE1 NX_P48304 18665 166 5.67 2 Secreted NA 0 PE1 NX_P48307 26934 235 8.88 7 Secreted NA 0 PE1 NX_P48357 132494 1165 6.09 1 Cytoplasmic vesicle;Basolateral cell membrane;Cell membrane;Secreted Leptin receptor deficiency 1 PE1 NX_P48378 79987 723 6.29 19 Cytosol;Nucleoplasm;Nucleus;Golgi apparatus;Cytoplasm NA 0 PE1 NX_P48380 83530 749 5.64 9 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_P48382 65323 616 9.35 1 Nucleus Bare lymphocyte syndrome 2 0 PE1 NX_P48426 46225 406 6.5 10 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Cell membrane NA 0 PE1 NX_P48431 34310 317 9.74 3 Nucleoplasm;Nucleus Microphthalmia, syndromic, 3 0 PE1 NX_P48436 56137 509 6.31 17 Nucleoplasm;Nucleus 46,XX sex reversal 2;46,XY sex reversal 10;Campomelic dysplasia 0 PE1 NX_P48443 50871 463 7.55 1 Nucleoplasm;Nucleus NA 0 PE1 NX_P48444 57210 511 5.89 11 COPI-coated vesicle membrane;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 0 PE1 NX_P48448 42635 385 5.65 11 Lipid droplet NA 0 PE2 NX_P48449 83309 732 6.16 21 Cytosol;Endoplasmic reticulum membrane Cataract 44 0 PE1 NX_P48454 58129 512 6.51 8 Cytoplasmic vesicle NA 0 PE1 NX_P48506 72766 637 5.74 6 Cytosol;Nucleolus;Nucleus Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 0 PE1 NX_P48507 30727 274 5.7 1 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 NX_P48509 28295 253 7.45 11 Membrane Nephropathy with pretibial epidermolysis bullosa and deafness 4 PE1 NX_P48539 6791 62 6.21 21 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_P48544 47668 419 5.24 11 Membrane Long QT syndrome 13;Hyperaldosteronism, familial, 3 2 PE1 NX_P48546 53157 466 9.09 19 Cell membrane NA 7 PE1 NX_P48547 57942 511 6.13 11 Cytosol;Cytoplasmic vesicle;Nucleus;Cell membrane;Nucleus membrane Epilepsy, progressive myoclonic 7 6 PE1 NX_P48549 56603 501 8.46 2 Membrane NA 2 PE1 NX_P48551 57759 515 4.37 21 Cell membrane;Secreted Immunodeficiency 45 1 PE1 NX_P48552 126942 1158 8.36 21 Nucleolus;Nucleus NA 0 PE1 NX_P48553 142189 1259 5.68 21 cis-Golgi network NA 0 PE1 NX_P48556 39612 350 9.73 19 Cytosol;Cytoplasm;Golgi apparatus;Nucleus speckle NA 0 PE1 NX_P48594 44854 390 5.86 18 Cytoplasm NA 0 PE1 NX_P48595 45403 397 5.8 18 Cytoplasm;Nucleus NA 0 PE1 NX_P48634 228863 2157 9.48 6 Cytosol;Nucleoplasm;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 NX_P48637 52385 474 5.67 20 Nucleus Glutathione synthetase deficiency of erythrocytes;Glutathione synthetase deficiency 0 PE1 NX_P48643 59671 541 5.45 5 Cytosol;Cytoplasm;Nucleolus;Centrosome Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 0 PE1 NX_P48645 19741 174 9.14 4 Secreted NA 0 PE1 NX_P48651 55528 473 8.71 8 Nucleoplasm;Endoplasmic reticulum membrane;Endoplasmic reticulum Lenz-Majewski hyperostotic dwarfism 9 PE1 NX_P48664 61565 564 9.26 19 Cytoskeleton;Cell membrane NA 8 PE1 NX_P48668 60025 564 8.09 12 NA Palmoplantar keratoderma, non-epidermolytic, focal or diffuse 0 PE1 NX_P48681 177439 1621 4.35 1 Cytoskeleton NA 0 PE1 NX_P48723 51927 471 5.52 21 Microsome;Endoplasmic reticulum NA 0 PE1 NX_P48728 43946 403 8.87 3 Mitochondrion;Nucleoplasm Non-ketotic hyperglycinemia 0 PE1 NX_P48729 38915 337 9.59 5 Kinetochore;Nucleus speckle;Cilium basal body;Centrosome;Cytoplasm NA 0 PE1 NX_P48730 47330 415 9.77 17 Nucleolus;Golgi apparatus;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Spindle;Centrosome Advanced sleep phase syndrome, familial, 2 0 PE1 NX_P48735 50909 452 8.88 15 Mitochondrion Glioma;D-2-hydroxyglutaric aciduria 2 0 PE1 NX_P48736 126454 1102 7.23 7 Cytoplasm;Cell membrane NA 0 PE1 NX_P48739 31540 271 6.41 22 Cytoplasm;Golgi apparatus NA 0 PE1 NX_P48740 79247 699 5.29 3 Nucleoplasm;Cytosol;Secreted 3MC syndrome 1 0 PE1 NX_P48741 40244 367 7.72 1 NA NA 0 PE5 NX_P48742 44808 406 7.86 17 Nucleus NA 0 PE1 NX_P48745 39162 357 8.12 8 Cytoplasmic vesicle;Cytoplasm;Gap junction;Secreted NA 0 PE1 NX_P48751 135791 1232 6.01 2 Nucleoplasm;Membrane NA 10 PE1 NX_P48764 92855 834 7.05 5 Apical cell membrane;Cell membrane Diarrhea 8, secretory sodium, congenital 10 PE1 NX_P48775 47872 406 6.46 4 Cytosol;Cell membrane Hypertryptophanemia 0 PE1 NX_P48788 21339 182 8.87 11 Cytoskeleton;Cell membrane Arthrogryposis, distal, 2B 0 PE1 NX_P48960 91869 835 6.5 19 Cytosol;Extracellular space;Cell membrane NA 7 PE1 NX_P48995 91212 793 8.33 3 Cytoplasmic vesicle;Membrane NA 6 PE1 NX_P49005 51289 469 5.35 7 Nucleoplasm;Nucleus NA 0 PE1 NX_P49006 19529 195 4.68 1 Cytosol;Nucleoplasm;Cytoskeleton;Cell membrane NA 0 PE1 NX_P49019 44478 387 9.09 12 Cell membrane NA 7 PE1 NX_P49023 64505 591 5.8 12 Cytosol;Cytoskeleton;Focal adhesion;Cell cortex;Centrosome NA 0 PE1 NX_P49069 32953 296 8.2 5 Cytoplasmic vesicle;Nucleolus;Nucleus;Membrane NA 2 PE1 NX_P49116 65414 596 5.89 3 Nucleoplasm;Nucleus NA 0 PE1 NX_P49137 45568 400 8.87 1 Nucleoplasm;Cytoplasm;Nucleus;Centrosome NA 0 PE1 NX_P49146 42731 381 6.79 4 Cell membrane NA 7 PE1 NX_P49184 33893 302 5.45 X Endoplasmic reticulum NA 0 PE1 NX_P49189 53802 494 5.69 1 Cytosol;Cytoplasm NA 0 PE1 NX_P49190 62236 550 6.65 2 Cell membrane NA 7 PE1 NX_P49207 13293 117 11.48 4 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum NA 0 PE1 NX_P49221 77145 684 6.31 3 NA NA 0 PE1 NX_P49223 10252 89 6.21 20 Secreted NA 0 PE1 NX_P49238 40396 355 6.74 3 Nucleus;Cell membrane Macular degeneration, age-related, 12 7 PE1 NX_P49247 33269 311 8.78 2 NA Ribose 5-phosphate isomerase deficiency 0 PE1 NX_P49257 57549 510 6.3 18 Cytosol;Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane Factor V and factor VIII combined deficiency 1 1 PE1 NX_P49279 59872 550 7.58 2 Membrane NA 12 PE1 NX_P49281 62266 568 5.72 12 Endosome membrane;Mitochondrion;Mitochondrion outer membrane;Cell membrane;Early endosome Anemia, hypochromic microcytic, with iron overload 1 12 PE1 NX_P49286 40188 362 9.12 11 Cell membrane NA 7 PE1 NX_P49321 85238 788 4.26 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P49326 60221 533 8.41 1 Endoplasmic reticulum membrane;Microsome membrane;Cytosol;Endoplasmic reticulum NA 1 PE1 NX_P49327 273427 2511 6.01 17 Cytosol;Cytoplasm;Melanosome;Cell membrane NA 0 PE1 NX_P49335 39427 361 7.07 X Nucleus Deafness, X-linked, 2 0 PE1 NX_P49336 53284 464 8.72 13 Nucleus NA 0 PE1 NX_P49354 44409 379 4.96 8 Cytosol NA 0 PE1 NX_P49356 48774 437 5.51 14 Centrosome NA 0 PE1 NX_P49366 40971 369 5.22 19 Nucleoplasm;Cytosol;Cell membrane NA 0 PE1 NX_P49368 60534 545 6.1 1 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_P49406 33535 292 9.55 2 Mitochondrion NA 0 PE1 NX_P49407 47066 418 5.84 11 Pseudopodium;Nucleoplasm;Cytoplasm;Clathrin-coated pit;Cell membrane;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P49411 49542 452 7.26 16 Mitochondrion Combined oxidative phosphorylation deficiency 4 0 PE1 NX_P49418 76257 695 4.58 7 Cytosol;Synaptic vesicle membrane;Cytoskeleton;Cell membrane NA 0 PE1 NX_P49419 58487 539 8.21 5 Cytosol;Mitochondrion;Nucleus Pyridoxine-dependent epilepsy 0 PE1 NX_P49427 26737 236 4.41 19 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_P49441 43998 399 5.15 2 Cytoplasmic vesicle NA 0 PE1 NX_P49447 27559 251 8.73 17 Membrane NA 6 PE1 NX_P49448 61434 558 8.63 X Mitochondrion matrix NA 0 PE1 NX_P49450 15991 140 11.71 2 Nucleoplasm;Kinetochore;Centromere;Nucleus NA 0 PE1 NX_P49454 367764 3210 5.03 1 Kinetochore;Nucleoplasm;Perinuclear region;Nucleus matrix;Spindle Stromme syndrome 0 PE1 NX_P49458 10112 86 7.76 1 Cytoplasm NA 0 PE1 NX_P49459 17315 152 5.06 X NA Mental retardation, X-linked, syndromic, Nascimento-type 0 PE1 NX_P49585 41731 367 6.82 3 Cytosol;Nucleus;Membrane Spondylometaphyseal dysplasia with cone-rod dystrophy 0 PE1 NX_P49588 106810 968 5.34 16 Cytosol;Cytoplasm Charcot-Marie-Tooth disease 2N;Epileptic encephalopathy, early infantile, 29 0 PE1 NX_P49589 85473 748 6.31 11 Cytosol;Cytoplasm NA 0 PE1 NX_P49590 56888 506 8.53 5 Mitochondrion matrix;Cytosol Perrault syndrome 2 0 PE1 NX_P49591 58777 514 6.05 1 Cytosol;Cytoplasm;Nucleus Neurodevelopmental disorder with microcephaly, ataxia, and seizures 0 PE1 NX_P49593 49831 454 4.99 22 Nucleoplasm;Cell membrane NA 0 PE1 NX_P49619 89124 791 6.36 3 Cytoplasmic vesicle;Cytoplasm;Cell membrane;Membrane NA 0 PE1 NX_P49638 31750 278 7.17 8 Cytoplasm Ataxia with isolated vitamin E deficiency 0 PE1 NX_P49639 36641 335 8.13 7 Nucleus Bosley-Salih-Alorainy syndrome;Athabaskan brainstem dysgenesis syndrome 0 PE1 NX_P49640 42440 407 6.41 7 Nucleoplasm;Nucleus NA 0 PE2 NX_P49641 130539 1150 6.35 15 Cytosol;Golgi apparatus membrane NA 1 PE1 NX_P49642 49902 420 8.39 12 Cytoplasmic vesicle NA 0 PE1 NX_P49643 58806 509 7.97 6 Nucleoplasm NA 0 PE1 NX_P49662 43262 377 5.69 11 Endoplasmic reticulum membrane;Secreted;Cytosol;Inflammasome;Cell membrane;Mitochondrion NA 0 PE1 NX_P49674 47315 416 9.68 22 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P49675 31914 285 9.17 8 Mitochondrion Adrenal hyperplasia 1 0 PE1 NX_P49682 40660 368 7.92 X Cell membrane NA 7 PE1 NX_P49683 41121 370 9.43 10 Cell membrane NA 7 PE1 NX_P49685 40787 360 9.01 3 Cell membrane NA 7 PE1 NX_P49703 22156 201 9.94 17 Nucleolus;Golgi apparatus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P49711 82785 727 6.51 16 Nucleoplasm;Centromere;Chromosome Mental retardation, autosomal dominant 21 0 PE1 NX_P49715 37561 358 7.27 19 Cytoplasmic vesicle;Nucleoplasm;Nucleolus;Nucleus Leukemia, acute myelogenous 0 PE1 NX_P49716 28467 269 8.44 8 Nucleoplasm;Nucleus NA 0 PE1 NX_P49720 22949 205 6.14 17 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 NX_P49721 22836 201 6.52 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P49736 101896 904 5.34 3 Nucleoplasm;Nucleus Deafness, autosomal dominant, 70 0 PE1 NX_P49746 104201 956 4.43 1 Cytoplasmic vesicle NA 0 PE1 NX_P49747 82860 757 4.36 19 Golgi apparatus;Extracellular matrix Pseudoachondroplasia;Multiple epiphyseal dysplasia 1 0 PE1 NX_P49748 70390 655 8.92 17 Mitochondrion;Mitochondrion inner membrane;Nucleolus;Nucleus Acyl-CoA dehydrogenase very long-chain deficiency 0 PE1 NX_P49750 241645 2146 6.12 14 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_P49753 53218 483 8.7 14 Mitochondrion NA 0 PE1 NX_P49754 98566 854 5.56 7 Late endosome;Lysosome;Endosome membrane;trans-Golgi network;Early endosome;Clathrin-coated vesicle NA 0 PE1 NX_P49755 24976 219 6.98 14 Endoplasmic reticulum membrane;trans-Golgi network membrane;Golgi apparatus;Cell membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Melanosome;Secretory vesicle membrane NA 1 PE1 NX_P49756 100185 843 6.06 14 Cytoplasm;Nucleus speckle NA 0 PE1 NX_P49757 70804 651 8.79 14 Cytosol;Cell junction;Membrane NA 0 PE1 NX_P49758 54423 472 7.05 14 Cytosol;Cytoplasm;Nucleus;Cell membrane;Membrane NA 0 PE1 NX_P49759 57291 484 9.05 2 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_P49760 60090 499 9.69 1 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_P49761 73515 638 9.94 15 Nucleus speckle;Acrosome;Nucleoplasm;Cytoplasm;Nucleus;Cytoskeleton NA 0 PE1 NX_P49763 24789 221 8.52 14 Mitochondrion;Cytosol;Nucleoplasm;Secreted NA 0 PE1 NX_P49765 21602 207 8.46 11 Secreted NA 0 PE1 NX_P49767 46883 419 7.77 4 Secreted Lymphedema, hereditary, 1D 0 PE1 NX_P49768 52668 467 5.18 14 Endoplasmic reticulum membrane;Golgi apparatus;Cell membrane;Cytoplasmic granule;Nucleus;Golgi apparatus membrane;Cell junction Frontotemporal dementia;Acne inversa, familial, 3;Cardiomyopathy, dilated 1U;Alzheimer disease 3 9 PE1 NX_P49770 38990 351 5.77 14 Nucleoplasm;Focal adhesion;Cell membrane Leukodystrophy with vanishing white matter 0 PE1 NX_P49771 26416 235 7.6 19 Cell membrane;Secreted NA 1 PE1 NX_P49773 13802 126 6.43 5 Cytosol;Cytoplasm;Nucleus;Cell membrane Neuromyotonia and axonal neuropathy, autosomal recessive 0 PE1 NX_P49788 33285 294 8.74 3 Endoplasmic reticulum;Golgi apparatus;Membrane NA 1 PE1 NX_P49789 16858 147 6.54 3 Mitochondrion;Cytoplasm;Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_P49790 153938 1475 8.97 6 Nuclear pore complex;Nucleus;Nucleus membrane NA 0 PE1 NX_P49792 358199 3224 5.86 2 Nuclear pore complex;Nucleus;Nucleus envelope;Nucleus membrane Encephalopathy, acute, infection-induced, 3 0 PE1 NX_P49795 24636 217 5.43 20 Nucleolus;Cell junction;Membrane NA 0 PE1 NX_P49796 132336 1198 5.9 9 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Mitochondrion NA 0 PE1 NX_P49798 23256 205 8.69 1 Cytoskeleton Schizophrenia 0 PE1 NX_P49802 57668 495 8.33 1 Cytosol;Cytoplasm;Cell membrane;Membrane NA 0 PE1 NX_P49810 50140 448 4.51 1 Endoplasmic reticulum membrane;Golgi apparatus membrane Alzheimer disease 4;Cardiomyopathy, dilated 1V 8 PE1 NX_P49815 200608 1807 6.98 16 Cytosol;Cytoplasm;Membrane Tuberous sclerosis 2;Focal cortical dysplasia 2;Lymphangioleiomyomatosis 0 PE1 NX_P49821 50817 464 8.51 11 Mitochondrion;Cytosol;Mitochondrion inner membrane Mitochondrial complex I deficiency;Leigh syndrome 0 PE1 NX_P49840 50981 483 8.95 19 Cytosol NA 0 PE1 NX_P49841 46744 420 8.98 3 Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_P49842 40916 368 9.8 6 Nucleus speckle;Nucleus NA 0 PE1 NX_P49848 72668 677 8.83 7 Cytosol;Nucleoplasm;Nucleus Alazami-Yuan syndrome 0 PE1 NX_P49862 27525 253 8.82 19 Nucleus membrane;Cell membrane;Secreted NA 0 PE1 NX_P49863 28882 264 9.48 5 Cytoplasmic granule;Secreted NA 0 PE1 NX_P49888 35126 294 6.18 4 Cytosol;Cytoplasm;Nucleus membrane NA 0 PE1 NX_P49895 28924 249 8.9 1 Endoplasmic reticulum membrane NA 1 PE1 NX_P49901 12767 116 8.49 1 Cytoplasm;Mitochondrion membrane NA 0 PE1 NX_P49902 64970 561 5.75 10 Cytoplasm Spastic paraplegia 45, autosomal recessive 0 PE1 NX_P49903 42911 392 5.65 10 Nucleoplasm;Cytoplasm;Cell membrane;Nucleus membrane NA 0 PE1 NX_P49908 43174 381 8.08 5 Nucleus;Golgi apparatus;Secreted NA 0 PE1 NX_P49910 55771 485 6.74 6 Nucleus speckle;Cytoskeleton;Nucleus NA 0 PE1 NX_P49913 19301 170 9.48 3 Secreted NA 0 PE1 NX_P49914 23256 203 7.71 15 Cytosol;Cytoplasm NA 0 PE1 NX_P49915 76715 693 6.42 3 Cytosol;Cytoplasm NA 0 PE1 NX_P49916 112907 1009 9.17 17 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_P49917 103971 911 8.17 13 Nucleoplasm;Cytosol;Nucleus LIG4 syndrome;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation 0 PE1 NX_P49918 32177 316 5.39 11 Cytosol;Nucleoplasm;Nucleus Beckwith-Wiedemann syndrome;Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 0 PE1 NX_P49959 80593 708 5.61 11 Nucleoplasm;Nucleus;Chromosome;Telomere Ataxia-telangiectasia-like disorder 1 0 PE1 NX_P49961 57965 510 5.93 10 Cytoskeleton;Membrane Spastic paraplegia 64, autosomal recessive 2 PE1 NX_P50052 41184 363 9.31 X Cell membrane NA 7 PE1 NX_P50053 32523 298 5.91 2 Cytosol Fructosuria 0 PE1 NX_P50120 15707 134 5.27 3 Cytoplasm;Golgi apparatus NA 0 PE1 NX_P50135 33295 292 5.18 2 Cytoplasm Mental retardation, autosomal recessive 51 0 PE1 NX_P50148 42142 359 5.48 9 Nucleus speckle;Nucleus membrane;Cytosol;Cell membrane;Nucleus;Membrane Sturge-Weber syndrome;Capillary malformations, congenital 0 PE1 NX_P50150 8389 75 6.55 1 Cell membrane NA 0 PE1 NX_P50151 7205 68 7.71 9 Cell membrane NA 0 PE1 NX_P50213 39592 366 6.46 15 Mitochondrion NA 0 PE1 NX_P50219 40569 401 7.27 7 Cytosol;Nucleolus;Nucleus Currarino syndrome 0 PE1 NX_P50221 27997 254 7.79 17 Mitochondrion;Cytoplasm;Nucleolus;Nucleus Klippel-Feil syndrome 2, autosomal recessive 0 PE1 NX_P50222 33594 304 7.87 7 Nucleus speckle;Nucleus NA 0 PE1 NX_P50225 34165 295 6.16 16 Cytoplasm NA 0 PE1 NX_P50226 34310 295 7.75 16 Cytoplasm NA 0 PE1 NX_P50238 8533 77 9.05 14 Cytosol;Nucleus speckle;Centrosome NA 0 PE1 NX_P50281 65894 582 7.63 14 Cytosol;Cytoplasm;Cytoskeleton;Melanosome;Membrane Winchester syndrome 1 PE1 NX_P50336 50765 477 8.43 1 Cytosol;Mitochondrion;Mitochondrion inner membrane Variegate porphyria 0 PE1 NX_P50391 42195 375 8.46 10 Cell membrane NA 7 PE2 NX_P50395 50663 445 6.11 10 Cytoplasm;Membrane NA 0 PE1 NX_P50402 28994 254 5.29 X Endoplasmic reticulum;Nucleus inner membrane;Nucleus envelope;Nucleus membrane;Nucleus outer membrane Emery-Dreifuss muscular dystrophy 1, X-linked 1 PE1 NX_P50406 46954 440 9.27 1 Cell membrane NA 7 PE1 NX_P50416 88368 773 8.85 11 Mitochondrion;Mitochondrion outer membrane Carnitine palmitoyltransferase 1A deficiency 2 PE1 NX_P50440 48455 423 8.26 15 Mitochondrion;Cytoplasm;Mitochondrion inner membrane Cerebral creatine deficiency syndrome 3 0 PE1 NX_P50443 81662 739 8.67 5 Cytoplasmic vesicle;Cell membrane Achondrogenesis 1B;Multiple epiphyseal dysplasia 4;Atelosteogenesis 2;Diastrophic dysplasia 8 PE1 NX_P50452 42767 374 5.41 18 Cytosol;Cytoplasm;Nucleus Peeling skin syndrome 5 0 PE1 NX_P50453 42404 376 5.61 6 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_P50454 46441 418 8.75 11 Endoplasmic reticulum lumen;Endoplasmic reticulum Osteogenesis imperfecta 10 0 PE1 NX_P50458 44373 406 8.81 9 Nucleoplasm;Nucleus NA 0 PE1 NX_P50461 20969 194 8.89 11 Sarcomere;Cytoplasm;Cytoskeleton;Nucleus;Z line Cardiomyopathy, familial hypertrophic 12;Cardiomyopathy, dilated 1M 0 PE1 NX_P50479 35398 330 8.07 5 Synaptosome;Cytosol;Cytoplasm;Early endosome membrane;Perinuclear region;Nucleus;Dendritic spine;Lamellipodium;Cytoskeleton;Recycling endosome membrane NA 0 PE1 NX_P50502 41332 369 5.18 22 Cytoplasm NA 0 PE1 NX_P50539 26062 228 6.57 10 Nucleolus;Nucleus Prostate cancer 0 PE1 NX_P50542 70865 639 4.43 12 Cytosol;Cytoplasm;Peroxisome membrane;Golgi apparatus Peroxisome biogenesis disorder 2A;Peroxisome biogenesis disorder 2B;Rhizomelic chondrodysplasia punctata 5 0 PE1 NX_P50548 58703 548 6.85 19 Nucleoplasm;Nucleus Chitayat syndrome;Craniosynostosis 4 0 PE1 NX_P50549 55131 477 5.7 7 Nucleoplasm;Nucleus Ewing sarcoma 0 PE1 NX_P50552 39830 380 9.05 19 Cytoplasm;Cell membrane;Focal adhesion;Lamellipodium membrane;Filopodium membrane;Cytoskeleton;Cell junction;Tight junction NA 0 PE1 NX_P50553 25454 236 8.93 12 Nucleus NA 0 PE1 NX_P50570 98064 870 7.04 19 Synapse;Phagocytic cup;Golgi apparatus;Cytosol;Cytoplasm;Clathrin-coated pit;Cell junction;Phagosome membrane;Postsynaptic density;Cytoskeleton;Midbody Lethal congenital contracture syndrome 5;Charcot-Marie-Tooth disease 2M;Charcot-Marie-Tooth disease, dominant, intermediate type, B;Myopathy, centronuclear, 1 0 PE1 NX_P50579 52892 478 5.57 12 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_P50583 16829 147 5.23 9 Nucleoplasm NA 0 PE1 NX_P50591 32509 281 7.01 3 Cytoskeleton;Cell membrane;Secreted NA 1 PE1 NX_P50607 55651 506 8.88 11 Nucleolus;Secreted;Cytoplasm;Cell membrane;Microtubule organizing center;Nucleus;Centrosome Retinal dystrophy and obesity 0 PE1 NX_P50613 39038 346 8.66 5 Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 NX_P50616 38155 345 6.45 17 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P50747 80760 726 5.4 21 Mitochondrion;Cytoplasm;Cytosol Holocarboxylase synthetase deficiency 0 PE1 NX_P50748 250749 2209 5.67 12 Kinetochore;Cytosol;Cytoplasm;Cell membrane;Nucleus;Spindle NA 0 PE1 NX_P50749 37790 326 8.93 20 Kinetochore;Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus NA 0 PE1 NX_P50750 42778 372 8.97 9 Nucleoplasm;PML body;Nucleus;Cytosol;Cytoplasm NA 0 PE1 NX_P50851 319108 2863 5.39 4 Golgi apparatus;Lysosome;Cytosol;Endoplasmic reticulum;Cell membrane;trans-Golgi network Immunodeficiency, common variable, 8, with autoimmunity 1 PE1 NX_P50876 32890 292 5.91 2 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Cell membrane NA 1 PE1 NX_P50895 67405 628 5.53 19 Nucleolus;Membrane NA 1 PE1 NX_P50897 34193 306 6.07 1 Secreted;Lysosome Ceroid lipofuscinosis, neuronal, 1 0 PE1 NX_P50914 23432 215 10.94 3 Cytoplasm NA 0 PE1 NX_P50990 59621 548 5.42 21 Cytosol;Cytoplasm;Nucleus;Cytoskeleton;Centrosome;Cilium basal body NA 0 PE1 NX_P50991 57924 539 7.96 2 Melanosome;Cytosol;Cytoplasm;Nucleoplasm;Centrosome;Cilium basal body NA 0 PE1 NX_P50993 112265 1020 5.47 1 Cell membrane;Membrane Alternating hemiplegia of childhood 1;Migraine, familial hemiplegic, 2 10 PE1 NX_P50995 54390 505 7.53 10 Melanosome;Nucleoplasm;Cytoplasm;Nucleus envelope;Cytosol;Spindle Amyotrophic lateral sclerosis 23 0 PE1 NX_P51003 82843 745 6.96 14 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P51114 69721 621 5.84 3 Cytosol;Cytoplasm NA 0 PE1 NX_P51116 74223 673 5.95 17 Cytosol;Cytoplasm NA 0 PE1 NX_P51124 27545 257 10.16 19 Cytoplasmic granule;Secreted NA 0 PE1 NX_P51148 23483 216 8.64 17 Endosome;Early endosome membrane;Melanosome;Cell membrane NA 0 PE1 NX_P51149 23490 207 6.39 3 Autophagosome membrane;Lysosome membrane;Lysosome;Lipid droplet;Endosome membrane;Late endosome membrane;Melanosome membrane;Phagosome membrane Charcot-Marie-Tooth disease 2B 0 PE1 NX_P51151 22838 201 5.26 X Endoplasmic reticulum membrane;Late endosome;Melanosome;Cytosol;Cell membrane;Nucleoplasm;Golgi apparatus membrane;Phagosome;Phagosome membrane;Cytoplasmic vesicle membrane NA 0 PE1 NX_P51153 22774 203 9.27 1 trans-Golgi network membrane;Cytosol;Cell membrane;Lamellipodium;Cytoplasmic vesicle membrane;Recycling endosome membrane;Tight junction NA 0 PE1 NX_P51157 24841 221 5.7 4 Cell membrane;Cilium basal body Cone-rod dystrophy 18 0 PE1 NX_P51159 24868 221 5.09 15 Lysosome;Melanosome;Late endosome;Membrane Griscelli syndrome 2 0 PE1 NX_P51160 99147 858 5.5 10 Cell membrane Achromatopsia 5;Cone dystrophy 4 0 PE1 NX_P51161 14371 128 6.29 5 Cytoplasm;Membrane NA 0 PE1 NX_P51164 33367 291 6.98 13 Cell membrane NA 1 PE1 NX_P51168 72659 640 5.89 16 Cytoplasmic vesicle membrane;Apical cell membrane Pseudohypoaldosteronism 1, autosomal recessive;Bronchiectasis with or without elevated sweat chloride 1;Liddle syndrome 2 PE1 NX_P51170 74270 649 7.47 16 Nucleoplasm;Apical cell membrane;Cell membrane Liddle syndrome;Bronchiectasis with or without elevated sweat chloride 3 2 PE1 NX_P51172 70215 638 8.06 1 Cytoskeleton;Cell membrane NA 2 PE1 NX_P51178 85665 756 6.23 3 Cytoskeleton Nail disorder, non-syndromic congenital, 3 0 PE1 NX_P51397 11165 102 9.3 5 Cytoplasm NA 0 PE1 NX_P51398 45566 398 9.02 1 Mitochondrion;Nucleoplasm NA 0 PE1 NX_P51449 58195 518 8.88 1 Nucleus Immunodeficiency 42 0 PE1 NX_P51451 57706 505 7.98 8 Nucleoplasm;Cell membrane Maturity-onset diabetes of the young 11 0 PE1 NX_P51452 20478 185 7.66 17 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_P51460 14502 131 9.18 19 Secreted Cryptorchidism 0 PE1 NX_P51504 31224 273 9.04 3 Nucleus NA 0 PE2 NX_P51508 75960 661 8.96 X Nucleus NA 0 PE1 NX_P51511 75807 669 7.03 16 Nucleoplasm;Cytosol;Cell membrane;Membrane NA 1 PE1 NX_P51512 69521 607 8.72 8 Cytosol;Cell surface;Cytoplasmic vesicle;Cell membrane;Extracellular matrix NA 1 PE1 NX_P51513 52056 510 8.93 14 Nucleolus;Nucleus NA 0 PE1 NX_P51522 59710 516 9.38 19 Nucleoplasm;Nucleus NA 0 PE1 NX_P51523 85457 738 9.05 12 Nucleoplasm;Nucleus NA 0 PE1 NX_P51530 120415 1060 7.95 10 Mitochondrion;Nucleus Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6;Seckel syndrome 8 0 PE1 NX_P51531 181279 1590 6.76 9 Nucleoplasm;Cytoplasmic vesicle;Cytoskeleton;Nucleus Schizophrenia;Nicolaides-Baraitser syndrome 0 PE1 NX_P51532 184646 1647 7.83 19 Nucleoplasm;Nucleus Coffin-Siris syndrome 4;Rhabdoid tumor predisposition syndrome 2 0 PE1 NX_P51553 42794 393 8.75 X Mitochondrion NA 0 PE1 NX_P51570 42272 392 6.04 17 Cytosol;Golgi apparatus Galactosemia II 0 PE1 NX_P51571 18999 173 5.76 X Endoplasmic reticulum membrane Congenital disorder of glycosylation 1Y 1 PE1 NX_P51572 27992 246 8.44 X Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum Deafness, dystonia, and cerebral hypomyelination 3 PE1 NX_P51575 44980 399 8.75 17 Membrane NA 2 PE1 NX_P51580 28180 245 5.85 6 Cytoplasm NA 0 PE1 NX_P51582 40963 365 8.92 X Cell membrane NA 7 PE1 NX_P51587 384202 3418 6.29 13 Nucleoplasm;Cytosol;Nucleus;Centrosome Glioma 3;Pancreatic cancer 2;Breast cancer;Fanconi anemia complementation group D1;Breast-ovarian cancer, familial, 2 0 PE1 NX_P51589 57611 502 8.76 1 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_P51606 48831 427 5.95 X Cytoplasm;Nucleus NA 0 PE1 NX_P51608 52441 486 9.95 X Nucleus Mental retardation, X-linked, syndromic, 13;Encephalopathy, neonatal severe, due to MECP2 mutations;Angelman syndrome;Autism, X-linked 3;Mental retardation, X-linked, syndromic, Lubs type;Rett syndrome 0 PE1 NX_P51610 208732 2035 7.32 X Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus Mental retardation, X-linked 3 0 PE1 NX_P51617 76537 712 6.18 X Mitochondrion;Cytoplasm;Lipid droplet;Nucleus;Cytosol NA 0 PE1 NX_P51636 18291 162 5.06 7 Golgi apparatus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Caveola;Golgi apparatus membrane NA 0 PE1 NX_P51648 54848 485 7.98 17 Endoplasmic reticulum membrane;Microsome membrane Sjoegren-Larsson syndrome 1 PE1 NX_P51649 57215 535 8.62 6 Mitochondrion Succinic semialdehyde dehydrogenase deficiency 0 PE1 NX_P51654 65563 580 5.96 X Cell membrane Simpson-Golabi-Behmel syndrome 1 0 PE1 NX_P51659 79686 736 8.96 5 Peroxisome D-bifunctional protein deficiency;Perrault syndrome 1 0 PE1 NX_P51665 37025 324 6.29 16 Nucleoplasm NA 0 PE1 NX_P51668 16602 147 6.94 10 Cytoplasm NA 0 PE1 NX_P51671 10732 97 9.98 17 Secreted NA 0 PE1 NX_P51674 31210 278 5.17 4 Axon;Filopodium;Dendritic spine;Cell membrane NA 4 PE1 NX_P51677 41044 355 8.49 3 Cell membrane NA 7 PE1 NX_P51679 41403 360 7.47 3 Cell membrane NA 7 PE1 NX_P51681 40524 352 9.21 3 Cell membrane Diabetes mellitus, insulin-dependent, 22 7 PE1 NX_P51684 42494 374 9.23 6 Cell surface;Cell membrane NA 7 PE1 NX_P51685 40844 355 8.66 3 Cell membrane NA 7 PE1 NX_P51686 42016 369 8.54 3 Cell membrane NA 7 PE1 NX_P51687 60283 545 5.72 12 Mitochondrion intermembrane space Sulfite oxidase deficiency, isolated 0 PE1 NX_P51688 56695 502 6.46 17 Lysosome Mucopolysaccharidosis 3A 0 PE1 NX_P51689 64860 593 6.78 X Cytoplasmic vesicle;Lipid droplet;Lysosome NA 0 PE1 NX_P51690 65669 589 6.48 X Golgi stack;Golgi apparatus Chondrodysplasia punctata 1, X-linked recessive 0 PE1 NX_P51692 89866 787 5.71 17 Cytoplasm;Nucleus Growth hormone insensitivity with immunodeficiency 0 PE1 NX_P51693 72176 650 5.54 19 Cytoplasm;Cell membrane NA 1 PE1 NX_P51784 109817 963 5.28 X Nucleoplasm;Cytoplasm;Nucleus;Chromosome NA 0 PE1 NX_P51786 58291 506 8.83 X Nucleus NA 0 PE1 NX_P51787 74699 676 9.88 11 Basolateral cell membrane;Cell membrane;Endoplasmic reticulum;Early endosome;Cytoplasmic vesicle membrane;Membrane raft Jervell and Lange-Nielsen syndrome 1;Short QT syndrome 2;Atrial fibrillation, familial, 3;Long QT syndrome 1;Diabetes mellitus, non-insulin-dependent 6 PE1 NX_P51788 98535 898 8.7 3 Cytosol;Cell membrane Epilepsy, idiopathic generalized 11;Juvenile myoclonic epilepsy 8;Juvenile absence epilepsy 2;Leukoencephalopathy with ataxia 10 PE1 NX_P51790 90966 818 5.88 4 Cytosol;Early endosome membrane;Endoplasmic reticulum;Late endosome membrane;Golgi apparatus membrane;Secretory vesicle membrane NA 10 PE1 NX_P51793 84917 760 6.43 X Endoplasmic reticulum membrane;Cytoplasmic vesicle;Early endosome membrane;Late endosome membrane Mental retardation, X-linked 49 10 PE1 NX_P51795 83147 746 6.37 X Endosome membrane;Cytosol;Golgi apparatus membrane;Golgi apparatus;Cell membrane Nephrolithiasis 1;Nephrolithiasis 2;Hypophosphatemic rickets, X-linked recessive;Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis 10 PE1 NX_P51797 97289 869 6.39 1 Cytosol;Endosome membrane;Cell membrane NA 10 PE1 NX_P51798 88679 805 8.66 16 Nucleoplasm;Lysosome membrane Osteopetrosis, autosomal recessive 2;Osteopetrosis, autosomal recessive 4;Osteopetrosis, autosomal dominant 2 10 PE1 NX_P51800 75285 687 7.62 1 Membrane Bartter syndrome 4B, neonatal, with sensorineural deafness 10 PE1 NX_P51801 75446 687 8.2 1 Cell membrane Bartter syndrome 3;Bartter syndrome 4B, neonatal, with sensorineural deafness 11 PE1 NX_P51805 207703 1871 7.06 X Cytoplasmic vesicle;Cell junction;Cell membrane NA 1 PE1 NX_P51808 13062 116 5.37 X Kinetochore;Cytoskeleton;Nucleus NA 0 PE1 NX_P51809 24935 220 8.86 X Endoplasmic reticulum membrane;Synaptosome;Lysosome membrane;trans-Golgi network membrane;Cytoplasmic vesicle;Late endosome membrane;Phagosome membrane;Secretory vesicle membrane NA 1 PE1 NX_P51810 43878 404 7.53 X Lysosome membrane;Apical cell membrane;Melanosome membrane Albinism ocular 1;Nystagmus congenital X-linked 6 7 PE1 NX_P51811 50902 444 8.6 X Mitochondrion;Nucleoplasm;Cytoplasmic vesicle;Membrane McLeod syndrome 10 PE1 NX_P51812 83736 740 6.41 X Cytosol;Cytoplasm;Nucleolus;Nucleus Mental retardation, X-linked 19;Coffin-Lowry syndrome 0 PE1 NX_P51813 78011 675 8.7 X Nucleoplasm;Cytoplasm;Cell membrane NA 0 PE1 NX_P51814 93728 821 9.06 X Nucleoplasm;Nucleus NA 0 PE1 NX_P51815 59298 510 9.35 X Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE2 NX_P51816 144771 1311 8.23 X Nucleus speckle Mental retardation, X-linked, associated with fragile site FRAXE 0 PE1 NX_P51817 40896 358 6.37 X Cytoplasm;Nucleus NA 0 PE1 NX_P51825 131422 1210 9.26 4 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 NX_P51826 133503 1226 8.35 2 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_P51828 120308 1080 8.49 16 Cytosol;Membrane NA 12 PE1 NX_P51841 124850 1108 6.87 X Membrane NA 1 PE1 NX_P51843 51718 470 8.47 X Cytoplasmic vesicle;Nucleus speckle;Cytoplasm;Nucleus;Microtubule organizing center 46,XY sex reversal 2;Adrenal hypoplasia, congenital 0 PE1 NX_P51854 65333 596 5.56 X Cytoplasm;Nucleus NA 0 PE1 NX_P51857 37377 326 7.14 7 Nucleoplasm;Cytosol;Cytoplasm Congenital bile acid synthesis defect 2 0 PE1 NX_P51858 26788 240 4.7 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P51861 31279 262 4.35 X Nucleoplasm;Centrosome;Golgi apparatus NA 0 PE1 NX_P51864 21181 188 8.2 X Cell membrane NA 0 PE5 NX_P51878 49736 434 9.28 11 NA NA 0 PE1 NX_P51884 38429 338 6.16 12 Extracellular matrix NA 0 PE1 NX_P51888 43810 382 9.47 1 Extracellular matrix NA 0 PE1 NX_P51911 33170 297 9.14 19 Cytoskeleton NA 0 PE1 NX_P51946 37643 323 6.73 5 Nucleoplasm;Nucleus NA 0 PE1 NX_P51948 35823 309 5.79 14 Nucleoplasm;Nucleus NA 0 PE1 NX_P51955 51763 445 9.03 1 Kinetochore;Nucleolus;Cytoplasm;Spindle pole;Nucleus;Centromere;Centrosome Retinitis pigmentosa 67 0 PE1 NX_P51956 57705 506 6.72 13 Axon;Cytoplasm;Cytoskeleton NA 0 PE1 NX_P51957 94597 841 8.04 3 Cytosol;Cytoplasm;Cilium NA 0 PE1 NX_P51959 34074 295 9.06 5 Nucleoplasm;Nucleus NA 0 PE1 NX_P51965 21404 193 8.77 3 Nucleoplasm;Nucleus NA 0 PE1 NX_P51970 20105 172 7.58 9 Mitochondrion;Mitochondrion inner membrane;Mitochondrion intermembrane space NA 0 PE1 NX_P51991 39595 378 9.1 2 Nucleus NA 0 PE1 NX_P51993 41860 359 8.92 19 Golgi stack membrane;Golgi apparatus NA 1 PE1 NX_P52179 187627 1685 6.5 18 M line NA 0 PE1 NX_P52198 25369 227 8.66 17 Acrosome membrane NA 0 PE1 NX_P52209 53140 483 6.8 1 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 NX_P52272 77516 730 8.84 19 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P52292 57862 529 5.25 17 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_P52294 60222 538 4.94 3 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P52298 18001 156 8.34 3 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P52306 66317 607 5.17 4 Cytosol NA 0 PE1 NX_P52333 125099 1124 6.77 19 Cytoplasm;Endomembrane system Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative 0 PE1 NX_P52429 63927 567 8.02 17 Cytosol;Cytoplasm;Nucleus;Membrane Hemolytic uremic syndrome atypical 7;Nephrotic syndrome 7 2 PE1 NX_P52434 17143 150 4.5 3 Nucleolus;Nucleus NA 0 PE1 NX_P52435 13293 117 5.63 7 Nucleus NA 0 PE1 NX_P52564 37492 334 7.01 17 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_P52565 23207 204 5.03 17 Cytosol;Cytoplasm Nephrotic syndrome 8 0 PE1 NX_P52566 22988 201 5.1 12 Cytosol NA 0 PE1 NX_P52569 71673 658 7.01 8 Cell junction;Cell membrane NA 14 PE1 NX_P52594 58260 562 8.82 2 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P52597 45672 415 5.38 10 Nucleoplasm NA 0 PE1 NX_P52630 97916 851 5.34 12 Cytosol;Cytoplasm;Nucleus;Cell membrane Immunodeficiency 44 0 PE1 NX_P52655 41514 376 4.4 14 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_P52657 12457 109 6.26 15 Nucleoplasm;Nucleus NA 0 PE1 NX_P52701 152786 1360 6.5 2 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Golgi apparatus;Chromosome Endometrial cancer;Hereditary non-polyposis colorectal cancer 5;Colorectal cancer;Mismatch repair cancer syndrome 0 PE1 NX_P52732 119159 1056 5.47 10 Cytosol;Cytoplasm;Spindle;Spindle pole Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 0 PE1 NX_P52735 101289 878 6.67 9 Cytoplasmic vesicle NA 0 PE1 NX_P52736 73388 654 9.26 20 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P52737 62784 540 9.32 19 Nucleolus;Nucleus NA 0 PE1 NX_P52738 52996 457 8.95 12 Nucleus NA 0 PE1 NX_P52739 71422 623 5.1 5 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_P52740 80623 706 8.77 19 Cytoplasmic vesicle;Cytoskeleton;Nucleus NA 0 PE1 NX_P52741 48480 427 8.96 19 Nucleoplasm;Nucleus NA 0 PE1 NX_P52742 75261 658 8.49 19 Cytosol;Nucleus NA 0 PE1 NX_P52743 24115 207 9.77 19 Nucleus NA 0 PE5 NX_P52744 30592 262 9.63 7 Cytosol;Nucleus NA 0 PE1 NX_P52746 187880 1687 8.24 2 Nucleolus;Nucleus NA 0 PE1 NX_P52747 68896 638 5.64 11 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P52756 92154 815 5.94 3 Nucleoplasm;Nucleus NA 0 PE1 NX_P52757 53924 468 7.04 7 Nucleus;Membrane NA 0 PE1 NX_P52758 14494 137 8.73 8 Mitochondrion;Cytoplasm;Nucleus;Peroxisome NA 0 PE1 NX_P52788 41268 366 4.87 X Cytosol;Cytoplasm;Nucleus X-linked syndromic mental retardation Snyder-Robinson type 0 PE1 NX_P52789 102380 917 5.71 2 Mitochondrion;Mitochondrion outer membrane NA 0 PE1 NX_P52790 99025 923 5.23 5 NA NA 0 PE1 NX_P52797 26350 238 8.85 1 Cell membrane NA 0 PE1 NX_P52798 22386 201 6.89 1 Cytoplasmic vesicle;Nucleus;Cell membrane;Secreted NA 0 PE1 NX_P52799 36923 333 9.04 13 Cytosol;Nucleoplasm;Cell membrane NA 1 PE1 NX_P52803 26297 228 5.97 5 Caveola;Cytoplasmic vesicle;Cytosol;Cell membrane NA 0 PE1 NX_P52815 21348 198 9.05 17 Mitochondrion NA 0 PE1 NX_P52823 27621 247 8.28 8 Secreted NA 0 PE1 NX_P52824 101155 942 7.35 4 Nucleus speckle;Cytoskeleton;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 NX_P52848 100868 882 8.07 5 Golgi apparatus membrane Mental retardation, autosomal recessive 46 1 PE1 NX_P52849 100875 883 8.81 10 Cytosol;Golgi apparatus membrane NA 1 PE1 NX_P52888 78840 689 5.72 19 Cytosol;Cytoplasm NA 0 PE1 NX_P52895 36735 323 7.13 10 Cytoplasm 46,XY sex reversal 8 0 PE1 NX_P52907 32923 286 5.45 1 Cytoplasm;Cytoskeleton NA 0 PE1 NX_P52926 11832 109 10.63 12 Nucleolus;Nucleus NA 0 PE1 NX_P52943 22493 208 9.01 14 Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_P52945 30771 283 7.1 13 Nucleoplasm;Cytosol;Nucleus Maturity-onset diabetes of the young 4;Pancreatic agenesis 1;Diabetes mellitus, non-insulin-dependent 0 PE1 NX_P52948 197579 1817 5.97 11 Cytoplasmic vesicle;Nucleoplasm;Nuclear pore complex;Nucleus membrane NA 0 PE1 NX_P52951 37348 348 8.43 2 Nucleoplasm;Nucleus NA 0 PE1 NX_P52952 34918 324 9.46 5 Cytosol;Nucleoplasm;Nucleus Conotruncal heart malformations;Ventricular septal defect 3;Atrial septal defect 7, with or without atrioventricular conduction defects;Hypoplastic left heart syndrome 2;Tetralogy of Fallot;Hypothyroidism, congenital, non-goitrous, 5 0 PE1 NX_P52954 30221 281 6.47 10 Nucleoplasm;Nucleus NA 0 PE1 NX_P52961 36335 327 8.53 11 Sarcoplasmic reticulum membrane NA 0 PE2 NX_P53004 33428 296 6.06 7 Cytosol;Cytoplasm Hyperbiliverdinemia 0 PE1 NX_P53007 34013 311 9.91 22 Mitochondrion inner membrane Combined D-2- and L-2-hydroxyglutaric aciduria 6 PE1 NX_P53041 56879 499 5.88 19 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Cell membrane NA 0 PE1 NX_P53350 68255 603 9.09 16 Kinetochore;Spindle;Nucleus;Centrosome;Midbody NA 0 PE1 NX_P53355 160046 1430 6.37 9 Cytoplasm;Cytoskeleton;Centrosome NA 0 PE1 NX_P53365 37856 341 5.72 11 Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 NX_P53367 41738 373 6.24 4 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 NX_P53370 35679 316 8.15 4 Mitochondrion;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_P53384 34534 320 5.15 16 Cytosol;Cytoplasm;Microtubule organizing center;Centriole;Nucleus;Cilium axoneme;Cell projection;Centrosome;Cilium basal body NA 0 PE1 NX_P53396 120839 1101 6.95 17 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm NA 0 PE1 NX_P53420 164038 1690 8.9 2 Basement membrane Hematuria, benign familial;Alport syndrome, autosomal recessive 0 PE1 NX_P53539 35928 338 4.78 19 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P53567 16408 150 9.77 19 Nucleoplasm;Nucleus NA 0 PE1 NX_P53582 43215 386 6.75 4 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm NA 0 PE1 NX_P53597 36250 346 9.01 2 Mitochondrion;Cell membrane Mitochondrial DNA depletion syndrome 9 0 PE1 NX_P53602 43405 400 6.8 16 Cytosol;Cell junction Porokeratosis 7, multiple types 0 PE1 NX_P53609 42368 377 6.37 5 Nucleoplasm;Cytosol;Endoplasmic reticulum NA 0 PE1 NX_P53611 36924 331 4.89 1 Cytoplasmic vesicle NA 0 PE1 NX_P53618 107142 953 5.72 11 Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;COPI-coated vesicle membrane;Golgi apparatus membrane NA 0 PE1 NX_P53621 138346 1224 7.7 1 Cytosol;Golgi apparatus;Secreted;COPI-coated vesicle membrane;Cytoplasm;Nucleoplasm;Golgi apparatus membrane Autoimmune interstitial lung, joint, and kidney disease 0 PE1 NX_P53634 51854 463 6.53 11 Cytoplasmic vesicle;Endoplasmic reticulum;Lysosome Papillon-Lefevre syndrome;Haim-Munk syndrome;Periodontititis, aggressive, 1 0 PE1 NX_P53667 72585 647 6.53 7 Cytosol;Nucleus speckle;Lamellipodium;Nucleus;Cytoplasm NA 0 PE1 NX_P53671 72232 638 6.83 22 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Nucleoplasm NA 0 PE1 NX_P53672 22096 197 5.94 2 NA Cataract 42 0 PE1 NX_P53673 22374 196 5.83 22 NA Cataract 23, multiple types 0 PE1 NX_P53674 28023 252 8.59 22 NA Cataract 17, multiple types 0 PE1 NX_P53675 187030 1640 5.57 22 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Coated pit NA 0 PE1 NX_P53677 46977 418 7.15 8 Cytoplasmic vesicle membrane;Golgi apparatus NA 0 PE1 NX_P53680 17018 142 5.82 19 Coated pit;Cell membrane Hypocalciuric hypercalcemia, familial 3 0 PE1 NX_P53701 30602 268 6.25 X Mitochondrion;Mitochondrion inner membrane;Membrane Linear skin defects with multiple congenital anomalies 1 0 PE1 NX_P53708 117474 1063 5.37 10 Cell membrane;Membrane Renal hypodysplasia/aplasia 1 1 PE1 NX_P53778 41940 367 5.98 22 Mitochondrion;Cytoplasm;Nucleus;Cytosol;Nucleus speckle NA 0 PE1 NX_P53779 52585 464 6.33 4 Mitochondrion;Cytoplasm;Nucleus;Membrane NA 0 PE1 NX_P53794 79694 718 7.01 21 Cytosol;Cell membrane;Membrane NA 12 PE1 NX_P53801 20324 180 9.14 21 Golgi apparatus;Nucleus membrane;Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;Membrane NA 1 PE1 NX_P53803 7004 58 9.27 8 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_P53804 229869 2025 7.53 21 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P53805 28079 252 5.09 21 Cytosol NA 0 PE1 NX_P53814 99059 917 9.2 22 Nucleoplasm;Cytoskeleton NA 0 PE1 NX_P53816 17937 162 7.76 11 Cytoplasm;Perinuclear region;Peroxisome membrane;Membrane NA 1 PE1 NX_P53985 53944 500 8.91 1 Cell junction;Cell membrane Symptomatic deficiency in lactate transport;Familial hyperinsulinemic hypoglycemia 7;Monocarboxylate transporter 1 deficiency 12 PE1 NX_P53990 39751 364 5.22 16 Cytoplasmic vesicle;Centrosome;Nucleus envelope;Midbody NA 0 PE1 NX_P53992 118325 1094 6.71 10 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Golgi apparatus;Cytosol;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 NX_P53999 14395 127 9.6 5 Nucleolus;Nucleus NA 0 PE1 NX_P54098 139562 1239 6.46 15 Mitochondrion nucleoid;Mitochondrion Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1;Spinocerebellar ataxia with epilepsy;Leigh syndrome;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1;Mitochondrial DNA depletion syndrome 4B;Mitochondrial DNA depletion syndrome 4A;Sensory ataxic neuropathy dysarthria and ophthalmoparesis 0 PE1 NX_P54105 26215 237 3.97 11 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 NX_P54107 28481 249 5.57 6 NA NA 0 PE1 NX_P54108 27630 245 8.09 6 Secreted NA 0 PE1 NX_P54132 159000 1417 7.33 15 Cytosol;Nucleus Bloom syndrome 0 PE1 NX_P54136 75379 660 6.26 5 Nucleoplasm;Cytoplasm;Cytosol Leukodystrophy, hypomyelinating, 9 0 PE1 NX_P54198 111835 1017 8.4 22 Nucleoplasm;PML body;Nucleus NA 0 PE1 NX_P54219 56257 525 5.6 8 Endoplasmic reticulum membrane;Synaptic vesicle membrane;Cytoplasmic vesicle membrane NA 12 PE1 NX_P54252 41250 361 4.69 14 Nucleus;Nucleolus;Nucleus matrix;Cell membrane Spinocerebellar ataxia 3 0 PE1 NX_P54253 86923 815 8.49 6 Cytosol;Cytoplasm;Nucleolus;Nucleus Spinocerebellar ataxia 1 0 PE1 NX_P54257 75506 671 4.68 17 Lysosome;Cytoplasm;Endoplasmic reticulum;Axon;Nucleus;Autophagosome;Mitochondrion;Cytoskeleton;Synaptic vesicle NA 0 PE1 NX_P54259 125414 1190 9.01 12 Nucleoplasm;Perinuclear region;Nucleus;Cell junction Dentatorubral-pallidoluysian atrophy 0 PE1 NX_P54274 50246 439 5.99 8 Spindle;Nucleolus;Nucleus;Telomere NA 0 PE1 NX_P54277 105830 932 6.23 2 Nucleoplasm;Nucleus NA 0 PE1 NX_P54278 95797 862 6.4 7 Nucleus Hereditary non-polyposis colorectal cancer 4;Mismatch repair cancer syndrome 0 PE1 NX_P54284 54532 484 5.93 12 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus NA 0 PE1 NX_P54289 124568 1103 5.12 7 Cytoplasm;Membrane NA 1 PE1 NX_P54296 164896 1465 5.82 8 Mitochondrion;M line NA 0 PE1 NX_P54315 51848 467 5.47 10 Secreted NA 0 PE1 NX_P54317 51961 469 5.27 10 Secreted NA 0 PE1 NX_P54368 25406 228 7.12 19 Cytoplasmic vesicle;Microtubule organizing center NA 0 PE1 NX_P54577 59143 528 6.61 1 Cytosol;Cytoplasm Charcot-Marie-Tooth disease, dominant, intermediate type, C 0 PE1 NX_P54578 56069 494 5.2 18 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_P54619 37579 331 6.42 12 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_P54646 62320 552 7.65 1 Cytoplasm;Nucleus;Golgi apparatus;Nucleus speckle NA 0 PE1 NX_P54652 70021 639 5.56 14 Spindle NA 0 PE1 NX_P54687 42966 386 5.17 12 Cytoplasm NA 0 PE1 NX_P54707 115511 1039 6.12 13 Membrane NA 10 PE1 NX_P54709 31513 279 8.58 3 Melanosome;Cell membrane NA 1 PE1 NX_P54710 7283 66 7.88 11 Mitochondrion;Membrane Hypomagnesemia 2 1 PE1 NX_P54725 39609 363 4.56 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_P54727 43171 409 4.79 9 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_P54750 61252 535 5.72 2 Nucleoplasm;Cytoplasm NA 0 PE1 NX_P54753 110330 998 5.95 3 Dendrite;Cell membrane NA 1 PE1 NX_P54756 114803 1037 6.53 4 Axon;Dendrite;Cell membrane;Endoplasmic reticulum NA 1 PE1 NX_P54760 108270 987 6.48 7 Cell membrane Hydrops fetalis, non-immune, and/or atrial septal defect 1 PE1 NX_P54762 109885 984 6.03 3 Cytosol;Dendrite;Early endosome membrane;Endoplasmic reticulum;Cell membrane NA 1 PE1 NX_P54764 109860 986 6.21 2 Axon;Postsynaptic density;Dendrite;Cell membrane;Early endosome NA 1 PE1 NX_P54792 73254 670 6.02 22 Cytoplasm NA 0 PE5 NX_P54793 65940 590 6.78 X Cytosol;Secreted NA 0 PE1 NX_P54802 82266 743 6.2 17 Lysosome Charcot-Marie-Tooth disease 2V;Mucopolysaccharidosis 3B 0 PE1 NX_P54803 77063 685 6.17 14 Lysosome Leukodystrophy, globoid cell 0 PE1 NX_P54819 26478 239 7.67 1 Mitochondrion intermembrane space Reticular dysgenesis 0 PE1 NX_P54821 27296 245 9.48 1 Nucleoplasm;Nucleus Agnathia-otocephaly complex 0 PE1 NX_P54826 35693 345 5.35 9 Nucleus speckle;Cell membrane NA 0 PE1 NX_P54829 63538 565 4.82 11 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 2 PE1 NX_P54840 80989 703 6.35 12 NA Glycogen storage disease 0 0 PE1 NX_P54845 25940 237 7.73 14 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Retinal degeneration autosomal recessive clumped pigment type;Retinitis pigmentosa 27 0 PE1 NX_P54849 17563 157 8.18 12 Nucleoplasm;Membrane NA 4 PE1 NX_P54851 19199 167 7.55 16 Apical cell membrane;Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Golgi apparatus membrane;Membrane raft Nephrotic syndrome 10 4 PE1 NX_P54852 18429 163 8.18 19 Golgi apparatus;Cell membrane;Membrane NA 4 PE1 NX_P54855 61036 530 8.98 4 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_P54868 56635 508 8.4 1 Mitochondrion 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency 0 PE1 NX_P54886 87302 795 6.66 10 Mitochondrion;Mitochondrion inner membrane Cutis laxa, autosomal recessive, 3A;Cutis laxa, autosomal dominant, 3;Spastic paraplegia 9B, autosomal recessive;Spastic paraplegia 9A, autosomal dominant 0 PE1 NX_P54920 33233 295 5.23 19 Cell membrane NA 0 PE1 NX_P54922 39507 357 6.05 3 Nucleus;Nucleus membrane NA 0 PE1 NX_P55000 11186 103 5.21 8 Secreted Mal de Meleda 0 PE1 NX_P55001 20826 183 4.86 1 Extracellular matrix NA 0 PE1 NX_P55008 16703 147 5.97 6 Cytosol;Cytoskeleton;Phagocytic cup;Ruffle membrane NA 0 PE1 NX_P55010 49223 431 5.41 14 Cytosol;Cell membrane NA 0 PE1 NX_P55011 131447 1212 5.98 5 Cytoplasmic vesicle;Cell membrane;Membrane NA 12 PE1 NX_P55017 113139 1021 8.1 16 Cell membrane Gitelman syndrome 12 PE1 NX_P55036 40737 377 4.68 1 NA NA 0 PE1 NX_P55039 40746 364 9.02 17 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_P55040 33949 296 8.77 8 Cell membrane NA 0 PE1 NX_P55042 33245 308 9.06 16 Nucleoplasm;Cell membrane;Golgi apparatus NA 0 PE1 NX_P55055 50974 460 7.9 19 Nucleoplasm;Nucleus NA 0 PE1 NX_P55056 14553 127 9.19 19 Secreted NA 0 PE1 NX_P55058 54739 493 6.53 20 Secreted NA 0 PE1 NX_P55060 110417 971 5.51 20 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_P55061 26538 237 8.79 12 Endoplasmic reticulum membrane NA 6 PE1 NX_P55064 28292 265 8.82 12 Apical cell membrane;Cell membrane Keratoderma, palmoplantar, Bothnian type 6 PE1 NX_P55072 89322 806 5.14 9 Cytosol;Nucleoplasm;Stress granule;Nucleus;Endoplasmic reticulum Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1;Charcot-Marie-Tooth disease 2Y;Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 0 PE1 NX_P55073 33947 304 6.25 14 Endosome membrane;Cell membrane NA 1 PE1 NX_P55075 26525 233 10.44 10 Secreted Hypogonadotropic hypogonadism 6 with or without anosmia 0 PE1 NX_P55081 51958 439 4.95 15 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_P55082 40165 362 4.87 5 Nucleoplasm;Golgi apparatus;Cell membrane NA 1 PE1 NX_P55083 28648 255 5.38 17 Endoplasmic reticulum;Extracellular matrix NA 0 PE1 NX_P55084 51294 474 9.45 2 Mitochondrion;Mitochondrion inner membrane;Endoplasmic reticulum;Mitochondrion outer membrane Mitochondrial trifunctional protein deficiency 0 PE1 NX_P55085 44126 397 9.66 5 Cell membrane NA 7 PE1 NX_P55087 34830 323 7.59 18 Cell junction;Cell membrane;Membrane NA 6 PE1 NX_P55089 13458 124 11.7 2 Endoplasmic reticulum;Secreted NA 0 PE1 NX_P55103 38238 352 6.66 12 Secreted NA 0 PE1 NX_P55107 53122 478 9.58 10 Secreted NA 0 PE1 NX_P55145 20700 182 8.94 3 Sarcoplasmic reticulum lumen;Endoplasmic reticulum lumen;Endoplasmic reticulum;Secreted NA 0 PE1 NX_P55157 99351 894 8.61 4 Cytosol;Endoplasmic reticulum Abetalipoproteinemia 0 PE1 NX_P55160 128153 1127 6.39 12 Cytosol;Cytoplasm;Cell membrane NA 1 PE1 NX_P55196 206804 1824 6.06 6 Nucleoplasm;Cytoplasm;Cell junction;Cell membrane;Adherens junction NA 0 PE1 NX_P55197 113320 1068 8.49 10 Nucleoplasm;Nucleus NA 0 PE1 NX_P55198 112048 1093 8.93 17 Nucleus NA 0 PE1 NX_P55199 68265 621 9.43 19 Nucleus speckle;Nucleus;Cajal body NA 0 PE1 NX_P55201 137499 1214 8.16 3 Cytosol;Cytoplasm;Nucleus;Cell membrane Intellectual developmental disorder with dysmorphic facies and ptosis 0 PE1 NX_P55209 45374 391 4.36 12 Cytoplasm;Cytoskeleton;Nucleus;Melanosome NA 0 PE1 NX_P55210 34277 303 5.72 10 Cytoplasm NA 0 PE1 NX_P55211 46281 416 5.73 1 Mitochondrion NA 0 PE1 NX_P55212 33310 293 6.46 4 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P55259 59480 537 5.08 16 Cell membrane;Secreted NA 0 PE1 NX_P55263 40545 362 6.24 10 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Hypermethioninemia due to adenosine kinase deficiency 0 PE1 NX_P55265 136066 1226 8.86 1 Cytoplasm;Nucleolus;Nucleus Aicardi-Goutieres syndrome 6;Dyschromatosis symmetrica hereditaria 0 PE1 NX_P55268 195981 1798 6.07 3 Cytosol;Cytoplasmic vesicle;Basement membrane Pierson syndrome;Nephrotic syndrome 5 with or without ocular abnormalities 0 PE1 NX_P55273 17700 166 5.69 19 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_P55283 100281 916 4.65 20 Cell membrane NA 1 PE1 NX_P55285 88309 790 4.77 5 Cell membrane NA 1 PE1 NX_P55286 88253 799 4.55 16 Cell membrane NA 1 PE1 NX_P55287 87965 796 4.75 16 Cell membrane Elsahy-Waters syndrome 1 PE1 NX_P55289 88332 794 4.64 5 Cytoplasmic vesicle;Cell membrane NA 1 PE1 NX_P55290 78287 713 4.8 16 Cell membrane NA 0 PE1 NX_P55291 88916 814 4.81 16 Cytosol;Golgi apparatus;Cell membrane Mental retardation, autosomal dominant 3 1 PE1 NX_P55316 52352 489 8.99 14 Nucleus Rett syndrome congenital variant 0 PE1 NX_P55317 49148 472 8.93 14 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P55318 37140 350 7.01 19 Nucleoplasm;Nucleus NA 0 PE1 NX_P55327 24327 224 4.79 8 Cytosol;Golgi apparatus NA 0 PE1 NX_P55344 19674 173 9.64 19 Membrane Cataract, multiple types 19 4 PE1 NX_P55345 49042 433 5.03 21 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;Cytosol NA 0 PE1 NX_P55347 47607 436 4.79 21 Nucleoplasm;Nucleus NA 0 PE1 NX_P55735 35541 322 5.22 3 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Lysosome membrane;Nucleoplasm;Cytoplasm;Nuclear pore complex;Endoplasmic reticulum;Cytoplasmic vesicle NA 0 PE1 NX_P55769 14174 128 8.72 22 Nucleolus;Nucleus NA 0 PE1 NX_P55771 36310 341 9.39 14 Nucleoplasm;Mitochondrion;Nucleus Tooth agenesis, selective, 3 0 PE1 NX_P55773 13411 120 9.21 17 Secreted NA 0 PE1 NX_P55774 9849 89 9.06 17 Secreted NA 0 PE1 NX_P55786 103276 919 5.49 17 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P55789 23449 205 7.57 16 Mitochondrion;Cytoplasm;Mitochondrion intermembrane space;Cytosol;Secreted Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay 0 PE1 NX_P55795 49264 449 5.89 X Nucleoplasm Mental retardation, X-linked, syndromic, Bain type 0 PE1 NX_P55808 19723 180 6.95 X Cell membrane NA 1 PE1 NX_P55809 56158 520 7.13 5 Mitochondrion;Mitochondrion matrix Succinyl-CoA:3-oxoacid CoA transferase deficiency 0 PE1 NX_P55822 26086 239 4.09 21 Cytosol;Cell membrane NA 0 PE1 NX_P55851 33229 309 9.74 11 Mitochondrion;Mitochondrion inner membrane NA 6 PE1 NX_P55854 11637 103 5.32 21 PML body;Nucleus;Cytoplasm NA 0 PE1 NX_P55884 92482 814 4.89 7 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 NX_P55895 59241 527 5.56 11 Nucleoplasm;Nucleus Omenn syndrome;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive;Combined cellular and humoral immune defects with granulomas 0 PE1 NX_P55899 39743 365 6.09 19 Cell membrane NA 1 PE1 NX_P55916 34216 312 9.31 11 Cytosol;Nucleoplasm;Mitochondrion inner membrane;Cell membrane Obesity 6 PE1 NX_P55957 21995 195 5.27 22 Cytosol;Cytoplasm;Mitochondrion membrane;Mitochondrion outer membrane NA 0 PE1 NX_P56134 10918 94 9.7 7 Mitochondrion;Cytoplasm;Mitochondrion inner membrane NA 1 PE1 NX_P56159 51456 465 8.3 10 Nucleoplasm;Golgi apparatus;Cell membrane NA 0 PE1 NX_P56177 27320 255 9.71 2 Cytoplasmic vesicle;Nucleus;Cell junction NA 0 PE1 NX_P56178 31540 289 9.31 7 Nucleus Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 0 PE1 NX_P56179 19708 175 9.95 7 Nucleus NA 0 PE1 NX_P56180 64322 551 8.81 21 Membrane NA 3 PE1 NX_P56181 11941 108 9.72 21 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_P56182 52839 461 9.39 21 Nucleolus NA 0 PE1 NX_P56192 101116 900 5.82 12 Cytosol Charcot-Marie-Tooth disease 2U;Interstitial lung and liver disease 0 PE1 NX_P56199 130848 1179 5.91 5 Membrane NA 1 PE1 NX_P56202 42120 376 7.14 11 NA NA 0 PE1 NX_P56211 12323 112 9.07 15 Cytoplasm NA 0 PE1 NX_P56270 48608 477 9.21 16 Nucleus NA 0 PE1 NX_P56277 7747 68 8.5 X Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 NX_P56278 12600 107 5.07 X Nucleoplasm;Cell membrane NA 0 PE1 NX_P56279 13460 114 4.98 14 Cytoplasm;Nucleus;Microsome;Endoplasmic reticulum NA 0 PE1 NX_P56282 59537 527 5.95 14 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P56373 44289 397 7.88 11 Cell membrane NA 2 PE1 NX_P56377 18615 157 5.39 X Cytoplasmic vesicle membrane;Clathrin-coated pit;Golgi apparatus Pettigrew syndrome 0 PE1 NX_P56378 6662 58 10.08 14 Mitochondrion;Cytoplasm;Nucleolus;Mitochondrion membrane NA 1 PE1 NX_P56381 5780 51 9.93 20 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex V deficiency, nuclear type 3 0 PE1 NX_P56385 7933 69 9.34 4 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_P56470 35941 323 9.21 19 Cell membrane NA 0 PE1 NX_P56524 119040 1084 6.49 2 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Brachydactyly-mental retardation syndrome 0 PE1 NX_P56537 26599 245 4.56 20 Nucleoplasm;Cytoplasm;Nucleolus NA 0 PE1 NX_P56539 17259 151 5.5 3 Caveola;Cytoplasmic vesicle;Golgi apparatus membrane;Cell membrane;Sarcolemma Sudden infant death syndrome;Rippling muscle disease 2;Cardiomyopathy, familial hypertrophic;Limb-girdle muscular dystrophy 1C;Long QT syndrome 9;HyperCKmia;Myopathy, distal, Tateyama type 0 PE1 NX_P56545 48945 445 6.47 10 Cytosol;Synapse;Nucleus NA 0 PE1 NX_P56555 12955 118 7.76 21 NA NA 0 PE2 NX_P56556 15137 128 9.98 22 Mitochondrion inner membrane NA 0 PE1 NX_P56557 17936 158 5.23 21 Endoplasmic reticulum membrane;Nucleolus;Golgi apparatus membrane;Golgi apparatus NA 4 PE1 NX_P56559 21487 192 9.17 2 Cytosol;Cytoplasm;Filopodium;Cell membrane NA 0 PE1 NX_P56589 42140 373 8.37 6 Nucleoplasm;Peroxisome membrane;Peroxisome Peroxisome biogenesis disorder 10B;Peroxisome biogenesis disorder complementation group 12;Peroxisome biogenesis disorder 10A 2 PE1 NX_P56597 24236 212 5.89 5 Nucleoplasm;Nucleus NA 0 PE1 NX_P56645 131888 1201 6.44 1 Cytosol;Cytoplasm;Nucleus Advanced sleep phase syndrome, familial, 3 0 PE1 NX_P56693 49911 466 6.19 22 Nucleoplasm;Cytoplasm;Nucleus;Mitochondrion outer membrane Waardenburg syndrome 2E;Waardenburg syndrome 4C;Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease 0 PE1 NX_P56696 77101 695 9.6 1 Basal cell membrane Deafness, autosomal dominant, 2A 6 PE1 NX_P56703 39645 355 7.47 17 Extracellular matrix;Secreted Tetraamelia syndrome 1 0 PE1 NX_P56704 39365 352 8.52 1 Extracellular matrix;Secreted NA 0 PE1 NX_P56705 39052 351 8.92 1 Cytoplasmic vesicle;Extracellular matrix Mullerian aplasia and hyperandrogenism;46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs 0 PE1 NX_P56706 39327 349 9.11 22 Extracellular matrix;Secreted NA 0 PE1 NX_P56715 240661 2156 5.55 8 Photoreceptor outer segment;Cilium axoneme Retinitis pigmentosa 1 0 PE1 NX_P56730 97067 875 8.41 4 Cytoskeleton;Nucleus;Secreted Mental retardation, autosomal recessive 1 0 PE1 NX_P56746 24356 228 5.61 7 Cell membrane;Tight junction NA 4 PE1 NX_P56747 23292 220 8.32 16 Cell membrane;Tight junction NA 4 PE1 NX_P56748 24845 225 9 21 Tight junction;Cell membrane NA 4 PE1 NX_P56749 27110 244 8.8 7 Cell membrane;Tight junction NA 4 PE1 NX_P56750 24603 224 9.8 21 Tight junction;Cell membrane NA 4 PE1 NX_P56817 55764 501 5.31 11 Endosome;Late endosome;Recycling endosome;Lysosome;Endoplasmic reticulum;Cell membrane;trans-Golgi network;Early endosome;Cell surface;Cytoplasmic vesicle membrane;Membrane raft NA 1 PE1 NX_P56851 17584 147 6.51 14 Secreted NA 0 PE1 NX_P56856 27856 261 8.39 3 Cell membrane;Tight junction NA 4 PE1 NX_P56880 23515 219 6.98 6 Cell membrane;Tight junction NA 4 PE2 NX_P56915 28150 257 8.86 14 Nucleus Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 0 PE1 NX_P56937 38206 341 8.35 1 Cell membrane NA 1 PE1 NX_P56945 93372 870 5.41 16 Cytosol;Cytoplasm;Focal adhesion;Cell membrane NA 0 PE1 NX_P56962 33403 302 6.14 9 Endoplasmic reticulum membrane;Autophagosome membrane;COPII-coated vesicle membrane;Nucleolus;Cytosol;Smooth endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 2 PE1 NX_P56975 77901 720 7.79 10 Cytoplasmic vesicle;Cell membrane;Secreted NA 1 PE1 NX_P57052 32179 281 8.87 21 Nucleoplasm;Nucleus speckle NA 0 PE1 NX_P57053 13944 126 10.37 21 Nucleus;Chromosome NA 0 PE1 NX_P57054 18089 158 8.8 21 Cytoplasmic vesicle;Membrane Epileptic encephalopathy, early infantile, 55 2 PE1 NX_P57055 20368 190 5.98 21 Nucleus NA 0 PE2 NX_P57057 57648 533 8.61 21 Endoplasmic reticulum membrane NA 12 PE1 NX_P57058 79686 714 9.24 21 Nucleoplasm;Cell membrane NA 0 PE1 NX_P57059 84902 783 6.81 21 Cytosol;Cytoplasm;Nucleus Epileptic encephalopathy, early infantile, 30 0 PE1 NX_P57060 36332 319 5.61 21 NA NA 0 PE1 NX_P57071 169269 1507 8.59 21 Nucleoplasm;Nucleus NA 0 PE1 NX_P57073 47314 446 6.49 16 Nucleus NA 0 PE1 NX_P57075 74123 661 7.77 21 Nucleoplasm;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_P57076 33224 290 6.99 21 Cytoplasm;Cilium basal body Ciliary dyskinesia, primary, 26 0 PE1 NX_P57077 27248 242 4.81 21 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P57078 91611 832 6.69 21 Cytoplasm;Membrane Popliteal pterygium syndrome, lethal type 0 PE1 NX_P57081 45490 412 6.71 21 Cytosol;Nucleus NA 0 PE1 NX_P57082 60204 545 7.34 17 Cytoplasmic vesicle;Nucleus Ischiocoxopodopatellar syndrome 0 PE1 NX_P57086 19082 179 9.73 20 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 NX_P57087 33207 298 9.23 21 Nucleoplasm;Tight junction;Cell membrane NA 1 PE1 NX_P57088 27978 247 9.76 4 Endoplasmic reticulum membrane;Melanosome;Nucleus envelope NA 3 PE1 NX_P57103 103010 927 5.01 14 Endoplasmic reticulum membrane;Perikaryon;Sarcolemma;Sarcoplasm;Cell membrane;Mitochondrion outer membrane;Dendrite;Perinuclear region;Dendritic spine;Cell junction NA 11 PE1 NX_P57105 15928 145 5.86 14 Mitochondrion;Mitochondrion outer membrane NA 1 PE1 NX_P57678 120037 1058 5.7 17 Cytosol;Cytoplasm;Nucleolus;Nucleus;Gem Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 0 PE1 NX_P57679 111990 992 6.29 4 Cytosol;Nucleoplasm;Cell membrane;Cilium membrane;Cilium;Cilium basal body Ellis-van Creveld syndrome;Acrofacial dysostosis, Weyers type 1 PE1 NX_P57682 38829 345 9.44 4 Nucleoplasm;Nucleus NA 0 PE1 NX_P57721 39465 371 8.22 21 Cytoplasm NA 0 PE1 NX_P57723 41482 403 8.42 3 Cytosol;Cytoplasm NA 0 PE1 NX_P57727 49405 454 5.95 21 Endoplasmic reticulum membrane Deafness, autosomal recessive, 8 1 PE1 NX_P57729 23712 211 7.65 11 Melanosome;Cell membrane;Mitochondrion;Nucleus;Phagosome;Melanosome membrane;Phagosome membrane NA 0 PE1 NX_P57730 10138 90 6.27 11 NA NA 0 PE1 NX_P57735 23496 213 5.72 1 Cytosol;Cytoplasmic vesicle;Pseudopodium membrane;Cell junction;Cell membrane NA 0 PE1 NX_P57737 100605 925 5.51 16 Cytoplasmic vesicle;Cytosol;Golgi apparatus membrane;trans-Golgi network NA 0 PE1 NX_P57738 11341 103 5.51 3 Cytosol;Membrane NA 2 PE1 NX_P57739 24549 230 8.47 X Nucleoplasm;Cell membrane;Cell junction;Tight junction NA 4 PE1 NX_P57740 106374 925 5.28 12 Nucleoplasm;Kinetochore;Nuclear pore complex;Centrosome;Nucleus membrane Ovarian dysgenesis 6;Nephrotic syndrome 11 0 PE1 NX_P57764 52801 484 5 8 Cytosol;Nucleoplasm;Inflammasome;Cell membrane;Secreted NA 0 PE1 NX_P57768 39167 344 4.59 8 Cytoplasmic vesicle;Cytoplasm;Early endosome membrane;Late endosome membrane;Lysosome NA 0 PE1 NX_P57771 20917 180 9.36 1 Dendrite;Nucleus;Perikaryon;Cell membrane;Membrane NA 0 PE1 NX_P57772 65305 596 8.61 3 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P57773 58842 515 8.67 1 Gap junction;Cell membrane NA 4 PE2 NX_P57775 46337 412 7.54 10 Golgi apparatus Split-hand/foot malformation 3 0 PE1 NX_P57789 59765 538 8.9 14 Membrane NA 4 PE1 NX_P57796 30433 275 5.27 11 Cytoplasm Cone-rod synaptic disorder, congenital non-progressive 0 PE1 NX_P58004 54494 480 5.57 1 Cytosol;Cytoplasm NA 0 PE1 NX_P58005 57291 492 5.84 11 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 NX_P58012 38772 376 9.26 3 Cytoskeleton;Nucleus Premature ovarian failure 3;Blepharophimosis, ptosis, and epicanthus inversus syndrome 0 PE1 NX_P58062 9232 85 7.52 5 Secreted NA 0 PE1 NX_P58107 555658 5088 5.45 8 Basolateral cell membrane;Apicolateral cell membrane;Hemidesmosome;Cytoskeleton;Cell projection;Cell junction;Tight junction NA 0 PE1 NX_P58166 38561 350 9.49 12 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_P58170 35424 312 8.76 17 Cell membrane NA 7 PE2 NX_P58173 35414 313 8.64 6 Cell membrane NA 7 PE2 NX_P58180 34958 307 9.1 17 Cell membrane NA 7 PE2 NX_P58181 35535 314 8.87 11 Cell membrane NA 7 PE2 NX_P58182 34813 307 8.79 6 Cell membrane NA 7 PE2 NX_P58215 83166 753 6.4 2 Extracellular space;Nucleus;Cytoplasm NA 0 PE1 NX_P58294 11715 105 9.01 1 Secreted NA 0 PE1 NX_P58304 39411 361 7.11 14 Nucleus Microphthalmia, isolated, with coloboma, 3;Microphthalmia, isolated, 2;Microphthalmia with cataracts and iris abnormalities 0 PE1 NX_P58317 44694 390 8.37 19 Nucleoplasm;Nucleolus;Nucleus;Centrosome NA 0 PE1 NX_P58335 53666 489 7.42 4 Endoplasmic reticulum membrane;Cell membrane;Secreted Hyaline fibromatosis syndrome 1 PE1 NX_P58340 30627 268 9.46 3 Cytoplasm;Nucleus;Cilium;Cilium basal body NA 0 PE1 NX_P58397 177676 1594 8.25 5 Mitochondrion;Nucleolus;Extracellular matrix NA 0 PE1 NX_P58400 50424 472 8.19 2 Synapse;Cell membrane NA 1 PE1 NX_P58401 70927 666 5.96 11 Membrane NA 1 PE1 NX_P58417 31082 271 8.86 7 Secreted NA 0 PE1 NX_P58418 25719 232 8.8 3 Cell membrane Usher syndrome 3A;Retinitis pigmentosa 61 4 PE1 NX_P58499 25982 235 8.97 21 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_P58505 35003 322 10.06 21 Nucleoplasm;Nucleus NA 0 PE2 NX_P58511 6886 58 9.87 21 Focal adhesion;Membrane NA 1 PE1 NX_P58512 21308 204 5.95 21 NA NA 0 PE2 NX_P58513 9586 81 9.89 21 NA NA 0 PE5 NX_P58546 12895 118 5.27 7 Cytosol;Cytoplasm;Perinuclear region;Nucleus;Cell membrane NA 0 PE1 NX_P58549 8524 80 8.5 19 Membrane NA 1 PE1 NX_P58550 10590 94 6.81 X Membrane NA 1 PE5 NX_P58557 19298 167 7.06 21 Nucleoplasm;Nucleus NA 0 PE1 NX_P58658 49483 441 6.52 21 Membrane NA 1 PE1 NX_P58743 81264 744 5.91 7 Cell membrane Deafness, autosomal recessive, 61 12 PE2 NX_P58753 23883 221 7.56 11 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Membrane;Cytoskeleton NA 0 PE1 NX_P58872 45245 404 7.25 17 Membrane NA 7 PE1 NX_P58876 13936 126 10.31 6 Nucleus;Chromosome NA 0 PE1 NX_P59020 16743 149 11.26 21 NA NA 0 PE2 NX_P59022 9286 87 5.35 21 NA NA 0 PE5 NX_P59025 30913 263 7.99 3 Cell membrane NA 1 PE1 NX_P59036 7298 64 11.56 21 NA NA 0 PE5 NX_P59037 8510 77 7.58 21 NA NA 0 PE5 NX_P59044 98768 892 8.43 11 Cytoplasm;Inflammasome;Nucleus membrane;Cell membrane NA 0 PE1 NX_P59045 117779 1033 7.98 19 Cytosol NA 0 PE1 NX_P59046 120173 1061 6.59 19 Cytoplasm Familial cold autoinflammatory syndrome 2 0 PE1 NX_P59047 134342 1200 6.08 19 Mitochondrion;Cytoplasm;Nucleolus NA 0 PE1 NX_P59051 16132 145 12.1 21 NA NA 0 PE5 NX_P59052 15706 145 9.21 21 NA NA 0 PE5 NX_P59074 19069 171 5.17 14 NA NA 0 PE5 NX_P59089 18635 165 11.68 21 NA NA 0 PE5 NX_P59090 7097 65 9.38 21 NA NA 0 PE5 NX_P59091 15087 139 9.9 21 NA NA 0 PE5 NX_P59095 25022 220 9.36 18 NA NA 0 PE1 NX_P59103 18108 153 8.73 13 Golgi apparatus Schizophrenia 0 PE1 NX_P59190 24391 212 5.53 14 Cytoplasmic vesicle;Cell membrane;Microtubule organizing center NA 0 PE1 NX_P59282 18503 170 9.07 14 Cytoplasm NA 0 PE1 NX_P59510 214721 1910 6.98 12 Extracellular matrix NA 0 PE2 NX_P59533 37892 333 9.6 7 Membrane NA 7 PE2 NX_P59534 38626 338 9.12 7 Membrane NA 7 PE2 NX_P59535 36812 323 9.95 7 Membrane NA 7 PE2 NX_P59536 35896 307 9.98 7 Membrane NA 7 PE2 NX_P59537 35599 309 10.05 12 Cilium membrane;Membrane NA 7 PE2 NX_P59538 35278 309 10.05 12 Membrane NA 7 PE2 NX_P59539 34278 299 10.06 12 Membrane NA 7 PE2 NX_P59540 35523 309 9.79 12 Cilium membrane;Membrane NA 7 PE2 NX_P59541 36874 319 10.12 12 Membrane NA 7 PE2 NX_P59542 33908 299 9.97 12 Membrane NA 7 PE2 NX_P59543 35358 309 10.06 12 Membrane NA 7 PE2 NX_P59544 34558 299 9.83 12 Membrane NA 7 PE2 NX_P59551 36337 318 9.94 7 Membrane NA 7 PE2 NX_P59646 9373 89 7.65 10 Membrane NA 1 PE2 NX_P59665 10201 94 6.54 8 Secreted NA 0 PE1 NX_P59666 10245 94 5.71 8 Secreted NA 0 PE1 NX_P59768 7850 71 7.78 14 Cytoplasmic vesicle;Cell membrane;Golgi apparatus NA 0 PE1 NX_P59773 21573 190 7.86 5 Membrane NA 1 PE2 NX_P59780 22017 193 5.11 15 Cytoplasmic vesicle membrane;Golgi apparatus NA 0 PE1 NX_P59796 24971 221 6.21 6 Secreted NA 0 PE2 NX_P59797 36800 346 9.68 19 NA NA 0 PE1 NX_P59817 60816 542 9.03 22 Nucleoplasm;Nucleus NA 0 PE1 NX_P59826 50342 476 6.27 20 Cytoplasm;Secreted NA 0 PE1 NX_P59827 65055 614 4.95 20 Cytoplasm;Secreted NA 0 PE1 NX_P59861 8199 70 7.59 4 Secreted NA 0 PE1 NX_P59894 39859 354 9.4 11 NA NA 0 PE2 NX_P59901 55165 499 8.29 19 Cell membrane NA 1 PE1 NX_P59910 36118 316 7.68 11 Flagellum;Cell membrane Ciliary dyskinesia, primary, 34 0 PE1 NX_P59922 35019 312 8.89 6 Cell membrane NA 7 PE5 NX_P59923 118963 1031 9.5 3 Cytosol;Mitochondrion;Nucleus NA 0 PE1 NX_P59942 13259 119 7.85 6 Mitochondrion NA 0 PE2 NX_P59990 9737 96 8.22 21 NA NA 0 PE1 NX_P59991 14689 146 8.17 21 NA NA 0 PE1 NX_P59998 19667 168 8.53 3 Nucleus;Cytoskeleton;Cell projection NA 0 PE1 NX_P60002 9462 83 8.24 19 Cytosol;Nucleus NA 0 PE1 NX_P60006 14281 121 3.47 11 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_P60008 25632 231 10.95 17 Nucleus;Chromosome NA 0 PE1 NX_P60014 25571 251 7.35 21 NA NA 0 PE1 NX_P60022 7420 68 8.96 8 Secreted;Membrane NA 0 PE1 NX_P60033 25809 236 5.09 11 Basolateral cell membrane;Cell membrane Immunodeficiency, common variable, 6 4 PE1 NX_P60059 7741 68 10.01 7 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 NX_P60153 24307 205 6.18 14 Secreted NA 0 PE1 NX_P60174 30791 286 5.65 12 Nucleoplasm Triosephosphate isomerase deficiency 0 PE1 NX_P60201 30077 277 8.71 X Myelin membrane;Cell membrane Leukodystrophy, hypomyelinating, 1;Spastic paraplegia 2, X-linked 4 PE1 NX_P60228 52221 445 5.71 8 Cytosol;Cytoplasm;Nucleus;PML body NA 0 PE1 NX_P60321 15132 138 9.02 19 Cytoplasm;Perinuclear region;P-body NA 0 PE1 NX_P60323 18844 173 9.17 19 Nucleolus;Golgi apparatus;Stress granule;Cytoplasm;P-body;Nucleus NA 0 PE1 NX_P60328 9947 96 8.02 21 NA NA 0 PE1 NX_P60329 11433 112 7.68 21 NA NA 0 PE1 NX_P60331 28660 282 7.77 21 NA NA 0 PE2 NX_P60368 25616 255 7.52 21 NA NA 0 PE2 NX_P60369 22348 221 7.99 21 NA NA 0 PE2 NX_P60370 27626 271 7.5 21 NA NA 0 PE1 NX_P60371 36791 365 6 21 NA NA 0 PE2 NX_P60372 40429 401 7.12 21 NA NA 0 PE1 NX_P60409 37372 370 7.38 21 NA NA 0 PE1 NX_P60410 26299 259 7.82 21 NA NA 0 PE1 NX_P60411 30037 292 7.87 21 NA NA 0 PE1 NX_P60412 30243 298 7.93 21 NA NA 0 PE1 NX_P60413 25107 245 7.94 21 NA NA 0 PE2 NX_P60468 9974 96 11.57 9 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 NX_P60484 47166 403 5.94 10 PML body;Secreted;Cytosol;Cytoplasm;Nucleoplasm;Nucleus Glioma 2;Prostate cancer;Macrocephaly/autism syndrome;Cowden syndrome 1;Squamous cell carcinoma of the head and neck;Endometrial cancer;Lhermitte-Duclos disease 0 PE1 NX_P60507 65248 584 8.56 X Virion;Cell membrane NA 1 PE1 NX_P60508 59523 538 9.14 6 Virion;Cell membrane NA 1 PE1 NX_P60509 58521 514 7.61 3 Cell membrane NA 1 PE2 NX_P60510 35080 307 4.91 16 Cytosol;Cytoplasm;Nucleus;Centrosome;Cell membrane NA 0 PE1 NX_P60520 13667 117 7.81 16 Golgi apparatus;Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Autophagosome NA 0 PE1 NX_P60568 17628 153 7.67 4 Secreted NA 0 PE1 NX_P60602 8183 79 9.58 20 Cytoplasm;Mitochondrion inner membrane NA 1 PE1 NX_P60604 18566 165 4.62 21 NA NA 0 PE1 NX_P60606 9045 82 5.08 19 Nucleoplasm;Cell junction;Cell membrane;Membrane NA 1 PE2 NX_P60608 58319 527 8.65 7 Virion NA 0 PE1 NX_P60660 16930 151 4.56 12 NA NA 0 PE1 NX_P60673 14596 137 9.49 5 Cytoskeleton;Nucleus NA 0 PE1 NX_P60709 41737 375 5.29 7 Cytoskeleton;Nucleus Dystonia, juvenile-onset;Baraitser-Winter syndrome 1 0 PE1 NX_P60763 21379 192 8.43 17 Cytoplasm;Cell membrane;Endomembrane system;Perinuclear region;Lamellipodium;Cytoskeleton NA 0 PE1 NX_P60827 27685 252 9.7 16 Secreted NA 0 PE1 NX_P60842 46154 406 5.32 17 Cytoplasm;Nucleus NA 0 PE1 NX_P60852 70049 638 6.63 11 Cell membrane;Extracellular matrix Oocyte maturation defect 1 1 PE1 NX_P60866 13373 119 9.95 8 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_P60880 23315 206 4.66 20 Synaptosome;Perinuclear region;Cell membrane Myasthenic syndrome, congenital, 18 0 PE1 NX_P60891 34834 318 6.51 X NA Deafness, X-linked, 1;ARTS syndrome;Phosphoribosylpyrophosphate synthetase superactivity;Charcot-Marie-Tooth disease, X-linked recessive, 5 0 PE1 NX_P60893 41995 370 9.75 7 Golgi apparatus;Endoplasmic reticulum;Cell membrane NA 7 PE1 NX_P60896 8278 70 3.81 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P60900 27399 246 6.35 14 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P60903 11203 97 6.82 1 Mitochondrion;Cytoplasm NA 0 PE1 NX_P60953 21259 191 6.16 1 Spindle;Cytoskeleton;Midbody;Cell membrane;Centrosome Takenouchi-Kosaki syndrome 0 PE1 NX_P60981 18506 165 8.06 20 NA NA 0 PE1 NX_P60983 16713 142 5.19 14 NA NA 0 PE1 NX_P60985 11050 99 6.72 19 Secreted NA 0 PE1 NX_P61006 23668 207 9.15 19 Golgi apparatus;Phagosome;Midbody;Centriole;Nucleus;Cell membrane;Phagosome membrane;Recycling endosome membrane;Cilium;Cilium basal body NA 0 PE1 NX_P61009 20313 180 8.66 4 Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum NA 1 PE1 NX_P61011 55705 504 8.87 14 Cytosol;Cytoplasm;Nucleolus;Nucleus speckle NA 0 PE1 NX_P61018 23587 213 5.8 19 Cell membrane NA 0 PE1 NX_P61019 23546 212 6.08 8 Endoplasmic reticulum membrane;Melanosome;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 0 PE1 NX_P61020 23707 215 8.29 12 Melanosome;Cytoplasm;Early endosome membrane;Cell membrane;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P61024 9660 79 8.89 1 NA NA 0 PE1 NX_P61026 22541 200 8.58 2 Endoplasmic reticulum membrane;trans-Golgi network membrane;Endosome membrane;Perinuclear region;Golgi apparatus membrane;Phagosome membrane;Cytoplasmic vesicle membrane;Recycling endosome membrane;Cilium NA 0 PE1 NX_P61073 39746 352 8.46 2 Early endosome;Late endosome;Cell junction;Cell membrane;Lysosome WHIM syndrome 7 PE1 NX_P61077 16687 147 7.67 4 Endosome membrane;Cell membrane NA 0 PE1 NX_P61081 20900 183 7.57 19 Cytosol;Nucleus NA 0 PE1 NX_P61086 22407 200 5.33 4 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_P61088 17138 152 6.13 12 Cytoplasm;Nucleus NA 0 PE1 NX_P61106 23897 215 5.85 9 trans-Golgi network membrane;Cytoplasm;Early endosome membrane;Phagosome;Cytoplasmic vesicle;Nucleus;Golgi apparatus membrane;Recycling endosome NA 0 PE1 NX_P61129 131670 1189 7.31 2 Nucleoplasm;Golgi apparatus NA 0 PE1 NX_P61158 47371 418 5.61 2 Cytoplasm;Cytoskeleton;Nucleus;Cell projection NA 0 PE1 NX_P61160 44761 394 6.29 2 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Cell projection NA 0 PE1 NX_P61163 42614 376 6.19 10 Cytoplasm;Cytoskeleton;Cell cortex;Centrosome NA 0 PE1 NX_P61165 9079 79 5.57 11 Cytosol;Cell membrane;Endoplasmic reticulum;Membrane NA 2 PE1 NX_P61201 51597 443 5.36 15 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_P61204 20601 181 6.84 12 Perinuclear region;Golgi apparatus NA 0 PE1 NX_P61218 14478 127 4.11 22 Nucleolus;Nucleus NA 0 PE1 NX_P61221 67314 599 8.63 4 Cytosol;Mitochondrion;Cytoplasm NA 0 PE1 NX_P61224 20825 184 5.65 12 Cytosol;Cytoplasm;Nucleus;Cell junction;Cell membrane NA 0 PE1 NX_P61225 20504 183 4.73 3 Recycling endosome membrane NA 0 PE1 NX_P61236 13608 119 7.66 16 Nucleolus NA 0 PE1 NX_P61244 18275 160 5.88 14 Cytoplasmic vesicle;Dendrite;Nucleus;Golgi apparatus;Nucleoplasm Pheochromocytoma 0 PE1 NX_P61247 29945 264 9.75 4 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_P61254 17258 145 10.55 17 NA Diamond-Blackfan anemia 11 0 PE1 NX_P61266 33245 288 5.25 16 Spindle;Nucleus;Centrosome;Membrane Generalized epilepsy with febrile seizures plus 9 1 PE1 NX_P61278 12736 116 5.47 3 Secreted NA 0 PE1 NX_P61289 29506 254 5.69 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P61296 23666 217 9.23 4 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P61313 24146 204 11.62 3 Membrane Diamond-Blackfan anemia 12 0 PE1 NX_P61326 17164 146 5.74 1 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_P61328 27399 243 9.98 3 Nucleoplasm;Cytosol;Nucleus Epileptic encephalopathy, early infantile, 47 0 PE1 NX_P61353 15798 136 10.56 17 Cytosol;Cytoplasm;Nucleolus;Rough endoplasmic reticulum Diamond-Blackfan anemia 16 0 PE1 NX_P61366 14722 133 9.62 3 Secreted NA 0 PE1 NX_P61371 39036 349 8.64 5 Nucleoplasm;Nucleus NA 0 PE1 NX_P61421 40329 351 4.89 16 Membrane NA 0 PE1 NX_P61457 12000 104 6.28 10 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Hyperphenylalaninemia, BH4-deficient, D 0 PE1 NX_P61513 10275 92 10.44 2 NA NA 0 PE1 NX_P61550 68171 626 8.25 19 Cell membrane NA 1 PE1 NX_P61565 79236 698 9.22 12 Virion;Cell membrane NA 1 PE1 NX_P61566 66585 588 8.23 22 Virion;Cell membrane NA 1 PE2 NX_P61567 66649 588 8.55 1 Virion;Cell membrane NA 1 PE2 NX_P61568 21462 191 6.29 1 Virion NA 0 PE5 NX_P61570 74892 661 9 11 Virion;Cell membrane NA 1 PE3 NX_P61571 11722 104 10.39 12 Cytoplasm;Nucleolus NA 0 PE1 NX_P61572 11828 105 10.22 19 Cytoplasm;Nucleolus NA 0 PE1 NX_P61573 11828 105 10.22 6 Cytoplasm;Nucleolus NA 0 PE1 NX_P61574 11920 105 10.13 19 Cytoplasm;Nucleolus NA 0 PE1 NX_P61575 11844 105 10.22 8 Cytoplasm;Nucleolus NA 0 PE1 NX_P61576 11735 105 9.95 5 Cytoplasm;Nucleolus NA 0 PE1 NX_P61578 11808 105 10 10 Cytoplasm;Nucleolus NA 0 PE1 NX_P61579 11828 105 10.22 11 Cytoplasm;Nucleolus NA 0 PE1 NX_P61580 8892 75 9.91 5 Nucleus NA 0 PE1 NX_P61581 8893 75 9.74 22 Nucleus NA 0 PE1 NX_P61582 8820 75 9.58 1 Nucleus NA 0 PE3 NX_P61583 8907 75 9.66 3 Nucleus NA 0 PE3 NX_P61586 21768 193 5.83 3 Cleavage furrow;Cell cortex;Cell membrane;Lamellipodium;Cytoskeleton;Midbody NA 0 PE1 NX_P61587 27368 244 8.78 2 Golgi apparatus membrane NA 0 PE1 NX_P61599 20368 178 4.98 20 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P61601 22245 193 5.23 8 NA NA 0 PE1 NX_P61604 10932 102 8.89 2 Mitochondrion matrix NA 0 PE1 NX_P61619 52265 476 8.3 3 Endoplasmic reticulum membrane;Endoplasmic reticulum Familial juvenile hyperuricemic nephropathy 4 10 PE1 NX_P61626 16537 148 9.38 12 Nucleoplasm;Cytoskeleton;Golgi apparatus;Secreted Amyloidosis 8 0 PE1 NX_P61647 44836 398 9.19 10 Golgi apparatus membrane;Endoplasmic reticulum NA 1 PE1 NX_P61758 22658 197 6.64 X Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P61764 67569 594 6.5 9 Cytosol;Nucleoplasm;Membrane Epileptic encephalopathy, early infantile, 4 0 PE1 NX_P61769 13715 119 6.06 15 Cytosol;Cell surface;Cell membrane;Golgi apparatus;Secreted Amyloidosis 8;Immunodeficiency 43 0 PE1 NX_P61803 12497 113 6.52 14 Cytosol;Endoplasmic reticulum membrane NA 3 PE1 NX_P61812 47748 414 8.82 1 Secreted;Extracellular matrix Loeys-Dietz syndrome 4 0 PE1 NX_P61916 16570 151 7.57 14 Secreted;Endoplasmic reticulum;Lysosome Niemann-Pick disease C2 0 PE1 NX_P61923 20198 177 4.69 12 COPI-coated vesicle membrane;Cytoplasm;Golgi apparatus membrane;Golgi apparatus;Cell membrane NA 0 PE1 NX_P61925 7989 76 4.45 8 NA NA 0 PE1 NX_P61927 11078 97 11.74 5 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P61952 8481 73 5.47 7 Cytoplasm;Cell membrane NA 0 PE1 NX_P61956 10871 95 5.32 17 PML body;Nucleus NA 0 PE1 NX_P61960 9118 85 9.36 13 Cytoplasm;Nucleus Leukodystrophy, hypomyelinating, 14 0 PE1 NX_P61962 38926 342 5.27 17 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_P61964 36588 334 8.54 9 Nucleoplasm;Nucleus NA 0 PE1 NX_P61966 18733 158 5.6 7 Cytoplasmic vesicle membrane;Clathrin-coated pit;Golgi apparatus Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 0 PE1 NX_P61968 17994 165 8.75 1 Nucleoplasm;Midbody ring NA 0 PE1 NX_P61970 14478 127 5.1 16 Nucleus outer membrane;Cytosol;Nuclear pore complex;Nucleoplasm;Cytoskeleton;Nucleus inner membrane NA 0 PE1 NX_P61978 50976 463 5.39 9 Nucleoplasm;Cytoplasm;Podosome Au-Kline syndrome 0 PE1 NX_P61981 28303 247 4.8 7 Cytoplasm Epileptic encephalopathy, early infantile, 56 0 PE1 NX_P62068 42442 366 6.39 4 Nucleolus NA 0 PE1 NX_P62070 23400 204 5.74 11 Cytosol;Nucleus;Cell membrane Ovarian cancer 0 PE1 NX_P62072 10333 90 5.89 11 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_P62079 30337 268 4.59 4 Cell membrane NA 4 PE1 NX_P62081 22127 194 10.09 2 Cytosol;Nucleolus;Nucleus;Centrosome;Endoplasmic reticulum Diamond-Blackfan anemia 8 0 PE1 NX_P62136 37512 330 5.94 11 Nucleolus;Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus NA 0 PE1 NX_P62140 37187 327 5.84 2 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;Cell membrane Noonan syndrome-like disorder with loose anagen hair 2 0 PE1 NX_P62166 21879 190 4.71 9 Golgi apparatus;Cytoplasm;Cell membrane;Perinuclear region;Membrane;Postsynaptic density NA 0 PE1 NX_P62191 49185 440 5.87 14 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Membrane NA 0 PE1 NX_P62195 45626 406 7.11 17 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_P62241 24205 208 10.32 1 Nucleolus;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleus;Membrane NA 0 PE1 NX_P62244 14840 130 10.14 16 Cytoplasm NA 0 PE1 NX_P62249 16445 146 10.21 19 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_P62253 19509 170 5.2 17 Cytosol;Nucleoplasm NA 0 PE1 NX_P62256 20655 183 4.55 7 Mitochondrion NA 0 PE1 NX_P62258 29174 255 4.63 17 Cytosol;Cytoplasm;Nucleus;Melanosome NA 0 PE1 NX_P62263 16273 151 10.07 5 Cytosol;Endoplasmic reticulum NA 0 PE1 NX_P62266 15808 143 10.5 5 Cytosol;Cytoplasm;Rough endoplasmic reticulum;Endoplasmic reticulum Brachycephaly, trichomegaly, and developmental delay 0 PE1 NX_P62269 17719 152 10.99 6 Cytosol;Cytoplasm NA 0 PE1 NX_P62273 6677 56 10.16 14 Cytosol;Cytoplasm;Rough endoplasmic reticulum;Endoplasmic reticulum Diamond-Blackfan anemia 13 0 PE1 NX_P62277 17222 151 10.53 11 Nucleolus;Endoplasmic reticulum NA 0 PE1 NX_P62280 18431 158 10.31 19 Cytosol;Nucleolus;Endoplasmic reticulum NA 0 PE1 NX_P62304 10804 92 9.46 1 Cytosol;Nucleus Hypotrichosis 11 0 PE1 NX_P62306 9725 86 4.7 12 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_P62308 8496 76 8.98 2 Cytosol;Nucleus NA 0 PE1 NX_P62310 11845 102 4.58 3 Nucleolus;Nucleus NA 0 PE1 NX_P62312 9128 80 9.61 4 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_P62314 13282 119 11.56 18 Cytosol;Nucleus NA 0 PE1 NX_P62316 13527 118 9.92 19 Cytosol;Nucleus NA 0 PE1 NX_P62318 13916 126 10.33 22 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_P62324 19209 171 8.35 12 Cytosol;Nucleoplasm NA 0 PE1 NX_P62328 5053 44 5.02 X Cytoplasmic vesicle;Nucleoplasm;Cytoskeleton;Cytosol NA 0 PE1 NX_P62330 20082 175 9.04 14 Ruffle;Cleavage furrow;Cytosol;Early endosome membrane;Midbody ring;Cell membrane;Endosome membrane;Filopodium membrane;trans-Golgi network membrane;Recycling endosome membrane NA 0 PE1 NX_P62333 44173 389 7.09 14 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 NX_P62341 22324 195 8.79 3 Endoplasmic reticulum membrane NA 1 PE1 NX_P62380 20887 186 9.61 6 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P62424 29996 266 10.61 9 Cytoplasmic vesicle;Nucleolus NA 0 PE1 NX_P62487 19294 172 5.33 11 Nucleoplasm;Nucleus NA 0 PE1 NX_P62491 24394 216 6.12 15 Golgi apparatus;Cleavage furrow;Phagosome;Microtubule organizing center;Cytoplasmic vesicle;Cell membrane;Recycling endosome membrane NA 0 PE1 NX_P62495 49031 437 5.51 5 Cytoplasm NA 0 PE1 NX_P62502 18045 163 4.84 9 Secreted NA 0 PE1 NX_P62508 51306 458 6.04 1 Nucleus NA 0 PE1 NX_P62633 19463 177 8 3 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum Dystrophia myotonica 2 0 PE1 NX_P62683 74000 666 8.86 12 Cell membrane NA 0 PE1 NX_P62684 74038 666 8.95 19 Cell membrane NA 0 PE1 NX_P62685 72181 647 8.88 8 Cell membrane NA 0 PE1 NX_P62699 13842 121 6.82 2 Cytosol;Spindle pole;Midbody;Nucleoplasm;Nucleus;Centrosome NA 0 PE1 NX_P62701 29598 263 10.16 X Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P62714 35575 309 5.21 8 Nucleoplasm;Cytoplasm;Nucleus;Centromere;Spindle pole NA 0 PE1 NX_P62736 42009 377 5.24 10 Cytoskeleton Aortic aneurysm, familial thoracic 6;Multisystemic smooth muscle dysfunction syndrome;Moyamoya disease 5 0 PE1 NX_P62745 22123 196 5.1 2 Late endosome membrane;Nucleus;Cleavage furrow;Cell membrane NA 0 PE1 NX_P62750 17695 156 10.44 17 Nucleolus;Nucleus NA 0 PE1 NX_P62753 28681 249 10.85 9 Cytosol;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_P62760 22142 191 5.01 2 NA NA 0 PE1 NX_P62805 11367 103 11.36 12 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_P62807 13906 126 10.31 6 Nucleus;Chromosome NA 0 PE1 NX_P62820 22678 205 5.93 2 Melanosome;Golgi apparatus;Cytosol;Cytoplasm;Early endosome;Endoplasmic reticulum;Membrane NA 0 PE1 NX_P62826 24423 216 7.01 12 Cytosol;Melanosome;Nucleus;Nucleus envelope;Cytoplasm NA 0 PE1 NX_P62829 14865 140 10.51 17 Cytosol;Cytoplasm NA 0 PE1 NX_P62834 20987 184 6.39 1 Cytoplasm;Perinuclear region;Cell junction;Cell membrane;Early endosome NA 0 PE1 NX_P62837 16735 147 7.69 5 NA NA 0 PE1 NX_P62841 17040 145 10.39 19 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_P62847 15423 133 10.79 10 Cytosol;Nucleus;Endoplasmic reticulum Diamond-Blackfan anemia 3 0 PE1 NX_P62851 13742 125 10.12 11 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_P62854 13015 115 11.01 12 Cytosol;Cytoplasm;Rough endoplasmic reticulum Diamond-Blackfan anemia 10 0 PE1 NX_P62857 7841 69 10.7 19 Cytosol;Cytoplasm;Rough endoplasmic reticulum Diamond-Blackfan anemia 15, with mandibulofacial dysostosis 0 PE1 NX_P62861 6648 59 12.15 11 Cytosol;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_P62873 37377 340 5.6 1 NA Mental retardation, autosomal dominant 42 0 PE1 NX_P62875 7645 67 7.65 11 Nucleus NA 0 PE1 NX_P62877 12274 108 6.49 22 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P62879 37331 340 5.6 7 Perinuclear region NA 0 PE1 NX_P62888 12784 115 9.65 8 Cytosol;Cytoplasm;Nucleolus;Endoplasmic reticulum NA 0 PE1 NX_P62891 6407 51 12.55 X NA NA 0 PE1 NX_P62899 14463 125 10.54 2 NA NA 0 PE1 NX_P62906 24831 217 9.94 6 Cytosol;Nucleolus;Endoplasmic reticulum NA 0 PE1 NX_P62910 15860 135 11.32 3 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_P62913 20252 178 9.64 1 Cytoplasmic vesicle;Cytoplasm;Nucleolus Diamond-Blackfan anemia 7 0 PE1 NX_P62917 28025 257 11.04 8 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_P62937 18012 165 7.68 7 Cytoplasm;Secreted NA 0 PE1 NX_P62942 11951 108 7.89 20 Cytosol;Sarcoplasmic reticulum membrane NA 0 PE1 NX_P62945 3456 25 12.96 12 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P62952 9876 87 6.21 20 Nucleolus;Membrane NA 2 PE1 NX_P62955 31003 275 6.65 19 Cell membrane NA 4 PE1 NX_P62979 17965 156 9.68 2 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_P62987 14728 128 9.87 19 Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_P62993 25206 217 5.89 17 Cytoplasm;Endosome;Nucleus;Golgi apparatus NA 0 PE1 NX_P62995 33666 288 11.25 3 Nucleoplasm;Nucleus NA 0 PE1 NX_P63000 21450 192 8.77 7 Nucleolus;Melanosome;Cytosol;Cytoplasm;Cell membrane;Nucleus;Lamellipodium Mental retardation, autosomal dominant 48 0 PE1 NX_P63010 104553 937 5.22 17 Cytoplasmic vesicle;Coated pit;Cell membrane NA 0 PE1 NX_P63027 12663 116 7.84 17 Synaptosome;Synaptic vesicle membrane;Cell membrane NA 1 PE1 NX_P63092 45665 394 5.59 20 Cell membrane Pseudohypoparathyroidism 1B;Pseudohypoparathyroidism 1C;Pseudohypoparathyroidism 1A;Albright hereditary osteodystrophy;GNAS hyperfunction;Progressive osseous heteroplasia;ACTH-independent macronodular adrenal hyperplasia 1;McCune-Albright syndrome 0 PE1 NX_P63096 40361 354 5.69 7 Golgi apparatus;Cytoplasm;Cell cortex;Cell membrane;Nucleus;Membrane;Centrosome NA 0 PE1 NX_P63098 19300 170 4.64 2 Cytosol;Cytoplasm;Sarcolemma;Cell membrane NA 0 PE1 NX_P63104 27745 245 4.73 8 Cytoplasm;Melanosome NA 0 PE1 NX_P63119 17107 156 7.92 12 NA NA 0 PE3 NX_P63120 17107 156 7.92 19 NA NA 0 PE3 NX_P63121 17136 156 5.86 19 NA NA 0 PE3 NX_P63122 17206 156 8.56 8 NA NA 0 PE3 NX_P63123 17101 156 7.95 1 NA NA 0 PE3 NX_P63124 17121 156 5.86 5 NA NA 0 PE3 NX_P63125 17077 156 7.92 11 NA NA 0 PE3 NX_P63126 74005 666 9.02 6 Cell membrane NA 0 PE1 NX_P63127 17194 156 8.56 6 NA NA 0 PE3 NX_P63128 123620 1117 9.04 6 Cell membrane NA 0 PE3 NX_P63129 17139 156 7.92 22 NA NA 0 PE3 NX_P63130 74111 666 8.99 1 Cell membrane NA 0 PE3 NX_P63131 17078 156 5.86 1 NA NA 0 PE3 NX_P63132 107766 956 9.06 19 NA NA 0 PE3 NX_P63133 107703 956 9.11 8 NA NA 0 PE3 NX_P63135 165184 1459 9.09 1 NA NA 0 PE3 NX_P63136 107472 954 9.14 11 NA NA 0 PE3 NX_P63145 74040 666 8.99 22 Cell membrane NA 0 PE1 NX_P63146 17312 152 4.91 5 Nucleus;Cell membrane NA 0 PE1 NX_P63151 51692 447 5.82 8 NA NA 0 PE1 NX_P63162 24614 240 11.2 15 Nucleus NA 0 PE1 NX_P63165 11557 101 5.34 2 Nucleus speckle;Nucleolus;Nucleus membrane;PML body;Cytoplasm;Cell membrane;Nucleus Non-syndromic orofacial cleft 10 0 PE1 NX_P63167 10366 89 6.89 12 Mitochondrion;Cytoskeleton;Nucleus;Centrosome NA 0 PE1 NX_P63172 12452 113 5 6 Nucleoplasm;Cytoplasm;Spindle;Golgi apparatus NA 0 PE1 NX_P63173 8218 70 10.1 17 Cytosol;Endoplasmic reticulum NA 0 PE1 NX_P63208 18658 163 4.4 5 Cytosol;Nucleus NA 0 PE1 NX_P63211 8496 74 4.76 7 Cell membrane NA 0 PE1 NX_P63215 8305 75 7.65 11 Cell membrane NA 0 PE1 NX_P63218 7318 68 9.9 1 Cell membrane NA 0 PE1 NX_P63220 9111 83 8.68 20 Cytosol;Cytoplasm;Rough endoplasmic reticulum;Endoplasmic reticulum NA 0 PE1 NX_P63241 16832 154 5.07 17 Endoplasmic reticulum membrane;Cytosol;Cytoplasm;Nuclear pore complex;Nucleoplasm;Nucleus NA 0 PE1 NX_P63244 35077 317 7.6 5 Phagocytic cup;Perikaryon;Dendrite;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Perinuclear region;Nucleus NA 0 PE1 NX_P63252 48288 427 5.47 17 Membrane Short QT syndrome 3;Long QT syndrome 7;Atrial fibrillation, familial, 9 2 PE1 NX_P63261 41793 375 5.31 17 Cytoplasm;Cytoskeleton Deafness, autosomal dominant, 20;Baraitser-Winter syndrome 2 0 PE1 NX_P63267 41877 376 5.31 2 Cytoskeleton Visceral myopathy 0 PE1 NX_P63272 13193 117 8.29 17 Nucleus NA 0 PE1 NX_P63279 18007 158 8.87 16 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P63302 9448 87 9.3 19 Cytoplasm NA 0 PE1 NX_P63313 5026 44 5.31 2 Cytoskeleton NA 0 PE1 NX_P63316 18403 161 4.04 3 Mitochondrion;Nucleoplasm;Cytoskeleton Cardiomyopathy, familial hypertrophic 13;Cardiomyopathy, dilated 1Z 0 PE1 NX_P67775 35594 309 5.3 5 Cytoplasm;Nucleus;Centromere;Spindle pole NA 0 PE1 NX_P67809 35924 324 9.87 1 Nucleolus;Secreted;Cytosol;Cytoplasm;Cytoplasmic vesicle;Cytoplasmic granule;Nucleus NA 0 PE1 NX_P67812 20625 179 9.48 15 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_P67870 24942 215 5.33 6 NA NA 0 PE1 NX_P67936 28522 248 4.67 19 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 NX_P68032 42019 377 5.23 15 Cytoskeleton Cardiomyopathy, dilated 1R;Atrial septal defect 5;Cardiomyopathy, familial hypertrophic 11 0 PE1 NX_P68036 17862 154 8.68 22 Cytoplasm;Nucleus NA 0 PE1 NX_P68104 50141 462 9.1 6 Cytoplasm;Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_P68106 11783 108 8.62 2 Cytoplasmic vesicle;Cytoplasm;Sarcoplasmic reticulum NA 0 PE1 NX_P68133 42051 377 5.23 1 Cytoskeleton Myopathy, actin, congenital, with excess of thin myofilaments;Nemaline myopathy 3;Myopathy, scapulohumeroperoneal;Myopathy, congenital, with fiber-type disproportion 0 PE1 NX_P68363 50152 451 4.94 12 Cytoplasm;Cytoskeleton NA 0 PE1 NX_P68366 49924 448 4.95 2 Cytoskeleton Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia 0 PE1 NX_P68371 49831 445 4.79 9 Cytoplasm;Cytoskeleton Leber congenital amaurosis with early-onset deafness 0 PE1 NX_P68400 45144 391 7.29 20 Nucleus Okur-Chung neurodevelopmental syndrome 0 PE1 NX_P68402 25569 229 5.57 11 Cytosol;Cytoplasm;Nucleolus;Cell membrane NA 0 PE1 NX_P68431 15404 136 11.13 6 Nucleus;Chromosome Glioma 0 PE1 NX_P68543 29278 259 5.91 2 Cytoplasm;Nucleus;Centrosome NA 0 PE1 NX_P68871 15998 147 6.74 11 Cytoplasm;Nucleus Beta-thalassemia, dominant, inclusion body type;Heinz body anemias;Beta-thalassemia;Sickle cell anemia 0 PE1 NX_P69849 134134 1222 5.44 16 Membrane NA 1 PE3 NX_P69891 16140 147 6.64 11 NA NA 0 PE1 NX_P69892 16126 147 6.64 11 NA Cyanosis transient neonatal 0 PE1 NX_P69905 15258 142 8.72 16 NA Hemoglobin H disease;Alpha-thalassemia;Heinz body anemias 0 PE1 NX_P78310 40030 365 7.49 21 Basolateral cell membrane;Secreted;Cell membrane;Adherens junction;Cell junction;Tight junction NA 1 PE1 NX_P78312 139988 1265 6.04 4 Cytosol;Cell membrane NA 0 PE1 NX_P78314 62244 561 7.67 4 Cytoskeleton;Nucleus Cherubism 0 PE1 NX_P78316 97668 857 7.33 4 Nucleolus;Nucleus NA 0 PE1 NX_P78317 21319 190 6.59 4 Nucleoplasm;Cytoplasm;Nucleus;PML body NA 0 PE1 NX_P78318 39222 339 5.26 X Cytoplasm;Cytoskeleton Mental retardation, X-linked, syndromic, 28 0 PE1 NX_P78324 54967 504 6.51 20 Membrane NA 1 PE1 NX_P78325 88771 824 7.63 10 Membrane NA 1 PE1 NX_P78329 59853 520 6.6 19 Endoplasmic reticulum membrane;Microsome membrane Coumarin resistance 0 PE1 NX_P78330 25008 225 5.53 7 Cytosol Phosphoserine phosphatase deficiency 0 PE1 NX_P78332 128644 1123 5.93 3 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 NX_P78333 63707 572 6.38 13 Cytosol;Extracellular space;Nucleus;Cell membrane NA 0 PE1 NX_P78334 57972 506 8.36 X Postsynaptic cell membrane;Cell membrane NA 4 PE2 NX_P78337 34128 314 9.13 5 Nucleolus;Nucleus Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly;Liebenberg syndrome 0 PE1 NX_P78344 102362 907 6.7 11 Cytosol NA 0 PE1 NX_P78345 31834 283 9.94 10 Nucleolus NA 0 PE1 NX_P78346 29321 268 9.11 10 Cytosol;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_P78347 112416 998 6.09 7 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P78348 59909 528 5.48 12 Cell membrane;Golgi apparatus NA 2 PE1 NX_P78352 80495 724 5.58 17 Cytoplasmic vesicle;Synapse;Cytoplasm;Cell membrane;Axon;Postsynaptic density NA 0 PE1 NX_P78356 47378 416 6.9 17 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 NX_P78357 156267 1384 6.61 17 Nucleoplasm;Paranodal septate junction;Membrane Lethal congenital contracture syndrome 7 1 PE1 NX_P78358 17992 180 8.79 X Cytoplasm NA 0 PE1 NX_P78362 77527 688 4.87 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_P78363 255944 2273 5.89 1 Membrane Cone-rod dystrophy 3;Macular degeneration, age-related, 2;Stargardt disease 1;Retinitis pigmentosa 19;Fundus flavimaculatus 12 PE1 NX_P78364 105534 1004 9.17 12 Nucleus Microcephaly 11, primary, autosomal recessive 0 PE1 NX_P78367 34814 333 8.12 4 Nucleoplasm;Nucleus Spondylo-megaepiphyseal-metaphyseal dysplasia 0 PE1 NX_P78368 47457 415 9.16 19 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_P78369 24488 228 8.32 13 Tight junction;Cell membrane HELIX syndrome 4 PE1 NX_P78371 57488 535 6.01 12 Cytosol;Cytoplasm NA 0 PE1 NX_P78380 30959 273 6.94 12 Cytoplasmic vesicle;Nucleoplasm;Membrane raft;Cell membrane;Secreted NA 1 PE1 NX_P78381 41307 396 9.98 X Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2M 10 PE1 NX_P78382 36779 337 9.11 6 Golgi apparatus membrane Congenital disorder of glycosylation 2F 10 PE1 NX_P78383 35760 322 9.36 17 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Nucleus;Endoplasmic reticulum NA 8 PE1 NX_P78385 54195 493 5.54 12 NA Monilethrix;Erythrokeratodermia variabilis et progressiva 5 0 PE1 NX_P78386 55802 507 6.27 12 NA Ectodermal dysplasia 4, hair/nail type 0 PE1 NX_P78395 57890 509 6.44 22 Nucleus;Cell membrane NA 0 PE1 NX_P78396 52358 465 4.99 13 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_P78406 40968 368 7.96 20 Cytoplasm;Nucleolus;Nucleus;Spindle pole NA 0 PE1 NX_P78410 36428 334 5.23 6 Cell membrane NA 1 PE1 NX_P78411 50361 483 6.03 16 Cytosol;Nucleus speckle;Cytoskeleton;Nucleus Hamamy syndrome 0 PE1 NX_P78412 48240 446 5.81 16 Mitochondrion;Nucleus NA 0 PE2 NX_P78413 54445 519 5.84 5 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P78414 49621 480 5.78 5 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_P78415 52119 501 4.88 16 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_P78417 27566 241 6.24 10 Cytosol NA 0 PE1 NX_P78423 42203 397 6.08 16 Cell membrane;Secreted NA 1 PE1 NX_P78424 73265 691 7.31 7 Nucleus Hereditary susceptibility to Wilms tumor 5 0 PE1 NX_P78426 37849 367 9.46 4 Nucleoplasm;Nucleus NA 0 PE1 NX_P78504 133799 1218 5.7 20 Golgi apparatus;Cell membrane;Membrane Deafness, congenital heart defects, and posterior embryotoxon;Tetralogy of Fallot;Alagille syndrome 1 1 PE1 NX_P78508 42508 379 8.18 1 Basolateral cell membrane;Membrane Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 2 PE1 NX_P78509 388388 3460 5.54 7 Focal adhesion;Cell membrane;Extracellular matrix Epilepsy, familial temporal lobe, 7;Lissencephaly 2 0 PE1 NX_P78524 126485 1137 9.35 11 Nucleoplasm NA 0 PE1 NX_P78527 469089 4128 6.75 8 Nucleoplasm;Nucleolus;Nucleus Immunodeficiency 26 with or without neurologic abnormalities 0 PE1 NX_P78536 93021 824 5.5 2 Cytosol;Membrane Inflammatory skin and bowel disease, neonatal, 1 1 PE1 NX_P78537 17263 153 9.37 12 Mitochondrion matrix;Cytosol;Lysosome membrane;Mitochondrion intermembrane space NA 0 PE1 NX_P78539 51572 464 8.98 X Cell surface NA 0 PE1 NX_P78540 38578 354 6 14 Mitochondrion NA 0 PE1 NX_P78543 17416 158 8.29 1 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 NX_P78545 41454 371 5.52 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_P78549 34390 312 9.72 16 Mitochondrion;Nucleus Familial adenomatous polyposis 3 0 PE1 NX_P78552 48760 427 5.7 X Nucleoplasm;Golgi apparatus;Membrane NA 1 PE1 NX_P78556 10762 96 9.21 2 Secreted NA 0 PE1 NX_P78559 305485 2803 4.85 15 Cytosol;Cytoskeleton NA 0 PE1 NX_P78560 22745 199 6.32 12 Cytosol;Cytoplasm;Nucleus Mental retardation, autosomal recessive 34, with variant lissencephaly 0 PE1 NX_P78562 86474 749 8.91 X Cell membrane Hypophosphatemic rickets, X-linked dominant 1 PE1 NX_P78563 80763 741 9.11 21 Cytosol;Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P79483 29962 266 8.81 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 NX_P79522 20640 188 9.87 6 Cytosol;Nucleoplasm NA 0 PE1 NX_P80075 11246 99 9.47 17 Secreted NA 0 PE1 NX_P80098 11200 99 9.72 17 Secreted NA 0 PE1 NX_P80108 92336 840 5.91 6 Secreted NA 0 PE1 NX_P80162 11897 114 9.91 4 Secreted NA 0 PE1 NX_P80188 22588 198 9.02 9 Cytoplasmic granule lumen;Cytoplasmic vesicle lumen;Endoplasmic reticulum;Secreted NA 0 PE1 NX_P80192 121895 1104 5.63 14 Nucleolus;Nucleus NA 0 PE1 NX_P80217 31546 286 5.75 17 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_P80294 6039 61 8.49 16 NA NA 0 PE1 NX_P80297 6068 61 8.38 16 Cytoplasm;Nucleus NA 0 PE1 NX_P80303 50223 420 5.03 11 Golgi apparatus;Secreted;Cytoplasm;Nucleus envelope;Endoplasmic reticulum;Membrane NA 0 PE1 NX_P80365 44127 405 9.42 16 Cytoplasmic vesicle;Microsome;Endoplasmic reticulum Apparent mineralocorticoid excess 0 PE1 NX_P80370 41300 383 5.43 14 Cytoplasm;Golgi apparatus;Membrane NA 1 PE1 NX_P80404 56439 500 8.17 16 Mitochondrion matrix;Mitochondrion GABA transaminase deficiency 0 PE1 NX_P80511 10575 92 5.83 1 Cytoplasm;Cytoskeleton;Cell membrane;Secreted NA 0 PE1 NX_P80723 22693 227 4.64 5 Growth cone;Cell membrane NA 0 PE1 NX_P80748 12446 117 5.03 22 Cell membrane;Secreted NA 0 PE1 NX_P81133 85515 766 7.03 6 Nucleus speckle;Nucleus NA 0 PE1 NX_P81172 9408 84 9.24 19 Secreted Hemochromatosis 2B 0 PE1 NX_P81274 76662 684 5.97 1 Cytosol;Cytoplasm;Cell cortex;Spindle pole;Lateral cell membrane Chudley-McCullough syndrome 0 PE1 NX_P81277 9639 87 11.66 2 Secreted NA 0 PE1 NX_P81408 71355 668 8.87 1 Nucleoplasm;Membrane NA 4 PE1 NX_P81534 7697 67 10.15 8 Nucleus;Secreted NA 0 PE1 NX_P81605 11284 110 6.09 12 Secreted NA 0 PE1 NX_P81877 37828 361 6.16 5 Nucleoplasm;Nucleus NA 0 PE1 NX_P82094 122842 1093 4.88 3 Nucleus;Golgi apparatus membrane;Golgi apparatus;Cytoplasm NA 0 PE1 NX_P82251 53481 487 8.4 19 Apical cell membrane Cystinuria 12 PE1 NX_P82279 154183 1406 4.84 1 Cytoplasmic vesicle;Apical cell membrane;Secreted Retinitis pigmentosa 12;Pigmented paravenous chorioretinal atrophy;Leber congenital amaurosis 8 1 PE1 NX_P82650 41280 360 7.7 3 Mitochondrion Combined oxidative phosphorylation deficiency 5 0 PE1 NX_P82663 20116 173 8.99 3 Mitochondrion NA 0 PE1 NX_P82664 22999 201 7.78 6 Mitochondrion;Cytoskeleton NA 0 PE1 NX_P82673 36844 323 8.41 12 Mitochondrion;Cytosol NA 0 PE1 NX_P82675 48006 430 9.93 2 Mitochondrion NA 0 PE1 NX_P82909 11466 103 9.99 5 Mitochondrion NA 0 PE1 NX_P82912 20616 194 10.82 15 Mitochondrion NA 0 PE1 NX_P82914 29842 257 10.48 1 Mitochondrion NA 0 PE1 NX_P82921 10689 87 9.96 1 Mitochondrion NA 0 PE1 NX_P82930 25650 218 9.98 16 Mitochondrion Combined oxidative phosphorylation deficiency 32 0 PE1 NX_P82932 14227 125 9.3 21 Mitochondrion NA 0 PE1 NX_P82933 45835 396 9.54 2 Mitochondrion;Nucleolus NA 0 PE1 NX_P82970 31525 282 4.5 X Nucleus NA 0 PE1 NX_P82979 23671 210 6.1 12 Nucleus speckle;Nucleus NA 0 PE1 NX_P82980 15931 135 6.09 12 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus NA 0 PE1 NX_P82987 188692 1691 8.2 15 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 NX_P83105 50979 476 8.37 8 Secreted NA 0 PE1 NX_P83110 48608 453 6.71 4 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_P83111 60694 547 8.71 15 Mitochondrion NA 0 PE1 NX_P83369 39500 360 10.99 5 Nucleus NA 0 PE1 NX_P83436 86344 770 5.27 16 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2E 0 PE1 NX_P83731 17779 157 11.26 3 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_P83859 14941 136 10.25 9 Secreted NA 0 PE2 NX_P83876 16786 142 5.53 18 Cytosol;Nucleus;Nucleus membrane Burn-McKeown syndrome 0 PE1 NX_P83881 12441 106 10.59 X Cytoplasm NA 0 PE1 NX_P83916 21418 185 4.85 17 Nucleus NA 0 PE1 NX_P84022 48081 425 6.73 15 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Loeys-Dietz syndrome 3;Colorectal cancer 0 PE1 NX_P84074 22427 193 4.87 1 Cytosol;Membrane Dystonia 2, torsion, autosomal recessive 0 PE1 NX_P84077 20697 181 6.31 1 Synaptosome;trans-Golgi network membrane;Golgi apparatus;Cytosol;Cell membrane;Perinuclear region;Membrane;Postsynaptic density NA 0 PE1 NX_P84085 20530 180 6.3 7 Perinuclear region;trans-Golgi network membrane;Golgi apparatus;Membrane NA 0 PE1 NX_P84090 12259 104 5.62 14 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_P84095 21309 191 8.41 11 Cell membrane NA 0 PE1 NX_P84098 23466 196 11.48 17 Cytosol;Nucleolus;Endoplasmic reticulum NA 0 PE1 NX_P84101 6900 59 10.44 15 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P84103 19330 164 11.64 6 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_P84157 21466 204 4.24 17 Nucleus;Endoplasmic reticulum;Membrane NA 1 PE1 NX_P84243 15328 136 11.27 17 Nucleoplasm;Nucleus;Chromosome Glioma 0 PE1 NX_P84550 99831 965 6.11 15 Nucleus NA 0 PE1 NX_P84996 67948 626 11.55 20 Ruffle;Cell membrane Pseudohypoparathyroidism 1B;ACTH-independent macronodular adrenal hyperplasia 1;Colorectal cancer;GNAS hyperfunction 0 PE1 NX_P85037 75457 733 9.41 7 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_P85298 53484 464 9.45 22 Nucleus NA 0 PE1 NX_P85299 42753 388 8.31 22 NA NA 0 PE1 NX_P86397 18559 168 9.1 3 Mitochondrion;Nucleolus NA 0 PE1 NX_P86434 17238 159 6.18 22 NA NA 0 PE5 NX_P86452 109973 979 6.09 1 Nucleolus;Nucleus NA 0 PE1 NX_P86478 23262 221 5.85 13 NA NA 0 PE1 NX_P86479 23262 221 5.85 13 NA NA 0 PE1 NX_P86480 23262 221 5.85 13 NA NA 0 PE1 NX_P86481 23262 221 5.85 13 NA NA 0 PE3 NX_P86496 23262 221 5.85 13 NA NA 0 PE2 NX_P86790 55866 482 6.07 7 Cytoplasmic vesicle;Lysosome membrane NA 0 PE1 NX_P86791 55866 482 6.07 7 Cytoplasmic vesicle;Lysosome membrane NA 0 PE1 NX_P87889 74139 666 8.95 5 Cell membrane NA 0 PE1 NX_P98066 31203 277 6.3 2 NA NA 0 PE1 NX_P98073 112935 1019 4.89 21 Membrane Enterokinase deficiency 1 PE1 NX_P98077 61916 582 6.29 19 Cytosol NA 0 PE1 NX_P98082 82448 770 5.34 5 Nucleolus;Cytoplasm;Clathrin-coated pit;Clathrin-coated vesicle membrane;Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_P98088 585570 5654 6.71 11 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_P98095 126573 1184 4.73 3 Cell membrane;Extracellular matrix NA 0 PE1 NX_P98153 60811 550 5.11 22 Nucleoplasm;Nucleus;Membrane NA 1 PE1 NX_P98155 96098 873 4.62 9 Cytoplasmic vesicle;Cytoskeleton;Microtubule organizing center;Clathrin-coated pit;Membrane Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 1 PE1 NX_P98160 468830 4391 6.06 1 Cytosol;Nucleoplasm;Basement membrane;Cell membrane Dyssegmental dysplasia Silverman-Handmaker type;Schwartz-Jampel syndrome 0 PE1 NX_P98161 462529 4303 6.28 16 Endoplasmic reticulum;Golgi apparatus;Cilium;Cell membrane Polycystic kidney disease 1 with or without polycystic liver disease 11 PE1 NX_P98164 521958 4655 4.89 2 Axon;Apical cell membrane;Cytoplasmic vesicle;Dendrite;Coated pit;Endosome lumen;Mitochondrion Donnai-Barrow syndrome 1 PE1 NX_P98168 84771 799 7.35 X Nucleus NA 0 PE1 NX_P98169 84792 803 6.46 X Nucleus NA 0 PE1 NX_P98170 56685 497 6.22 X Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm Lymphoproliferative syndrome, X-linked, 2 0 PE1 NX_P98171 105026 946 5.96 X Nucleoplasm;Cytoplasm;Focal adhesion NA 0 PE1 NX_P98172 38007 346 9.1 X Nucleus;Membrane raft;Cell membrane Craniofrontonasal syndrome 1 PE1 NX_P98173 25152 230 8.9 X Nucleolus;Nucleus;Endoplasmic reticulum;Secreted NA 0 PE1 NX_P98174 106561 961 6.14 X Ruffle;Cytosol;Cytoplasm;Cell membrane;Lamellipodium;Cytoskeleton Aarskog-Scott syndrome 0 PE1 NX_P98175 103533 930 5.69 X Nucleus speckle;Nucleus TARP syndrome 0 PE1 NX_P98177 53684 505 5.13 X Cytosol;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 NX_P98179 17170 157 8.86 X Nucleoplasm;Cytoplasm;Nucleus;Dendrite NA 0 PE1 NX_P98182 45534 395 8.64 16 Mitochondrion;Nucleus NA 0 PE1 NX_P98187 59995 520 8.73 19 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_P98194 100577 919 6.34 3 Golgi apparatus membrane;Golgi apparatus Hailey-Hailey disease 10 PE1 NX_P98196 129756 1134 6.17 13 Cytoplasmic vesicle;Recycling endosome;Cell membrane;Endoplasmic reticulum;Early endosome NA 10 PE1 NX_P98198 137440 1209 6.57 1 Endoplasmic reticulum membrane;Cell membrane NA 10 PE1 NX_P99999 11749 105 9.59 7 Mitochondrion;Nucleus;Mitochondrion intermembrane space Thrombocytopenia 4 0 PE1 NX_Q00005 51710 443 6.01 5 Mitochondrion;Cytoplasm;Cytoskeleton;Membrane;Mitochondrion outer membrane Spinocerebellar ataxia 12 0 PE1 NX_Q00013 52296 466 6.91 X Nucleus speckle;Nucleolus;Cytosol;Cytoplasm;Stereocilium;Cell membrane;Nucleus NA 0 PE1 NX_Q00056 34499 320 9.95 7 Nucleus NA 0 PE1 NX_Q00059 29097 246 9.74 10 Mitochondrion;Mitochondrion nucleoid Mitochondrial DNA depletion syndrome 15, hepatocerebral type 0 PE1 NX_Q00169 31806 270 6.12 17 Cytoplasm NA 0 PE1 NX_Q00266 43648 395 5.86 10 NA Methionine adenosyltransferase deficiency 0 PE1 NX_Q00325 40095 362 9.45 12 Mitochondrion;Mitochondrion inner membrane Mitochondrial phosphate carrier deficiency 6 PE1 NX_Q00341 141456 1268 6.43 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q00403 34833 316 8.67 1 Nucleus;Chromosome NA 0 PE1 NX_Q00444 24976 222 9.57 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q00526 35046 305 8.86 17 Cytosol NA 0 PE1 NX_Q00532 41803 358 9.04 14 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q00534 36938 326 6.02 7 Ruffle;Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Centrosome Microcephaly 12, primary, autosomal recessive 0 PE1 NX_Q00535 33304 292 7.57 7 Perikaryon;Cytoplasm;Cell membrane;Growth cone;Nucleus;Postsynaptic density;Lamellipodium;Cell junction Lissencephaly 7, with cerebellar hypoplasia 0 PE1 NX_Q00536 55716 496 7.23 X Synaptosome;Cytosol;Cytoplasm;Cell membrane;Secretory vesicle;Cytoskeleton NA 0 PE1 NX_Q00537 59582 523 9.1 12 Nucleoplasm;Cytosol NA 0 PE1 NX_Q00577 34911 322 6.07 5 Nucleus Mental retardation, autosomal dominant 31 0 PE1 NX_Q00587 40295 391 6.64 22 Cytoskeleton;Cell membrane;Endomembrane system NA 0 PE1 NX_Q00597 63429 558 5.77 9 Nucleoplasm;Cytoplasm;Nucleus Fanconi anemia complementation group C 0 PE1 NX_Q00604 15044 133 9.17 X Cytoplasmic vesicle;Nucleolus;Nucleus;Secreted Vitreoretinopathy, exudative 2;Norrie disease 0 PE1 NX_Q00610 191615 1675 5.48 17 Melanosome;Cytosol;Cytoplasmic vesicle;Coated pit;Spindle;Cytoplasmic vesicle membrane Mental retardation, autosomal dominant 56 0 PE1 NX_Q00613 57260 529 5.02 8 Kinetochore;Cytosol;Cytoplasm;Centrosome;Nucleoplasm;Perinuclear region;Nucleus;Spindle pole NA 0 PE1 NX_Q00653 96749 900 5.84 10 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Immunodeficiency, common variable, 10 0 PE1 NX_Q00688 25177 224 9.29 14 Cytosol;Nucleus NA 0 PE1 NX_Q00722 134024 1185 5.96 15 Cytosol NA 0 PE1 NX_Q00765 21493 189 8.25 5 Endoplasmic reticulum;Membrane NA 2 PE1 NX_Q00796 38325 357 8.23 15 Cytosol;Flagellum;Mitochondrion membrane NA 0 PE1 NX_Q00839 90584 825 5.76 1 Kinetochore;Nucleus speckle;Cytoplasmic granule;Nucleoplasm;Cytoplasm;Centrosome;Midbody;Nucleus;Cell surface;Nucleus matrix;Spindle;Spindle pole;Chromosome Epileptic encephalopathy, early infantile, 54 0 PE1 NX_Q00872 128294 1141 5.78 12 Cytoplasm Lethal congenital contracture syndrome 4;Arthrogryposis, distal, 1B 0 PE1 NX_Q00887 48272 426 8.27 19 Secreted NA 0 PE1 NX_Q00888 47113 419 9.34 19 Secreted NA 0 PE1 NX_Q00889 48814 435 8.86 19 Secreted NA 0 PE1 NX_Q008S8 104880 904 8.65 6 NA NA 0 PE2 NX_Q00973 58882 533 8.93 12 Golgi apparatus membrane Spastic paraplegia 26, autosomal recessive 1 PE1 NX_Q00975 262496 2339 8.78 9 Membrane Dystonia 23 24 PE1 NX_Q00978 43696 393 5.58 14 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q00987 55233 491 4.6 12 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q00994 12958 111 5.31 X Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q00G26 50791 463 5.08 19 Mitochondrion;Cytoplasm;Lipid droplet NA 0 PE1 NX_Q00LT1 6007 54 7.96 17 Cytoplasm;Endoplasmic reticulum;Golgi apparatus;Secreted Retinitis pigmentosa 36 0 PE1 NX_Q01064 61380 536 5.33 12 Cytoplasm NA 0 PE1 NX_Q01081 27872 240 9.09 21 Nucleoplasm;Nucleus speckle;Nucleus Myelodysplastic syndrome 0 PE1 NX_Q01082 274609 2364 5.39 2 Cytoplasm;Cytoskeleton;M line;Golgi apparatus;Cell membrane NA 0 PE1 NX_Q01085 41591 375 7.62 10 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytoplasmic granule NA 0 PE1 NX_Q01094 46920 437 4.79 20 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q01101 52923 510 9.19 20 Nucleus NA 0 PE1 NX_Q01105 33489 290 4.23 9 Nucleoplasm;Cytosol;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q01113 57147 521 5.27 X Cell membrane;Secreted NA 1 PE1 NX_Q01118 193493 1682 8.26 2 Cell membrane NA 24 PE1 NX_Q01130 25476 221 11.86 17 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_Q01151 23042 205 8.45 6 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q01167 69062 660 9.56 17 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_Q01196 48737 453 9.4 21 Cytoplasmic vesicle;Nucleoplasm;Nucleus Familial platelet disorder with associated myeloid malignancy 0 PE1 NX_Q01201 62134 579 5.84 19 Cytosol;Nucleoplasm;Nucleus;Centrosome Immunodeficiency 53 0 PE1 NX_Q01344 47685 420 5.36 3 Membrane NA 1 PE1 NX_Q01362 26534 244 5.05 11 Membrane NA 4 PE1 NX_Q01415 50378 458 6.19 15 Nucleoplasm;Cytosol NA 0 PE1 NX_Q01432 88812 767 6.51 11 Nucleus membrane Adenosine monophosphate deaminase deficiency erythrocyte type 0 PE1 NX_Q01433 100688 879 6.46 1 Cytosol Spastic paraplegia 63, autosomal recessive;Pontocerebellar hypoplasia 9 0 PE1 NX_Q01449 19448 175 4.83 7 NA NA 0 PE1 NX_Q01453 17891 160 7.75 17 Cell membrane Charcot-Marie-Tooth disease 1A;Hereditary neuropathy with liability to pressure palsies;Charcot-Marie-Tooth disease 1E;Inflammatory demyelinating polyneuropathy;Dejerine-Sottas syndrome 4 PE1 NX_Q01459 43760 385 6.19 1 Cytosol;Lysosome NA 0 PE1 NX_Q01469 15164 135 6.6 8 Synapse;Secreted;Cytosol;Cytoplasm;Cell membrane;Nucleus;Postsynaptic density NA 0 PE1 NX_Q01484 433715 3957 5.03 4 Apical cell membrane;Lysosome;Early endosome;Cell membrane;T-tubule;Postsynaptic cell membrane;Membrane;Mitochondrion;Cytoskeleton;M line;Recycling endosome;Z line Long QT syndrome 4 0 PE1 NX_Q01518 51901 475 8.24 1 Cytosol;Cell membrane NA 0 PE1 NX_Q01523 10071 94 8.3 8 Secretory vesicle;Secreted NA 0 PE1 NX_Q01524 10975 100 5.21 8 Secreted NA 0 PE1 NX_Q01534 35012 308 5.29 Y Cytoplasm;Nucleus NA 0 PE1 NX_Q01538 122329 1121 4.81 20 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q01543 50982 452 6.57 11 Nucleus Bleeding disorder, platelet-type 21;Ewing sarcoma 0 PE1 NX_Q01546 65841 638 8.38 12 NA NA 0 PE1 NX_Q01581 57294 520 5.22 5 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q01628 14632 133 6.49 11 Lysosome membrane;Endosome;Late endosome membrane;Cell membrane NA 1 PE1 NX_Q01629 14632 132 6.89 11 Cell membrane NA 1 PE1 NX_Q01638 63358 556 8.63 2 Cytoplasmic vesicle;Cell membrane;Secreted NA 1 PE1 NX_Q01650 55010 507 7.9 16 Cytosol;Cytoplasmic vesicle;Apical cell membrane;Cell membrane NA 12 PE1 NX_Q01658 19444 176 4.69 1 Nucleus NA 0 PE1 NX_Q01664 38726 338 5.63 16 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 NX_Q01668 245141 2161 6.32 3 Nucleus membrane;Membrane Sinoatrial node dysfunction and deafness;Primary aldosteronism, seizures, and neurologic abnormalities 24 PE1 NX_Q01718 33927 297 9.02 18 Cell membrane Glucocorticoid deficiency 1 7 PE1 NX_Q01726 34706 317 8.78 16 Cell membrane Melanoma, cutaneous malignant 5 7 PE1 NX_Q01740 60311 532 6.8 1 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_Q01780 100831 885 8.68 1 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q01804 124045 1114 6.25 4 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q01813 85596 784 7.5 10 Cytosol;Cytoplasm NA 0 PE1 NX_Q01814 136876 1243 5.66 3 Synapse;Cell membrane NA 10 PE1 NX_Q01826 85957 763 6.1 3 Nucleoplasm;PML body;Nucleus;Nucleus matrix NA 0 PE1 NX_Q01831 105953 940 9.03 3 Cytoplasm;Nucleus;Cell membrane Xeroderma pigmentosum complementation group C 0 PE1 NX_Q01844 68478 656 9.37 22 Cytoplasm;Nucleolus;Nucleus;Cell membrane Angiomatoid fibrous histiocytoma;Ewing sarcoma 0 PE1 NX_Q01850 51855 454 5.01 16 Nucleoplasm NA 0 PE1 NX_Q01851 42697 419 9.15 13 Cytoplasm;Nucleus NA 0 PE2 NX_Q01860 38571 360 5.69 6 Cytoplasm;Nucleus NA 0 PE1 NX_Q01892 28819 262 5.35 19 Cytoplasm;Nucleus NA 0 PE1 NX_Q01954 110972 994 7 15 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q01955 161813 1670 9.28 2 Cytoplasmic vesicle;Basement membrane;Endoplasmic reticulum Alport syndrome, autosomal dominant;Hematuria, benign familial;Alport syndrome, autosomal recessive 0 PE1 NX_Q01959 68495 620 6.46 5 Cytoplasmic vesicle;Cell membrane Parkinsonism-dystonia infantile 12 PE1 NX_Q01968 104205 901 6.13 X Endosome;Photoreceptor outer segment;Cytosol;Early endosome membrane;Clathrin-coated pit;Cytoplasmic vesicle;trans-Golgi network;Phagosome membrane;Cytoskeleton;Cilium Dent disease 2;Lowe oculocerebrorenal syndrome 0 PE1 NX_Q01970 138799 1234 5.68 11 Nucleoplasm;Membrane NA 0 PE1 NX_Q01973 104283 937 6.76 1 Axon;Cytoskeleton;Membrane Deafness, autosomal recessive, 108 1 PE1 NX_Q01974 104757 943 6.1 9 Cell membrane Brachydactyly B1;Robinow syndrome autosomal recessive 1 PE1 NX_Q01995 22611 201 8.87 11 Cytosol;Cytoplasm;Cytoskeleton;Mitochondrion NA 0 PE1 NX_Q02040 80735 695 9.76 X Cytosol;Nucleus speckle NA 0 PE1 NX_Q02045 19534 173 4.87 4 Nucleolus;Nucleus NA 0 PE1 NX_Q02078 54811 507 7.72 15 Nucleoplasm;Nucleus Coronary artery disease, autosomal dominant, 1 0 PE1 NX_Q02080 38639 365 9.58 19 Nucleus NA 0 PE1 NX_Q02083 40066 359 8.88 4 Lysosome NA 0 PE1 NX_Q02086 64900 613 9.95 17 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_Q02094 44198 409 6.35 6 Endoplasmic reticulum;Membrane Overhydrated hereditary stomatocytosis;Regulator type Rh-null hemolytic anemia 12 PE1 NX_Q02108 77452 690 6.75 4 Cytoplasm;Nucleus Moyamoya disease 6 with achalasia 0 PE1 NX_Q02127 42867 395 9.66 16 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane Postaxial acrofacial dysostosis 1 PE1 NX_Q02153 70514 619 5.2 4 Cytosol;Cytoplasm NA 0 PE1 NX_Q02156 83674 737 6.73 2 Cytoplasm;Cell membrane;Cytoplasmic vesicle;Perinuclear region;Nucleus;Cytoskeleton NA 0 PE1 NX_Q02161 45211 417 8.71 1 Cytoplasm;Cell membrane NA 11 PE1 NX_Q02218 115935 1023 6.39 7 Mitochondrion;Mitochondrion matrix;Nucleus NA 0 PE1 NX_Q02221 10815 97 10.91 16 Mitochondrion inner membrane NA 0 PE1 NX_Q02223 20165 184 5.24 16 Cell membrane;Endomembrane system NA 1 PE1 NX_Q02224 316415 2701 5.51 4 Kinetochore;Cytosol;Nucleoplasm;Cytoskeleton;Centromere;Spindle Microcephaly 13, primary, autosomal recessive 0 PE1 NX_Q02241 110059 960 8.76 15 Nucleoplasm;Midbody ring;Spindle;Nucleus NA 0 PE1 NX_Q02246 113393 1040 8.11 1 Cell membrane Epilepsy, familial adult myoclonic, 5 0 PE1 NX_Q02252 57840 535 8.72 14 Mitochondrion Methylmalonate semialdehyde dehydrogenase deficiency 0 PE1 NX_Q02297 70392 640 9 8 Nucleoplasm;Membrane;Nucleus;Cell membrane;Secreted NA 1 PE1 NX_Q02318 60235 531 9.05 2 Mitochondrion;Mitochondrion membrane Cerebrotendinous xanthomatosis 0 PE1 NX_Q02325 10971 96 6.11 2 Secreted NA 0 PE3 NX_Q02338 38157 343 9.1 3 Mitochondrion;Mitochondrion matrix;Mitochondrion inner membrane NA 0 PE1 NX_Q02363 14917 134 7.82 2 Nucleoplasm;Cytoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q02383 65444 582 9.09 20 Secreted NA 0 PE1 NX_Q02386 78242 682 8.98 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q02388 295220 2944 5.95 3 Basement membrane Epidermolysis bullosa dystrophica, autosomal recessive;Epidermolysis bullosa dystrophica, with subcorneal cleavage;Epidermolysis bullosa dystrophica, autosomal dominant;Epidermolysis bullosa dystrophica, pretibial type;Epidermolysis bullosa pruriginosa;Epidermolysis bullosa dystrophica, Bart type;Nail disorder, non-syndromic congenital, 8;Transient bullous dermolysis of the newborn 0 PE1 NX_Q02410 92865 837 4.84 9 Cytoplasm;Perinuclear region;Nucleus;Golgi apparatus NA 0 PE1 NX_Q02413 113748 1049 4.9 18 Desmosome;Cell membrane Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE;Palmoplantar keratoderma 1, striate, focal, or diffuse 1 PE1 NX_Q02446 81985 784 6.61 7 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q02447 81925 781 5.09 2 PML body;Nucleus NA 0 PE1 NX_Q02487 99962 901 5.19 18 Desmosome;Cell membrane Arrhythmogenic right ventricular dysplasia, familial, 11 1 PE1 NX_Q02505 345127 3323 5.14 7 Secreted;Membrane NA 1 PE1 NX_Q02509 51728 477 4.76 8 Secreted NA 0 PE2 NX_Q02535 12999 119 5.55 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q02539 21842 215 10.99 6 Nucleus;Chromosome NA 0 PE1 NX_Q02543 20762 176 10.72 19 Cytosol;Nucleolus NA 0 PE1 NX_Q02548 42149 391 9.08 9 Cytoplasmic vesicle;Cytosol;Nucleus;Nucleoplasm Leukemia, acute lymphoblastic, 3 0 PE1 NX_Q02556 48356 426 6.38 16 Nucleoplasm;Cytoplasm;Nucleus Immunodeficiency 32B;Immunodeficiency 32A 0 PE1 NX_Q02575 14618 133 9.06 1 Nucleus;Golgi apparatus NA 0 PE2 NX_Q02577 15018 135 7.91 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q02641 65714 598 6.33 17 Cell membrane;Sarcolemma NA 0 PE1 NX_Q02643 47402 423 6.26 7 Cell membrane Growth hormone deficiency, isolated, 1B 7 PE1 NX_Q02742 49799 428 8.65 9 Nucleus speckle;Golgi apparatus membrane NA 1 PE1 NX_Q02747 12388 115 4.56 1 Secreted NA 0 PE1 NX_Q02750 43439 393 6.18 15 Cytosol;Cytoplasm;Cell membrane;Spindle pole body;Nucleus;Membrane;Centrosome Cardiofaciocutaneous syndrome 3 0 PE1 NX_Q02763 125830 1124 6.46 9 Secreted;Cell membrane;Microtubule organizing center;Focal adhesion;Cytoskeleton;Cell junction Dominantly inherited venous malformations;Glaucoma 3, primary congenital, E 1 PE1 NX_Q02779 103694 954 6.56 19 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 NX_Q02790 51805 459 5.35 12 Cytosol;Axon;Nucleoplasm;Nucleus;Mitochondrion;Cytoskeleton NA 0 PE1 NX_Q02809 83550 727 6.46 1 Cytoplasmic vesicle;Nucleoplasm;Rough endoplasmic reticulum membrane Ehlers-Danlos syndrome, kyphoscoliotic type, 1 0 PE1 NX_Q02817 540300 5179 5.49 11 Secreted NA 0 PE1 NX_Q02818 53879 461 5.15 19 Cytoplasm;Cytoskeleton;cis-Golgi network membrane;Golgi apparatus;Secreted NA 0 PE1 NX_Q02833 39945 373 5.5 11 Centrosome;Microtubule organizing center NA 0 PE1 NX_Q02846 120059 1103 7.15 17 Membrane Leber congenital amaurosis 1;Cone-rod dystrophy 6;Choroidal dystrophy, central areolar, 1 1 PE1 NX_Q02878 32728 288 10.59 12 Cytosol;Cytoplasm;Cytoskeleton;Rough endoplasmic reticulum NA 0 PE1 NX_Q02880 183267 1626 8.14 3 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q02928 59348 519 8.96 1 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_Q02930 56918 508 8.76 7 Cytoplasmic vesicle;Nucleus;Cell membrane NA 0 PE1 NX_Q02952 191482 1782 4.37 6 Cytosol;Cytoplasm;Cell cortex;Cell membrane;Membrane;Cytoskeleton NA 0 PE1 NX_Q02962 44706 417 7.25 10 Nucleolus;Nucleus;Golgi apparatus Papillorenal syndrome;Focal segmental glomerulosclerosis 7 0 PE1 NX_Q02978 34062 314 9.92 17 Mitochondrion inner membrane NA 6 PE1 NX_Q02985 37323 330 7.72 1 Secreted Hemolytic uremic syndrome atypical 1 0 PE1 NX_Q03001 860662 7570 5.14 6 Endoplasmic reticulum membrane;Stress fiber;Cytosol;Hemidesmosome;H zone;Nucleus envelope;Cell membrane;Axon;Nucleus;Cell cortex;Membrane;Cytoskeleton;Z line Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, 6 0 PE1 NX_Q03013 25561 218 5.6 1 Cytoplasm NA 0 PE1 NX_Q03014 30022 270 6.72 10 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q03052 45496 451 7.29 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q03060 37006 345 5.4 10 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_Q03111 62056 559 8.75 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q03112 138136 1230 6 3 Nucleus speckle;Nucleus Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0 PE1 NX_Q03113 44279 381 9.84 7 Cytosol;Cytoplasm;Cell membrane;Lateral cell membrane NA 0 PE1 NX_Q03135 20472 178 5.64 7 Golgi apparatus;Cytoplasm;Cell membrane;Nucleus;trans-Golgi network;Caveola;Golgi apparatus membrane;Membrane raft Congenital generalized lipodystrophy 3;Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome;Pulmonary hypertension, primary, 3 0 PE1 NX_Q03154 45885 408 5.77 3 Cytoplasm Aminoacylase-1 deficiency 0 PE1 NX_Q03164 431764 3969 9.22 11 Nucleoplasm;Cytosol;Nucleus Wiedemann-Steiner syndrome 0 PE1 NX_Q03167 93499 851 5.45 1 Cytosol;Extracellular space;Cell membrane;Secreted NA 1 PE1 NX_Q03169 72661 654 6.06 14 Cytosol;Nucleus;Nucleus membrane;Golgi apparatus NA 0 PE1 NX_Q03181 49903 441 7.53 6 Nucleus NA 0 PE1 NX_Q03188 106834 943 9.43 4 Kinetochore;Centromere;Nucleus NA 0 PE1 NX_Q03252 69948 620 5.5 19 Nucleus inner membrane;Nucleus membrane Partial acquired lipodystrophy;Epilepsy, progressive myoclonic 9 0 PE1 NX_Q03393 16386 145 6.2 11 Cytosol Hyperphenylalaninemia, BH4-deficient, A 0 PE1 NX_Q03395 37205 351 5.65 11 Cytosol;Cell membrane;Membrane Retinitis pigmentosa 7 4 PE1 NX_Q03403 14284 129 5.51 21 Secreted NA 0 PE1 NX_Q03405 36978 335 6.19 19 Invadopodium membrane;Cell membrane;Secreted NA 0 PE1 NX_Q03426 42451 396 6.02 12 Cytoplasm;Peroxisome Porokeratosis 3, multiple types;Mevalonic aciduria;Hyperimmunoglobulinemia D and periodic fever syndrome 0 PE1 NX_Q03431 66361 593 8.25 3 Cell membrane Jansen metaphyseal chondrodysplasia;Enchondromatosis multiple;Eiken skeletal dysplasia;Primary failure of tooth eruption;Chondrodysplasia Blomstrand type 7 PE1 NX_Q03468 168416 1493 8.28 10 Nucleus De Sanctis-Cacchione syndrome;Cockayne syndrome B;UV-sensitive syndrome 1;Macular degeneration, age-related, 5;Cerebro-oculo-facio-skeletal syndrome 1 0 PE1 NX_Q03518 87218 808 8.24 6 Endoplasmic reticulum membrane;Endoplasmic reticulum;Microtubule organizing center Bare lymphocyte syndrome 1 10 PE1 NX_Q03519 75664 686 8.24 6 Endoplasmic reticulum membrane;Nucleus speckle;Endoplasmic reticulum Bare lymphocyte syndrome 1 9 PE1 NX_Q03591 37651 330 7.39 1 Secreted Hemolytic uremic syndrome atypical 1 0 PE1 NX_Q03692 66158 680 9.68 6 Endoplasmic reticulum;Extracellular matrix Schmid type metaphyseal chondrodysplasia 0 PE1 NX_Q03701 120974 1054 5.65 2 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q03721 69767 635 6.56 1 Cytosol;Nucleolus;Membrane NA 6 PE1 NX_Q03828 47800 476 9.12 2 Nucleus NA 0 PE2 NX_Q03923 68736 595 9.45 19 Nucleus NA 0 PE1 NX_Q03924 56376 483 9.46 7 Cytosol;Nucleolus;Nucleus NA 0 PE2 NX_Q03933 60348 536 4.7 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q03936 68487 586 9.4 7 Nucleus NA 0 PE1 NX_Q03938 69058 601 9.36 19 Nucleus;Golgi apparatus NA 0 PE1 NX_Q03989 64074 594 9.34 2 Nucleolus;Nucleus NA 0 PE1 NX_Q04118 30980 309 10.8 12 Secreted NA 0 PE1 NX_Q04206 60219 551 5.46 11 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q04323 33325 297 5.23 11 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q04446 80474 702 5.87 3 Cytosol;Nucleoplasm Glycogen storage disease 4;Polyglucosan body neuropathy, adult form 0 PE1 NX_Q04609 84331 750 6.5 11 Cytoplasm;Cell membrane NA 1 PE1 NX_Q04637 175491 1599 5.25 3 Cytosol Parkinson disease 18 0 PE1 NX_Q04656 163373 1500 5.92 X trans-Golgi network membrane;Golgi apparatus;Cytosol;Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane Distal spinal muscular atrophy, X-linked, 3;Occipital horn syndrome;Menkes disease 8 PE1 NX_Q04671 92850 838 6.84 15 Melanosome membrane Albinism, oculocutaneous, 2 12 PE1 NX_Q04695 48106 432 4.97 17 Cytoplasm Steatocystoma multiplex;Pachyonychia congenita 2 0 PE1 NX_Q04721 265405 2471 4.95 1 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane Hajdu-Cheney syndrome;Alagille syndrome 2 1 PE1 NX_Q04724 83201 770 6.79 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q04725 79841 743 6.16 19 Focal adhesion;Nucleus NA 0 PE1 NX_Q04726 83417 772 6.72 15 Nucleoplasm;Nucleus NA 0 PE1 NX_Q04727 83755 773 7.2 9 Nucleus NA 0 PE1 NX_Q04741 28039 257 9.85 2 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q04743 28303 252 9.83 10 Nucleus Schizencephaly 0 PE1 NX_Q04756 70682 655 6.99 4 Secreted NA 0 PE1 NX_Q04759 81865 706 7.69 10 Cytoplasm;Cell membrane;Microtubule organizing center NA 0 PE1 NX_Q04760 20778 184 5.12 6 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 NX_Q04771 57153 509 7.12 2 Cytosol;Nucleolus;Membrane Fibrodysplasia ossificans progressiva 1 PE1 NX_Q04826 40505 362 6.09 6 Membrane NA 1 PE1 NX_Q04828 36788 323 8.02 10 Cytoplasm NA 0 PE1 NX_Q04837 17260 148 9.59 7 Mitochondrion;Mitochondrion nucleoid NA 0 PE1 NX_Q04844 54697 493 5.15 17 Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 4B, fast-channel;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency;Myasthenic syndrome, congenital, 4A, slow-channel 4 PE1 NX_Q04864 68520 619 5.56 2 Nucleus NA 0 PE1 NX_Q04900 20917 197 8.3 6 Endosome;Lysosome membrane;Secreted;Cell membrane;Endosome membrane;Endoplasmic reticulum Deafness, autosomal dominant, 66 1 PE1 NX_Q04912 152241 1400 6.09 3 Cytosol;Membrane Nasopharyngeal carcinoma, 3 1 PE1 NX_Q04917 28219 246 4.76 22 Cytoplasm NA 0 PE1 NX_Q04941 16691 152 6.8 X Membrane NA 4 PE1 NX_Q05048 48358 431 6.12 20 Nucleoplasm;Nucleus NA 0 PE1 NX_Q05066 23884 204 9.55 Y Cytoplasm;Nucleus;Nucleus speckle 46,XX sex reversal 1;46,XY sex reversal 1 0 PE1 NX_Q05084 54645 483 5.55 7 Synaptic vesicle membrane;Cytosol;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus membrane;Secretory vesicle membrane NA 0 PE1 NX_Q05086 100688 875 5.12 15 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Angelman syndrome 0 PE1 NX_Q05193 97408 864 6.73 9 Nucleoplasm;Cytoplasm;Cytoskeleton Epileptic encephalopathy, early infantile, 31 0 PE1 NX_Q05195 25254 221 8.68 2 Mitochondrion;Nucleoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q05209 88106 780 5.4 7 Cytosol;Cytoplasm;Focal adhesion;Podosome;Cell membrane NA 0 PE1 NX_Q05215 61623 589 8.74 2 Nucleus NA 0 PE2 NX_Q05315 16453 142 6.83 19 Cytosol;Cytoplasmic granule NA 0 PE1 NX_Q05329 65411 585 6.45 10 Cytosol;Cytoplasmic vesicle;Golgi apparatus membrane;Presynaptic cell membrane NA 0 PE1 NX_Q05397 119233 1052 6.19 8 Cytosol;Cell cortex;Cell membrane;Cytoplasmic vesicle;Focal adhesion;Nucleus;Cytoskeleton;Centrosome NA 0 PE1 NX_Q05469 116598 1076 6.25 19 Cytosol;Caveola;Cell membrane Lipodystrophy, familial partial, 6 0 PE1 NX_Q05481 137217 1191 9.45 19 Nucleus NA 0 PE1 NX_Q05513 67660 592 5.49 1 Endosome;Cytosol;Cytoplasm;Cell membrane;Membrane;Cell junction NA 0 PE1 NX_Q05516 74274 673 6.02 11 Nuclear body;Nucleus Skeletal defects, genital hypoplasia, and mental retardation 0 PE1 NX_Q05519 53542 484 10.52 1 Nucleus speckle;Nucleus NA 0 PE1 NX_Q05586 105373 938 9.03 9 Postsynaptic density;Postsynaptic cell membrane;Cell membrane Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 3 PE1 NX_Q05639 50470 463 9.11 20 Nucleus Epileptic encephalopathy, early infantile, 33;Mental retardation, autosomal dominant 38 0 PE1 NX_Q05655 77505 676 7.93 3 Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Endoplasmic reticulum Autoimmune lymphoproliferative syndrome 3 0 PE1 NX_Q05682 93231 793 5.62 7 Cytoskeleton;Myofibril;Cell membrane;Stress fiber NA 0 PE1 NX_Q05707 193515 1796 5.16 8 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 NX_Q05823 83533 741 6.2 1 Cytosol;Cytoplasm;Mitochondrion Prostate cancer, hereditary, 1 0 PE1 NX_Q05901 52729 458 8.15 8 Postsynaptic cell membrane;Cell membrane NA 4 PE2 NX_Q05923 34400 314 8.24 2 Nucleus;Nucleus membrane NA 0 PE1 NX_Q05925 40115 392 9.55 2 Nucleolus;Nucleus NA 0 PE1 NX_Q05932 64609 587 8.17 9 Mitochondrion matrix;Cytoplasm;Mitochondrion inner membrane NA 0 PE1 NX_Q05940 55713 514 5.69 10 Cytoplasmic vesicle membrane Parkinsonism-dystonia, infantile, 2 12 PE1 NX_Q05952 15641 138 11.59 16 Nucleus;Chromosome NA 0 PE1 NX_Q05996 82357 745 6 16 Cell membrane;Extracellular matrix NA 1 PE1 NX_Q05BQ5 70547 628 7.96 17 Cytosol;Nucleus NA 0 PE1 NX_Q05BU3 4003 40 11.83 3 NA NA 0 PE5 NX_Q05BV3 219427 1969 7.87 14 Cytoskeleton NA 0 PE1 NX_Q05C16 66309 580 9.26 13 Golgi apparatus NA 0 PE2 NX_Q05D32 52999 466 6.03 15 Nucleoplasm NA 0 PE1 NX_Q05D60 70977 604 5.87 11 Cytoplasm NA 0 PE1 NX_Q05DH4 116621 1040 4.76 4 Cytosol NA 0 PE1 NX_Q06033 99849 890 5.49 3 Secreted NA 0 PE1 NX_Q06055 14637 141 9.26 12 Mitochondrion membrane NA 2 PE1 NX_Q06124 68436 597 6.87 12 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus;Nucleus Metachondromatosis;Leukemia, juvenile myelomonocytic;LEOPARD syndrome 1;Noonan syndrome 1 0 PE1 NX_Q06136 36187 332 6.75 18 Endoplasmic reticulum membrane Erythrokeratodermia variabilis et progressiva 4 2 PE1 NX_Q06141 19395 175 7.56 2 Secreted NA 0 PE1 NX_Q06187 76281 659 7.83 X Cytoplasmic vesicle;Cytoplasm;Nucleus;Cell membrane X-linked agammaglobulinemia;X-linked hypogammaglobulinemia and isolated growth hormone deficiency 0 PE1 NX_Q06190 130278 1150 5.09 3 Golgi apparatus NA 0 PE1 NX_Q06203 57399 517 6.3 4 Midbody ring NA 0 PE1 NX_Q06210 78806 699 6.66 2 Nucleolus;Nucleus Myasthenic syndrome, congenital, 12 0 PE1 NX_Q06250 10039 92 11.65 11 NA NA 0 PE5 NX_Q06265 48949 439 5.19 4 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Pontocerebellar hypoplasia 1D 0 PE1 NX_Q06278 147918 1338 6.79 2 Cytoplasm NA 0 PE1 NX_Q06323 28723 249 5.78 14 NA NA 0 PE1 NX_Q06330 55637 500 6.8 4 Nucleoplasm;Cytoplasm;Nucleus Adams-Oliver syndrome 3 0 PE1 NX_Q06413 51221 473 8.14 5 Cytoplasmic vesicle;Nucleoplasm;Sarcoplasm;Nucleus Mental retardation, autosomal dominant 20 0 PE1 NX_Q06416 38588 359 6.26 8 Nucleus NA 0 PE5 NX_Q06418 96905 890 5.47 15 Cell membrane NA 1 PE1 NX_Q06432 25028 222 6.64 17 Sarcolemma NA 4 PE1 NX_Q06455 67566 604 8.15 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q06481 86956 763 4.73 11 Cytoplasmic vesicle;Nucleus;Cell membrane NA 1 PE1 NX_Q06495 68937 639 8.99 5 Nucleus speckle;Spindle;Apical cell membrane;Cell membrane Hypercalcemia, infantile, 2;Fanconi renotubular syndrome 2;Nephrolithiasis/osteoporosis, hypophosphatemic, 1 8 PE1 NX_Q06520 33780 285 5.71 19 Cytosol;Cytoplasm NA 0 PE1 NX_Q06546 51295 454 4.87 21 Nucleoplasm;Nucleus NA 0 PE1 NX_Q06547 42483 395 4.77 15 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q06587 42429 406 5.44 6 Cytosol;Nucleus speckle;Nucleus;Nucleoplasm NA 0 PE1 NX_Q06609 36966 339 5.44 15 Nucleolus;Cytosol;Cytoplasm;Mitochondrion;Perinuclear region;Nucleus;Mitochondrion matrix;Centrosome;Chromosome Fanconi anemia, complementation group R;Breast cancer;Mirror movements 2 0 PE1 NX_Q06643 25390 244 5.25 6 Centrosome;Membrane NA 1 PE1 NX_Q06710 48218 450 7.72 2 Nucleoplasm;Nucleus Hypothyroidism, congenital, non-goitrous, 2 0 PE1 NX_Q06730 94384 810 8.42 10 Nucleus NA 0 PE1 NX_Q06732 90683 778 8.6 10 Nucleus NA 0 PE1 NX_Q06787 71174 632 7 X Perikaryon;Presynaptic cell membrane;Centromere;Cajal body;Stress granule;Perinuclear region;Postsynaptic cell membrane;Nucleus;Growth cone;Synaptosome;Synapse;Nucleolus;Filopodium tip;Dendritic spine;Cytosol;Cytoplasm;Cytoplasmic ribonucleoprotein granule;Cell membrane;Axon;Dendrite;Cell projection;Chromosome Premature ovarian failure 1;Fragile X syndrome;Fragile X tremor/ataxia syndrome 0 PE1 NX_Q06828 43179 376 5.66 1 Extracellular matrix NA 0 PE1 NX_Q06830 22110 199 8.27 1 Mitochondrion;Cytoplasm;Melanosome NA 0 PE1 NX_Q06889 42613 387 8.62 8 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q06945 47263 474 6.87 6 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q07000 40863 366 5.92 6 Membrane NA 1 PE1 NX_Q07001 58895 517 6.12 2 Cytosol;Nucleoplasm;Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 3B, fast-channel;Multiple pterygium syndrome, lethal type;Myasthenic syndrome, congenital, 3A, slow-channel;Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 4 PE1 NX_Q07002 54424 474 8.84 1 Cytoskeleton NA 0 PE1 NX_Q07011 27899 255 8.12 1 Nucleolus;Cell membrane;Membrane NA 1 PE1 NX_Q07020 21634 188 11.73 19 Rough endoplasmic reticulum;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleolus;Nucleus NA 0 PE1 NX_Q07021 31362 282 4.74 17 Nucleolus;Secreted;Cytoplasm;Cell membrane;Mitochondrion matrix;Nucleus;Mitochondrion Combined oxidative phosphorylation deficiency 33 0 PE1 NX_Q07065 66022 602 5.63 12 Endoplasmic reticulum membrane;Nucleus speckle;Cytosol;Cell membrane;Perinuclear region;Cytoskeleton NA 1 PE1 NX_Q07075 109244 957 5.31 4 Cell membrane;Endoplasmic reticulum NA 1 PE1 NX_Q07092 157751 1604 8.14 1 Cytosol;Cell membrane;Golgi apparatus;Extracellular matrix NA 0 PE1 NX_Q07108 22559 199 6.16 12 Membrane NA 1 PE1 NX_Q07157 195459 1748 6.24 15 Gap junction;Golgi apparatus;Cell membrane;Podosome;Cell junction;Tight junction NA 0 PE1 NX_Q07283 253925 1943 5.73 1 NA Uncombable hair syndrome 3 0 PE1 NX_Q07325 14019 125 10.39 4 Secreted NA 0 PE1 NX_Q07326 24890 219 8.88 2 Endoplasmic reticulum membrane NA 6 PE1 NX_Q07343 83343 736 5.09 1 Cytosol;Golgi apparatus NA 0 PE1 NX_Q07352 36314 338 8.12 14 Cytoplasm;P-body;Nucleus;Cytoplasmic granule NA 0 PE1 NX_Q07444 27100 240 8.36 12 Cytoplasmic vesicle;Membrane NA 1 PE2 NX_Q07507 24005 201 4.7 1 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 NX_Q075Z2 15693 132 6.8 19 Secreted NA 0 PE1 NX_Q07617 103639 926 6.46 8 Cytosol;Cytoplasm Ciliary dyskinesia, primary, 28 0 PE1 NX_Q07627 18235 177 5.55 17 NA NA 0 PE2 NX_Q07654 10181 94 6.52 21 Cytoplasm;Nucleolus;Nucleus;Extracellular matrix NA 0 PE1 NX_Q07666 48227 443 8.73 1 Nucleoplasm;Cytoplasm;Nucleus;Membrane NA 0 PE1 NX_Q07687 34243 328 9.25 2 Nucleus speckle;Nucleus NA 0 PE1 NX_Q07699 24707 218 4.88 19 Cell membrane;Secreted Atrial fibrillation, familial, 13;Brugada syndrome 5;Epileptic encephalopathy, early infantile, 52;Generalized epilepsy with febrile seizures plus 1 1 PE1 NX_Q07812 21184 192 5.08 19 Cytoplasm;Mitochondrion outer membrane NA 1 PE1 NX_Q07817 26049 233 4.86 20 Synaptic vesicle membrane;Nucleus membrane;Cytosol;Mitochondrion outer membrane;Mitochondrion;Mitochondrion inner membrane;Mitochondrion matrix;Centrosome NA 1 PE1 NX_Q07820 37337 350 5.51 1 Mitochondrion;Cytoplasm;Nucleoplasm;Membrane NA 1 PE1 NX_Q07837 78852 685 5.61 2 Mitochondrion;Nucleus;Membrane Hypotonia-cystinuria syndrome;Cystinuria 1 PE1 NX_Q07864 261518 2286 5.98 12 Nucleus;Cell membrane Colorectal cancer 12;Facial dysmorphism, immunodeficiency, livedo, and short stature 0 PE1 NX_Q07866 65310 573 5.87 14 Nucleoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol;Cytoskeleton;Growth cone NA 0 PE1 NX_Q07869 52225 468 5.86 22 Nucleus NA 0 PE1 NX_Q07889 152464 1333 6.38 2 Cytosol;Nucleolus;Nucleus Noonan syndrome 4;Fibromatosis, gingival, 1 0 PE1 NX_Q07890 152979 1332 6.39 14 Cytoplasmic vesicle;Nucleoplasm Noonan syndrome 9 0 PE1 NX_Q07912 114569 1038 6.84 3 Endosome;Cytosol;Clathrin-coated pit;Cell membrane;Perinuclear region;Nucleus;Adherens junction;Cytoplasmic vesicle membrane;Clathrin-coated vesicle NA 0 PE1 NX_Q07954 504606 4544 5.16 12 Nucleoplasm;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Coated pit;Nucleus Keratosis pilaris atrophicans 1 PE1 NX_Q07955 27745 248 10.37 17 Nucleoplasm;Nucleus speckle;Cytoplasm NA 0 PE1 NX_Q07960 50436 439 5.85 11 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q07973 58875 514 8.94 20 Mitochondrion;Nucleoplasm;Cell membrane Hypercalcemia, infantile, 1 0 PE1 NX_Q08043 103241 901 5.37 11 NA NA 0 PE1 NX_Q08050 84283 763 8 12 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q08116 23858 209 8.8 1 Cytosol;Cell membrane NA 0 PE1 NX_Q08117 21970 197 5.9 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q08170 56678 494 11.52 1 Nucleus speckle NA 0 PE1 NX_Q08174 114743 1060 4.91 5 Nucleolus;Nucleus;Cell junction;Cell membrane NA 1 PE1 NX_Q08188 76632 693 5.62 20 Cytoplasm Uncombable hair syndrome 2 0 PE1 NX_Q08209 58688 521 5.58 4 Sarcolemma;Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Dendritic spine;Z line Epileptic encephalopathy, infantile or early childhood, 1 0 PE1 NX_Q08211 140958 1270 6.41 1 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;Centrosome NA 0 PE1 NX_Q08257 35207 329 8.56 1 Cytosol;Cytoplasm NA 0 PE1 NX_Q08289 73581 660 8.11 10 Sarcolemma Brugada syndrome 4 0 PE1 NX_Q08334 36995 325 5.03 21 Cytosol;Membrane Inflammatory bowel disease 25 1 PE1 NX_Q08345 101128 913 6.38 6 Nucleoplasm;Cell junction;Cell membrane;Secreted NA 1 PE1 NX_Q08357 70392 652 6.09 8 Cytoplasm;Cell membrane Basal ganglia calcification, idiopathic, 1 12 PE1 NX_Q08378 167355 1498 5.34 12 Cytoplasm;Nucleus;Golgi apparatus;Golgi stack membrane NA 0 PE1 NX_Q08379 113086 1002 5 9 cis-Golgi network membrane;Spindle pole;Golgi apparatus;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 0 PE1 NX_Q08380 65331 585 5.13 17 Extracellular matrix;Secreted NA 0 PE1 NX_Q08397 63110 574 7.25 15 Extracellular space;Endoplasmic reticulum Exfoliation syndrome 0 PE1 NX_Q08426 79495 723 9.24 3 Peroxisome Fanconi renotubular syndrome 3 0 PE1 NX_Q08431 43105 387 8.47 15 Cytosol;Cytoplasm;Membrane;Nucleus;Secreted NA 0 PE1 NX_Q08462 123603 1091 8.4 5 Cytoplasm;Cell membrane;Membrane NA 12 PE1 NX_Q08477 59847 520 7.57 19 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_Q08493 79902 712 5.06 19 Cilium NA 0 PE1 NX_Q08495 45514 405 8.94 8 Cytosol;Cytoplasm;Cell membrane;Endomembrane system;Perinuclear region;Membrane;Cytoskeleton;Cell projection NA 0 PE1 NX_Q08499 91115 809 5.31 5 Apical cell membrane;Nucleus membrane;Cytosol;Cytoplasm;Cell membrane;Membrane;Cytoskeleton;Centrosome Acrodysostosis 2, with or without hormone resistance 0 PE1 NX_Q08554 99987 894 5.25 18 Desmosome;Cell membrane NA 1 PE1 NX_Q08623 25249 228 5.18 X NA NA 0 PE1 NX_Q08629 49124 439 5.74 5 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 NX_Q08648 11431 103 11.49 8 Secreted NA 0 PE1 NX_Q08708 24830 224 9.38 17 Cell membrane NA 1 PE2 NX_Q08722 35214 323 6.82 3 Cytoplasmic vesicle;Golgi apparatus;Cell membrane NA 5 PE1 NX_Q08752 40764 370 6.77 4 Cytosol;Cytoplasm;Nucleolus;Nucleus;Nucleoplasm NA 0 PE1 NX_Q08828 123440 1119 8.77 7 Mitochondrion;Cytoplasm;Membrane raft;Cell membrane;Membrane Deafness, autosomal recessive, 44 12 PE1 NX_Q08830 36379 312 5.58 8 Secreted NA 0 PE1 NX_Q08881 71831 620 7.51 5 Cytoplasm;Nucleus Lymphoproliferative syndrome 1 0 PE1 NX_Q08945 81075 709 6.45 11 Cytosol;Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_Q08999 128367 1139 7.27 16 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q08AD1 168089 1489 6.36 1 Cytosol;Cytoskeleton;Golgi apparatus NA 0 PE1 NX_Q08AE8 85544 756 8.89 18 Endosome;Nucleoplasm;Cell membrane;Cytosol;Perinuclear region;Cytoplasmic vesicle membrane;Cytoskeleton NA 0 PE1 NX_Q08AF3 101055 891 8.54 17 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 NX_Q08AF8 48405 430 5.41 15 NA NA 0 PE5 NX_Q08AG5 76934 666 9.14 19 Nucleus NA 0 PE1 NX_Q08AG7 8479 82 4.76 13 Spindle;Centrosome NA 0 PE1 NX_Q08AH1 65273 577 8.54 16 Mitochondrion matrix NA 0 PE1 NX_Q08AH3 64223 577 8.34 16 Mitochondrion matrix NA 0 PE1 NX_Q08AI6 44825 406 6.12 2 Membrane NA 10 PE2 NX_Q08AI8 49565 447 6.02 2 Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q08AM6 87973 782 5.76 16 Cytoplasmic vesicle;Endosome membrane;Cytosol;Microsome membrane Striatonigral degeneration, childhood-onset 0 PE1 NX_Q08AN1 90273 781 9.66 19 Nucleus;Centrosome NA 0 PE1 NX_Q08E93 13507 113 11.89 9 NA NA 0 PE1 NX_Q08ER8 68404 600 8.18 19 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 NX_Q08ET2 43970 396 8.24 19 Cell membrane NA 1 PE1 NX_Q08J23 86471 767 6.33 5 Spindle;Nucleolus;Nucleus Mental retardation, autosomal recessive 5 0 PE1 NX_Q09013 69385 629 4.92 19 Endoplasmic reticulum membrane;Nucleus outer membrane;Cytosol;Sarcoplasmic reticulum membrane;Cell membrane;Mitochondrion outer membrane;Cytoplasmic vesicle;Mitochondrion membrane Dystrophia myotonica 1 1 PE1 NX_Q09019 70438 674 6.9 19 Perikaryon;Cytoskeleton;Nucleus;Cell membrane;Dendrite NA 0 PE1 NX_Q09028 47656 425 4.74 1 Nucleus NA 0 PE1 NX_Q09160 40792 365 5.9 6 Membrane NA 1 PE1 NX_Q09161 91839 790 5.99 9 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q09327 61313 533 8.54 22 Golgi apparatus membrane NA 1 PE1 NX_Q09328 84543 741 8.41 2 Golgi apparatus membrane;Secreted NA 1 PE1 NX_Q09428 176992 1581 7.99 11 Cytosol;Nucleolus;Golgi apparatus;Cell membrane Transient neonatal diabetes mellitus 2;Diabetes mellitus, permanent neonatal;Leucine-induced hypoglycemia;Familial hyperinsulinemic hypoglycemia 1 17 PE1 NX_Q09470 56466 495 5.08 12 Axon;Synapse;Perikaryon;Endoplasmic reticulum;Cytoplasmic vesicle;Dendrite;Cell membrane;Presynaptic cell membrane;Membrane;Cell junction Episodic ataxia 1;Myokymia isolated 1 6 PE1 NX_Q09472 264161 2414 8.81 22 Nucleoplasm;Cytoplasm;Nucleus;Chromosome Rubinstein-Taybi syndrome 2 0 PE1 NX_Q09666 629101 5890 5.8 11 Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q09FC8 68798 603 9.16 19 Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_Q09MP3 133907 1159 7.11 2 NA NA 0 PE1 NX_Q0D2H9 48423 430 5.41 15 NA NA 0 PE5 NX_Q0D2I5 61979 559 4.83 12 NA NA 0 PE1 NX_Q0D2J5 46099 394 9.32 19 Nucleus NA 0 PE2 NX_Q0D2K0 50058 466 7.09 5 Membrane Ichthyosis, congenital, autosomal recessive 6 9 PE1 NX_Q0D2K2 63976 578 5.59 2 Microtubule organizing center NA 0 PE1 NX_Q0D2K3 16379 151 4.32 X Nucleus NA 0 PE1 NX_Q0D2K5 21632 195 8.36 3 NA NA 0 PE5 NX_Q0GE19 37432 340 9.68 4 Endoplasmic reticulum membrane;Nucleolus;Cell membrane NA 10 PE1 NX_Q0IIM8 128709 1120 5.66 X Cytosol NA 0 PE1 NX_Q0IIN9 22478 211 8.78 8 NA NA 0 PE5 NX_Q0JRZ9 88924 810 6.42 5 Cytoplasmic vesicle;Cytosol;Clathrin-coated pit;Centrosome NA 0 PE1 NX_Q0P140 8416 79 4.93 1 NA NA 0 PE5 NX_Q0P5N6 20936 197 8.57 17 NA NA 0 PE1 NX_Q0P5P2 13463 114 9.39 17 Secreted NA 0 PE1 NX_Q0P641 22038 193 9.47 2 Golgi apparatus NA 0 PE2 NX_Q0P651 46954 414 9.37 4 Nucleus membrane;Secreted NA 0 PE1 NX_Q0P670 57131 501 9.69 17 Membrane NA 1 PE1 NX_Q0P6D2 46420 419 6.38 18 Endoplasmic reticulum membrane NA 1 PE1 NX_Q0P6D6 110484 951 6.05 11 Cytosol;Cell membrane NA 0 PE1 NX_Q0P6H9 73133 643 9.34 15 Cytosol;Nucleolus;Nucleus;Membrane NA 6 PE1 NX_Q0PNE2 29793 266 6.36 3 Cytosol;Nucleus;Centrosome NA 0 PE1 NX_Q0VAA2 54535 488 5.22 14 NA NA 0 PE1 NX_Q0VAA5 34777 305 9.51 3 Nucleoplasm;Nucleus NA 0 PE1 NX_Q0VAF6 14405 134 8.11 19 Secretory vesicle membrane NA 0 PE1 NX_Q0VAK6 64914 560 5.42 3 A band;Cytoplasm;Cytoskeleton;M line Nemaline myopathy 10 0 PE1 NX_Q0VAM2 55359 473 8.19 4 Nucleoplasm;Cytoplasmic vesicle;Late endosome;Midbody;Early endosome NA 0 PE1 NX_Q0VAQ4 10679 97 4.21 12 Nucleoplasm;Cytoplasmic vesicle membrane;Cell membrane NA 1 PE1 NX_Q0VD83 114874 1088 4.38 16 Cell membrane NA 0 PE1 NX_Q0VD86 26817 236 6.92 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q0VDD5 6478 57 11.21 17 NA NA 0 PE5 NX_Q0VDD7 69556 668 4.71 19 Nucleoplasm NA 0 PE1 NX_Q0VDD8 399895 3507 6.52 1 Centrosome;Cilium axoneme NA 0 PE1 NX_Q0VDE8 9465 80 4.68 20 Nucleus;Membrane NA 1 PE2 NX_Q0VDF9 54794 509 5.41 10 Cytosol NA 0 PE1 NX_Q0VDG4 48544 424 5.38 2 Cytoplasmic vesicle;Cytosol NA 0 PE1 NX_Q0VDI3 24217 215 8.91 5 Nucleoplasm;Membrane NA 3 PE1 NX_Q0VF49 135305 1180 8.53 2 NA NA 0 PE1 NX_Q0VF96 149079 1302 5.51 15 Cell junction;Tight junction Aromatase excess syndrome 0 PE1 NX_Q0VFX4 18056 171 8.78 12 NA NA 0 PE2 NX_Q0VFZ6 66403 552 8.92 2 NA NA 0 PE1 NX_Q0VG06 93433 881 5.12 17 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q0VG73 10763 95 6.38 3 NA NA 0 PE5 NX_Q0VG99 41760 397 7.05 15 Nucleus Spondylocostal dysostosis 2, autosomal recessive 0 PE1 NX_Q0VGE8 75725 651 9.44 19 Nucleolus;Nucleus NA 0 PE1 NX_Q0VGL1 10741 99 6.07 7 Cytoplasmic vesicle;Lysosome NA 0 PE1 NX_Q0WX57 59711 530 8.35 4 Nucleolus;Endoplasmic reticulum NA 0 PE1 NX_Q0Z7S8 15093 132 7.79 8 Cytoplasm NA 0 PE1 NX_Q0ZGT2 80658 675 5.31 1 Cytoplasm;Cytoskeleton;Z line;Cell membrane;Adherens junction Cardiomyopathy, dilated 1CC;Cardiomyopathy, familial hypertrophic 20 0 PE1 NX_Q0ZLH3 39913 352 9.18 2 Mitochondrion Deafness, autosomal recessive, 59 0 PE1 NX_Q10469 51550 447 8.99 14 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2A 1 PE1 NX_Q10471 64733 571 8.63 1 Golgi stack membrane;Golgi apparatus;Secreted NA 1 PE1 NX_Q10472 64219 559 7.83 18 Golgi stack membrane;Secreted NA 1 PE1 NX_Q10567 104637 949 4.94 22 Cytoplasmic vesicle;Clathrin-coated vesicle membrane;Golgi apparatus NA 0 PE1 NX_Q10570 160884 1443 5.99 8 Nucleoplasm NA 0 PE1 NX_Q10571 136001 1320 6.22 22 Nucleoplasm NA 0 PE1 NX_Q10586 34349 325 9.34 19 Nucleus NA 0 PE1 NX_Q10587 33248 303 5.81 22 Nucleus NA 0 PE1 NX_Q10588 35724 318 7.97 4 Cell membrane NA 0 PE1 NX_Q10589 19769 180 5.43 19 Apical cell membrane;Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Late endosome;trans-Golgi network;Membrane raft NA 1 PE1 NX_Q10713 58253 525 6.45 9 Mitochondrion matrix;Mitochondrion;Mitochondrion inner membrane Spinocerebellar ataxia, autosomal recessive, 2 0 PE1 NX_Q107X0 14401 134 9.73 19 Cytoplasm;Nucleus NA 0 PE5 NX_Q10981 39017 343 8.69 19 Cytosol;Golgi stack membrane;Cell membrane NA 1 PE1 NX_Q11128 43008 374 8.54 19 Golgi stack membrane NA 1 PE2 NX_Q11130 39239 342 10.07 9 Golgi stack membrane;Golgi apparatus NA 1 PE1 NX_Q11201 39075 340 9.21 8 Golgi stack membrane;Secreted NA 1 PE1 NX_Q11203 42171 375 9.1 1 Golgi stack membrane;Secreted Epileptic encephalopathy, early infantile, 15;Mental retardation, autosomal recessive 12 1 PE1 NX_Q11206 38045 333 9.45 11 Golgi stack membrane;Secreted NA 1 PE1 NX_Q12756 191064 1690 5.86 2 Cytosol;Cytoskeleton;Microtubule organizing center Mental retardation, autosomal dominant 9;Spastic paraplegia 30, autosomal recessive;Neuropathy, hereditary sensory, 2C 0 PE1 NX_Q12765 46382 414 4.66 7 Cytosol;Cytoplasm NA 0 PE1 NX_Q12766 168334 1538 8.39 5 Nucleolus;Nucleus NA 0 PE1 NX_Q12767 151151 1356 5.99 17 Membrane NA 10 PE1 NX_Q12768 134286 1159 6.54 8 Cytosol;Nucleoplasm;Endoplasmic reticulum;Early endosome Spastic paraplegia 8, autosomal dominant;Ritscher-Schinzel syndrome 1 0 PE1 NX_Q12769 162121 1436 5.31 11 Nuclear pore complex NA 0 PE1 NX_Q12770 139729 1279 6.41 3 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Golgi apparatus membrane NA 8 PE1 NX_Q12772 123688 1141 8.72 22 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Mitochondrion;Golgi apparatus membrane NA 2 PE1 NX_Q12774 176799 1597 5.37 7 Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus;Podosome NA 0 PE1 NX_Q12778 69662 655 6.28 13 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Rhabdomyosarcoma 2 0 PE1 NX_Q12788 89035 808 6.44 16 Nucleolus NA 0 PE1 NX_Q12789 238875 2109 7.01 16 Nucleolus;Nucleus NA 0 PE1 NX_Q12791 137560 1236 6.66 10 Cell membrane Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 7 PE1 NX_Q12792 40283 350 6.48 12 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q12794 48368 435 6.31 3 Secreted;Lysosome Mucopolysaccharidosis 9 0 PE1 NX_Q12796 35225 327 10.51 6 Nucleolus;Nucleus NA 0 PE1 NX_Q12797 85863 758 4.92 8 Endoplasmic reticulum membrane;Endoplasmic reticulum;Sarcoplasmic reticulum membrane Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs 1 PE1 NX_Q12798 19570 172 4.79 18 Centrosome NA 0 PE1 NX_Q12799 38267 353 8.46 6 NA NA 0 PE1 NX_Q12800 57256 502 5.53 12 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q12802 307550 2813 5.12 15 Cytosol;Cytoplasm;Nucleus;Cell cortex;Membrane NA 0 PE1 NX_Q12805 54641 493 4.95 2 Mitochondrion;Extracellular space;Extracellular matrix Doyne honeycomb retinal dystrophy 0 PE1 NX_Q12809 126655 1159 8.2 7 Cell membrane Short QT syndrome 1;Long QT syndrome 2 6 PE1 NX_Q12815 83857 778 7.2 12 Cytoplasm NA 0 PE1 NX_Q12816 143716 1431 9.18 X Nucleolus;Nucleus NA 0 PE1 NX_Q12824 44141 385 5.86 22 Nucleoplasm;Nucleolus;Nucleus Rhabdoid tumor predisposition syndrome 1;Schwannomatosis 1;Coffin-Siris syndrome 3 0 PE1 NX_Q12829 30956 278 9.68 17 Cell membrane NA 0 PE1 NX_Q12830 338262 3046 6.15 17 Cytoplasm;Nucleus Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 PE1 NX_Q12834 54723 499 9.33 1 Cytosol;Nucleus;Centrosome;Spindle pole NA 0 PE1 NX_Q12836 59400 540 6.23 1 Cell membrane;Extracellular matrix NA 1 PE1 NX_Q12837 43087 409 9.33 4 Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 NX_Q12840 117378 1032 5.65 12 Cytosol;Cytoskeleton;Spindle;Perinuclear region;Nucleoplasm Myoclonus, intractable, neonatal;Amyotrophic lateral sclerosis 25;Spastic paraplegia 10, autosomal dominant 0 PE1 NX_Q12841 34986 308 5.39 3 Cytosol;Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q12846 34180 297 5.92 16 Cell membrane NA 1 PE1 NX_Q12849 53126 480 5.83 4 Mitochondrion;Cytoplasm;Mitochondrion nucleoid NA 0 PE1 NX_Q12851 91556 820 5.91 11 Cytoplasmic vesicle;Cytoplasm;Basolateral cell membrane;Golgi apparatus membrane NA 0 PE1 NX_Q12852 93219 859 6.03 12 Cytoplasm;Nucleus;Cell junction;Cell membrane NA 0 PE1 NX_Q12857 55944 509 8.66 1 Nucleoplasm;Nucleus Brain malformations with or without urinary tract defects 0 PE1 NX_Q12860 113320 1018 5.62 12 Cell membrane Myopathy, congenital, Compton-North 0 PE1 NX_Q12864 92219 832 4.99 8 Cell junction;Cell membrane NA 1 PE1 NX_Q12866 110249 999 5.51 2 Cytosol;Cell membrane;Endoplasmic reticulum;Membrane Retinitis pigmentosa 38 1 PE1 NX_Q12870 20816 199 9.97 20 Nucleus speckle;Nucleus NA 0 PE2 NX_Q12872 104822 951 8.11 12 Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q12873 226592 2000 6.92 17 Nucleolus;Nucleus;Centrosome;Microtubule organizing center NA 0 PE1 NX_Q12874 58849 501 5.27 1 Nucleoplasm;Nucleus speckle NA 0 PE1 NX_Q12879 165283 1464 6.67 16 Postsynaptic cell membrane;Cell membrane Epilepsy, focal, with speech disorder and with or without mental retardation 3 PE1 NX_Q12882 111401 1025 6.8 1 Cytoplasm Dihydropyrimidine dehydrogenase deficiency 0 PE1 NX_Q12884 87713 760 6.21 2 Invadopodium membrane;Secreted;Cytoplasm;Cell membrane;Lamellipodium membrane;Ruffle membrane;Membrane;Cell surface NA 1 PE1 NX_Q12887 48910 443 9.36 17 Cytosol;Mitochondrion;Nucleolus;Mitochondrion membrane Mitochondrial complex IV deficiency;Leigh syndrome 7 PE1 NX_Q12888 213574 1972 4.62 15 Kinetochore;Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q12889 75421 678 8.9 1 Secretory vesicle NA 0 PE1 NX_Q12891 53860 473 8.47 3 Cell membrane NA 0 PE1 NX_Q12893 38197 351 8.31 3 Golgi stack membrane;Golgi apparatus NA 4 PE1 NX_Q12894 54814 506 8.21 3 Nucleoplasm NA 0 PE1 NX_Q12899 62166 539 4.98 6 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q12901 62081 538 8.81 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q12904 34353 312 8.61 4 Cytosol;Nucleus;Golgi apparatus;Endoplasmic reticulum;Secreted Leukodystrophy, hypomyelinating, 3 0 PE1 NX_Q12905 43062 390 5.19 1 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q12906 95338 894 8.86 19 Mitochondrion;Cytoplasm;Nucleolus;Nucleus;Nucleoplasm NA 0 PE1 NX_Q12907 40229 356 6.46 5 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE1 NX_Q12908 37714 348 6.79 13 Membrane Primary bile acid malabsorption 7 PE1 NX_Q12912 62122 555 5.62 12 Endoplasmic reticulum membrane;Cytosol;Cytoplasm;Nucleus envelope;Centrosome;Cytoplasmic vesicle;Nucleus;Membrane;Spindle pole;Chromosome NA 1 PE1 NX_Q12913 145941 1337 5.38 11 Cell membrane;Cell junction;Ruffle membrane NA 1 PE1 NX_Q12918 25415 225 5.95 12 Cytosol;Nucleoplasm;Membrane NA 1 PE1 NX_Q12923 276906 2485 5.99 4 Cytosol;Lamellipodium;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 NX_Q12926 39504 359 9.22 9 NA NA 0 PE1 NX_Q12929 91882 822 7.1 12 Synaptosome;Golgi apparatus;Stereocilium;Cell cortex;Ruffle membrane;Growth cone Deafness, autosomal recessive, 102 0 PE1 NX_Q12931 80110 704 8.3 16 Mitochondrion matrix;Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_Q12933 55859 501 7.66 9 Cytosol;Cytoplasm NA 0 PE1 NX_Q12934 74544 665 5.09 20 Cytosol;Cytoskeleton;Cell cortex;Cell membrane Cataract 33, multiple types 0 PE1 NX_Q12946 40122 379 9.24 16 Nucleoplasm;Nucleus Alveolar capillary dysplasia with misalignment of pulmonary veins 0 PE1 NX_Q12947 45993 444 9.2 6 Nucleus NA 0 PE1 NX_Q12948 56789 553 8.7 6 Nucleoplasm;Cytosol;Nucleus Axenfeld-Rieger syndrome 3;Anterior segment dysgenesis 3 0 PE1 NX_Q12950 47309 439 9.38 9 Nucleus NA 0 PE2 NX_Q12951 40973 378 5.89 5 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 NX_Q12952 36490 345 9.64 16 Nucleus NA 0 PE1 NX_Q12955 480410 4377 6.07 10 Golgi apparatus;Lysosome;Cell membrane;Axon;Postsynaptic cell membrane;Sarcolemma;Cytoskeleton Mental retardation, autosomal recessive 37 0 PE1 NX_Q12959 100455 904 5.51 3 Endoplasmic reticulum membrane;Synapse;Apical cell membrane;Basolateral cell membrane;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Sarcolemma;Membrane;Postsynaptic density;Cell junction NA 0 PE1 NX_Q12962 21711 218 6.12 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q12965 127062 1108 9.01 15 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Clathrin-coated vesicle;Cell junction Focal segmental glomerulosclerosis 6 0 PE1 NX_Q12967 100607 914 5.52 9 Cytoplasm;Nucleus NA 0 PE1 NX_Q12968 115594 1075 5.91 16 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q12972 38479 351 6.87 1 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 NX_Q12974 19127 167 8.67 1 Cytoplasm;Cell membrane;Early endosome NA 0 PE1 NX_Q12979 97598 859 6.12 17 Cytosol;Nucleoplasm NA 0 PE1 NX_Q12980 63605 569 6.5 16 Cytosol;Lysosome membrane Epilepsy, familial focal, with variable foci 3 0 PE1 NX_Q12981 26132 228 9.06 5 Endoplasmic reticulum membrane;Endoplasmic reticulum;Mitochondrion membrane NA 1 PE1 NX_Q12982 36018 314 4.7 15 Cytoplasm;Perinuclear region NA 0 PE1 NX_Q12983 27832 259 6.66 10 Cytosol;Mitochondrion;Mitochondrion outer membrane NA 1 PE1 NX_Q12986 124395 1120 8.67 9 Cytosol;Nucleus NA 0 PE1 NX_Q12988 16966 150 5.66 5 Cytoplasm;Nucleus Neuronopathy, distal hereditary motor, 2C 0 PE1 NX_Q12996 82922 717 8.26 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q12999 23053 210 8.3 12 Membrane NA 4 PE1 NX_Q13002 102583 908 8.05 6 Postsynaptic cell membrane;Cell membrane Mental retardation, autosomal recessive 6 3 PE1 NX_Q13003 104037 919 7.28 1 Postsynaptic cell membrane;Cell membrane NA 3 PE1 NX_Q13007 23825 206 8.95 1 Secreted NA 0 PE1 NX_Q13009 177508 1591 6.17 21 Nucleolus;Nucleus membrane;Cytosol;Cell membrane;Nucleus;Cytoskeleton;Cell junction NA 0 PE1 NX_Q13011 35816 328 8.16 19 Mitochondrion;Peroxisome NA 0 PE1 NX_Q13015 10061 90 4.39 1 Cytosol;Cytoplasm;Nucleus;Centrosome;Nucleoplasm NA 0 PE1 NX_Q13017 172460 1502 6.18 14 Cytosol;Cytoplasm;Endoplasmic reticulum;Cell membrane NA 0 PE1 NX_Q13018 168600 1463 5.73 2 Cytosol;Cell membrane;Secreted NA 1 PE1 NX_Q13021 17350 153 6.15 2 Membrane NA 4 PE1 NX_Q13023 256720 2319 4.9 14 Sarcoplasmic reticulum;Nucleus membrane NA 0 PE1 NX_Q13029 188915 1718 7.02 1 Nucleus;Golgi apparatus NA 0 PE1 NX_Q13033 87209 797 5.17 14 Nucleoplasm;Cytoplasm;Cytoskeleton;Cytosol;Membrane NA 0 PE1 NX_Q13042 71656 620 5.55 13 Cytoplasm;Spindle;Centrosome NA 0 PE1 NX_Q13043 55630 487 4.97 20 Cytosol;Cytoplasm;Nucleus;Nucleoplasm T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations 0 PE1 NX_Q13045 144751 1269 5.75 17 Cytosol;Microtubule organizing center;Nucleoplasm;Focal adhesion;Nucleus;Cytoskeleton;Centrosome NA 0 PE1 NX_Q13046 47027 419 8.65 19 Secreted NA 0 PE5 NX_Q13049 71989 653 6.59 9 Cytoplasm;Cytoskeleton Bardet-Biedl syndrome 11;Limb-girdle muscular dystrophy 2H 0 PE1 NX_Q13057 62329 564 6.51 17 Mitochondrion matrix;Cytoplasm;Cytosol;Nucleoplasm Neurodegeneration with brain iron accumulation 6 0 PE1 NX_Q13061 81595 729 9.42 6 Cytosol;Cell membrane;Sarcoplasmic reticulum membrane Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 1 PE1 NX_Q13064 55645 507 5.52 15 Nucleoplasm;Cytosol;Cell membrane Precocious puberty, central 2 0 PE1 NX_Q13065 15610 139 4.39 X NA NA 0 PE1 NX_Q13066 12786 116 4.34 X NA NA 0 PE1 NX_Q13068 12885 117 4.12 X Cytoplasm;Nucleus NA 0 PE1 NX_Q13069 12924 117 4.19 X NA NA 0 PE1 NX_Q13070 12892 117 4.19 X NA NA 0 PE1 NX_Q13072 4810 43 5 13 Secreted NA 0 PE2 NX_Q13075 159582 1403 5.68 5 NA NA 0 PE1 NX_Q13077 46164 416 5.77 9 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q13084 30157 256 8.34 16 Mitochondrion NA 0 PE1 NX_Q13085 265554 2346 5.95 17 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus Acetyl-CoA carboxylase 1 deficiency 0 PE1 NX_Q13087 58206 525 4.89 16 Cytosol;Nucleoplasm;Endoplasmic reticulum lumen NA 0 PE1 NX_Q13093 50077 441 7.23 6 Cytoplasmic vesicle;Extracellular space Atopic hypersensitivity;Asthma;Platelet-activating factor acetylhydrolase deficiency 0 PE1 NX_Q13094 60188 533 5.89 5 Cytoplasm NA 0 PE1 NX_Q13098 55537 491 6.3 17 Cytoplasm;Nucleus NA 0 PE1 NX_Q13099 94270 833 6.2 13 Flagellum;Cytoplasm;Centrosome;Centriole;Cilium;Cilium basal body NA 0 PE1 NX_Q13103 24338 211 8.59 2 Secreted NA 0 PE1 NX_Q13105 87928 803 6 1 Nucleus NA 0 PE1 NX_Q13106 49865 437 9.11 19 Nucleus NA 0 PE2 NX_Q13107 108565 963 5.47 3 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q13111 106910 956 5.69 19 Cytosol;Nucleus NA 0 PE1 NX_Q13112 61493 559 7.18 21 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q13113 12227 114 4.79 1 Cytosol;Nucleus speckle;Membrane NA 1 PE1 NX_Q13114 64490 568 8.23 14 Mitochondrion;Cytoplasm;Endosome Encephalopathy, acute, infection-induced, Herpes-specific, 5 0 PE1 NX_Q13115 42953 394 7.1 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q13117 63111 558 8.84 Y Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 0 PE1 NX_Q13118 52555 480 9.29 8 Nucleus NA 0 PE1 NX_Q13123 65602 557 6.26 5 Nucleoplasm;Nucleus speckle;Nucleus;Spindle pole;Chromosome NA 0 PE1 NX_Q13126 31236 283 6.75 9 Cytosol;Cytoplasm;Nucleus Diaphyseal medullary stenosis with malignant fibrous histiocytoma 0 PE1 NX_Q13127 121872 1097 6.3 4 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Wilms tumor 6;Fibromatosis, gingival, 5 0 PE1 NX_Q13129 217953 1914 6.32 1 Nucleus NA 0 PE1 NX_Q13131 64009 559 8.32 5 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q13133 50396 447 7.61 11 Cytoplasm;Nucleus NA 0 PE1 NX_Q13136 135779 1202 5.91 11 Cytosol;Cytoplasm;Focal adhesion NA 0 PE1 NX_Q13137 52254 446 4.94 17 Autophagosome membrane;Cytosol;Cytoplasm;Cytoplasmic vesicle;Perinuclear region;Nucleus;Cytoskeleton NA 0 PE1 NX_Q13144 80380 721 4.98 3 Cytosol Leukodystrophy with vanishing white matter 0 PE1 NX_Q13145 29108 260 7.91 10 Cytoplasmic vesicle;Lipid droplet;Nucleolus;Membrane NA 1 PE1 NX_Q13148 44740 414 5.85 1 Nucleoplasm;Nucleus Amyotrophic lateral sclerosis 10 0 PE1 NX_Q13151 30841 305 9.34 5 Nucleoplasm;Nucleus NA 0 PE1 NX_Q13153 60647 545 5.55 11 Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Ruffle membrane;Invadopodium NA 0 PE1 NX_Q13155 35349 320 8.45 7 Cytosol;Nucleus Leukodystrophy, hypomyelinating, 17 0 PE1 NX_Q13156 28868 261 6.07 X Nucleus NA 0 PE1 NX_Q13158 23279 208 5.48 11 Cytosol;Nucleoplasm Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations 0 PE1 NX_Q13162 30540 271 5.86 X Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_Q13163 50112 448 5.98 15 Cytoskeleton;Nucleolus NA 0 PE1 NX_Q13164 88386 816 5.6 17 Cytosol;PML body;Nucleus;Cytoplasm NA 0 PE1 NX_Q13166 9224 79 8 7 NA NA 0 PE2 NX_Q13177 58043 524 5.69 3 Cytoplasmic vesicle;Cytoplasm;Perinuclear region;Nucleus;Membrane NA 0 PE1 NX_Q13183 64410 592 6.55 17 Membrane NA 12 PE1 NX_Q13185 20811 183 5.23 7 Nucleus NA 0 PE1 NX_Q13188 56301 491 5.12 8 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q13190 39673 355 9.21 11 Nucleoplasm;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus NA 1 PE1 NX_Q13191 109450 982 8.15 3 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q13200 100200 908 5.08 3 NA NA 0 PE1 NX_Q13201 138110 1228 8.15 4 Endoplasmic reticulum;Secreted NA 0 PE1 NX_Q13202 65827 625 8.58 11 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q13203 52050 477 6.3 1 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 NX_Q13206 100888 875 8.72 11 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q13207 75066 712 9.13 17 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q13214 83122 749 9.17 3 Endoplasmic reticulum;Secreted NA 0 PE1 NX_Q13216 44055 396 5.91 5 Nucleus speckle;Nucleus Cockayne syndrome A;UV-sensitive syndrome 2 0 PE1 NX_Q13217 57580 504 5.83 13 Endoplasmic reticulum Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 0 PE1 NX_Q13219 180973 1627 5.76 9 Cytosol;Cell membrane;Secreted NA 0 PE1 NX_Q13224 166367 1484 6.47 12 Postsynaptic cell membrane;Cell membrane Mental retardation, autosomal dominant 6, with or without seizures;Epileptic encephalopathy, early infantile, 27 3 PE1 NX_Q13227 36689 327 9.52 17 Cytosol;Mitochondrion;Nucleus;Nucleoplasm NA 0 PE1 NX_Q13228 52391 472 5.93 1 Cytosol;Nucleolus;Nucleus;Membrane NA 0 PE1 NX_Q13231 51681 466 6.55 1 Secreted;Lysosome NA 0 PE1 NX_Q13232 19015 169 7.71 16 Nucleoplasm;Cytosol NA 0 PE1 NX_Q13233 164470 1512 7.93 5 Cytosol 46,XY sex reversal 6 0 PE1 NX_Q13237 87432 762 8.67 4 Apical cell membrane NA 0 PE1 NX_Q13239 31156 276 7.61 8 Cytoplasm;Endosome;Nucleus membrane NA 0 PE1 NX_Q13241 20513 179 5.19 12 Membrane NA 1 PE1 NX_Q13242 25542 221 8.74 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q13243 31264 272 11.59 14 Nucleolus;Nucleus NA 0 PE1 NX_Q13247 39587 344 11.42 20 Nucleus speckle;Nucleus NA 0 PE1 NX_Q13253 25774 232 9.13 17 Secreted Brachydactyly B2;Stapes ankylosis with broad thumb and toes;Multiple synostoses syndrome 1;Symphalangism, proximal 1A;Tarsal-carpal coalition syndrome 0 PE1 NX_Q13255 132357 1194 6.27 6 Cytoplasmic vesicle;Cell membrane Spinocerebellar ataxia, autosomal recessive, 13;Spinocerebellar ataxia 44 7 PE1 NX_Q13257 23510 205 5.02 4 Nucleoplasm;Kinetochore;Nucleus;Spindle pole;Cytoplasm NA 0 PE1 NX_Q13258 40271 359 9.39 14 Cell membrane Asthma-related traits 1 7 PE1 NX_Q13261 28233 267 8.64 10 Endoplasmic reticulum membrane;Extracellular space;Nucleus membrane;Cytosol;Cell membrane;Golgi apparatus membrane;Membrane;Cytoplasmic vesicle membrane NA 1 PE1 NX_Q13263 88550 835 5.52 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q13268 29927 280 9.21 14 Mitochondrion matrix;Mitochondrion;Nucleus NA 0 PE1 NX_Q13275 88381 785 8.59 3 Secreted NA 0 PE1 NX_Q13277 33155 289 5.31 11 Cytosol;Nucleus;Golgi apparatus;Membrane NA 1 PE1 NX_Q13278 11984 110 8.36 11 NA NA 0 PE5 NX_Q13283 52164 466 5.36 5 Perikaryon;Cytosol;Cytoplasm;Cell membrane;Stress granule;Nucleus NA 0 PE1 NX_Q13285 51636 461 7.81 9 Nucleus Spermatogenic failure 8;Adrenal insufficiency, NR5A1-related;46,XX sex reversal 4;46,XY sex reversal 3;Premature ovarian failure 7 0 PE1 NX_Q13286 47623 438 5.93 16 Lysosome membrane;Late endosome;Lysosome Ceroid lipofuscinosis, neuronal, 3 6 PE1 NX_Q13287 35057 307 5.24 2 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q13291 37231 335 8.7 1 Cell membrane;Secreted NA 1 PE1 NX_Q13296 10499 93 4.17 11 Secreted NA 0 PE1 NX_Q13303 41000 367 9.11 1 Synaptosome;Cytoplasm;Cell membrane;Axon;Membrane;Cytoskeleton NA 0 PE1 NX_Q13304 40989 367 9.58 2 Cytoplasmic vesicle;Cell membrane NA 7 PE2 NX_Q13308 118392 1070 6.67 6 Cell junction;Membrane NA 1 PE1 NX_Q13309 47761 424 6.67 5 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q13310 70783 644 9.31 1 Cytosol;Cytoplasm NA 0 PE1 NX_Q13315 350687 3056 6.39 11 Nucleoplasm;Cytoplasmic vesicle;Nucleus Ataxia telangiectasia 0 PE1 NX_Q13316 55782 513 4 4 Cytoplasm;Nucleus;Extracellular matrix Hypophosphatemic rickets, autosomal recessive, 1 0 PE1 NX_Q13319 38705 367 9.76 2 Cell membrane NA 0 PE1 NX_Q13322 67231 594 8.06 7 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q13323 18016 160 4.21 22 Mitochondrion membrane;Endomembrane system NA 1 PE1 NX_Q13324 47688 411 7.87 7 Cell membrane NA 7 PE1 NX_Q13325 55847 482 7 10 Cytoplasmic vesicle;Ruffle membrane;Cell membrane NA 0 PE1 NX_Q13326 32379 291 5.64 13 Nucleoplasm;Cytoskeleton;Sarcolemma Limb-girdle muscular dystrophy 2C 1 PE1 NX_Q13330 80786 715 9.34 14 Cytosol;Cytoplasm;Nucleus envelope;Nucleoplasm;Nucleus;Cytoskeleton NA 0 PE1 NX_Q13332 217041 1948 6.06 19 Synaptosome;Synaptic vesicle membrane;Perikaryon;Cytosol;Cell membrane;Axon;Postsynaptic density NA 1 PE1 NX_Q13336 42528 389 6.79 18 Cytoplasmic vesicle;Basolateral cell membrane;Cell membrane NA 8 PE1 NX_Q13342 98223 867 5.21 2 Mitochondrion;Cytoplasm;Nucleolus;Nucleus;PML body NA 0 PE1 NX_Q13347 36502 325 5.38 1 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 NX_Q13349 126758 1161 5.5 16 Membrane NA 1 PE1 NX_Q13351 38221 362 6.67 19 Nucleoplasm;Nucleus Anemia, congenital dyserythropoietic, 4 0 PE1 NX_Q13352 20194 177 9.13 1 Kinetochore;Cytoplasm;Centromere;Nucleus;Nucleoplasm NA 0 PE1 NX_Q13356 58823 520 8.92 22 Nucleoplasm;Nucleus NA 0 PE1 NX_Q13360 54782 481 8.53 19 Nucleus NA 0 PE1 NX_Q13361 19612 173 5.64 12 Extracellular matrix Aortic aneurysm, familial thoracic 9 0 PE1 NX_Q13362 61061 524 6.41 14 Cytosol;Centromere;Nucleus;Golgi apparatus;Nucleoplasm NA 0 PE1 NX_Q13363 47535 440 6.28 4 Nucleoplasm;Cytoplasm;Nucleus Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 0 PE1 NX_Q13367 119059 1082 5.43 15 Golgi apparatus;Clathrin-coated vesicle membrane Epileptic encephalopathy, early infantile, 48 0 PE1 NX_Q13368 66152 585 6.34 17 Cytosol;Nucleoplasm NA 0 PE1 NX_Q13370 124333 1112 5.61 11 Endoplasmic reticulum;Membrane NA 6 PE1 NX_Q13371 34282 301 4.65 9 Cytosol;Cytoplasm;Cilium NA 0 PE1 NX_Q13387 87975 824 4.36 22 Cytoplasm NA 0 PE1 NX_Q13393 124184 1074 8.91 3 Endoplasmic reticulum membrane;Perinuclear region;Late endosome membrane;Golgi apparatus membrane;Cell membrane Cardiac valvular defect, developmental 0 PE1 NX_Q13394 40956 359 8.94 13 Nucleus NA 0 PE1 NX_Q13395 181675 1621 6.66 1 Nucleus speckle NA 0 PE1 NX_Q13398 64535 564 8.83 19 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 NX_Q13401 18716 168 4.52 7 NA NA 0 PE5 NX_Q13402 254390 2215 8.79 11 Cytosol;Cytoplasm;Cytoskeleton;Cell cortex Deafness, autosomal recessive, 2;Usher syndrome 1B;Deafness, autosomal dominant, 11 0 PE1 NX_Q13404 16495 147 7.71 20 Nucleus NA 0 PE1 NX_Q13405 19198 166 9.47 11 Mitochondrion NA 0 PE1 NX_Q13409 71457 638 5.08 2 Nucleolus;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleus;Cytoskeleton NA 0 PE1 NX_Q13410 58960 526 5.38 6 Secreted;Membrane NA 1 PE1 NX_Q13415 97350 861 9.34 1 Cytosol;Nucleus;Cell membrane Meier-Gorlin syndrome 1 0 PE1 NX_Q13416 65972 577 6.07 2 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q13418 51419 452 8.3 11 Sarcomere;Lamellipodium;Focal adhesion;Cell junction;Cell membrane NA 0 PE1 NX_Q13421 68986 630 6.03 16 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Secreted NA 0 PE1 NX_Q13422 57528 519 6.12 7 Nucleoplasm;Cytoplasm;Nucleus Immunodeficiency, common variable, 13 0 PE1 NX_Q13423 113896 1086 8.31 5 Mitochondrion;Mitochondrion inner membrane Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 14 PE1 NX_Q13424 53895 505 6.35 20 Cytoskeleton;Cell junction;Sarcolemma Long QT syndrome 12 0 PE1 NX_Q13425 57950 540 9.03 16 Cytoskeleton;Secretory vesicle membrane;Cell junction;Membrane NA 0 PE1 NX_Q13426 38287 336 4.91 5 Nucleus Short stature, microcephaly, and endocrine dysfunction 0 PE1 NX_Q13427 88617 754 10.29 2 Cytosol;Nucleus speckle;Nucleus;Nucleus matrix NA 0 PE1 NX_Q13428 152106 1488 9.06 5 Nucleolus Treacher Collins syndrome 1 0 PE1 NX_Q13432 26962 240 6 17 Spindle;Spindle pole;Centrosome Immunodeficiency 13 0 PE1 NX_Q13433 85047 755 6.45 18 Cell membrane NA 6 PE1 NX_Q13434 52910 485 5.08 X NA NA 0 PE5 NX_Q13435 100228 895 5.52 11 Nucleus speckle;Nucleus NA 0 PE1 NX_Q13438 75562 667 4.8 12 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 NX_Q13439 261140 2230 5.33 3 trans-Golgi network membrane;Golgi apparatus;Cytosol;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus membrane NA 0 PE1 NX_Q13442 20630 181 8.84 7 Cytosol;Cell membrane NA 0 PE1 NX_Q13443 90556 819 7.71 8 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane;Secreted Cone-rod dystrophy 9 1 PE1 NX_Q13444 92959 863 6.3 1 Cytoplasmic vesicle;Adherens junction;Flagellum;Acrosome;Endomembrane system NA 1 PE1 NX_Q13445 25206 227 4.39 19 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cell membrane NA 1 PE1 NX_Q13449 37393 338 6.55 3 Cytosol;Cell membrane NA 0 PE1 NX_Q13451 51212 457 5.71 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q13454 39676 348 9.93 8 Endoplasmic reticulum membrane Mental retardation, autosomal recessive 7 4 PE1 NX_Q13459 243401 2157 8.91 19 Cytosol;Perinuclear region;Cell cortex;Cytoskeleton Celiac disease 4 0 PE1 NX_Q13461 33234 319 9.72 1 Nucleus Cataract 34, multiple types;Anterior segment dysgenesis 2;Aortic aneurysm, familial thoracic 11 0 PE1 NX_Q13464 158175 1354 5.66 18 Ruffle;Cytoplasm;Cell membrane;Centriole;Golgi apparatus membrane;Bleb;Lamellipodium;Cytoskeleton NA 0 PE1 NX_Q13467 64507 585 8.69 2 Synapse;Perikaryon;Cell membrane;Axon;Dendrite;Golgi apparatus membrane NA 7 PE1 NX_Q13469 100146 925 6.87 20 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q13470 72468 666 9.57 17 Cytoplasm;Cell junction;Membrane NA 0 PE1 NX_Q13472 112372 1001 8.69 17 Mitochondrion matrix Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5;Microcephaly, growth restriction, and increased sister chromatid exchange 2 0 PE1 NX_Q13474 107962 957 5.82 X Nucleus speckle;Dendrite;Perikaryon;Cell membrane;Postsynaptic density NA 0 PE1 NX_Q13477 40155 382 5 19 Membrane NA 1 PE1 NX_Q13478 62304 541 8.06 2 Mitochondrion;Membrane NA 1 PE1 NX_Q13480 76616 694 5.63 4 Cytoplasmic vesicle Deafness, autosomal recessive, 26 0 PE1 NX_Q13485 60439 552 6.5 18 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Centrosome Myhre syndrome;Pancreatic cancer;Juvenile polyposis syndrome;Colorectal cancer;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 PE1 NX_Q13487 35556 334 5.79 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q13488 92968 830 6.66 11 Mitochondrion;Membrane Osteopetrosis, autosomal recessive 1 8 PE1 NX_Q13489 68372 604 5.71 11 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q13490 69900 618 6.27 11 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q13491 28989 265 5.53 X Cell membrane NA 4 PE1 NX_Q13492 70755 652 7.7 11 Cytoplasmic vesicle;Clathrin-coated vesicle;Clathrin-coated pit;Nucleus;Golgi apparatus NA 0 PE1 NX_Q13495 83231 774 8.54 X Nucleoplasm;Nucleus Hypospadias 2, X-linked 0 PE1 NX_Q13496 69932 603 8.38 X Late endosome;Ruffle;Cytoplasm;Cell membrane;Filopodium;Sarcomere Myopathy, centronuclear, X-linked 0 PE1 NX_Q13501 47687 440 5.1 5 PML body;Late endosome;Lysosome;Cytosol;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleus;Autophagosome;Sarcomere Myopathy, distal, with rimmed vacuoles;Paget disease of bone 3;Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 0 PE1 NX_Q13503 15564 144 4.29 12 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q13505 51463 466 9.8 1 Mitochondrion;Mitochondrion outer membrane;Membrane NA 1 PE1 NX_Q13506 54401 487 6.24 2 Nucleoplasm;Nucleus;Golgi apparatus;Cell membrane NA 0 PE1 NX_Q13507 96009 836 6.25 4 Membrane Spinocerebellar ataxia 41 6 PE1 NX_Q13508 43923 389 5.71 4 Cell membrane NA 0 PE1 NX_Q13509 50433 450 4.83 16 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 1;Fibrosis of extraocular muscles, congenital, 3A 0 PE1 NX_Q13510 44660 395 7.52 8 Lysosome Farber lipogranulomatosis;Spinal muscular atrophy with progressive myoclonic epilepsy 0 PE1 NX_Q13515 45880 415 5.41 3 Cytosol;Cytoskeleton;Cell cortex;Cell membrane Cataract 12, multiple types 0 PE1 NX_Q13516 32385 323 9.28 21 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q13519 20295 176 8.73 8 Secreted NA 0 PE1 NX_Q13520 29370 282 8.88 12 Cytoplasmic vesicle membrane NA 6 PE2 NX_Q13522 19011 171 5.9 12 NA NA 0 PE1 NX_Q13523 116987 1007 10.26 6 Nucleus speckle;Nucleus NA 0 PE1 NX_Q13526 18243 163 8.95 19 Nucleoplasm;Nucleus speckle;Nucleus;Cytosol;Cytoplasm NA 0 PE1 NX_Q13530 52580 473 7.43 20 Perinuclear region;Golgi apparatus membrane;Cell membrane NA 8 PE1 NX_Q13535 301367 2644 7.17 3 Nucleoplasm;PML body;Nucleus;Golgi apparatus;Chromosome Cutaneous telangiectasia and cancer syndrome, familial;Seckel syndrome 1 0 PE1 NX_Q13536 17231 156 6.39 1 Nucleus NA 0 PE2 NX_Q13541 12580 118 5.32 8 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 NX_Q13542 12939 120 6.16 10 Nucleoplasm;Mitochondrion NA 0 PE1 NX_Q13546 75931 671 5.92 6 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q13547 55103 482 5.31 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q13554 72678 666 6.87 7 Centrosome;Synapse;Cytoskeleton;Sarcoplasmic reticulum membrane Mental retardation, autosomal dominant 54 0 PE1 NX_Q13555 62607 558 7.9 10 Sarcoplasmic reticulum membrane NA 0 PE1 NX_Q13557 56369 499 6.81 4 Sarcolemma;Sarcoplasmic reticulum membrane NA 0 PE1 NX_Q13561 44231 401 5.1 12 Endosome;Centrosome;Membrane NA 0 PE1 NX_Q13562 39920 356 5.2 2 Cytoplasm;Nucleus Maturity-onset diabetes of the young 6;Diabetes mellitus, non-insulin-dependent 0 PE1 NX_Q13563 109691 968 5.49 4 Endoplasmic reticulum membrane;Basolateral cell membrane;Golgi apparatus;Cell membrane;Cilium membrane;Endoplasmic reticulum;Cytoplasmic vesicle membrane Polycystic kidney disease 2 with or without polycystic liver disease 6 PE1 NX_Q13564 60246 534 5.25 16 Cytoplasm;Cytoskeleton;Nucleus;Centrosome;Cell membrane NA 0 PE1 NX_Q13568 56044 498 5.54 7 Cytoplasm;Nucleus Rheumatoid arthritis;Systemic lupus erythematosus 10;Inflammatory bowel disease 14 0 PE1 NX_Q13569 46053 410 6.36 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q13571 29937 262 8.95 1 Cytosol;Lysosome membrane NA 5 PE1 NX_Q13572 45621 414 5.78 14 Mitochondrion NA 0 PE1 NX_Q13573 61494 536 9.52 14 Nucleoplasm;Nucleus NA 0 PE1 NX_Q13574 124128 1117 9.24 11 Cytoplasm;Nucleus;Nucleus speckle;Cell membrane;Lamellipodium NA 0 PE1 NX_Q13576 180578 1575 5.47 5 Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_Q13585 67369 617 7.64 X Nucleoplasm;Cell membrane NA 7 PE1 NX_Q13586 77423 685 6.19 11 Endoplasmic reticulum membrane;Cytoskeleton;Sarcoplasmic reticulum;Endoplasmic reticulum;Cell membrane Stormorken syndrome;Myopathy, tubular aggregate, 1;Immunodeficiency 10 1 PE1 NX_Q13588 25337 217 6.54 17 NA NA 0 PE1 NX_Q13591 120615 1074 7.03 5 Membrane NA 1 PE1 NX_Q13595 32689 282 11.27 7 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 NX_Q13596 59070 522 5.08 15 Endosome;trans-Golgi network membrane;Lysosome;Early endosome membrane;Endosome membrane;Lamellipodium NA 0 PE1 NX_Q13601 43665 381 9.78 12 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q13606 36049 314 8.25 11 Cell membrane NA 7 PE2 NX_Q13607 35350 317 8.65 7 Cell membrane NA 7 PE2 NX_Q13608 104061 980 5.96 6 Peroxisome membrane;Photoreceptor outer segment;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus Peroxisome biogenesis disorder complementation group 4;Peroxisome biogenesis disorder 4B;Heimler syndrome 2;Peroxisome biogenesis disorder 4A 0 PE1 NX_Q13609 35504 305 9.35 3 Nucleus;Golgi apparatus;Endoplasmic reticulum;Secreted Systemic lupus erythematosus 16 0 PE1 NX_Q13610 55828 501 4.6 12 Nucleolus;Nucleus;Chromosome;Golgi apparatus NA 0 PE1 NX_Q13613 74678 665 6.69 X Cytoplasm;Cell membrane;Microtubule organizing center NA 0 PE1 NX_Q13614 73381 643 7.02 11 Cytoplasmic vesicle;Cytoplasm;Early endosome membrane Charcot-Marie-Tooth disease 4B1 0 PE1 NX_Q13615 133619 1198 5.51 22 Nucleoplasm;Cytoplasm;Cytosol;Membrane NA 0 PE1 NX_Q13616 89679 776 8.19 7 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q13617 86983 745 6.46 10 Nucleoplasm NA 0 PE1 NX_Q13618 88930 768 8.68 2 Flagellum;Cytoplasm;Nucleus;Golgi apparatus Pseudohypoaldosteronism 2E 0 PE1 NX_Q13619 87680 759 8.29 13 NA NA 0 PE1 NX_Q13620 103982 913 7.01 X Nucleus Mental retardation, X-linked, syndromic, 15 0 PE1 NX_Q13621 121450 1099 7.18 15 Cytoplasmic vesicle;Nucleus;Membrane Bartter syndrome 1, antenatal 12 PE1 NX_Q13625 125616 1128 5.78 1 Cytosol;Perinuclear region;Nucleus;Cell junction NA 0 PE1 NX_Q13627 85584 763 8.9 21 Cytosol;Nucleus speckle;Nucleolus;Nucleus Mental retardation, autosomal dominant 7 0 PE1 NX_Q13630 35893 321 6.12 8 Cytosol;Nucleoplasm NA 0 PE1 NX_Q13634 88073 790 4.98 5 Cell membrane NA 1 PE1 NX_Q13635 160545 1447 6.42 9 Cell membrane;Golgi apparatus Holoprosencephaly 7;Basal cell nevus syndrome;Basal cell carcinoma 12 PE1 NX_Q13636 21569 194 6.59 18 trans-Golgi network membrane;Cytoplasm;Phagosome;trans-Golgi network;Early endosome;Phagosome membrane NA 0 PE1 NX_Q13637 24997 225 6.08 6 Melanosome;Cytosol;Phagosome;Mitochondrion outer membrane;Mitochondrion;Melanosome membrane;Phagosome membrane NA 0 PE1 NX_Q13639 43761 388 8.06 5 Endosome;Cell membrane NA 7 PE1 NX_Q13641 46032 420 6.35 6 Nucleoplasm;Cell membrane NA 1 PE1 NX_Q13642 36263 323 9.25 X Cytosol;Cytoplasm;Nucleus;Cell membrane Uruguay faciocardiomusculoskeletal syndrome;Myopathy, X-linked, with postural muscle atrophy;Reducing body myopathy, X-linked 1B, with late childhood or adult onset;Scapuloperoneal myopathy, X-linked dominant;Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset;Emery-Dreifuss muscular dystrophy 6, X-linked 0 PE1 NX_Q13643 31192 280 5.79 1 Cytoplasm;Nucleus NA 0 PE1 NX_Q13651 63003 578 5.23 11 Membrane Inflammatory bowel disease 28 1 PE1 NX_Q13670 28555 270 6.23 7 NA NA 0 PE5 NX_Q13671 84099 783 8.3 11 Cytoplasm;Cytoskeleton;Nucleus;Nucleus membrane;Membrane NA 0 PE1 NX_Q13683 128948 1181 5.47 12 Cytosol;Cell membrane;Membrane Muscular dystrophy congenital due to integrin alpha-7 deficiency 1 PE1 NX_Q13685 46751 434 4.29 2 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q13686 43832 389 6.61 14 Mitochondrion;Nucleus NA 0 PE1 NX_Q13698 212350 1873 6.17 1 Sarcolemma Thyrotoxic periodic paralysis 1;Malignant hyperthermia 5;Periodic paralysis hypokalemic 1 24 PE1 NX_Q13702 46328 412 8.48 11 Cytosol;Cytoskeleton;Postsynaptic cell membrane;Centrosome;Cell membrane Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Fetal akinesia deformation sequence 0 PE1 NX_Q13705 57724 512 5.46 3 Cytosol;Nucleus;Cell membrane Heterotaxy, visceral, 4, autosomal 1 PE1 NX_Q13724 91918 837 8.97 2 Endoplasmic reticulum membrane;Endoplasmic reticulum Type IIb congenital disorder of glycosylation 1 PE1 NX_Q13733 114166 1029 6.23 1 Cell membrane NA 10 PE1 NX_Q13740 65102 583 5.92 3 Axon;Dendrite;Cell membrane;Secreted NA 1 PE1 NX_Q13751 129572 1172 7.14 1 Mitochondrion;Nucleolus;Basement membrane Epidermolysis bullosa, junctional, Herlitz type;Amelogenesis imperfecta 1A;Generalized atrophic benign epidermolysis bullosa 0 PE1 NX_Q13753 130976 1193 5.83 1 Cytosol;Basement membrane Epidermolysis bullosa, junctional, Herlitz type 0 PE1 NX_Q13761 44356 415 9.53 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q13765 23384 215 4.52 12 Cytoplasm;Nucleus NA 0 PE1 NX_Q13769 78508 683 6.41 22 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q13772 69726 614 5.72 10 Cytosol;Nucleolus;Golgi apparatus NA 0 PE1 NX_Q13790 35399 326 5.42 12 Secreted NA 0 PE1 NX_Q13794 6030 54 10.3 18 Mitochondrion;Cytoplasmic vesicle NA 0 PE1 NX_Q13795 22614 201 7.5 20 Golgi apparatus;trans-Golgi network NA 0 PE1 NX_Q13796 176410 1616 6.64 X Apical cell membrane;Cytosol;Cell membrane;Cytoskeleton;Cell junction;Tight junction NA 0 PE1 NX_Q13797 114489 1035 5.76 3 Cytoplasmic vesicle;Nucleoplasm;Cell junction;Cell membrane;Membrane NA 1 PE1 NX_Q13813 284539 2472 5.22 9 Cytoplasmic vesicle;Cytoskeleton;Cell cortex Epileptic encephalopathy, early infantile, 5 0 PE1 NX_Q13822 98994 863 7.14 8 Cytoskeleton;Nucleus;Golgi apparatus;Secreted NA 0 PE1 NX_Q13823 83655 731 9.27 1 Nucleolus NA 0 PE1 NX_Q13825 35609 339 9.53 9 Mitochondrion 3-methylglutaconic aciduria 1 0 PE1 NX_Q13829 36204 316 8.26 17 Cytoplasm;Endosome;Nucleolus;Nucleus NA 0 PE1 NX_Q13835 82861 747 9.29 1 Nucleoplasm;Desmosome;Nucleus Ectodermal dysplasia-skin fragility syndrome 0 PE1 NX_Q13838 48991 428 5.44 6 Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 NX_Q13867 52562 455 5.87 17 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q13868 32789 293 7.06 9 Cytoplasm;Nucleolus;Nucleus Short stature, hearing loss, retinitis pigmentosa, and distinctive facies 0 PE1 NX_Q13873 115201 1038 5.82 2 Nucleoplasm;Cell membrane Pulmonary hypertension, primary, 1;Pulmonary venoocclusive disease 1, autosomal dominant 1 PE1 NX_Q13875 20959 183 11.35 3 Perinuclear region NA 0 PE1 NX_Q13882 51834 451 6.56 20 Ruffle;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus;Membrane NA 0 PE1 NX_Q13884 58061 538 8.81 8 Cytoskeleton;Cell junction;Sarcolemma NA 0 PE1 NX_Q13885 49907 445 4.78 6 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 5 0 PE1 NX_Q13886 27235 244 8.8 9 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q13887 50792 457 8.86 13 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 NX_Q13888 44419 395 6.28 5 Nucleus NA 0 PE1 NX_Q13889 34378 308 6.59 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q13895 49601 437 8.19 6 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q13901 16019 141 9 2 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q13905 120548 1077 5.64 9 Early endosome NA 0 PE1 NX_Q13907 26319 227 5.93 10 Peroxisome NA 0 PE1 NX_Q13936 248977 2221 6.33 12 Dendrite;Perikaryon;Sarcolemma;Cell membrane;Postsynaptic density Brugada syndrome 3;Timothy syndrome 24 PE1 NX_Q13938 30240 275 5.67 19 Cytosol;Nucleoplasm;Cell membrane;Cytoplasm NA 0 PE1 NX_Q13939 66582 588 8.49 9 Calyx NA 0 PE1 NX_Q13946 55505 482 7.1 8 Cytosol;Cytoplasm NA 0 PE1 NX_Q13948 77455 678 5.35 7 Golgi apparatus membrane NA 1 PE1 NX_Q13950 56648 521 9.03 6 Nucleoplasm;Nucleus Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly;Cleidocranial dysplasia 0 PE1 NX_Q13951 21508 182 6.23 16 Cytosol;Nucleus NA 0 PE1 NX_Q13952 50302 458 5.78 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q13956 9074 83 9.3 12 NA Cone dystrophy, retinal 3A 0 PE1 NX_Q13972 145234 1273 7.18 15 Golgi apparatus NA 0 PE1 NX_Q13976 76364 671 5.74 10 Cytosol;Cytoplasm;Cytoplasmic vesicle Aortic aneurysm, familial thoracic 8 0 PE1 NX_Q14002 29379 265 5.36 19 Apical cell membrane;Cell membrane NA 0 PE1 NX_Q14003 80578 757 6.08 19 Dendritic spine membrane;Cell cortex;Cell membrane;Axon;Dendrite;Presynaptic cell membrane;Perikaryon;Cytoskeleton Spinocerebellar ataxia 13 6 PE1 NX_Q14004 164923 1512 9.71 7 Nucleus speckle Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 PE1 NX_Q14005 141752 1332 8.34 15 Nucleus speckle;Secreted;Cytosol;Cytoplasm;Cell membrane;Nucleus NA 0 PE1 NX_Q14008 225495 2032 7.95 11 Kinetochore;Nucleolus;Cell membrane;Spindle pole;Spindle;Centrosome NA 0 PE1 NX_Q14011 18648 172 9.51 19 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q14012 41337 370 5.12 3 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q14019 15945 142 5.54 16 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q14028 139678 1251 4.76 16 Cytoplasmic vesicle;Cytosol;Membrane Retinitis pigmentosa 45 6 PE1 NX_Q14031 163807 1691 9.31 X Basement membrane;Endoplasmic reticulum Deafness, X-linked, 6 0 PE1 NX_Q14032 46299 418 6.5 9 Cytoplasmic vesicle;Cytoplasm Familial hypercholanemia 0 PE1 NX_Q14050 63616 684 7.58 20 Nucleoplasm;Cytoskeleton;Extracellular matrix Intervertebral disc disease;Multiple epiphyseal dysplasia 3 0 PE1 NX_Q14055 65131 689 9.23 1 Cytoplasmic vesicle;Nucleus;Extracellular matrix Intervertebral disc disease;Stickler syndrome 5;Multiple epiphyseal dysplasia 2 0 PE1 NX_Q14061 6915 63 6.8 3 Mitochondrion;Cytoplasm;Mitochondrion intermembrane space NA 0 PE1 NX_Q14088 26593 237 8.07 X Cytoplasmic vesicle;Cytoplasm;Cell membrane NA 0 PE1 NX_Q14093 39079 348 9.74 9 Calyx NA 0 PE1 NX_Q14094 42557 377 8.23 4 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q14103 38434 355 7.61 4 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q14106 36632 344 6.45 22 Cytosol;Cytoplasm NA 0 PE1 NX_Q14108 54290 478 5 4 Cytosol;Lysosome membrane Epilepsy, progressive myoclonic 4, with or without renal failure 2 PE1 NX_Q14112 151254 1375 5.09 14 Basement membrane;Cell membrane NA 0 PE1 NX_Q14114 105634 963 4.88 1 Cell membrane;Secreted Myocardial infarction 1 1 PE1 NX_Q14116 22326 193 4.54 11 Cytosol;Nucleus;Golgi apparatus;Secreted NA 0 PE1 NX_Q14117 56630 519 6.81 8 NA Dihydropyrimidinase deficiency 0 PE1 NX_Q14118 97441 895 8.71 3 Extracellular space;Nucleoplasm;Cell membrane;Cytoplasmic vesicle;Postsynaptic cell membrane;Sarcolemma;Cytoskeleton Muscular dystrophy-dystroglycanopathy limb-girdle C9;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9 1 PE1 NX_Q14119 56931 521 9.62 17 Nucleoplasm;Nucleus NA 0 PE1 NX_Q14123 80760 709 8.88 7 Nucleus NA 0 PE1 NX_Q14126 122294 1118 5.13 18 Desmosome;Cell junction;Cell membrane Cardiomyopathy, dilated 1BB;Arrhythmogenic right ventricular dysplasia, familial, 10 1 PE1 NX_Q14129 24989 220 7.02 22 Nucleus NA 0 PE1 NX_Q14134 65835 588 6.73 11 Nucleoplasm;Cytoplasm;Cytoskeleton;Lysosome NA 0 PE1 NX_Q14135 30948 290 8.49 3 Nucleolus;Nucleus NA 0 PE1 NX_Q14137 83630 746 5.8 8 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q14139 122561 1066 5.11 11 Nucleus speckle;Cytoplasm NA 0 PE1 NX_Q14140 33897 314 4.42 2 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q14141 49717 434 6.24 X Kinetochore;Flagellum;Cleavage furrow;Cytoplasm;Spindle;Midbody NA 0 PE1 NX_Q14142 49773 442 8.13 9 Cytosol;Nucleoplasm;Mitochondrion outer membrane NA 0 PE1 NX_Q14145 69666 624 6 19 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Microtubule organizing center NA 0 PE1 NX_Q14146 170544 1524 6.97 1 Nucleolus NA 0 PE1 NX_Q14147 128120 1143 7.37 19 Cytoskeleton;Nucleus NA 0 PE1 NX_Q14149 107113 939 5.42 21 Nucleoplasm;PML body;Mitochondrion;Nucleus matrix NA 0 PE1 NX_Q14151 107473 953 5.84 19 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q14152 166569 1382 6.38 10 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q14153 45768 422 6.33 10 Cytosol;Nucleus NA 0 PE1 NX_Q14154 55920 515 9.37 5 Nucleoplasm;Mitochondrion;Golgi apparatus NA 0 PE1 NX_Q14155 90012 803 6.66 13 Lamellipodium;Focal adhesion;Ruffle;Cell cortex NA 0 PE1 NX_Q14156 92924 821 6.24 8 Cytosol;Cell membrane NA 0 PE1 NX_Q14157 114535 1087 6.61 1 Cytosol;Nucleus speckle NA 0 PE1 NX_Q14159 100316 915 6.22 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q14160 174885 1630 5.01 8 Nucleoplasm;Cytoplasm;Cell membrane;Adherens junction;Lamellipodium;Cell junction Neural tube defects 0 PE1 NX_Q14161 84543 759 6.78 12 Cytoskeleton NA 0 PE1 NX_Q14162 87387 830 5.98 17 Membrane NA 1 PE1 NX_Q14164 80462 716 7.91 1 Cytosol;PML body;Nucleus;Cytoplasm NA 0 PE1 NX_Q14165 32234 292 5.27 12 Endoplasmic reticulum membrane NA 1 PE1 NX_Q14166 74404 644 5.33 22 Cytosol;Cell membrane NA 0 PE1 NX_Q14168 64581 576 6.32 17 Dendritic spine membrane;Cytosol;Dendrite;Membrane;Mitochondrion;Cytoskeleton NA 0 PE1 NX_Q14181 65948 598 5.13 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q14183 43959 400 6.83 16 Synaptosome;Synaptic vesicle membrane;Nucleolus;Lysosome;Nucleus;Cell junction NA 0 PE1 NX_Q14184 45922 412 8.25 17 Cytoplasmic granule;Cell membrane;Cytoplasm NA 0 PE1 NX_Q14185 215346 1865 7.29 10 Cytoplasm;Nucleus;Membrane NA 0 PE1 NX_Q14186 45070 410 5.74 13 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q14188 49236 446 6.17 3 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q14190 73219 667 9.03 21 Nucleoplasm;Nucleus NA 0 PE1 NX_Q14191 162461 1432 5.96 8 Nucleoplasm;Nucleus speckle;Nucleolus;Nucleus Werner syndrome;Colorectal cancer 0 PE1 NX_Q14192 32193 279 7.8 2 Cytoplasm;Cytoskeleton;Nucleus;Focal adhesion;Z line NA 0 PE1 NX_Q14194 62184 572 6.55 4 Cytosol;Cytoplasm;Spindle;Centrosome NA 0 PE1 NX_Q14195 61963 570 6.04 5 Cytosol;Cytoplasm;Growth cone NA 0 PE1 NX_Q14197 23630 206 10.09 17 Nucleoplasm;Mitochondrion NA 0 PE1 NX_Q14201 29116 252 9.12 21 NA NA 0 PE1 NX_Q14202 152379 1370 6.01 X Nucleoplasm;Nucleus NA 0 PE1 NX_Q14203 141695 1278 5.61 2 Cytosol;Cytoplasm;Cell cortex;Nucleus envelope;Centriole;Spindle;Cytoskeleton;Centrosome Perry syndrome;Amyotrophic lateral sclerosis;Neuronopathy, distal hereditary motor, 7B 0 PE1 NX_Q14204 532408 4646 6.01 14 Cytosol;Cytoplasm;Cytoskeleton;Centrosome Mental retardation, autosomal dominant 13;Charcot-Marie-Tooth disease 2O;Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant 0 PE1 NX_Q14206 21997 197 5.84 6 Mitochondrion;Nucleoplasm NA 0 PE1 NX_Q14207 154290 1427 5.63 11 Nucleoplasm;Cajal body;Nucleus NA 0 PE1 NX_Q14209 47506 437 4.75 1 Nucleus NA 0 PE1 NX_Q14210 13286 128 8.59 8 Cell membrane NA 0 PE1 NX_Q14213 25396 229 9.41 19 Secreted NA 0 PE1 NX_Q14232 33712 305 6.91 12 Cytosol Leukodystrophy with vanishing white matter 0 PE1 NX_Q14236 17843 149 10.16 X NA NA 0 PE2 NX_Q14240 46402 407 5.33 3 NA NA 0 PE1 NX_Q14241 89909 798 9.59 1 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 NX_Q14242 43201 412 4.35 12 Membrane NA 1 PE1 NX_Q14244 84052 749 9.62 6 Cytosol;Perinuclear region;Basolateral cell membrane;Cytoskeleton NA 0 PE1 NX_Q14246 97683 886 6.42 19 Cell membrane NA 7 PE1 NX_Q14247 61586 550 5.24 11 Ruffle;Golgi apparatus;Cytosol;Cell cortex;Clathrin-coated pit;Cell membrane;Cytoplasmic vesicle;Dendrite;Focal adhesion;Cell projection;Dendritic spine;Lamellipodium;Cytoskeleton;Podosome;Cell junction NA 0 PE1 NX_Q14249 32620 297 9.53 9 Mitochondrion NA 0 PE1 NX_Q14254 47064 428 5.19 17 Caveola;Endosome;Cell membrane;Membrane NA 0 PE1 NX_Q14257 36876 317 4.26 15 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 NX_Q14258 70973 630 8.44 17 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q14264 67942 604 6.84 7 Cytoplasmic vesicle;Virion NA 0 PE1 NX_Q14289 115875 1009 5.91 8 Cytosol;Cytoplasm;Cell cortex;Perinuclear region;Cell membrane;Focal adhesion;Nucleus;Lamellipodium NA 0 PE1 NX_Q14296 61104 549 9.96 7 Mitochondrion matrix;Nucleus speckle;Mitochondrion NA 0 PE1 NX_Q14314 50229 439 7.09 7 Secreted NA 0 PE1 NX_Q14315 291022 2725 5.65 7 Cytosol;Cytoplasm;Cell membrane;Membrane;Cytoskeleton;Z line Cardiomyopathy, familial hypertrophic 26;Myopathy, myofibrillar, 5;Myopathy, distal, 4;Cardiomyopathy, familial restrictive 5 0 PE1 NX_Q14318 44562 412 4.78 19 Cytosol;Mitochondrion;Endoplasmic reticulum;Mitochondrion membrane NA 1 PE1 NX_Q14320 40242 339 6.39 X Nucleoplasm;Nucleus NA 0 PE1 NX_Q14324 128072 1141 7.44 19 NA NA 0 PE1 NX_Q14330 38134 331 9.38 13 Cytoplasmic vesicle membrane;Cell membrane NA 7 PE1 NX_Q14331 29172 258 9.1 4 Cajal body;Nucleolus;Z line;Cytoplasm Facioscapulohumeral muscular dystrophy 1 0 PE1 NX_Q14332 63554 565 8.47 17 Nucleus;Cell junction;Cell membrane;Membrane NA 7 PE1 NX_Q14344 44050 377 8.12 17 Cytosol;Cytoplasm;Nucleus;Melanosome;Cell membrane NA 0 PE1 NX_Q14353 26318 236 5.74 19 NA Cerebral creatine deficiency syndrome 2 0 PE1 NX_Q14376 38282 348 6.26 1 Cytosol;Nucleus;Cell membrane Epimerase-deficiency galactosemia 0 PE1 NX_Q14390 23661 218 5.11 22 NA NA 0 PE2 NX_Q14392 71979 662 5.73 11 Nucleoplasm;Cell surface;Cell membrane NA 1 PE1 NX_Q14393 74925 678 5.46 13 Cytosol;Secreted;Microtubule organizing center NA 0 PE1 NX_Q14397 68685 625 6.24 2 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q14406 25391 222 5.56 17 Secreted NA 0 PE2 NX_Q14409 60598 553 6 4 Cytoplasm;Mitochondrion outer membrane NA 0 PE1 NX_Q14410 60594 553 5.57 4 Cytoplasm;Mitochondrion outer membrane NA 0 PE1 NX_Q14416 95568 872 8.5 3 Dendrite;Synapse;Cell membrane NA 7 PE1 NX_Q14432 124979 1141 5.66 12 Cytosol;Membrane Hypertension and brachydactyly syndrome 6 PE1 NX_Q14435 72610 633 8.2 2 Golgi stack membrane;Golgi apparatus Tumoral calcinosis, hyperphosphatemic, familial, 1 1 PE1 NX_Q14439 56998 515 8.81 15 Cell membrane NA 7 PE1 NX_Q14442 21081 188 6.29 14 Cytoplasm Glycosylphosphatidylinositol biosynthesis defect 17 0 PE1 NX_Q14444 78366 709 5.14 11 Cytosol;Cytoplasm;Dendrite NA 0 PE1 NX_Q14449 60988 540 8.56 2 Cytosol;Nucleoplasm;Endosome membrane;Cytoplasm NA 0 PE1 NX_Q14451 59681 532 8.82 17 Cytoplasm;Focal adhesion;Cell projection;Cell membrane;Cytoplasmic granule NA 0 PE1 NX_Q14457 51896 450 4.83 17 Endoplasmic reticulum membrane;Endosome;trans-Golgi network membrane;Cytoplasm;Endosome membrane;Nucleus;Autophagosome;Mitochondrion;Mitochondrion membrane NA 0 PE1 NX_Q14469 29541 280 9.66 3 Nucleus NA 0 PE1 NX_Q14493 31286 270 7.06 4 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q14494 84704 772 4.52 17 Endoplasmic reticulum membrane;Cytosol;Nucleus NA 1 PE1 NX_Q14498 59380 530 10.1 20 Nucleoplasm;Nucleus speckle;Cytoskeleton;Nucleus;Microtubule organizing center NA 0 PE1 NX_Q14500 49001 433 5.63 17 Cell membrane;Membrane NA 2 PE1 NX_Q14507 17646 147 8.64 14 Secreted NA 0 PE1 NX_Q14508 12993 124 4.69 20 Cytosol;Secreted NA 0 PE1 NX_Q14511 92861 834 6.23 6 Golgi apparatus;Nucleoplasm;Cytoplasm;Cell cortex;Cell membrane;Cytosol;Focal adhesion;Nucleus;Lamellipodium;Spindle NA 0 PE1 NX_Q14512 26264 234 9.28 4 Extracellular space;Cell membrane NA 0 PE1 NX_Q14515 75208 664 4.71 4 Extracellular matrix NA 0 PE1 NX_Q14517 506273 4588 4.85 4 Perinuclear region;Nucleus;Cell membrane NA 1 PE1 NX_Q14520 62672 560 6.09 10 Secreted Thyroid cancer, non-medullary, 5 0 PE1 NX_Q14524 226940 2016 5.34 3 Perinuclear region;Cell membrane Sudden infant death syndrome;Familial paroxysmal ventricular fibrillation 1;Sick sinus syndrome 1;Brugada syndrome 1;Progressive familial heart block 1A;Atrial standstill 1;Atrial fibrillation, familial, 10;Cardiomyopathy, dilated 1E;Long QT syndrome 3 24 PE1 NX_Q14525 46214 404 4.81 17 NA NA 0 PE1 NX_Q14526 76508 733 6.38 17 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q14527 113929 1009 8.82 3 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q14532 50343 448 4.78 17 NA NA 0 PE1 NX_Q14533 54928 505 5.4 12 NA Monilethrix 0 PE1 NX_Q14534 63923 574 8.8 8 Cytosol;Endoplasmic reticulum membrane;Cytoplasmic vesicle;Microsome membrane NA 4 PE1 NX_Q14541 45877 408 8.68 8 Nucleus NA 0 PE1 NX_Q14542 50113 456 5.76 11 Nucleoplasm;Basolateral cell membrane;Nucleus membrane NA 11 PE1 NX_Q14549 37629 363 7.04 7 Nucleus NA 0 PE1 NX_Q14554 59594 519 8.08 3 Nucleoplasm;Endoplasmic reticulum lumen;Nucleolus;Golgi apparatus;Cell membrane NA 0 PE1 NX_Q14558 39394 356 6.73 17 Cytosol NA 0 PE1 NX_Q14562 139315 1220 8.54 17 Nucleoplasm;Nucleus NA 0 PE1 NX_Q14563 88889 771 7.05 7 Nucleoplasm;Cytoplasmic vesicle;Secreted Hypogonadotropic hypogonadism 16 with or without anosmia 0 PE1 NX_Q14565 37681 340 5.62 22 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q14566 92889 821 5.29 2 Nucleoplasm;Nucleus NA 0 PE1 NX_Q14568 39365 343 4.57 11 Cytoplasm NA 0 PE1 NX_Q14571 308064 2701 6.01 12 Endoplasmic reticulum membrane;Nucleus;Endoplasmic reticulum Anhidrosis, isolated, with normal sweat glands 6 PE1 NX_Q14573 304106 2671 6.05 6 Endoplasmic reticulum membrane;Cytoplasmic vesicle NA 6 PE1 NX_Q14574 99969 896 5.77 18 Desmosome;Cell junction;Cell membrane Hypotrichosis and recurrent skin vesicles 1 PE1 NX_Q14576 39547 367 9.33 19 NA NA 0 PE1 NX_Q14582 23528 209 6.46 4 Cytosol;Nucleus NA 0 PE1 NX_Q14584 62116 549 8.93 19 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_Q14585 55383 488 8.7 19 Nucleus NA 0 PE1 NX_Q14586 87376 743 9.14 16 Nucleoplasm;Nucleus NA 0 PE1 NX_Q14587 108374 947 9.14 12 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q14588 80560 700 8.96 19 Nucleus NA 0 PE1 NX_Q14590 83977 738 8.91 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q14592 63665 562 6.55 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q14593 64971 569 9.62 7 Nucleoplasm;Nucleus NA 0 PE1 NX_Q14596 107413 966 5.03 17 Lysosome;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;Autophagosome;M line NA 0 PE1 NX_Q14602 4055 36 10.27 3 NA NA 0 PE5 NX_Q14623 45251 411 8.98 2 Extracellular space;Cell membrane Acrocapitofemoral dysplasia;Brachydactyly A1 0 PE1 NX_Q14624 103357 930 6.51 3 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q14626 45222 422 8.03 9 Membrane Craniosynostosis and dental anomalies 1 PE1 NX_Q14627 44176 380 4.84 X Membrane NA 1 PE1 NX_Q14641 15445 139 9.28 9 Secreted NA 0 PE1 NX_Q14642 47820 412 6.58 10 Cytosol;Membrane NA 0 PE1 NX_Q14643 313929 2758 5.71 3 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Perinuclear region;Secretory vesicle membrane Spinocerebellar ataxia 29;Spinocerebellar ataxia 15;Gillespie syndrome 6 PE1 NX_Q14644 95699 834 6.76 13 Cell membrane NA 0 PE1 NX_Q14651 70253 629 5.28 3 Cytoplasm NA 0 PE1 NX_Q14653 47219 427 5.17 19 Cytosol;Cytoplasm;Nucleus Encephalopathy, acute, infection-induced, Herpes-specific, 7 0 PE1 NX_Q14654 43541 390 8.15 11 Membrane Familial hyperinsulinemic hypoglycemia 2;Diabetes mellitus, permanent neonatal;Transient neonatal diabetes mellitus 3;Maturity-onset diabetes of the young 13 2 PE1 NX_Q14656 29148 261 9.05 X Cytosol;Nucleolus;Golgi apparatus;Membrane NA 6 PE2 NX_Q14657 14804 143 8.88 X Nucleoplasm;Cytoplasm;Nucleus Galloway-Mowat syndrome 2, X-linked 0 PE1 NX_Q14667 253700 2235 6.71 17 Cytosol;Nucleus speckle;Secreted NA 0 PE1 NX_Q14669 220434 1992 8.76 2 Nucleoplasm;Nucleus speckle Mental retardation, autosomal dominant 49 0 PE1 NX_Q14671 126473 1186 6.35 1 Cytosol;Cytoplasm;P-body;Nucleus;Cytoplasmic granule Spinocerebellar ataxia 47 0 PE1 NX_Q14674 233175 2120 7.65 12 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q14676 226666 2089 5.35 6 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q14677 68259 625 6.01 5 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Perinuclear region;Membrane;Clathrin-coated vesicle NA 0 PE1 NX_Q14678 147289 1352 5.18 9 Cytoplasm;Nucleus;Ruffle membrane;Cell membrane Cerebral palsy, spastic quadriplegic 2 0 PE1 NX_Q14679 133378 1199 9.04 2 Mitochondrion;Cilium;Cilium basal body NA 0 PE1 NX_Q14680 74642 651 8.92 9 Cell membrane NA 0 PE1 NX_Q14681 28527 263 5.21 17 NA NA 0 PE1 NX_Q14683 143233 1233 7.51 X Cytosol;Nucleoplasm;Kinetochore;Nucleus;Chromosome Cornelia de Lange syndrome 2 0 PE1 NX_Q14684 84428 758 9.77 21 Nucleoplasm;Nucleolus;Chromosome NA 0 PE1 NX_Q14686 219145 2063 9.4 20 Nucleoplasm;Nucleus NA 0 PE1 NX_Q14687 136164 1217 7.36 16 Nucleoplasm;Mitochondrion NA 0 PE1 NX_Q14689 170369 1571 8.35 21 Nucleus NA 0 PE1 NX_Q14690 208701 1871 8.99 10 Cytoplasmic vesicle;Nucleolus NA 0 PE1 NX_Q14691 22988 196 6.96 20 Nucleoplasm;Nucleus Immunodeficiency 55 0 PE1 NX_Q14692 145807 1282 6.04 10 Nucleolus;Nucleus Aplasia cutis congenita, non-syndromic 0 PE1 NX_Q14693 98664 890 6.14 2 Endoplasmic reticulum membrane;Cytosol;Nucleolus;Nucleus;Nucleus membrane Myoglobinuria, acute recurrent, autosomal recessive 0 PE1 NX_Q14694 87134 798 5.19 16 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Early endosome NA 0 PE1 NX_Q14695 14937 138 9.04 7 NA NA 0 PE2 NX_Q14696 26077 234 7.6 15 Cytosol;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q14697 106874 944 5.74 11 Cytosol;Golgi apparatus;Melanosome;Endoplasmic reticulum;Nucleus membrane Polycystic kidney disease 3 with or without polycystic liver disease 0 PE1 NX_Q14699 63146 578 5.46 3 Cytoplasm;Endosome;Membrane raft;Cell membrane;Early endosome NA 0 PE1 NX_Q14703 117749 1052 8.91 16 Endoplasmic reticulum membrane;Golgi apparatus membrane NA 1 PE1 NX_Q14714 26618 243 8.12 12 Nucleus membrane;Cell membrane;Postsynaptic cell membrane;Endoplasmic reticulum;Sarcolemma;Nucleus NA 4 PE1 NX_Q14721 95878 858 8.32 20 Synaptosome;Synapse;Perikaryon;Cell membrane;Axon;Dendrite;Postsynaptic cell membrane;Sarcolemma;Membrane;Lateral cell membrane Epileptic encephalopathy, early infantile, 26 6 PE1 NX_Q14722 46563 419 9.1 3 Cytoplasm;Cell membrane;Membrane NA 0 PE1 NX_Q14728 48339 455 9.68 4 Nucleoplasm;Nucleus membrane;Membrane NA 11 PE1 NX_Q14738 69992 602 8.24 6 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Mental retardation, autosomal dominant 35 0 PE1 NX_Q14739 70703 615 9.41 1 Nucleus inner membrane;Nucleus membrane Reynolds syndrome;Pelger-Huet anomaly with mild skeletal anomalies;Pelger-Huet anomaly;Greenberg dysplasia 8 PE1 NX_Q14746 83208 738 6.2 1 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2Q 0 PE1 NX_Q14749 32742 295 6.55 6 Cytosol;Cytoplasm Glycine N-methyltransferase deficiency 0 PE1 NX_Q14761 21196 206 4.39 11 Membrane NA 1 PE1 NX_Q14764 99327 893 5.34 16 Cytosol;Cytoplasm;Nuclear pore complex;Perinuclear region NA 0 PE1 NX_Q14765 85941 748 6.2 2 Cytoplasm;Nucleus Rheumatoid arthritis;Systemic lupus erythematosus 11 0 PE1 NX_Q14766 186796 1721 5.63 2 Cytosol;Extracellular matrix;Secreted NA 0 PE1 NX_Q14767 195052 1821 5.06 14 Nucleus;Extracellular matrix Glaucoma 3, primary congenital, D;Weill-Marchesani syndrome 3;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 0 PE1 NX_Q14773 29265 271 10.13 19 Cell membrane;Secreted NA 1 PE1 NX_Q14774 50789 488 8.7 1 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q14781 56081 532 10.02 17 Nucleoplasm;Nucleus;Chromosome 46,XY sex reversal 5 0 PE1 NX_Q14789 376019 3259 4.96 3 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q14790 55391 479 5 2 Nucleoplasm;Cytoplasm;Cytosol Caspase-8 deficiency 0 PE1 NX_Q147U1 60552 533 9.21 19 Cytoskeleton;Nucleus NA 0 PE1 NX_Q147U7 24598 214 9.2 3 Membrane NA 1 PE2 NX_Q147X3 39320 362 5.38 14 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q14802 9263 87 6.8 19 Cell membrane NA 1 PE1 NX_Q14807 73262 665 9.5 16 Nucleus speckle;Cytoskeleton;Nucleus Spondyloepimetaphyseal dysplasia with joint laxity, 2 0 PE1 NX_Q14814 55938 521 7.73 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q14831 102251 915 8.2 3 Cytosol;Cell membrane NA 7 PE1 NX_Q14832 98879 879 7.93 7 Cell membrane NA 7 PE1 NX_Q14833 101868 912 9.07 6 Cell membrane NA 7 PE1 NX_Q14839 218005 1912 5.62 12 Nucleus;Centrosome Sifrim-Hitz-Weiss syndrome 0 PE1 NX_Q14847 29717 261 6.61 17 Cytosol;Cytoplasm;Cell cortex;Cell membrane;Focal adhesion;Cytoskeleton NA 0 PE1 NX_Q14849 50502 445 8.53 17 Late endosome membrane NA 4 PE1 NX_Q14863 32645 301 9.24 12 Cytoskeleton;Nucleus NA 0 PE1 NX_Q14865 132375 1188 8.89 10 Cytosol;Nucleoplasm;Nucleus;Cell membrane;Endoplasmic reticulum Leukemia, acute lymphoblastic 0 PE1 NX_Q14872 80957 753 5.14 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q14894 33776 314 5.06 16 Cytosol;Cytoplasm Deafness, autosomal dominant, 40 0 PE1 NX_Q14896 140762 1274 6.24 11 NA Cardiomyopathy, dilated 1MM;Cardiomyopathy, familial hypertrophic 4;Left ventricular non-compaction 10 0 PE1 NX_Q14914 35870 329 8.45 9 Cytoplasm NA 0 PE1 NX_Q14916 51132 467 8.89 6 Apical cell membrane;Golgi apparatus NA 10 PE1 NX_Q14919 22350 205 5.04 11 Cytosol;Nucleus NA 0 PE1 NX_Q14929 68488 603 9.36 9 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 NX_Q14934 95449 902 5.29 14 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q14938 55098 502 8.9 19 Nucleus Sotos syndrome 2;Marshall-Smith syndrome 0 PE1 NX_Q14940 99011 896 7.33 16 Cytosol;Nucleoplasm;Membrane NA 12 PE1 NX_Q14943 42475 382 9.59 19 Cell membrane NA 1 PE1 NX_Q14952 33717 304 6.1 19 Cell membrane NA 1 PE2 NX_Q14953 33698 304 6.26 19 Cell membrane NA 1 PE1 NX_Q14954 33618 304 6.09 19 Cell membrane NA 1 PE1 NX_Q14956 63923 572 6.17 7 Early endosome membrane;Cell membrane;Melanosome membrane Amyloidosis, primary localized cutaneous, 3 1 PE1 NX_Q14957 134209 1233 8.82 17 Postsynaptic cell membrane;Cell membrane NA 3 PE1 NX_Q14964 25007 217 7.57 11 Phagosome membrane;Cell membrane;Phagosome;Lysosome NA 0 PE1 NX_Q14966 220625 1978 6.02 2 Nucleoplasm;Nucleus speckle;Cytoplasmic vesicle NA 0 PE1 NX_Q14973 38119 349 9.07 14 Membrane NA 8 PE1 NX_Q14974 97170 876 4.68 17 Nucleoplasm;Cytoplasm;Cytosol;Nucleus envelope;Nucleus membrane NA 0 PE1 NX_Q14978 73603 699 9.46 10 Cytoplasm;Nucleolus NA 0 PE1 NX_Q14980 238260 2115 5.63 11 Nucleoplasm;Cell cortex;Cell membrane;Spindle pole;Cytosol;Nucleus matrix;Nucleus;Cytoskeleton;Centrosome;Chromosome;Lateral cell membrane NA 0 PE1 NX_Q14982 38008 345 6.45 11 Cell membrane Ovarian cancer 0 PE1 NX_Q14990 28366 250 8.46 8 NA NA 0 PE1 NX_Q14993 115221 1142 8.57 6 Extracellular matrix NA 0 PE1 NX_Q14994 39942 352 8.55 1 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q14995 64625 579 8.04 3 Nucleoplasm;Nucleus NA 0 PE1 NX_Q14997 211334 1843 6.45 2 Cytosol;Nucleus speckle;Nucleus;Nucleoplasm NA 0 PE1 NX_Q14999 191161 1698 5.57 6 Cytoplasm;Perinuclear region;Centrosome;Golgi apparatus 3M syndrome 1 0 PE1 NX_Q149M9 174552 1564 6.28 19 Cytosol NA 0 PE1 NX_Q149N8 193079 1683 7.3 6 Mitochondrion NA 0 PE1 NX_Q14BN4 95198 828 5.35 3 Sarcolemma;Centrosome;Endoplasmic reticulum NA 1 PE1 NX_Q14C86 164980 1478 5.09 9 Cytosol;Endosome;Membrane NA 0 PE1 NX_Q14C87 122309 1099 5.5 12 Membrane NA 1 PE1 NX_Q14CB8 55756 494 9.41 10 Nucleus;Cell membrane NA 0 PE1 NX_Q14CM0 144379 1322 5.12 X Dendritic spine Mental retardation, X-linked 104 0 PE1 NX_Q14CN2 101283 919 5.27 1 Apical cell membrane;Cell membrane;Secreted NA 1 PE1 NX_Q14CN4 55877 511 6.53 12 NA NA 0 PE1 NX_Q14CS0 37077 331 5.49 8 Golgi apparatus;Cytosol;Endoplasmic reticulum;Nucleoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q14CW9 38651 347 6.62 17 Nucleus speckle;Nucleus;Cell membrane NA 0 PE1 NX_Q14CX5 57381 517 8.21 10 Cytosol;Golgi apparatus;Membrane NA 11 PE2 NX_Q14CX7 112292 972 6.21 12 Cytosol;Cytoplasm;Golgi apparatus NA 0 PE1 NX_Q14CZ0 30926 275 7.77 16 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 NX_Q14CZ7 75689 662 8.62 5 Mitochondrion;Nucleus NA 0 PE1 NX_Q14CZ8 46026 416 9.2 11 Cytoplasmic vesicle;Cytoplasm;Membrane Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A;Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B 1 PE1 NX_Q14D04 94745 833 6.26 3 Cytosol;Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_Q14D33 60488 572 6.12 2 Membrane NA 1 PE1 NX_Q14DG7 119477 1078 4.63 12 Membrane NA 1 PE1 NX_Q15003 82563 741 4.92 2 Cytosol;Cytoplasm;Nucleus;Chromosome Microcephaly 23, primary, autosomal recessive 0 PE1 NX_Q15004 11986 111 9.85 15 Perinuclear region;Nucleus;Centrosome NA 0 PE1 NX_Q15005 25003 226 8.69 11 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Cell membrane;Microsome membrane NA 2 PE1 NX_Q15006 34834 297 6.15 8 Cytoplasm;Nucleus NA 0 PE1 NX_Q15007 44244 396 5.12 6 Nucleoplasm;Nucleus speckle;Cytoplasm NA 0 PE1 NX_Q15008 45531 389 5.45 3 Cytoplasmic vesicle;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q15011 43720 391 5.11 16 Endoplasmic reticulum membrane;Cytosol;Cell membrane NA 2 PE1 NX_Q15012 26801 233 6.1 2 Cytoplasmic vesicle;Cell membrane;Golgi apparatus;Endomembrane system NA 4 PE1 NX_Q15013 31052 274 5.94 6 Spindle;Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 NX_Q15014 32308 288 9.72 X Nucleus NA 0 PE1 NX_Q15018 46901 415 5.83 10 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Spindle pole NA 0 PE1 NX_Q15019 41487 361 6.15 2 Kinetochore;Cytoskeleton;Flagellum;Cleavage furrow;Cytoplasm;Cell cortex;Cilium membrane;Nucleus;Spindle;Midbody NA 0 PE1 NX_Q15020 109935 963 5.45 12 Nucleoplasm;Cajal body;Nucleus speckle;Cytoplasm NA 0 PE1 NX_Q15021 157182 1401 6.19 12 Cytosol;Cytoplasm;Nucleus;Chromosome Microcephaly 21, primary, autosomal recessive 0 PE1 NX_Q15022 83055 739 8.98 17 Nucleolus;Nucleus NA 0 PE1 NX_Q15024 31821 291 5.08 3 Nucleus speckle;Nucleolus;Nucleus;Cytoplasm NA 0 PE1 NX_Q15025 71864 636 6.23 5 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q15027 81536 740 7.6 17 Cytoplasm;Recycling endosome membrane;Golgi apparatus NA 0 PE1 NX_Q15029 109436 972 4.84 17 Nucleoplasm;Cytosol;Nucleus Mandibulofacial dysostosis with microcephaly 0 PE1 NX_Q15031 101976 903 8.46 3 Mitochondrion;Mitochondrion matrix;Nucleoplasm Hydrops, lactic acidosis, and sideroblastic anemia;Perrault syndrome 4 0 PE1 NX_Q15032 120696 1099 8.91 2 Nucleoplasm;Cytosol NA 0 PE1 NX_Q15034 117188 1050 5.86 4 Cytoplasmic vesicle;Cytoplasm;Cytosol NA 0 PE1 NX_Q15035 43328 370 9.32 6 Cytosol;Membrane NA 8 PE1 NX_Q15036 52901 470 7.07 2 Cytoplasmic vesicle;Cytoplasm;Cytoplasmic vesicle membrane;Early endosome NA 0 PE1 NX_Q15038 17319 168 6.69 12 Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 NX_Q15040 23198 202 8.78 22 Cytoplasm;Cell membrane NA 0 PE1 NX_Q15041 23363 203 9.38 16 Endoplasmic reticulum membrane;Cytoplasm;Cell membrane;Endoplasmic reticulum;Endomembrane system Spastic paraplegia 61, autosomal recessive 3 PE1 NX_Q15042 110524 981 5.38 2 Cytosol;Nucleoplasm;Cytoplasm Warburg micro syndrome 1 0 PE1 NX_Q15043 54212 492 5.16 8 Cytoplasm;Endoplasmic reticulum;Golgi apparatus;Cell membrane;Lamellipodium Hyperostosis cranialis interna;Hypermanganesemia with dystonia 2 6 PE1 NX_Q15046 68048 597 5.94 16 Secreted;Cytosol;Cytoplasm;Cell membrane;Nucleus;Mitochondrion Charcot-Marie-Tooth disease, recessive, intermediate type, B;Deafness, autosomal recessive, 89 0 PE1 NX_Q15047 143157 1291 5.74 1 Nucleoplasm;Cytosol;Nucleus;Chromosome NA 0 PE1 NX_Q15048 54513 493 6.43 8 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 NX_Q15049 41141 377 7.46 22 Perinuclear region;Endoplasmic reticulum;Cell membrane;Membrane Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 8 PE1 NX_Q15050 41193 365 10.69 8 Nucleolus NA 0 PE1 NX_Q15051 68929 598 9.19 3 Centriole;Spindle;Cytoskeleton;Centrosome Leber congenital amaurosis 10;Senior-Loken syndrome 5 0 PE1 NX_Q15052 87499 776 5.79 X Cytosol;Lamellipodium Mental retardation, X-linked 46 0 PE1 NX_Q15053 11435 99 9.54 1 Membrane NA 1 PE1 NX_Q15054 51400 466 9.38 11 Cytoplasm;Nucleus NA 0 PE1 NX_Q15056 27385 248 6.67 7 Cytosol;Cytoplasm;Perinuclear region;Nucleus;Nucleoplasm NA 0 PE1 NX_Q15057 88029 778 6.38 3 Endosome membrane;Endosome NA 0 PE1 NX_Q15058 186492 1648 8.06 1 Cytosol;Cytoplasm;Midbody ring;Nucleus;Spindle;Midbody Microcephaly 20, primary, autosomal recessive;Meckel syndrome 12 0 PE1 NX_Q15059 79542 726 9.39 9 Nucleus NA 0 PE1 NX_Q15061 74891 677 5.37 2 Nucleolus;Nucleus NA 0 PE1 NX_Q15063 93314 836 7.27 13 Nucleoplasm;Extracellular matrix;Golgi apparatus;Secreted NA 0 PE1 NX_Q15067 74424 660 8.35 17 Cytoplasmic vesicle;Nucleus;Peroxisome Adrenoleukodystrophy, pseudoneonatal 0 PE1 NX_Q15070 48548 435 9.53 14 Mitochondrion;Mitochondrion inner membrane NA 5 PE1 NX_Q15072 33308 292 9.15 19 Nucleolus;Nucleus NA 0 PE1 NX_Q15075 162466 1411 5.55 12 Cytoplasmic vesicle;Cytoplasm;Early endosome membrane;Endoplasmic reticulum NA 0 PE1 NX_Q15077 36429 328 9.61 11 Cell membrane NA 7 PE1 NX_Q15078 34060 307 9.44 17 Cytoplasmic vesicle;Nucleoplasm;Perinuclear region;Nucleus;Cell membrane NA 0 PE1 NX_Q15080 39032 339 6.4 22 Endosome membrane;Cytosol;Membrane Granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive 0 PE1 NX_Q15084 48121 440 4.95 2 Cytosol;Endoplasmic reticulum lumen;Melanosome;Cell membrane;Endoplasmic reticulum NA 0 PE1 NX_Q15102 25734 231 6.33 19 Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q15109 42803 404 5.83 6 Nucleolus;Cell junction;Cell membrane;Secreted NA 1 PE1 NX_Q15111 122728 1095 5.46 2 Cytoplasm NA 0 PE1 NX_Q15113 47972 449 7.41 7 Cytoplasmic vesicle;Golgi apparatus;Secreted NA 0 PE1 NX_Q15116 31647 288 8.25 2 Membrane Systemic lupus erythematosus 2 1 PE1 NX_Q15118 49244 436 8.92 2 Mitochondrion matrix;Mitochondrion;Nucleolus NA 0 PE1 NX_Q15119 46154 407 6.14 17 Mitochondrion;Mitochondrion matrix;Nucleoplasm NA 0 PE1 NX_Q15120 46939 406 8.46 X Mitochondrion matrix;Mitochondrion;Nucleolus Charcot-Marie-Tooth disease, X-linked dominant, 6 0 PE1 NX_Q15121 15040 130 4.93 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q15124 62225 567 6.81 9 Adherens junction;Cytoskeleton NA 0 PE1 NX_Q15125 26353 230 7.76 X Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nucleus envelope;Endoplasmic reticulum MEND syndrome;Chondrodysplasia punctata 2, X-linked dominant 4 PE1 NX_Q15126 21995 192 5.56 1 Cytosol Porokeratosis 1, multiple types 0 PE1 NX_Q15131 41038 360 9.06 16 Nucleoplasm;Midbody ring;Midbody;Cilium basal body Al Kaissi syndrome 0 PE1 NX_Q15139 101704 912 6.16 14 Cytosol;Cytoplasm;trans-Golgi network;Cell membrane Congenital heart defects and ectodermal dysplasia 0 PE1 NX_Q15147 134464 1175 6.47 20 Nucleoplasm;Cytoskeleton Auriculocondylar syndrome 2 0 PE1 NX_Q15149 531791 4684 5.74 8 Cytosol;Cytoplasm;Focal adhesion;Hemidesmosome;Cytoskeleton Limb-girdle muscular dystrophy 2Q;Epidermolysis bullosa simplex, Ogna type;Epidermolysis bullosa simplex, with muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia 0 PE1 NX_Q15154 228544 2024 4.95 8 Nucleus membrane;Cytosol;Cytoplasmic granule;Centriolar satellite;Cytoskeleton;Centrosome;Cilium basal body NA 0 PE1 NX_Q15155 134324 1222 5.54 16 Endoplasmic reticulum;Membrane NA 1 PE1 NX_Q15165 39381 354 5.33 7 Membrane NA 0 PE1 NX_Q15166 39607 354 5.24 7 Extracellular space NA 0 PE1 NX_Q15170 18354 157 11.2 X Nucleoplasm;Nucleus NA 0 PE1 NX_Q15172 56194 486 6.28 1 Cytosol;Cytoplasm;Centromere;Nucleus NA 0 PE1 NX_Q15173 57393 497 6.27 11 Cytoplasm NA 0 PE1 NX_Q15181 32660 289 5.54 10 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q15185 18697 160 4.35 12 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q15195 10915 96 6.11 2 Secreted NA 0 PE2 NX_Q15198 41861 375 8.75 8 Nucleolus;Nucleus;Golgi apparatus;Secreted Colorectal cancer 0 PE1 NX_Q15208 54190 465 6.7 6 Cytoplasm;Nucleus NA 0 PE1 NX_Q15223 57158 517 5.77 11 Presynaptic cell membrane;Cell membrane;Secreted Non-syndromic orofacial cleft 7;Ectodermal dysplasia, Margarita Island type 1 PE1 NX_Q15233 54232 471 9.01 X Nucleoplasm;Nucleus speckle;Nucleolus;Nucleus Mental retardation, X-linked, syndromic, 34 0 PE1 NX_Q15238 37713 335 9 19 Secreted NA 0 PE1 NX_Q15256 73834 657 8.62 12 Cytosol;Perinuclear region;Cell junction;Cell membrane NA 1 PE1 NX_Q15257 40668 358 5.63 9 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q15262 162102 1439 5.59 6 Cytoplasmic vesicle;Adherens junction;Cell junction;Cell membrane NA 1 PE1 NX_Q15269 102452 919 5.76 21 Cytosol;Nucleolus NA 0 PE1 NX_Q15270 40659 411 5.93 4 Nucleus NA 0 PE2 NX_Q15274 30846 297 5.81 16 NA NA 0 PE1 NX_Q15276 99290 862 4.95 17 Cytoplasmic vesicle;Cytoplasm;Recycling endosome;Early endosome NA 0 PE1 NX_Q15283 96614 850 6.84 3 Cytoplasmic vesicle;Cytoplasm;Perinuclear region NA 0 PE1 NX_Q15286 23025 201 8.53 12 Clathrin-coated pit;Endosome;Clathrin-coated vesicle;Cell membrane;Melanosome NA 0 PE1 NX_Q15287 34208 305 11.85 16 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q15291 59153 538 4.96 1 Nucleolus;Nucleus NA 0 PE1 NX_Q15293 38890 331 4.86 11 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 NX_Q15303 146808 1308 5.98 2 Mitochondrion;Nucleus;Cell membrane Amyotrophic lateral sclerosis 19 1 PE1 NX_Q15306 51772 451 6.39 6 Nucleoplasm;Nucleus Multiple myeloma 0 PE1 NX_Q15311 76063 655 5.68 18 Cytosol;Cytoplasmic vesicle;Nucleus membrane;Membrane NA 0 PE1 NX_Q15319 37052 338 9.16 5 Nucleoplasm;Cytoplasm;Nucleus Deafness, autosomal dominant, 15 0 PE1 NX_Q15323 47237 416 4.84 17 NA NA 0 PE1 NX_Q15326 70963 602 8.83 10 Nucleoplasm;Nucleus;Chromosome Mental retardation, autosomal dominant 30 0 PE1 NX_Q15327 36252 319 7.12 10 Nucleolus;Nucleus Total anomalous pulmonary venous return 0 PE1 NX_Q15329 37610 346 4.94 8 Nucleolus;Nucleus NA 0 PE1 NX_Q15334 115418 1064 5.87 17 Axon;Golgi apparatus membrane;Cytoskeleton;Early endosome membrane;trans-Golgi network membrane NA 0 PE1 NX_Q15345 88650 812 8.75 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q15349 83239 733 8.82 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q15361 103051 905 9.41 9 Nucleolus;Nucleus NA 0 PE1 NX_Q15363 22761 201 5.08 12 Endoplasmic reticulum membrane;Golgi stack membrane;COPI-coated vesicle membrane;Cytoplasmic vesicle;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cytoplasmic vesicle membrane NA 1 PE1 NX_Q15365 37498 356 6.66 2 Cytosol;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 NX_Q15366 38580 365 6.33 12 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q15369 12473 112 4.74 8 Nucleus;Cell junction NA 0 PE1 NX_Q15370 13133 118 4.73 16 Nucleus NA 0 PE1 NX_Q15375 112097 998 5.58 6 Cell membrane NA 1 PE1 NX_Q15382 20497 184 5.65 7 Endoplasmic reticulum membrane;Cytosol;Golgi apparatus membrane;Endomembrane system NA 0 PE1 NX_Q15386 123923 1083 6.27 7 Mitochondrion;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q15388 16298 145 8.81 1 Mitochondrion;Mitochondrion outer membrane NA 1 PE1 NX_Q15389 57513 498 6.3 8 Secreted NA 0 PE1 NX_Q15390 37000 333 9.1 8 Cytosol;Mitochondrion NA 0 PE1 NX_Q15391 38971 338 9.54 3 Cell membrane NA 7 PE2 NX_Q15392 60101 516 8.42 1 Endoplasmic reticulum membrane;Golgi apparatus membrane Desmosterolosis 1 PE1 NX_Q15393 135577 1217 5.13 16 Nucleolus;Nucleus NA 0 PE1 NX_Q15397 73584 648 9.65 9 Nucleoplasm;Nucleolus;Chromosome NA 0 PE1 NX_Q15398 95115 846 9.11 14 Cytosol;Cytoplasm;Spindle;Nucleus;Microtubule organizing center NA 0 PE1 NX_Q15399 90291 786 6.62 4 Phagosome membrane;Golgi apparatus;Membrane raft;Cell membrane NA 1 PE1 NX_Q15404 31540 277 8.57 10 Cytoplasmic vesicle NA 0 PE1 NX_Q15406 54383 480 5.87 9 Nucleus NA 0 PE1 NX_Q15413 552042 4870 5.47 15 Cytoplasmic vesicle;Microsome membrane;Sarcoplasmic reticulum;Sarcoplasmic reticulum membrane;Membrane NA 7 PE1 NX_Q15415 55728 496 9.89 Y Nucleus NA 0 PE1 NX_Q15417 36414 329 5.69 1 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q15418 82723 735 7.68 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q15424 102642 915 5.32 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q15427 44386 424 8.55 1 Nucleus speckle;Nucleus Acrofacial dysostosis 1, Nager type 0 PE1 NX_Q15428 49256 464 9.65 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q15431 114192 976 5.78 1 Centromere;Nucleus;Chromosome NA 0 PE1 NX_Q15434 43959 407 9.15 12 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q15435 41564 360 4.84 2 Nucleolus;Nucleus NA 0 PE1 NX_Q15436 86161 765 6.64 14 Cytoplasmic vesicle;Nucleoplasm;COPII-coated vesicle membrane;Endoplasmic reticulum membrane;Cytosol Craniolenticulosutural dysplasia 0 PE1 NX_Q15437 86479 767 6.43 20 Cytosol;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Cytoplasmic vesicle Cowden syndrome 7;Anemia, congenital dyserythropoietic, 2 0 PE1 NX_Q15438 46413 398 5.41 17 Nucleolus;Cytosol;Cell membrane;Nucleus;Adherens junction;Tight junction NA 0 PE1 NX_Q15459 88886 793 5.15 22 Nucleus speckle;Nucleus NA 0 PE1 NX_Q15464 55042 509 9.1 9 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA 0 PE1 NX_Q15465 49607 462 8.1 7 Cell membrane Hypoplasia or aplasia of tibia with polydactyly;Preaxial polydactyly 2;Microphthalmia, isolated, with coloboma, 5;Holoprosencephaly 3;Laurin-Sandrow syndrome;Triphalangeal thumb-polysyndactyly syndrome;Solitary median maxillary central incisor 0 PE1 NX_Q15466 28058 257 8.28 1 Cytoplasm;Nucleus Obesity 0 PE1 NX_Q15468 142955 1287 6.01 1 Cytosol;Centriole;Cell membrane Microcephaly 7, primary, autosomal recessive 0 PE1 NX_Q15475 32210 284 9.24 14 Cytoplasm;Nucleolus;Nucleus Deafness, autosomal dominant, 23;Branchiootic syndrome 3 0 PE1 NX_Q15477 137755 1246 5.72 6 Nucleoplasm;Cytoplasm;Nucleus Trichohepatoenteric syndrome 2 0 PE1 NX_Q15485 34001 313 6.31 9 Secreted NA 0 PE1 NX_Q15486 15381 140 5.71 5 NA NA 0 PE5 NX_Q15493 33253 299 5.89 X Cytoplasm;Nucleus NA 0 PE1 NX_Q15506 17406 151 4.76 11 Cytoplasmic vesicle;Membrane NA 0 PE1 NX_Q15513 7515 63 8.46 1 NA NA 0 PE4 NX_Q15517 51522 529 8.69 6 Secreted Peeling skin syndrome 1;Hypotrichosis 2 0 PE1 NX_Q15526 33331 300 9.64 9 Mitochondrion inner membrane Charcot-Marie-Tooth disease 4K;Leigh syndrome 2 PE1 NX_Q15527 29648 256 9.33 9 Nucleolus;Nucleus NA 0 PE1 NX_Q15528 22221 200 4.56 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q15532 45929 418 5.95 18 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q15542 86830 800 5.4 10 Nucleoplasm;Nucleus NA 0 PE1 NX_Q15543 14287 124 4.72 1 Nucleolus;Nucleus Mental retardation, autosomal recessive 60 0 PE1 NX_Q15544 23307 211 4.78 6 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q15545 40259 349 5.07 5 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q15546 27667 238 9.09 17 Cytoplasmic vesicle;Lysosome membrane;Late endosome membrane NA 7 PE2 NX_Q15554 59594 542 9.38 16 Nucleus;Telomere NA 0 PE1 NX_Q15555 37031 327 5.36 18 Nucleoplasm;Cytoskeleton Skin creases, congenital symmetric circumferential, 2 0 PE1 NX_Q15560 33601 299 9.32 20 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q15561 48329 434 6.88 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q15562 49243 447 6.06 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q15569 67684 626 8.44 9 NA NA 0 PE1 NX_Q15572 95213 869 8.91 16 Nucleolus;Nucleus NA 0 PE1 NX_Q15573 52676 450 9.15 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q15582 74681 683 7.62 5 Secreted;Extracellular matrix Corneal dystrophy, lattice type 1;Corneal dystrophy, Avellino type;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, lattice type 3A;Corneal dystrophy, Thiel-Behnke type;Corneal dystrophy, epithelial basement membrane;Corneal dystrophy, Groenouw type 1 0 PE1 NX_Q15583 43013 401 9.17 18 Nucleoplasm;Nucleus Holoprosencephaly 4 0 PE1 NX_Q15596 159157 1464 6.19 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q15599 37414 337 7.8 16 Apical cell membrane;Nucleus;Cell membrane;Endomembrane system NA 0 PE1 NX_Q155Q3 77478 683 5.85 11 Cytosol;Cytoplasm;Focal adhesion;Stress fiber NA 0 PE1 NX_Q15612 35598 314 9.12 9 Cell membrane NA 7 PE2 NX_Q15615 35240 310 8.74 17 Cell membrane NA 7 PE2 NX_Q15617 34904 311 8.37 11 Cell membrane NA 7 PE2 NX_Q15619 35042 314 8.18 1 Cell membrane NA 7 PE2 NX_Q15620 34482 311 8.28 11 Cell membrane NA 7 PE2 NX_Q15622 35579 319 8.33 19 Cell membrane NA 7 PE2 NX_Q15628 34247 312 5.94 16 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q15629 43072 374 9.65 8 Endoplasmic reticulum membrane NA 8 PE1 NX_Q15631 26183 228 6.01 2 Cytoplasm;Nucleus NA 0 PE1 NX_Q15633 39039 366 6.11 12 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 NX_Q15637 68330 639 9.07 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q15642 68352 601 5.55 19 Phagocytic cup;Golgi apparatus;Lysosome;Nucleoplasm;Cell cortex;Cell membrane;Cytoplasmic vesicle;Perinuclear region;Cytoskeleton NA 0 PE1 NX_Q15643 227586 1979 5.18 14 cis-Golgi network membrane;Cytoskeleton;Nucleus;Golgi apparatus Achondrogenesis 1A 0 PE1 NX_Q15645 48551 432 5.73 5 Nucleus Mosaic variegated aneuploidy syndrome 3 0 PE1 NX_Q15646 59226 514 7.96 12 Cytosol;Cytoplasm;Nucleolus;Nucleoplasm NA 0 PE1 NX_Q15648 168478 1581 8.88 17 Nucleoplasm;Nucleus NA 0 PE1 NX_Q15649 17607 155 5.51 17 Mitochondrion;Cytoplasm;Nucleus PEHO syndrome 0 PE1 NX_Q15650 66146 581 8.05 15 Nucleoplasm;Cytosol;Nucleus;Centrosome Spinal muscular atrophy with congenital bone fractures 1;Muscular dystrophy, congenital, Davignon-Chauveau type 0 PE1 NX_Q15651 10666 99 9.66 6 Cytosol;Nucleus NA 0 PE1 NX_Q15652 284525 2540 7.95 10 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q15653 37771 356 4.7 19 Cytosol;Cytoplasm;Nucleus;Centrosome;Nucleoplasm NA 0 PE1 NX_Q15654 50288 476 7.19 7 Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Nucleus;Cytoskeleton NA 0 PE1 NX_Q15661 30515 275 6.62 16 Secreted NA 0 PE1 NX_Q15669 21331 191 9.17 4 Cytoplasm;Cell membrane NA 0 PE1 NX_Q15672 20954 202 9.48 7 Nucleus Saethre-Chotzen syndrome;Sweeney-Cox syndrome;Robinow-Sorauf syndrome;Craniosynostosis 1 0 PE1 NX_Q15678 135261 1187 8.53 1 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus Choanal atresia and lymphedema 0 PE1 NX_Q15691 29999 268 5.02 20 Cytosol;Cytoskeleton;Centrosome;Golgi apparatus;Microtubule organizing center NA 0 PE1 NX_Q15695 57643 479 9.44 5 Nucleus NA 0 PE5 NX_Q15696 58045 482 9.75 X Nucleus NA 0 PE1 NX_Q15697 46455 407 9.66 16 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q15699 36961 326 8.8 12 Nucleoplasm;Nucleus;Golgi apparatus Frontonasal dysplasia 3 0 PE1 NX_Q156A1 10272 80 5.28 13 Nucleus Spinocerebellar ataxia 8 0 PE1 NX_Q15700 97552 870 6.03 11 Axon;Synapse;Cell membrane;Cytoplasmic vesicle;Membrane;Postsynaptic density NA 0 PE1 NX_Q15714 109677 1073 5.38 13 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q15717 36092 326 9.23 19 Cytosol;Cytoplasm;Nucleolus;Nucleus;Stress granule NA 0 PE1 NX_Q15722 37557 352 11.11 14 Cell membrane NA 7 PE1 NX_Q15723 63967 593 6.15 4 Nucleoplasm;Nucleus NA 0 PE1 NX_Q15726 14705 138 10.17 1 Cytoplasmic vesicle;Secreted Hypogonadotropic hypogonadism 13 with or without anosmia 0 PE1 NX_Q15735 107197 1006 9.22 22 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 NX_Q15738 41900 373 8.16 X Endoplasmic reticulum membrane;Lipid droplet;Endoplasmic reticulum CK syndrome;Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 1 PE1 NX_Q15742 56594 525 6.5 12 Cytosol;Nucleus NA 0 PE1 NX_Q15743 41077 365 7.87 14 Cell membrane Amelogenesis imperfecta, hypomaturation type, 2A6 7 PE1 NX_Q15744 30603 281 9.13 14 Nucleoplasm;Nucleus Specific granule deficiency 1 0 PE1 NX_Q15746 210715 1914 5.85 3 Stress fiber;Cleavage furrow;Cytoplasm;Cell membrane;Lamellipodium;Cytoskeleton Aortic aneurysm, familial thoracic 7 0 PE1 NX_Q15750 54644 504 5.31 22 Cytosol;Nucleus speckle NA 0 PE1 NX_Q15751 532228 4861 5.69 15 Cytosol;Golgi apparatus;Membrane Macrocephaly, dysmorphic facies, and psychomotor retardation 0 PE1 NX_Q15758 56598 541 5.34 19 Melanosome;Cell membrane NA 8 PE1 NX_Q15759 41357 364 5.56 22 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 NX_Q15760 47687 415 9.6 12 Cell membrane NA 7 PE1 NX_Q15761 50727 445 9 4 Cell membrane NA 7 PE2 NX_Q15762 38614 336 8.11 18 Midbody;Cell membrane NA 1 PE1 NX_Q15768 35835 340 8.85 17 Nucleoplasm;Membrane NA 1 PE1 NX_Q15771 23058 203 4.91 11 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus;trans-Golgi network;Membrane NA 0 PE1 NX_Q15772 354289 3267 8.82 2 Cytoplasmic vesicle;Nucleus Myopathy, centronuclear, 5 0 PE1 NX_Q15773 28147 248 6.4 12 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 NX_Q15776 65816 578 7.04 6 Cytosol;Nucleus NA 0 PE1 NX_Q15777 33360 294 5.85 11 Cytoplasmic vesicle;Mitochondrion;Nucleolus NA 0 PE1 NX_Q15782 43501 390 7.11 1 Secreted NA 0 PE1 NX_Q15784 41361 382 6.29 17 Nucleus NA 0 PE1 NX_Q15785 34559 309 9.12 20 Cytosol;Cytoplasm;Mitochondrion outer membrane NA 0 PE1 NX_Q15788 156757 1441 5.84 2 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q15796 52306 467 6.13 18 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q15797 52260 465 6.9 4 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q15800 35216 293 6.75 4 Endoplasmic reticulum membrane Microcephaly, congenital cataract, and psoriasiform dermatitis 3 PE1 NX_Q15811 195422 1721 7.76 21 Synaptosome;Cytoplasm;Clathrin-coated pit;Nucleus envelope;Cell membrane;Endomembrane system;Lamellipodium NA 0 PE1 NX_Q15813 59346 527 6.32 1 Cytoplasm;Cytoskeleton Kenny-Caffey syndrome 1;Hypoparathyroidism-retardation-dysmorphism syndrome;Encephalopathy, progressive, with amyotrophy and optic atrophy 0 PE1 NX_Q15814 39248 346 5.55 6 Cytosol;Cytoplasm NA 0 PE1 NX_Q15818 47122 432 6.16 17 Secretory vesicle NA 0 PE1 NX_Q15819 16363 145 7.79 8 Cytoplasm;Nucleus NA 0 PE1 NX_Q15822 59765 529 5.69 8 Postsynaptic cell membrane;Cell membrane Epilepsy, nocturnal frontal lobe, 4;Seizures, benign familial infantile, 6 4 PE1 NX_Q15825 56898 494 6.16 8 Postsynaptic cell membrane;Cell membrane NA 4 PE1 NX_Q15828 16511 149 8.32 11 Cytosol;Cell membrane;Secreted NA 0 PE1 NX_Q15831 48636 433 7.12 19 Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Membrane;Mitochondrion Peutz-Jeghers syndrome;Testicular germ cell tumor 0 PE1 NX_Q15833 66453 593 6.11 19 Cytosol Familial hemophagocytic lymphohistiocytosis 5 0 PE1 NX_Q15834 22091 202 5.06 11 Nucleus;Centrosome NA 0 PE1 NX_Q15835 63526 563 5.63 13 Membrane Night blindness, congenital stationary, Oguchi type 2 0 PE1 NX_Q15836 11309 100 8.89 1 Synaptosome;Membrane NA 1 PE1 NX_Q15842 47968 424 9.38 12 Membrane Sudden infant death syndrome;Hypertrichotic osteochondrodysplasia 2 PE1 NX_Q15843 9072 81 7.99 14 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q15846 54215 466 5.09 18 Cell membrane;Endoplasmic reticulum;Secreted NA 0 PE1 NX_Q15847 7855 76 5.17 10 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q15848 26414 244 5.42 3 Secreted Adiponectin deficiency;Diabetes mellitus, non-insulin-dependent 0 PE1 NX_Q15849 101209 920 6.51 18 Apical cell membrane NA 17 PE1 NX_Q15853 36955 346 4.97 19 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q15858 226372 1988 6.55 2 Focal adhesion;Cell projection;Cytoskeleton;Cell membrane Primary erythermalgia;Generalized epilepsy with febrile seizures plus 7;Indifference to pain, congenital, autosomal recessive;Paroxysmal extreme pain disorder;Febrile seizures, familial, 3B 24 PE1 NX_Q15878 261731 2313 8.52 1 Cytosol;Cytoskeleton;Cell membrane;Membrane NA 24 PE1 NX_Q15884 49703 450 6.57 9 Membrane NA 1 PE1 NX_Q15904 52026 470 5.73 X Endoplasmic reticulum membrane;Cytosol;Cell membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum;Cytoskeleton Immunodeficiency 47 1 PE1 NX_Q15906 40594 364 6.09 1 Nucleus speckle;Nucleus NA 0 PE1 NX_Q15907 24489 218 5.64 19 Cytoplasmic vesicle;Phagosome membrane;Synaptic vesicle membrane;Recycling endosome membrane;Microtubule organizing center Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 0 PE1 NX_Q15910 85363 746 6.65 7 Nucleoplasm;Nucleus Weaver syndrome 0 PE1 NX_Q15911 404419 3703 5.82 16 Cytoplasm;Nucleus NA 0 PE1 NX_Q15915 48309 447 8.7 3 Nucleoplasm;Cytoplasm;Nucleus Craniosynostosis 6 0 PE1 NX_Q15916 48236 424 6.29 9 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 NX_Q15928 55249 474 9.43 4 Nucleus Polydactyly, postaxial A6 0 PE1 NX_Q15929 18651 161 8.85 19 Nucleus NA 0 PE5 NX_Q15935 61964 545 9.04 19 Nucleolus;Nucleus NA 0 PE1 NX_Q15937 55350 498 8.54 9 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q15940 22988 193 9.85 19 NA NA 0 PE5 NX_Q15942 61277 572 6.22 7 Cytoplasm;Focal adhesion;Nucleus;Cytoskeleton NA 0 PE1 NX_Q15973 40217 351 9.11 1 Nucleus;Nucleus membrane NA 0 PE1 NX_Q16048 9715 86 6.72 5 NA NA 0 PE5 NX_Q16082 20233 182 5.07 11 Cytoplasm;Nucleus NA 0 PE1 NX_Q16099 107246 956 6.3 11 Postsynaptic cell membrane;Cell membrane NA 3 PE2 NX_Q16134 68495 617 7.31 4 Mitochondrion inner membrane Glutaric aciduria 2C 0 PE1 NX_Q16143 14288 134 4.41 5 Cytoplasm NA 0 PE1 NX_Q16181 50680 437 8.76 7 Kinetochore;Nucleolus;Flagellum;Cleavage furrow;Cytoplasm;Midbody;Cilium axoneme;Spindle;Cytoskeleton NA 0 PE1 NX_Q16186 42153 407 4.96 20 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 NX_Q16204 53291 474 6.87 10 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q16206 70082 610 5.67 X Extracellular space;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 NX_Q16222 58769 522 5.92 1 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA 0 PE1 NX_Q16236 67827 605 4.67 2 Cytosol;Cytoplasm;Nucleus;Cell membrane Immunodeficiency, developmental delay, and hypohomocysteinemia 0 PE1 NX_Q16254 43960 413 4.66 16 Nucleoplasm;Nucleus NA 0 PE1 NX_Q16270 29130 282 8.25 4 Golgi apparatus;Secreted Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 0 PE1 NX_Q16280 76048 664 5.88 X Membrane NA 6 PE2 NX_Q16281 78838 694 7.56 2 Membrane Achromatopsia 2 6 PE1 NX_Q16288 94428 839 6.12 15 Nucleolus;Nucleus membrane;Membrane NA 1 PE1 NX_Q16322 57785 511 4.85 1 Cytosol;Nucleoplasm;Membrane NA 6 PE1 NX_Q16342 38592 344 5.25 6 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q16348 81783 729 8.4 3 Cell membrane NA 12 PE1 NX_Q16352 55391 499 5.34 10 Nucleoplasm;Cytoskeleton;Nucleus membrane NA 0 PE1 NX_Q16363 202524 1823 5.89 6 Cytosol;Basement membrane;Cell membrane Cardiomyopathy, dilated 1JJ 0 PE1 NX_Q16378 15097 134 6.5 12 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q16384 21931 188 9.46 X NA NA 0 PE1 NX_Q16385 21620 188 5.61 X Nucleus NA 0 PE1 NX_Q16394 86255 746 9.16 8 Endoplasmic reticulum membrane;Golgi apparatus membrane Chondrosarcoma;Hereditary multiple exostoses 1;Tricho-rhino-phalangeal syndrome 2 1 PE1 NX_Q16401 56196 504 5.35 9 Cytosol;Nucleus NA 0 PE1 NX_Q16445 51024 453 8.39 5 Postsynaptic cell membrane;Cell membrane NA 4 PE2 NX_Q16473 33740 311 5.29 6 NA NA 0 PE5 NX_Q16478 109265 980 8.54 19 Postsynaptic cell membrane;Nucleus;Cell membrane NA 3 PE1 NX_Q16512 103932 942 5.99 19 Endosome;Cleavage furrow;Cytosol;Cytoplasm;Cell membrane;Nucleus;Midbody NA 0 PE1 NX_Q16513 112035 984 5.95 1 Cleavage furrow;Cytosol;Cytoplasm;Cell membrane;Midbody;Nucleoplasm;Nucleus;Membrane;Lamellipodium;Cytoskeleton;Cell junction NA 0 PE1 NX_Q16514 17924 161 7.78 1 Nucleus NA 0 PE1 NX_Q16515 57709 512 5.07 17 Cell membrane NA 2 PE1 NX_Q16517 9237 81 10.17 20 NA NA 0 PE2 NX_Q16518 60948 533 6.05 1 Microsome membrane;Cell membrane;Cytoplasm Leber congenital amaurosis 2;Retinitis pigmentosa 20 0 PE1 NX_Q16520 14120 125 8.82 14 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q16526 66395 586 8.27 12 Cytoplasm;Cytoskeleton;Nucleus;Nucleus membrane Delayed sleep phase syndrome 0 PE1 NX_Q16527 20954 193 8.95 12 Nucleus NA 0 PE1 NX_Q16531 126968 1140 5.14 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q16533 42994 368 9.53 14 Nucleolus;Nucleus NA 0 PE1 NX_Q16534 33199 295 7.76 17 Nucleus NA 0 PE2 NX_Q16537 54699 467 6.51 14 Cytosol;Cytoplasm NA 0 PE1 NX_Q16538 63930 588 8.83 12 Cell membrane;Microtubule organizing center NA 7 PE1 NX_Q16539 41293 360 5.48 6 Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 NX_Q16540 17781 153 9.69 11 Mitochondrion;Nucleolus NA 0 PE1 NX_Q16543 44468 378 5.17 19 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q16548 20132 175 5.32 15 Cytoplasm NA 0 PE1 NX_Q16549 86247 785 5.51 11 Nucleus;Nucleolus;trans-Golgi network membrane;Nucleus membrane NA 1 PE1 NX_Q16552 17504 155 8.82 6 Secreted NA 0 PE1 NX_Q16553 13507 131 8.06 8 Cell membrane NA 0 PE1 NX_Q16555 62294 572 5.95 8 Cytosol;Cytoskeleton;Cell membrane;Membrane NA 0 PE1 NX_Q16557 47945 428 8.74 19 Secreted NA 0 PE1 NX_Q16558 21797 191 9.12 5 Membrane NA 2 PE1 NX_Q16559 12291 108 10.48 9 Cytosol NA 0 PE1 NX_Q16560 29450 246 9.86 12 Nucleolus;Nucleus NA 0 PE1 NX_Q16563 28565 259 8.69 7 Cytoplasmic vesicle membrane;Melanosome NA 4 PE1 NX_Q16566 51926 473 5.6 5 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q16568 12829 116 8.55 5 Secreted NA 0 PE1 NX_Q16570 35553 336 6.1 1 Recycling endosome;Early endosome;Membrane NA 7 PE1 NX_Q16572 56903 532 5.81 10 Membrane Myasthenic syndrome, congenital, 21, presynaptic 12 PE1 NX_Q16576 47820 425 4.89 X Nucleus NA 0 PE1 NX_Q16581 53864 482 6.2 12 Cell membrane NA 7 PE1 NX_Q16584 92688 847 8.4 11 Cytosol;Centrosome;Microtubule organizing center NA 0 PE1 NX_Q16585 34777 318 8.86 4 Cytosol;Cytoskeleton;Sarcolemma Limb-girdle muscular dystrophy 2E 1 PE1 NX_Q16586 42875 387 5.5 17 Cytoskeleton;Sarcolemma Limb-girdle muscular dystrophy 2D 1 PE1 NX_Q16587 72207 644 8.77 22 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q16589 38866 344 5.33 4 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q16594 28974 264 8.77 5 Nucleus NA 0 PE1 NX_Q16595 23135 210 8.8 9 Cytosol;Mitochondrion Friedreich ataxia 0 PE1 NX_Q16600 51591 458 7.71 10 Nucleus NA 0 PE1 NX_Q16602 52929 461 6.27 2 Cell membrane NA 7 PE1 NX_Q16609 14886 132 5.21 6 Secreted NA 0 PE5 NX_Q16610 60674 540 6.25 1 Nucleoplasm;Cytosol;Extracellular matrix Lipoid proteinosis 0 PE1 NX_Q16611 23409 211 5.66 6 Mitochondrion outer membrane NA 1 PE1 NX_Q16612 7909 68 9.16 5 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q16613 23344 207 7.2 17 Cytosol;Cytoplasm NA 0 PE1 NX_Q16617 17665 165 5.88 19 Cytoplasmic vesicle;Cytoplasmic granule membrane;Cell membrane NA 4 PE1 NX_Q16619 21227 201 9.18 16 Secreted NA 0 PE1 NX_Q16620 91999 822 6.01 9 Axon;Cytosol;Early endosome membrane;Cell membrane;Endosome membrane;Dendrite;Perinuclear region Epileptic encephalopathy, early infantile, 58;Obesity, hyperphagia, and developmental delay 1 PE1 NX_Q16621 41473 373 4.89 12 Nucleoplasm;Cytoplasm;Cytoskeleton;PML body NA 0 PE1 NX_Q16623 33023 288 5.14 7 Synaptosome;Synaptic vesicle membrane;Cell membrane;Secreted NA 1 PE1 NX_Q16625 59144 522 5.77 5 Tight junction;Cell membrane;Cell junction Pseudo-TORCH syndrome 1 4 PE1 NX_Q16626 19905 185 4.13 6 Cytosol;Nucleus NA 0 PE1 NX_Q16627 10678 93 8.95 17 Secreted NA 0 PE1 NX_Q16629 27367 238 11.83 2 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q16630 59210 551 6.66 12 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q16633 27436 256 4.87 11 Nucleus NA 0 PE1 NX_Q16635 33459 292 9.1 X Cytoplasm;Cell membrane;Endoplasmic reticulum;Membrane Barth syndrome 1 PE1 NX_Q16637 31849 294 6.13 5 Cajal body;Perikaryon;Cytoplasm;Cytoplasmic granule;Gem;Cell projection;Z line Spinal muscular atrophy 4;Spinal muscular atrophy 1;Spinal muscular atrophy 3;Spinal muscular atrophy 2 0 PE1 NX_Q16643 71429 649 4.41 5 Cytoplasm;Cell cortex;Cell membrane;Cell junction;Cytoskeleton;Cell projection;Growth cone NA 0 PE1 NX_Q16644 42987 382 6.87 3 Nucleoplasm;Cytoplasm;Nucleus Macular dystrophy, patterned, 3 0 PE1 NX_Q16647 57104 500 6.8 20 Endoplasmic reticulum membrane;Endoplasmic reticulum Essential hypertension 1 PE1 NX_Q16649 51472 462 6.7 9 Nucleus NA 0 PE1 NX_Q16650 74053 682 6.89 2 Nucleus NA 0 PE1 NX_Q16651 36431 343 5.52 16 Cytosol;Extracellular space;Cell membrane NA 1 PE1 NX_Q16653 28193 247 8.87 6 Cell membrane Narcolepsy 7 2 PE1 NX_Q16654 46469 411 6.19 7 Mitochondrion matrix NA 0 PE1 NX_Q16655 13157 118 8.29 9 Endoplasmic reticulum membrane;Melanosome;trans-Golgi network membrane;Golgi apparatus NA 1 PE1 NX_Q16656 53541 503 4.94 7 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q16658 54530 493 6.84 7 Stress fiber;Cytosol;Cell membrane;Cell junction;Microvillus;Filopodium;Cytoskeleton;Invadopodium NA 0 PE1 NX_Q16659 82681 721 4.91 15 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q16661 12069 112 6.02 1 Secreted NA 0 PE1 NX_Q16663 12248 113 8.49 17 Cytoplasmic vesicle;Golgi apparatus;Secreted NA 0 PE1 NX_Q16665 92670 826 5.17 14 Nucleoplasm;Nucleus speckle;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 NX_Q16666 88256 785 9.31 1 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q16667 23805 212 5.97 14 Cytosol;Cytoplasm;Perinuclear region Hepatocellular carcinoma 0 PE1 NX_Q16670 55254 478 8.36 6 Nucleolus;Nucleus NA 0 PE1 NX_Q16671 62750 573 5.53 12 Membrane Persistent Muellerian duct syndrome 2 1 PE1 NX_Q16674 14509 131 9.04 19 Secreted NA 0 PE1 NX_Q16676 46140 465 5.03 5 Nucleus NA 0 PE1 NX_Q16678 60846 543 9.18 2 Endoplasmic reticulum membrane;Microsome membrane;Mitochondrion Anterior segment dysgenesis 6;Glaucoma 1, open angle, A;Glaucoma 3, primary congenital, A 0 PE1 NX_Q16690 42047 384 8.69 10 Nucleus NA 0 PE1 NX_Q16695 15508 136 11.13 1 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q16696 56688 494 9.31 19 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_Q16698 36068 335 9.35 8 Cytosol;Mitochondrion 2,4-dienoyl-CoA reductase deficiency 0 PE1 NX_Q16706 131141 1144 7.24 5 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q16718 13459 116 5.75 7 Mitochondrion inner membrane NA 0 PE1 NX_Q16719 52352 465 6.56 2 Cytosol;Nucleoplasm Hydroxykynureninuria;Vertebral, cardiac, renal, and limb defects syndrome 2 0 PE1 NX_Q16720 134197 1220 5.45 X Golgi apparatus;Cell membrane Spinocerebellar ataxia, X-linked 1 10 PE1 NX_Q16739 44854 394 7.94 9 Cytoplasm;Golgi apparatus membrane;Cell membrane NA 5 PE1 NX_Q16740 30180 277 8.26 19 Mitochondrion matrix;Mitochondrion Perrault syndrome 3 0 PE1 NX_Q16760 134525 1214 7.62 2 Cytosol;Cytoplasm;Membrane NA 0 PE1 NX_Q16762 33429 297 6.77 22 Mitochondrion matrix;Mitochondrion NA 0 PE1 NX_Q16763 23845 222 8.45 19 Nucleoplasm;Cell membrane NA 0 PE1 NX_Q16769 40877 361 6.12 2 Cytosol;Secreted NA 0 PE1 NX_Q16772 25302 222 9.21 6 Cytoplasm NA 0 PE1 NX_Q16773 47875 422 6.02 9 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q16774 21726 197 6.11 1 NA NA 0 PE1 NX_Q16775 33806 308 8.34 16 Mitochondrion matrix;Cytoplasm NA 0 PE1 NX_Q16777 13988 129 10.9 1 Nucleus;Chromosome NA 0 PE1 NX_Q16778 13920 126 10.31 1 Nucleus;Chromosome NA 0 PE1 NX_Q16787 366649 3333 7.03 18 Basement membrane;Endoplasmic reticulum Laryngoonychocutaneous syndrome;Epidermolysis bullosa, junctional, Herlitz type 0 PE1 NX_Q16790 49698 459 4.64 9 Cytosol;Microvillus membrane;Nucleolus;Nucleus;Cell membrane NA 1 PE1 NX_Q16795 42510 377 9.81 12 Mitochondrion matrix;Nucleoplasm;Mitochondrion Leigh syndrome 0 PE1 NX_Q16798 67068 604 8.16 11 Mitochondrion matrix NA 0 PE1 NX_Q16799 83618 776 4.62 14 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 2 PE1 NX_Q16816 45024 387 6.4 7 NA NA 0 PE1 NX_Q16819 84419 746 5.43 6 Membrane NA 1 PE1 NX_Q16820 79571 701 5.45 18 Cell membrane;Secreted NA 1 PE1 NX_Q16821 125767 1122 4.91 7 Membrane Diabetes mellitus, non-insulin-dependent 1 PE1 NX_Q16822 70699 640 7.57 14 Mitochondrion Mitochondrial phosphoenolpyruvate carboxykinase deficiency 0 PE1 NX_Q16825 133281 1174 8 14 Golgi apparatus;Cytosol;Cell membrane;Microtubule organizing center;Nucleoplasm;Cytoskeleton NA 0 PE1 NX_Q16827 138344 1216 5.68 12 Membrane Nephrotic syndrome 6 1 PE1 NX_Q16828 42320 381 4.75 12 Cytosol;Nucleoplasm;Cytoplasm Hypogonadotropic hypogonadism 19 with or without anosmia 0 PE1 NX_Q16829 44957 419 5.73 3 Cytoplasm NA 0 PE1 NX_Q16831 33934 310 8.17 7 Nucleoplasm NA 0 PE1 NX_Q16832 96736 855 5.2 1 Cytoskeleton;Cell membrane Spondyloepimetaphyseal dysplasia short limb-hand type 1 PE1 NX_Q16836 34294 314 8.88 4 Mitochondrion matrix;Mitochondrion 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency;Familial hyperinsulinemic hypoglycemia 4 0 PE1 NX_Q16842 40173 350 8.59 16 Cytoplasmic vesicle;Golgi stack membrane;Secreted NA 1 PE1 NX_Q16849 105848 979 6.67 2 Synapse;Perikaryon;Endosome;Cell membrane;Axon;Nucleus;Endoplasmic reticulum;Membrane;Secretory vesicle membrane NA 1 PE1 NX_Q16850 56806 503 8.72 7 Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum NA 1 PE1 NX_Q16851 56940 508 8.15 2 Mitochondrion;Cytoplasm;Centrosome;Nucleoplasm NA 0 PE1 NX_Q16853 84622 763 6.05 17 Cytosol;Golgi apparatus;Cell membrane NA 1 PE1 NX_Q16854 32056 277 8.76 2 Mitochondrion Portal hypertension, non-cirrhotic;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4;Mitochondrial DNA depletion syndrome 3 0 PE1 NX_Q16864 13370 119 5.29 7 NA NA 0 PE1 NX_Q16873 16567 150 10.2 5 Endoplasmic reticulum membrane;Nucleus outer membrane NA 4 PE1 NX_Q16875 59609 520 8.49 10 Nucleoplasm NA 0 PE1 NX_Q16877 54040 469 6.21 3 Nucleolus NA 0 PE1 NX_Q16878 22972 200 6.11 5 Nucleoplasm NA 0 PE1 NX_Q16880 61438 541 9.54 4 Mitochondrion;Membrane NA 1 PE1 NX_Q16881 70906 649 7.16 12 Cytoplasm;Nucleus NA 0 PE1 NX_Q16890 22449 204 5.45 6 Cytosol;Cell junction;Cell membrane NA 0 PE1 NX_Q16891 83678 758 6.08 2 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 NX_Q17R31 30333 274 6.67 1 Nucleoplasm;Focal adhesion;Nucleus;Golgi apparatus NA 0 PE1 NX_Q17R55 42387 369 6.46 19 Membrane NA 1 PE1 NX_Q17R60 89387 797 4.79 6 Secreted Macular dystrophy, vitelliform, 4 0 PE1 NX_Q17R89 89247 818 6.13 17 Recycling endosome;Synapse;Dendritic spine NA 0 PE1 NX_Q17R98 119165 1081 6.43 4 Nucleoplasm;Nucleus NA 0 PE1 NX_Q17RA5 8913 79 7.76 21 NA NA 0 PE5 NX_Q17RB0 13246 113 5.17 X NA NA 0 PE1 NX_Q17RB8 86725 773 6.93 8 Cytosol;Centrosome;Cell membrane NA 0 PE1 NX_Q17RC7 79896 722 5.92 14 NA NA 0 PE1 NX_Q17RD7 72274 645 5.39 14 Cytosol NA 0 PE1 NX_Q17RF5 15556 130 10.51 4 Secreted Amelogenesis imperfecta, hypomaturation type, 2A4 0 PE1 NX_Q17RG1 104938 926 5.84 16 NA NA 0 PE1 NX_Q17RH7 24139 258 11.48 3 NA NA 0 PE5 NX_Q17RM4 81643 750 6.58 2 NA NA 0 PE1 NX_Q17RN3 37329 349 6.89 19 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q17RP2 58656 521 6.34 5 Cytoplasmic vesicle;Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE2 NX_Q17RQ9 67780 610 9.13 19 Membrane NA 3 PE1 NX_Q17RR3 52254 467 8.56 10 Secreted NA 0 PE2 NX_Q17RS7 102884 908 8.04 2 Nucleoplasm;Nucleus NA 0 PE1 NX_Q17RW2 175496 1714 8.46 1 Extracellular matrix NA 0 PE1 NX_Q17RY0 80152 729 6.7 5 Cytoplasmic vesicle;Golgi apparatus;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Axon;Dendrite;Perinuclear region;Dendritic spine;Postsynaptic density;Growth cone NA 0 PE1 NX_Q17RY6 18673 165 7.43 8 Acrosome;Secreted;Nucleoplasm;Cytoplasm;Cell membrane;Membrane raft NA 0 PE1 NX_Q18PE1 53097 504 6.43 4 Nucleoplasm;Mitochondrion;Synapse;Cell membrane Myasthenic syndrome, congenital, 10 0 PE1 NX_Q19AV6 15386 140 6.7 17 Cytosol;Nucleus NA 0 PE1 NX_Q19T08 21295 205 7.73 5 Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Cytoplasm NA 1 PE1 NX_Q1A5X6 18226 159 9.52 3 NA NA 0 PE2 NX_Q1A5X7 18091 153 5.71 15 Nucleus NA 0 PE5 NX_Q1AE95 42940 376 9.25 3 Membrane NA 1 PE2 NX_Q1ED39 51589 458 9.86 16 Cytosol;Nucleolus NA 0 PE1 NX_Q1EHB4 67647 618 8.44 11 Apical cell membrane;Endoplasmic reticulum NA 13 PE1 NX_Q1HG43 37815 343 6.3 15 Membrane NA 5 PE1 NX_Q1HG44 34787 320 8.51 15 Endoplasmic reticulum membrane Thyroid dyshormonogenesis 5 5 PE1 NX_Q1KMD3 85105 747 4.85 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q1L5Z9 83654 754 5.65 2 Nucleus NA 0 PE1 NX_Q1L6U9 14993 139 6.96 9 Cytosol;Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q1MSJ5 145522 1256 6.37 8 Spindle;Microtubule organizing center;Centrosome;Spindle pole Joubert syndrome 21 0 PE1 NX_Q1MX18 63469 579 5.37 11 Cytoplasm;Cell cortex NA 0 PE1 NX_Q1RMZ1 46324 405 5.75 7 Cytosol NA 0 PE1 NX_Q1RN00 22217 199 9.19 3 NA NA 0 PE1 NX_Q1T7F1 8815 81 6.05 19 Cytoplasm NA 0 PE5 NX_Q1W209 24186 222 9.39 3 Nucleus NA 0 PE2 NX_Q1W4C9 11051 94 8.51 5 Nucleus;Cell membrane;Secreted NA 0 PE2 NX_Q1W6H9 33863 321 9.93 2 Cytoskeleton;Nucleus;Centrosome;Spindle pole NA 0 PE1 NX_Q1X8D7 83823 754 6.68 16 NA NA 0 PE1 NX_Q1XH10 98148 908 8.68 10 NA NA 0 PE1 NX_Q1ZYL8 26510 232 7.18 19 Cytoplasmic vesicle;Nucleoplasm;Secreted NA 0 PE1 NX_Q1ZZU3 26739 235 10.25 9 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q24JP5 110110 1023 5.43 11 Endoplasmic reticulum membrane;Mitochondrion;Golgi apparatus membrane NA 1 PE1 NX_Q24JQ0 32647 296 8.97 18 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 10 PE2 NX_Q27J81 135624 1249 5.26 14 Perinuclear region;Nucleus;Endoplasmic reticulum Charcot-Marie-Tooth disease, dominant, intermediate type, E;Focal segmental glomerulosclerosis 5 0 PE1 NX_Q29718 40421 362 5.66 6 Membrane NA 1 PE1 NX_Q29836 40342 362 5.77 6 Membrane NA 1 PE1 NX_Q29865 40933 366 6.18 6 Membrane NA 1 PE1 NX_Q29940 40584 362 5.89 6 Membrane NA 1 PE1 NX_Q29960 40753 366 6.09 6 Cell membrane;Secreted NA 1 PE1 NX_Q29963 40969 366 5.68 6 Membrane Psoriasis 1 1 PE1 NX_Q29974 30030 266 7.64 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 NX_Q29980 42646 383 6.5 6 Cell membrane Rheumatoid arthritis 1 PE1 NX_Q29983 42915 383 6.49 6 Cytoplasm;Cell membrane Psoriasis 1;Psoriatic arthritis 1 PE1 NX_Q29RF7 150830 1337 8.15 4 Nucleoplasm;Nucleus NA 0 PE1 NX_Q2HXU8 31616 276 5.5 12 Cell membrane NA 1 PE1 NX_Q2I0M4 34857 334 9.6 9 Cytoskeleton;Nucleolus;Cell membrane NA 1 PE1 NX_Q2I0M5 26171 234 9.38 20 Secreted Nail disorder, non-syndromic congenital, 4 0 PE1 NX_Q2KHM9 109407 967 7.6 17 Cytosol;Centriole;Centriolar satellite;Centrosome Orofaciodigital syndrome 15 0 PE1 NX_Q2KHN1 27412 245 9.07 16 Cytoplasm;Nucleus NA 0 PE1 NX_Q2KHR2 146896 1363 6.29 15 Nucleus;Nucleus membrane NA 0 PE1 NX_Q2KHR3 189972 1735 6.61 11 Nucleoplasm;Cytosol NA 0 PE1 NX_Q2KHT3 117715 1053 5.55 16 Endosome membrane;Cytoplasmic vesicle;Lysosome membrane;Nucleus Diabetes mellitus, insulin-dependent 0 PE1 NX_Q2KHT4 39248 349 8.25 12 Endoplasmic reticulum membrane NA 4 PE1 NX_Q2KJY2 223883 2108 8.76 1 Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q2L4Q9 58410 553 5.46 16 Secreted NA 0 PE2 NX_Q2LD37 555482 5005 6.12 4 Nucleoplasm;Centrosome;Membrane Alkuraya-Kucinskas syndrome 1 PE1 NX_Q2M1K9 144605 1284 6.43 16 Nucleus Joubert syndrome 19;Nephronophthisis 14 0 PE1 NX_Q2M1P5 150587 1343 6.37 15 Cilium;Cilium basal body Acrocallosal syndrome;Joubert syndrome 12;Hydrolethalus syndrome 2;Al-Gazali-Bakalinova syndrome;Bardet-Biedl syndrome 0 PE1 NX_Q2M1V0 27011 245 8.91 22 Nucleoplasm;Nucleus NA 0 PE2 NX_Q2M1Z3 156985 1444 5.55 3 Lamellipodium;Focal adhesion Adams-Oliver syndrome 1 0 PE1 NX_Q2M218 76094 657 9.07 X Cytosol;Nucleus NA 0 PE1 NX_Q2M238 17255 152 9.03 16 NA NA 0 PE5 NX_Q2M243 75354 656 5.53 1 NA NA 0 PE1 NX_Q2M296 42173 383 8.93 16 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q2M2D7 24072 210 9.69 17 NA NA 0 PE2 NX_Q2M2E3 29233 257 6.71 17 Membrane NA 3 PE1 NX_Q2M2E5 14817 130 9.54 5 Secreted NA 0 PE2 NX_Q2M2H8 277990 2515 5.02 7 Cytoplasmic vesicle;Cytosol;Membrane NA 1 PE1 NX_Q2M2I3 51780 478 9.42 19 NA NA 0 PE1 NX_Q2M2I5 55087 525 4.89 17 Cytosol;Cytoskeleton NA 0 PE1 NX_Q2M2I8 103885 961 6.16 2 Cytosol;Clathrin-coated pit;Cell membrane NA 0 PE1 NX_Q2M2W7 11219 97 10.7 17 Cytosol;Cell membrane NA 0 PE1 NX_Q2M2Z5 75111 673 5.44 20 Centrosome;Cilium basal body Retinitis pigmentosa 69 0 PE1 NX_Q2M329 62711 555 4.92 4 Centrosome NA 0 PE1 NX_Q2M385 78587 716 7.77 11 Membrane NA 1 PE1 NX_Q2M389 136403 1173 7.1 12 Nucleoplasm;Early endosome Mental retardation, autosomal recessive 43 0 PE1 NX_Q2M3A8 16456 158 6.69 11 NA NA 0 PE5 NX_Q2M3C6 58444 531 4.63 15 Cytosol;Cell membrane;Membrane NA 3 PE1 NX_Q2M3C7 186456 1700 5.04 2 Cytoplasm NA 0 PE1 NX_Q2M3D2 45859 409 7.65 19 NA NA 0 PE1 NX_Q2M3G0 138641 1257 7.29 7 Cell membrane NA 11 PE1 NX_Q2M3G4 90786 852 5.81 5 Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 NX_Q2M3M2 74073 681 6.71 1 Cytosol;Cytoskeleton;Membrane NA 14 PE1 NX_Q2M3R5 39836 365 8.46 10 Endoplasmic reticulum membrane;Cell membrane NA 10 PE1 NX_Q2M3T9 54249 481 8.68 7 Membrane NA 2 PE1 NX_Q2M3V2 57443 549 10.19 5 NA NA 0 PE1 NX_Q2M3W8 65842 571 9.12 19 Nucleus NA 0 PE1 NX_Q2M3X9 67199 581 9.32 X Nucleus NA 0 PE1 NX_Q2M5E4 17671 152 6.6 1 NA NA 0 PE2 NX_Q2MJR0 42670 410 8.67 19 Nucleoplasm;Cytosol;Cell membrane;Membrane NA 0 PE2 NX_Q2MKA7 28959 263 9.46 1 Nucleus;Secreted Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal 0 PE1 NX_Q2MV58 63570 587 5.32 12 Nucleoplasm;Cytoskeleton;Cilium basal body;Secreted Joubert syndrome 13 0 PE1 NX_Q2NKJ3 134609 1217 8.23 17 Nucleus;Telomere Cerebroretinal microangiopathy with calcifications and cysts 1 0 PE1 NX_Q2NKQ1 129718 1148 5.43 22 Cytoplasm;Cytoplasmic vesicle membrane;trans-Golgi network NA 0 PE1 NX_Q2NKX8 141103 1250 5.19 X Kinetochore;Cytosol;Nucleoplasm;Centromere;Centrosome;Chromosome NA 0 PE1 NX_Q2NKX9 18751 166 8.44 2 Mitochondrion;Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 NX_Q2NL67 71115 630 8.6 15 Cell membrane NA 0 PE2 NX_Q2NL68 51075 480 6.63 19 Golgi apparatus NA 0 PE1 NX_Q2NL82 91810 804 6.98 17 Nucleoplasm;Nucleolus NA 0 PE1 NX_Q2NL98 18348 169 5.44 19 Cytoplasm NA 0 PE1 NX_Q2PPJ7 210770 1873 5.74 20 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q2PZI1 77319 675 9.13 7 Cytoplasmic vesicle;Membrane NA 11 PE1 NX_Q2Q1W2 93385 868 7.57 3 Cytoskeleton;P-body;Focal adhesion;Cell membrane NA 0 PE1 NX_Q2QD12 25023 228 5.21 10 NA NA 0 PE2 NX_Q2QGD7 89988 858 8.48 3 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 NX_Q2QL34 22116 196 9.92 16 Cytoplasmic vesicle;Peroxisome membrane NA 4 PE1 NX_Q2T9J0 59309 566 5.82 10 Cytosol;Nucleoplasm;Centrosome;Peroxisome NA 0 PE1 NX_Q2T9K0 52201 475 8.12 3 Cytosol;Membrane NA 7 PE1 NX_Q2T9L4 31928 293 4.91 15 Cytosol;Postsynaptic density;Nucleoplasm NA 0 PE2 NX_Q2TAA2 27599 248 5.13 2 Nucleoplasm NA 0 PE1 NX_Q2TAA5 55651 492 8.78 13 Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1P 2 PE1 NX_Q2TAA8 76773 658 4.99 16 Cytosol;Perinuclear region;Nucleus NA 0 PE1 NX_Q2TAC2 103167 916 6.13 17 Cytosol;Cytoskeleton;Microtubule organizing center NA 0 PE1 NX_Q2TAC6 111332 998 8.87 17 Cytoskeleton;Cilium;Cell membrane;Centrosome NA 0 PE1 NX_Q2TAK8 78636 710 8.83 19 Cytosol;Nucleus NA 0 PE1 NX_Q2TAL5 50196 461 8.8 17 NA NA 0 PE1 NX_Q2TAL6 35282 325 5.29 7 Synapse;Basement membrane NA 0 PE1 NX_Q2TAL8 86436 776 5.59 3 Nucleoplasm Ververi-Brady syndrome 0 PE1 NX_Q2TAM9 23390 212 11.18 9 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q2TAP0 18335 167 5.77 10 Golgi apparatus membrane NA 0 PE1 NX_Q2TAY7 57544 513 6.74 9 Cytoplasmic vesicle;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 NX_Q2TAZ0 212860 1938 5.57 11 Cytosol;Cytoplasmic vesicle;Lipid droplet;Nucleus;Preautophagosomal structure membrane NA 0 PE1 NX_Q2TB10 75236 664 9.54 7 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q2TB18 77093 679 8.39 3 Endoplasmic reticulum NA 0 PE1 NX_Q2TB90 102545 917 6.77 10 Mitochondrion NA 0 PE1 NX_Q2TBA0 69257 621 5.15 3 I band;Cytoplasm;A band Nemaline myopathy 8 0 PE1 NX_Q2TBC4 37551 344 5.47 6 Spindle;Microtubule organizing center NA 0 PE2 NX_Q2TBE0 103787 894 8.78 11 Cytosol;Nucleus speckle NA 0 PE1 NX_Q2TBF2 63817 565 8.99 12 Nucleoplasm;Membrane NA 1 PE1 NX_Q2TV78 79694 715 8.16 1 Secreted NA 0 PE1 NX_Q2UY09 116657 1125 6.1 7 Cytosol;Nucleoplasm;Basement membrane NA 0 PE1 NX_Q2V2M9 158613 1422 5.7 18 Cytoskeleton;Z line NA 0 PE1 NX_Q2VIQ3 140035 1234 5.88 5 Cytoskeleton;Nucleus matrix NA 0 PE1 NX_Q2VIR3 51229 472 8.67 12 NA NA 0 PE1 NX_Q2VPA4 62714 569 6.95 1 Cytoplasm;Secreted;Membrane NA 0 PE1 NX_Q2VPB7 93949 878 5.61 11 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 NX_Q2VPJ9 34740 315 9.42 22 Cytosol;Nucleus NA 0 PE2 NX_Q2VPK5 56107 515 5.94 16 Cytoplasm NA 0 PE1 NX_Q2VWA4 104235 1001 6.02 18 Cytoplasm;Nucleus NA 0 PE1 NX_Q2VWP7 127076 1150 7.37 15 Cytoplasmic vesicle;Cytosol;Cell membrane;Membrane NA 1 PE1 NX_Q2VY69 69019 593 8.77 19 Nucleus NA 0 PE1 NX_Q2VYF4 55921 491 9.31 8 Cytosol;Nucleus;Mitochondrion inner membrane NA 1 PE1 NX_Q2WEN9 45873 425 5.94 19 Secreted Deafness, autosomal dominant, 4B 0 PE1 NX_Q2WGJ6 65541 581 8.19 8 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 NX_Q2WGJ8 27046 235 9.88 8 Membrane NA 2 PE1 NX_Q2WGJ9 209308 1857 5.98 8 Membrane NA 1 PE1 NX_Q2WGN9 62367 574 7.35 22 NA NA 0 PE2 NX_Q2Y0W8 122938 1093 6.22 12 Cytoskeleton;Membrane NA 11 PE1 NX_Q2YD98 80591 709 5.93 4 Nucleoplasm;Chromosome UV-sensitive syndrome 3 0 PE1 NX_Q30134 30004 266 6.66 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 NX_Q30154 30056 266 6.45 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 NX_Q30167 30002 266 7.66 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 NX_Q30201 40108 348 6.12 6 Mitochondrion;Nucleus membrane;Cell membrane Microvascular complications of diabetes 7;Hemochromatosis 1;Variegate porphyria 1 PE1 NX_Q309B1 40306 348 5.86 17 Cytoplasm NA 0 PE1 NX_Q30KP8 8755 78 9.18 8 Secreted NA 0 PE3 NX_Q30KP9 8754 77 9.54 8 Secreted NA 0 PE2 NX_Q30KQ1 7213 61 9.06 6 Secreted NA 0 PE2 NX_Q30KQ4 11544 102 8.71 20 Secreted NA 0 PE3 NX_Q30KQ5 10071 88 8.77 20 Secreted NA 0 PE3 NX_Q30KQ6 8318 69 7.5 6 Secreted NA 0 PE1 NX_Q30KQ7 9640 82 9.1 6 Secreted NA 0 PE2 NX_Q30KQ8 12991 113 8.82 6 Secreted NA 0 PE2 NX_Q30KQ9 8001 67 9.06 6 Secreted NA 0 PE2 NX_Q30KR1 9886 87 8.91 8 Secreted NA 0 PE5 NX_Q31610 40400 362 5.67 6 Membrane NA 1 PE1 NX_Q31612 40435 363 5.84 6 Membrane NA 1 PE1 NX_Q32M45 111462 955 8.45 12 Cell membrane NA 8 PE2 NX_Q32M78 73956 642 8.6 19 Nucleus NA 0 PE1 NX_Q32M84 58481 506 9.29 10 Cytosol;Nucleolus NA 0 PE1 NX_Q32M88 80655 737 5.11 11 Cytosol NA 0 PE1 NX_Q32M92 20262 178 9.34 15 NA NA 0 PE2 NX_Q32MH5 121670 1076 8.12 15 Nucleoplasm NA 0 PE1 NX_Q32MK0 88393 819 5.76 16 Cytoplasm NA 0 PE1 NX_Q32MQ0 77361 723 8.45 17 Nucleus Seborrhea-like dermatitis with psoriasiform elements 0 PE1 NX_Q32MZ4 89253 808 4.59 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q32NB8 62730 556 9.08 17 Mitochondrion;Cytoplasmic vesicle;Cytoskeleton;Cell junction NA 0 PE1 NX_Q32NC0 24827 220 10.27 18 Nucleolus;Cell membrane NA 0 PE1 NX_Q32P28 83394 736 5.05 1 Cytoplasmic vesicle;Nucleolus;Endoplasmic reticulum;Extracellular matrix Osteogenesis imperfecta 8 0 PE1 NX_Q32P41 58246 509 8.78 14 Mitochondrion matrix;Cytoplasm;Nucleolus;Nucleus Combined oxidative phosphorylation deficiency 26 0 PE1 NX_Q32P44 95197 896 6.69 11 Cytoskeleton NA 0 PE1 NX_Q32P51 34225 320 9.08 13 Cytoplasm;Nucleus NA 0 PE1 NX_Q32Q52 21196 190 8.68 12 NA NA 0 PE2 NX_Q32ZL2 35427 321 6.58 1 Cytosol;Cell membrane NA 6 PE2 NX_Q330K2 38176 333 9.44 8 Nucleus;Mitochondrion inner membrane;Cytoplasm Mitochondrial complex I deficiency 0 PE1 NX_Q33E94 83368 735 6.38 12 Nucleus NA 0 PE1 NX_Q38SD2 225393 2015 6.25 15 Mitochondrion;Cytoplasm;Cytosol NA 0 PE1 NX_Q3B726 37432 338 6.53 7 Nucleolus;Nucleus NA 0 PE1 NX_Q3B7I2 10960 92 4.92 7 NA NA 0 PE3 NX_Q3B7J2 42255 385 6.02 16 Nucleoplasm;Cytosol;Extracellular matrix NA 0 PE1 NX_Q3B7S5 11722 101 10.62 18 Membrane NA 1 PE4 NX_Q3B7T1 138528 1238 5.93 10 Nucleoplasm;Cytosol;Nucleus;Centrosome NA 0 PE1 NX_Q3B7T3 28626 259 7.8 16 Nucleoplasm;Centrosome;Membrane Spinocerebellar ataxia 31 1 PE1 NX_Q3B820 76752 660 8.21 2 Cilium;Cilium basal body Retinitis pigmentosa 28 0 PE1 NX_Q3B8N2 39660 356 9.6 17 NA NA 0 PE1 NX_Q3B8N5 65586 592 9.28 14 Nucleus NA 0 PE2 NX_Q3BBV0 139258 1214 4.74 1 Cytoplasm NA 0 PE2 NX_Q3BBV2 99215 869 4.6 1 Cytoplasm NA 0 PE5 NX_Q3C1V0 34465 323 6.27 11 Membrane NA 4 PE2 NX_Q3C1V1 20547 193 9.42 11 Cytoplasmic vesicle NA 0 PE1 NX_Q3C1V8 25933 233 6.96 11 Nucleus NA 0 PE2 NX_Q3C1V9 84939 767 7.76 11 NA NA 0 PE5 NX_Q3I5F7 22991 207 8.81 14 Cytoplasm NA 0 PE1 NX_Q3KNS1 86872 767 5.84 10 Membrane NA 8 PE1 NX_Q3KNS6 50142 432 8.21 19 Nucleus NA 0 PE1 NX_Q3KNT7 17679 163 5.47 7 NA NA 0 PE5 NX_Q3KNT9 19597 176 8.98 17 Membrane NA 1 PE2 NX_Q3KNV8 28115 242 8.54 4 Nucleoplasm;Nucleus NA 0 PE1 NX_Q3KNW1 32474 292 9.45 16 Nucleoplasm;Nucleus NA 0 PE2 NX_Q3KNW5 41259 377 8.15 4 Membrane NA 9 PE1 NX_Q3KP22 20078 176 10.11 11 Nucleus inner membrane;Telomere NA 1 PE1 NX_Q3KP31 66872 576 9.39 19 Nucleus NA 0 PE1 NX_Q3KP44 68414 614 6.72 5 NA NA 0 PE1 NX_Q3KP66 72914 663 9.42 1 Cytoplasm;Nucleus NA 0 PE1 NX_Q3KPI0 32373 293 5.83 19 Membrane NA 1 PE2 NX_Q3KQU3 92820 841 10.12 1 Cytosol;Spindle;Cytoskeleton NA 0 PE1 NX_Q3KQV3 71577 632 8.36 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q3KQV9 57030 507 5.94 9 Cytosol;Cytoskeleton NA 0 PE1 NX_Q3KQZ1 32438 300 9.21 17 Mitochondrion;Cytoplasmic vesicle;Mitochondrion inner membrane NA 6 PE1 NX_Q3KR16 88960 790 6.63 12 Cleavage furrow;Microvillus;Cell junction;Centrosome;Spindle;Spindle pole NA 0 PE1 NX_Q3KR37 85400 738 5.84 11 Endoplasmic reticulum membrane;Cytoskeleton;Nucleolus;Nucleus;Cell membrane NA 1 PE1 NX_Q3KRA6 14609 126 6.42 2 Endoplasmic reticulum NA 0 PE1 NX_Q3KRA9 26483 238 8.9 19 Nucleoplasm;Cytoplasm;Focal adhesion;Nucleus NA 0 PE1 NX_Q3KRB8 30251 267 9.27 15 Cytoplasmic vesicle NA 0 PE2 NX_Q3L8U1 326022 2897 6.56 16 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q3LFD5 41394 358 8.36 22 NA NA 0 PE2 NX_Q3LHN0 11738 102 9.01 21 Cytosol;Cell membrane;Nucleus membrane NA 0 PE3 NX_Q3LHN1 6456 58 7.51 21 NA NA 0 PE3 NX_Q3LHN2 5737 52 8.48 21 NA NA 0 PE3 NX_Q3LI54 6918 63 8.91 21 NA NA 0 PE3 NX_Q3LI58 7937 79 8.15 21 NA NA 0 PE2 NX_Q3LI59 8564 83 8.4 21 NA NA 0 PE3 NX_Q3LI60 4909 44 7.61 21 NA NA 0 PE3 NX_Q3LI61 6961 65 8.63 21 NA NA 0 PE3 NX_Q3LI62 4623 44 9.06 21 NA NA 0 PE3 NX_Q3LI63 6202 56 8.24 21 NA NA 0 PE3 NX_Q3LI64 7279 71 8.36 21 NA NA 0 PE1 NX_Q3LI66 6654 62 6.65 21 NA NA 0 PE1 NX_Q3LI67 10409 103 7.35 21 NA NA 0 PE3 NX_Q3LI68 5218 45 8.39 21 NA NA 0 PE3 NX_Q3LI70 6267 58 8.97 21 NA NA 0 PE3 NX_Q3LI72 7624 72 8.32 21 NA NA 0 PE1 NX_Q3LI73 9106 84 8.93 21 NA NA 0 PE3 NX_Q3LI76 14979 137 8.15 21 NA NA 0 PE1 NX_Q3LI77 17755 160 9.08 21 NA NA 0 PE1 NX_Q3LI81 22345 207 5.45 21 NA NA 0 PE2 NX_Q3LI83 27719 254 8.71 21 NA NA 0 PE1 NX_Q3LIE5 39529 342 5.31 17 NA NA 0 PE1 NX_Q3LXA3 58947 575 7.12 11 Cytosol;Nucleus NA 0 PE1 NX_Q3MHD2 21701 195 7.62 17 Cytosol;Cytoplasm NA 0 PE1 NX_Q3MII6 76327 688 5.75 X Cytoplasm;Autophagosome NA 0 PE1 NX_Q3MIN7 78079 710 7.6 19 Cytosol;Nucleus NA 0 PE1 NX_Q3MIP1 58446 535 9.58 16 Centrosome;Membrane NA 1 PE1 NX_Q3MIR4 38941 351 8.06 14 Cell membrane NA 2 PE1 NX_Q3MIS6 72138 628 9.37 19 Nucleus NA 0 PE1 NX_Q3MIT2 60244 529 6.1 2 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q3MIV0 5275 48 6.48 21 NA NA 0 PE3 NX_Q3MIW9 56347 517 9.01 6 Cytoplasm;Cell membrane NA 1 PE1 NX_Q3MIX3 65828 580 9.05 8 Cytosol;Cell membrane;Membrane NA 1 PE1 NX_Q3MJ13 123425 1102 6.22 15 Cytoplasmic vesicle Amelogenesis imperfecta, hypomaturation type, 2A3 0 PE1 NX_Q3MJ16 99190 868 5.46 15 Cytosol;Lysosome membrane NA 0 PE1 NX_Q3MJ40 82951 725 4.93 17 NA NA 0 PE2 NX_Q3MJ62 44955 389 5.91 6 Nucleus NA 0 PE1 NX_Q3MUY2 8058 71 6.69 4 Endoplasmic reticulum membrane Hyperphosphatasia with mental retardation syndrome 6 2 PE1 NX_Q3SX64 30781 289 10 19 NA NA 0 PE1 NX_Q3SXM0 44264 396 8.65 4 NA NA 0 PE1 NX_Q3SXM5 37002 330 8.93 16 Mitochondrion NA 0 PE1 NX_Q3SXP7 22573 199 8.95 22 Cytosol;Cytoplasmic vesicle;Membrane NA 1 PE2 NX_Q3SXR2 16908 165 8.66 3 NA NA 0 PE2 NX_Q3SXY7 74754 679 5.46 4 Endoplasmic reticulum membrane;Nucleoplasm;Perikaryon;Cytosol;Dendrite;Mitochondrion Night blindness, congenital stationary, 1F 1 PE1 NX_Q3SXY8 48643 428 6.2 3 Cytosol;Cilium membrane;Cytoskeleton;Cilium Joubert syndrome 8 0 PE1 NX_Q3SXZ3 55359 478 9.53 4 Nucleus NA 0 PE2 NX_Q3SXZ7 51472 439 8.96 20 Nucleoplasm;Cytoskeleton;Cilium basal body NA 0 PE2 NX_Q3SY00 62381 556 10.08 11 NA NA 0 PE1 NX_Q3SY05 14562 128 9.74 1 NA NA 0 PE5 NX_Q3SY17 33721 297 9.69 18 Mitochondrion inner membrane NA 6 PE2 NX_Q3SY46 19236 172 8.78 21 NA NA 0 PE1 NX_Q3SY52 54786 487 9.1 19 Cytoskeleton;Nucleus NA 0 PE1 NX_Q3SY56 39840 376 6.81 17 Nucleoplasm;Spindle;Nucleus;Centrosome NA 0 PE1 NX_Q3SY69 101746 923 6.13 12 Mitochondrion NA 0 PE1 NX_Q3SY77 59547 523 8.51 5 Cytosol;Nucleus;Membrane NA 1 PE1 NX_Q3SY84 57292 523 6.27 12 Cytoskeleton Hypotrichosis 13 0 PE1 NX_Q3SY89 59760 546 9.83 18 Nucleus NA 0 PE2 NX_Q3SYA9 45448 428 9.17 22 NA NA 0 PE5 NX_Q3SYB3 45787 417 9.76 9 Nucleus NA 0 PE1 NX_Q3SYC2 38196 334 9.47 11 Endoplasmic reticulum membrane;Perinuclear region NA 3 PE1 NX_Q3SYF9 6644 63 8.49 21 NA NA 0 PE1 NX_Q3SYG4 99280 887 5.35 7 Cilium membrane;Centriolar satellite;Centrosome;Cytoplasm Bardet-Biedl syndrome 9 0 PE1 NX_Q3T8J9 248620 2241 4.94 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q3T906 143622 1256 6.74 12 Golgi apparatus membrane;Golgi apparatus Mucolipidosis type III complementation group A;Mucolipidosis type II 2 PE1 NX_Q3V5L5 89535 792 8.68 17 Nucleoplasm;Cytoskeleton;Golgi apparatus membrane;Spindle NA 1 PE1 NX_Q3V6T2 216042 1871 5.9 2 Cytoplasmic vesicle;Cytosol;Cell membrane;Centriole;Membrane;Lamellipodium;Cilium basal body PEHO-like syndrome 0 PE1 NX_Q3Y452 10472 100 6.81 6 Cytoplasm NA 0 PE1 NX_Q3YBM2 29056 270 8.81 7 Nucleoplasm;Golgi apparatus;Cell membrane;Nucleus membrane NA 4 PE1 NX_Q3YBR2 44946 411 8.73 11 Nucleus NA 0 PE1 NX_Q3YEC7 79549 729 5.11 9 Cytosol;Cytoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q3ZAQ7 11354 101 6.56 X Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane Myopathy, X-linked, with excessive autophagy 2 PE1 NX_Q3ZCM7 49776 444 4.79 10 Cytoskeleton;Spindle Oocyte maturation defect 2 0 PE1 NX_Q3ZCN5 262091 2332 5.01 12 Cytosol;Secreted Deafness, autosomal recessive, 84B 0 PE1 NX_Q3ZCQ2 21682 193 4.88 5 Cytosol;Nucleoplasm NA 0 PE1 NX_Q3ZCQ3 16967 159 8.88 15 Cytoskeleton;Membrane NA 1 PE1 NX_Q3ZCQ8 39646 353 8.55 19 Nucleoplasm;Nucleus speckle;Mitochondrion;Mitochondrion inner membrane 3-methylglutaconic aciduria 9 1 PE1 NX_Q3ZCT1 47222 412 9.28 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q3ZCT8 71096 623 5.65 3 NA NA 0 PE1 NX_Q3ZCU0 29382 254 9.76 11 Nucleoplasm;Centrosome;Endoplasmic reticulum NA 0 PE2 NX_Q3ZCV2 47583 418 9.85 1 NA NA 0 PE1 NX_Q3ZCW2 18986 172 5.12 2 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q3ZCX4 74369 644 8.58 19 Nucleus NA 0 PE1 NX_Q3ZLR7 89431 823 9 X NA NA 0 PE2 NX_Q3ZM63 6991 59 10.43 X NA NA 0 PE1 NX_Q400G9 54924 498 5.64 7 NA NA 0 PE1 NX_Q401N2 45816 412 8.45 17 Cell membrane NA 4 PE1 NX_Q460N3 74576 678 9.02 3 Mitochondrion;Nucleus NA 0 PE1 NX_Q460N5 202800 1801 6.81 3 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q494R0 13218 122 9.41 16 NA NA 0 PE5 NX_Q494R4 23858 210 9.34 11 Cytosol NA 0 PE1 NX_Q494U1 66409 611 9.06 1 Mitochondrion;Nucleus speckle;Cytoskeleton;Mitochondrion membrane;Cell membrane NA 0 PE1 NX_Q494V2 71117 611 6.65 3 Cilium axoneme NA 0 PE1 NX_Q494W8 46218 412 6.11 15 Membrane NA 5 PE2 NX_Q494X3 65425 552 9.32 19 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_Q495A1 26319 244 5.5 3 Cell membrane NA 1 PE1 NX_Q495B1 57550 522 6.22 15 Nucleoplasm NA 0 PE1 NX_Q495C1 33365 297 9.04 4 Nucleus;Chromosome NA 0 PE2 NX_Q495D7 15996 138 9.11 12 NA NA 0 PE2 NX_Q495M3 53216 483 8.4 5 Cytoplasm;Cell membrane Hyperglycinuria;Iminoglycinuria 11 PE1 NX_Q495M9 51489 461 6.48 17 Cytosol;Cytoskeleton;Cell membrane Usher syndrome 1G 0 PE1 NX_Q495N2 51735 470 5.91 5 Membrane NA 11 PE2 NX_Q495T6 89367 779 5.64 1 Membrane;Secreted NA 1 PE1 NX_Q495W5 55816 492 5.59 10 Golgi stack membrane;Golgi apparatus;Nucleus membrane NA 1 PE1 NX_Q495X7 55114 471 8.68 4 NA NA 0 PE2 NX_Q495Y7 25253 208 8.71 7 NA NA 0 PE5 NX_Q495Y8 48300 402 9.78 7 NA NA 0 PE1 NX_Q495Z4 20099 193 11.93 17 NA NA 0 PE5 NX_Q496A3 33705 300 7.08 6 Nucleoplasm NA 0 PE1 NX_Q496F6 22918 205 8.22 17 Cell membrane NA 1 PE1 NX_Q496H8 17786 165 8.35 16 Cell membrane NA 0 PE1 NX_Q496J9 82342 727 4.92 5 Nucleoplasm;Cytoplasmic vesicle;Synaptic vesicle membrane NA 12 PE1 NX_Q496M5 36329 336 5.99 19 Cytoplasm;Nucleolus NA 0 PE1 NX_Q496Y0 84490 759 7 X Nucleus;Cell membrane NA 0 PE1 NX_Q499Y3 20452 187 7.62 10 NA NA 0 PE2 NX_Q499Z3 45603 407 5.61 1 Cytosol NA 0 PE1 NX_Q499Z4 50224 452 10.01 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q49A17 69788 601 7.11 4 Golgi apparatus membrane NA 1 PE2 NX_Q49A26 60547 553 9.26 16 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_Q49A33 23384 203 9.13 4 Nucleus NA 0 PE5 NX_Q49A88 106302 953 8.65 3 Centriolar satellite;Centrosome NA 0 PE1 NX_Q49A92 59434 538 5.76 8 Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 NX_Q49AA0 61181 526 8.78 1 Nucleus NA 0 PE1 NX_Q49AG3 78911 693 8.57 11 Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 NX_Q49AH0 20964 187 7.5 10 Secreted NA 0 PE1 NX_Q49AJ0 155770 1406 5.53 8 Nucleoplasm;Nucleus membrane NA 0 PE1 NX_Q49AM1 44414 385 9.15 12 Mitochondrion;Mitochondrion nucleoid NA 0 PE1 NX_Q49AM3 57105 519 8.52 2 Nucleoplasm;Cytosol NA 0 PE1 NX_Q49AN0 66947 593 8.66 11 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q49AR2 49967 442 4.65 5 Nucleus membrane NA 0 PE1 NX_Q49AS3 12596 106 10.02 9 NA NA 0 PE5 NX_Q49B96 10394 90 8.95 7 Cytosol;Mitochondrion;Mitochondrion intermembrane space NA 0 PE1 NX_Q49MG5 74234 647 7.59 4 Cytoplasm;Cytoskeleton;Spindle NA 0 PE1 NX_Q49MI3 62622 558 8.57 2 Nucleolus;Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Cytosol;trans-Golgi network Retinitis pigmentosa 26 0 PE1 NX_Q49SQ1 38232 333 9.57 14 Cell membrane NA 7 PE2 NX_Q4AC94 260389 2353 6.7 11 Centriole;Cilium basal body;Nucleus;Microtubule organizing center Orofaciodigital syndrome 14 0 PE1 NX_Q4AC99 65249 568 6.05 11 NA NA 0 PE1 NX_Q4ADV7 159301 1423 5.95 9 Cytosol;Membrane NA 1 PE1 NX_Q4AE62 52597 458 6.83 2 Cytosol NA 0 PE1 NX_Q4FZB7 99187 885 8.98 11 Nucleus;Chromosome Mental retardation, autosomal dominant 51 0 PE1 NX_Q4G0A6 84372 757 6.47 7 Cytosol;Cytoplasmic vesicle NA 0 PE1 NX_Q4G0F5 39155 336 6.85 11 Cytoplasm;Membrane;Late endosome;Early endosome NA 0 PE1 NX_Q4G0G2 11005 97 6.8 3 NA NA 0 PE5 NX_Q4G0G5 10563 96 4.57 19 Secreted NA 0 PE3 NX_Q4G0I0 15004 132 6.51 16 Membrane NA 1 PE1 NX_Q4G0J3 66899 582 9.57 4 Cytosol;Nucleoplasm Alazami syndrome 0 PE1 NX_Q4G0M1 37279 354 9.88 2 Microtubule organizing center;Endoplasmic reticulum;Secreted NA 0 PE2 NX_Q4G0N0 11568 100 5.61 9 Golgi stack membrane NA 1 PE1 NX_Q4G0N4 49433 442 8.46 5 Mitochondrion 2,4-dienoyl-CoA reductase deficiency 0 PE1 NX_Q4G0N7 8717 80 9.02 6 Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 NX_Q4G0N8 135206 1177 6.72 3 Flagellum membrane NA 16 PE1 NX_Q4G0P3 575892 5121 5.73 16 Cytosol;Cilium;Cell membrane Ciliary dyskinesia, primary, 5 0 PE1 NX_Q4G0S4 42632 372 9.31 2 Cytoplasmic vesicle;Membrane NA 0 PE1 NX_Q4G0S7 29979 254 9.11 5 Nucleoplasm;Cytosol NA 0 PE1 NX_Q4G0T1 108611 1027 5.76 10 Membrane NA 1 PE1 NX_Q4G0U5 96891 840 8.79 2 Cytoplasm;Cilium axoneme NA 0 PE1 NX_Q4G0W2 18324 176 8.61 2 Cytosol;Nucleus speckle NA 0 PE1 NX_Q4G0X4 29643 260 6.09 11 Cytosol NA 0 PE1 NX_Q4G0X9 130113 1142 5.21 17 Cytoplasm;Cytoskeleton;Cilium Ciliary dyskinesia, primary, 15 0 PE1 NX_Q4G0Z9 76219 681 6.79 8 Cytoskeleton NA 0 PE1 NX_Q4G112 65278 596 6.78 17 Nucleus NA 0 PE1 NX_Q4G148 50567 440 8.92 12 Membrane NA 1 PE1 NX_Q4G163 78402 708 8.4 8 NA NA 0 PE1 NX_Q4G176 64130 576 8.64 16 Mitochondrion Combined malonic and methylmalonic aciduria 0 PE1 NX_Q4G1C9 40179 344 4.88 12 Membrane NA 1 PE1 NX_Q4J6C6 83927 727 5.96 2 Cytosol;Cytoplasm Hypotonia-cystinuria syndrome;Myasthenic syndrome, congenital, 22 0 PE1 NX_Q4JDL3 48423 420 5.54 10 Cytoplasm;Nucleus;Centrosome;Microtubule organizing center NA 0 PE1 NX_Q4KMG0 139147 1287 6.04 11 Cell membrane Holoprosencephaly 11 1 PE1 NX_Q4KMG9 20002 183 5.39 12 Focal adhesion;Membrane NA 1 PE2 NX_Q4KMP7 87199 808 9.27 16 Cytoplasm NA 0 PE1 NX_Q4KMQ1 75556 711 6.82 9 Stereocilium;Cell membrane Deafness, autosomal recessive, 79 0 PE1 NX_Q4KMQ2 106165 910 7.92 12 Cytosol;Cell membrane Scott syndrome 8 PE1 NX_Q4KMX7 18795 169 5.78 17 NA NA 0 PE2 NX_Q4KMZ1 53032 466 8.22 1 Cytoplasmic vesicle NA 0 PE1 NX_Q4KMZ8 23552 207 5.21 1 Cell membrane NA 3 PE2 NX_Q4KWH8 189223 1693 7.87 3 Cytoplasmic vesicle;Cytoplasm;Membrane NA 0 PE1 NX_Q4L180 130382 1135 6.17 3 Cytoplasm;Nucleus;Cell membrane;Membrane NA 0 PE1 NX_Q4L235 122597 1098 6.9 4 NA NA 0 PE1 NX_Q4LDE5 390170 3571 5.32 9 Cytoplasm;Membrane;Secreted NA 0 PE1 NX_Q4LDG9 21533 190 5.87 14 Nucleus;Cilium axoneme;Microtubule organizing center Ciliary dyskinesia, primary, 16 0 PE1 NX_Q4LDR2 8933 81 4.56 5 Membrane NA 1 PE2 NX_Q4LE39 147809 1312 5.04 1 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytoplasm NA 0 PE1 NX_Q4LEZ3 17575 155 5.81 8 Lipid droplet NA 0 PE1 NX_Q4QY38 7552 66 6.52 8 Secreted NA 0 PE2 NX_Q4U2R6 15095 128 11.27 12 Mitochondrion NA 0 PE1 NX_Q4U2R8 61816 563 9.05 11 Cell membrane NA 12 PE1 NX_Q4UJ75 94149 823 8.11 9 NA NA 0 PE4 NX_Q4V321 12957 117 4.17 X NA NA 0 PE2 NX_Q4V326 12217 110 4.3 X NA NA 0 PE2 NX_Q4V328 96006 841 5.08 X Cytoplasmic vesicle;Synapse;Cytosol;Early endosome membrane;Axon;Dendrite;Recycling endosome membrane NA 0 PE1 NX_Q4V339 43964 395 4.76 9 NA NA 0 PE3 NX_Q4V348 94331 819 8.9 9 Nucleus NA 0 PE2 NX_Q4V9L6 29203 283 4.5 12 Endoplasmic reticulum membrane;Cytoplasm;Cell membrane NA 1 PE1 NX_Q4VC05 22810 210 5.01 12 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 NX_Q4VC12 51289 460 6.49 10 Cytoplasmic vesicle;Cytosol NA 0 PE1 NX_Q4VC31 16620 144 7.67 3 Mitochondrion;Nucleolus NA 0 PE1 NX_Q4VC39 11405 106 8.55 15 Membrane NA 2 PE5 NX_Q4VC44 80108 716 8.68 16 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q4VCS5 118085 1084 7.27 X Nucleus;Cell junction;Tight junction NA 0 PE1 NX_Q4VNC0 137327 1218 8.19 3 Membrane NA 10 PE2 NX_Q4VNC1 133987 1196 6.27 3 Nucleoplasm;Membrane NA 11 PE1 NX_Q4VX62 22766 202 8.57 6 NA NA 0 PE4 NX_Q4VX76 68560 610 9.41 6 Cytoplasmic vesicle;Nucleolus;Endomembrane system NA 0 PE1 NX_Q4VXA5 27160 237 8.58 6 Mitochondrion;Cytosol;Membrane NA 2 PE2 NX_Q4VXF1 18188 159 9.41 9 Membrane NA 1 PE5 NX_Q4VXU2 68392 614 9.06 20 Cytosol;Nucleus NA 0 PE1 NX_Q4W4Y0 36306 310 6.18 14 Cytosol NA 0 PE2 NX_Q4W5G0 59623 525 9.12 4 Nucleus NA 0 PE1 NX_Q4W5N1 17479 156 9.43 4 NA NA 0 PE2 NX_Q4W5P6 14221 130 10.29 4 Secreted NA 0 PE2 NX_Q4ZG55 216467 1949 6.49 2 Mitochondrion;Cytosol;Membrane NA 1 PE1 NX_Q4ZHG4 205558 1894 9.35 6 Nucleus speckle;Secreted NA 0 PE1 NX_Q4ZIN3 67889 620 5.14 19 Endoplasmic reticulum membrane;Nucleus speckle;Endoplasmic reticulum NA 4 PE1 NX_Q4ZJI4 56054 515 8.27 4 Flagellum membrane NA 13 PE1 NX_Q502W6 145748 1294 7.01 2 Cytoplasm;Nucleus Spinocerebellar ataxia, autosomal recessive, 22 0 PE1 NX_Q502W7 65315 563 8.81 12 Nucleolus;Nucleus;Centrosome NA 0 PE1 NX_Q502X0 8939 79 5.4 2 Nucleoplasm;Nucleus;Acrosome NA 0 PE1 NX_Q504Q3 135368 1202 5.64 12 Cytoplasm;P-body;Nucleus NA 0 PE1 NX_Q504T8 49213 468 9.67 19 Nucleoplasm;Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q504U0 11899 113 4.24 4 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q504Y0 76666 691 5.85 10 Membrane NA 8 PE1 NX_Q504Y2 54132 493 8.76 2 Golgi apparatus;Secreted NA 0 PE1 NX_Q504Y3 41376 356 5.56 3 Nucleus speckle NA 0 PE1 NX_Q50LG9 55257 513 9.24 8 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q52LA3 13001 116 4.89 14 Nucleus speckle NA 0 PE1 NX_Q52LC2 25310 224 9.6 5 Cytosol;Nucleolus;Membrane NA 1 PE2 NX_Q52LD8 55922 501 5.56 2 Cell membrane NA 0 PE1 NX_Q52LG2 18727 175 8.72 21 NA NA 0 PE1 NX_Q52LJ0 37191 330 5.96 15 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q52LR7 91095 807 8.95 2 Nucleus speckle;Nucleus NA 0 PE1 NX_Q52LW3 142064 1261 6.32 1 Cytosol;Nucleus;Centrosome;Cell membrane NA 0 PE1 NX_Q52M58 13861 125 9.23 14 NA NA 0 PE2 NX_Q52M75 10857 96 9.96 5 NA NA 0 PE4 NX_Q52M93 88066 769 9.26 19 Nucleus NA 0 PE1 NX_Q52MB2 20484 194 4.04 12 Cytosol;Cytoplasm;Mitochondrion NA 0 PE1 NX_Q52WX2 46252 424 9.28 16 Cytoplasm NA 0 PE1 NX_Q537H7 11356 98 10.08 1 NA NA 0 PE1 NX_Q538Z0 6437 58 9.7 7 Lipid droplet NA 0 PE2 NX_Q53EL6 51735 469 5.07 10 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q53EL9 107425 994 5.16 17 Cytoskeleton;Cell membrane NA 1 PE1 NX_Q53EP0 132888 1204 5.64 3 Endoplasmic reticulum;Membrane NA 1 PE1 NX_Q53EQ6 69222 642 8.68 8 Nucleus NA 0 PE1 NX_Q53ET0 73302 693 6.6 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q53EU6 48705 434 9.05 4 Endoplasmic reticulum membrane;Cytosol;Cell membrane NA 3 PE1 NX_Q53EV4 39761 343 4.57 12 Nucleolus NA 0 PE1 NX_Q53EZ4 54178 464 6.55 10 Cleavage furrow;Cytoplasm;Midbody ring;Cell membrane;Centrosome;Centriole;Microtubule organizing center;Midbody Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 0 PE1 NX_Q53F19 70593 620 5.55 17 Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 NX_Q53F39 45141 396 6.71 18 Nucleoplasm;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus NA 2 PE1 NX_Q53FA7 35536 332 6.66 2 Cytoplasmic vesicle NA 0 PE1 NX_Q53FD0 51658 456 9.58 14 Mitochondrion;Cytoplasm;Nucleus speckle NA 0 PE1 NX_Q53FE4 39644 359 9.4 4 NA NA 0 PE1 NX_Q53FP2 18440 167 10.09 X Cytosol;Cytoplasmic vesicle;Focal adhesion;Peroxisome membrane NA 4 PE1 NX_Q53FT3 21628 197 5.27 11 Cytosol;Cytoplasm;Nucleus Leukodystrophy, hypomyelinating, 13 0 PE1 NX_Q53FV1 17363 153 9.64 12 Endoplasmic reticulum membrane NA 2 PE1 NX_Q53FZ2 66153 586 9.16 16 Mitochondrion matrix NA 0 PE1 NX_Q53G44 51322 452 6.33 1 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q53G59 63277 568 5.26 1 Cytoplasmic vesicle;COPII-coated vesicle;Microtubule organizing center NA 0 PE1 NX_Q53GA4 17092 152 9.3 11 Cytoplasm;Nucleolus;Membrane NA 0 PE1 NX_Q53GD3 79254 710 8.91 6 Apical cell membrane;Membrane Deafness, autosomal dominant, 72 10 PE1 NX_Q53GG5 39232 364 6.42 4 Z line NA 0 PE1 NX_Q53GI3 64256 561 8.14 7 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q53GL0 46237 409 8.93 1 Mitochondrion;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q53GL7 109998 1025 4.9 8 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 NX_Q53GQ0 34324 312 9.34 11 Endoplasmic reticulum membrane NA 3 PE1 NX_Q53GS7 79836 698 7.06 9 Cytoplasm;Nuclear pore complex;Nucleolus;Nucleus;Nucleus membrane Lethal arthrogryposis with anterior horn cell disease;Lethal congenital contracture syndrome 1 0 PE1 NX_Q53GS9 65381 565 9.02 2 Nucleoplasm;Nucleus NA 0 PE1 NX_Q53GT1 71667 634 5.28 22 Golgi apparatus;Lysosome;Cytosol;Centrosome;Nucleus;Cytoskeleton;Spindle NA 0 PE1 NX_Q53H12 47137 422 8.3 7 Cytoplasmic vesicle;Mitochondrion;Mitochondrion inner membrane;Mitochondrion intermembrane space Mitochondrial DNA depletion syndrome 10;Cataract 38 0 PE1 NX_Q53H47 78034 684 6.75 3 Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_Q53H54 50236 448 8.21 8 Mitochondrion;Nucleoplasm NA 0 PE1 NX_Q53H64 13397 114 7.65 17 NA NA 0 PE4 NX_Q53H76 49715 456 7.11 3 Nucleus speckle;Secreted NA 0 PE1 NX_Q53H80 22496 203 8.96 6 Nucleoplasm;Nucleus NA 0 PE1 NX_Q53H82 32806 288 6.32 8 Mitochondrion matrix;Cytosol;Nucleus;Golgi apparatus NA 0 PE1 NX_Q53H96 28663 274 7.66 8 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 NX_Q53HC0 36961 331 8.96 12 Centriole;Nucleoplasm;Centrosome NA 0 PE1 NX_Q53HC5 68139 615 6.04 19 NA NA 0 PE1 NX_Q53HC9 43603 387 4.87 2 Cytoskeleton;Nucleolus;Nucleus;trans-Golgi network NA 0 PE1 NX_Q53HI1 30373 259 9.5 2 Golgi apparatus membrane;Nucleus inner membrane;Endoplasmic reticulum NA 5 PE1 NX_Q53HL2 31323 280 9.88 1 Nucleolus;Cytoplasm;Nucleus;Cytoskeleton;Centromere;Spindle NA 0 PE1 NX_Q53HV7 29862 270 6.18 12 Cytoplasmic vesicle;Nucleus;Centrosome NA 0 PE1 NX_Q53LP3 55672 525 6.55 2 Cytosol NA 0 PE1 NX_Q53QV2 12217 105 4.33 2 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_Q53QW1 41589 395 4.97 2 Cytoplasm NA 0 PE1 NX_Q53QZ3 54544 475 9.42 2 Cytoplasmic vesicle;Cytoplasm;Membrane;Golgi apparatus;Nucleoplasm NA 0 PE1 NX_Q53R12 25075 229 6.4 2 Endoplasmic reticulum membrane;Focal adhesion;Cell membrane;Membrane Specific language impairment 5 4 PE1 NX_Q53R41 97411 847 7.8 2 Mitochondrion;Nucleoplasm NA 0 PE1 NX_Q53RD9 47376 439 7.88 2 Cell junction;Cell membrane;Extracellular matrix NA 0 PE1 NX_Q53RE8 19651 183 6.39 2 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 NX_Q53RT3 36991 343 5.28 2 Membrane NA 1 PE1 NX_Q53RY4 25627 240 8.12 2 Cytosol;Nucleus;Membrane NA 4 PE1 NX_Q53S08 28242 254 6.41 2 NA NA 0 PE2 NX_Q53S33 12114 107 9.66 2 Mitochondrion Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 0 PE1 NX_Q53S58 33760 311 9.66 2 Mitochondrion inner membrane;Nucleolus;Nucleus NA 3 PE1 NX_Q53S99 16373 150 6.18 2 Endoplasmic reticulum NA 0 PE2 NX_Q53SF7 131787 1204 6.22 2 Cell junction NA 0 PE1 NX_Q53SZ7 44690 412 10.39 2 NA NA 0 PE1 NX_Q53T59 42780 392 4.89 2 Cytosol;Nucleolus NA 0 PE1 NX_Q53T94 68832 588 8.27 2 Nucleolus;Nucleus NA 0 PE1 NX_Q53TN4 31641 286 8.89 2 Cytosol;Golgi apparatus;Membrane NA 6 PE1 NX_Q53TQ3 98174 878 8.48 2 Nucleus NA 0 PE1 NX_Q53TS8 71159 623 6.55 2 NA NA 0 PE1 NX_Q562E7 211697 1941 5.37 17 Autophagosome membrane;Lysosome membrane;Cytosol;Early endosome membrane;Nucleoplasm;Late endosome membrane;Mitochondrion Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2;Hydrocephalus, congenital, 3, with brain anomalies 0 PE1 NX_Q562F6 144739 1265 8.09 2 Kinetochore;Centromere;Nucleus;Nucleoplasm NA 0 PE1 NX_Q562R1 42003 376 5.39 5 Cytoskeleton NA 0 PE1 NX_Q567U6 73198 631 8.24 2 Cytoplasmic vesicle;Cell membrane;Early endosome NA 0 PE1 NX_Q567V2 23180 206 9.41 19 Cytosol;Mitochondrion inner membrane;Cell membrane;Membrane NA 3 PE1 NX_Q569G3 19206 176 10.49 5 NA NA 0 PE1 NX_Q569H4 32812 304 9.09 5 Cytosol;Nucleus;Midbody NA 0 PE1 NX_Q569K4 50407 471 9.92 2 Nucleolus;Nucleus NA 0 PE1 NX_Q569K6 83941 752 6.76 22 NA NA 0 PE1 NX_Q56A73 28660 249 7.13 X Cytosol;Nucleolus NA 0 PE1 NX_Q56NI9 68307 601 9.46 8 Nucleus;Chromosome;Golgi apparatus SC phocomelia syndrome;Roberts syndrome 0 PE1 NX_Q56P03 32762 285 5 14 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q56P42 10795 97 5.21 3 Cytoplasm;Nucleus NA 0 PE1 NX_Q56UN5 150537 1328 6.61 2 Cytosol NA 0 PE1 NX_Q56UQ5 15757 140 5.81 X NA NA 0 PE2 NX_Q56VL3 16954 154 9.24 4 Mitochondrion;Endosome NA 0 PE1 NX_Q587I9 21790 215 9.96 2 Membrane NA 4 PE1 NX_Q587J7 132578 1177 6.3 19 NA NA 0 PE1 NX_Q587J8 24306 217 9.47 6 NA Hydatidiform mole, recurrent, 2 0 PE1 NX_Q58A44 10968 107 10.45 13 Cytoplasm NA 0 PE1 NX_Q58A45 95613 887 8.8 13 P-body NA 0 PE1 NX_Q58DX5 88682 795 5.78 3 Nucleoplasm;Membrane NA 1 PE1 NX_Q58EX2 239396 2172 6.62 17 Nucleoplasm;Synapse;Cell membrane NA 1 PE1 NX_Q58EX7 130803 1191 5.43 16 Cell junction NA 0 PE1 NX_Q58F21 107954 947 9.05 1 Nucleus Spermatogenic failure 21 0 PE1 NX_Q58FF3 45859 399 5.14 15 NA NA 0 PE5 NX_Q58FF6 58264 505 4.65 15 Cytoplasm NA 0 PE5 NX_Q58FF7 68325 597 4.71 4 Cytoplasm NA 0 PE5 NX_Q58FF8 44349 381 4.79 4 Cytoplasm NA 0 PE1 NX_Q58FG0 38738 334 6.15 3 Cytoplasm NA 0 PE1 NX_Q58FG1 47712 418 5.07 4 Cytoplasm NA 0 PE5 NX_Q58G82 21436 188 9.56 4 NA NA 0 PE5 NX_Q58HT5 37759 328 9.06 X Endoplasmic reticulum membrane NA 2 PE1 NX_Q58WW2 96292 860 5.14 1 Focal adhesion;Nucleus NA 0 PE1 NX_Q59EK9 49747 446 5.19 17 Cytoplasmic vesicle NA 0 PE1 NX_Q59GN2 6323 51 12.32 3 NA NA 0 PE5 NX_Q59H18 92851 835 6.27 1 Cytoplasm;Nucleus Cardiac conduction disease with or without dilated cardiomyopathy 0 PE1 NX_Q5BIV9 14522 151 11.36 10 Cell membrane NA 0 PE2 NX_Q5BJD5 32513 291 9.6 11 Endoplasmic reticulum membrane;Peroxisome NA 6 PE1 NX_Q5BJE1 102011 867 6.34 18 NA NA 0 PE1 NX_Q5BJF2 20848 176 9.42 17 Cytosol;Rough endoplasmic reticulum membrane;Cell membrane;Nucleus membrane NA 4 PE1 NX_Q5BJF6 95401 829 7.53 9 Centriole;Flagellum;Centrosome;Spindle pole;Cilium NA 0 PE1 NX_Q5BJH2 18822 165 6.27 4 Membrane NA 4 PE1 NX_Q5BJH7 34435 314 9.21 19 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 5 PE1 NX_Q5BKT4 55606 473 9.4 12 Endoplasmic reticulum membrane NA 12 PE2 NX_Q5BKU9 15855 147 8.57 17 Cytoplasmic vesicle;Cytosol NA 0 PE1 NX_Q5BKX5 37779 351 7.13 19 NA NA 0 PE1 NX_Q5BKX6 83878 768 5.33 8 Cell membrane;Membrane NA 12 PE1 NX_Q5BKX8 41899 364 8.29 9 Sarcomere;Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Sarcolemma;Caveola NA 0 PE1 NX_Q5BKY1 31642 277 8.79 12 Nucleus NA 0 PE1 NX_Q5BKY6 10947 102 7.82 22 NA NA 0 PE1 NX_Q5BKY9 28385 247 10.02 7 Nucleus NA 0 PE1 NX_Q5BKZ1 65654 582 5.08 1 Nucleoplasm;Cytoplasmic vesicle;Nucleus matrix;Golgi apparatus NA 0 PE1 NX_Q5BLP8 10170 95 8.69 4 Cytosol;Secreted NA 0 PE1 NX_Q5BN46 15260 136 9.06 9 Nucleoplasm;Cytosol NA 0 PE1 NX_Q5BVD1 24295 217 4.02 3 Endoplasmic reticulum membrane NA 1 PE1 NX_Q5C9Z4 96257 860 8.28 7 Nucleolus NA 0 PE1 NX_Q5CZ79 93909 823 8.55 2 NA NA 0 PE2 NX_Q5CZA5 71143 627 7.83 19 Nucleus NA 0 PE1 NX_Q5CZC0 780607 6907 6.27 2 Mitochondrion;Cytoskeleton NA 0 PE1 NX_Q5D0E6 59363 543 7.07 3 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q5D1E8 65699 599 6.5 1 P-body;Cytosol;Nucleoplasm;Cytoplasm;Cytoplasmic granule;Rough endoplasmic reticulum membrane;Nucleus NA 0 PE1 NX_Q5D862 248073 2391 8.45 1 Cytoplasm;Cytoplasmic granule NA 0 PE1 NX_Q5DID0 144294 1318 5.75 21 Cytoplasm;Cell membrane NA 1 PE2 NX_Q5DJT8 21363 189 9.67 X NA NA 0 PE2 NX_Q5DT21 9756 86 9.17 5 Secreted NA 0 PE1 NX_Q5DX21 46120 431 6.63 3 Cytosol;Nucleus;Cell junction;Cell membrane NA 1 PE1 NX_Q5EB52 38830 335 9.75 7 Endoplasmic reticulum membrane;Cytosol;Golgi apparatus NA 3 PE1 NX_Q5EBL2 110887 1059 8.69 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q5EBL4 47108 403 5.13 12 Cytosol;Nucleoplasm;Centrosome;Cell membrane;Cilium NA 0 PE1 NX_Q5EBL8 16131 140 6.65 X Cytoplasm;Nucleus;Secreted NA 0 PE1 NX_Q5EBM0 49448 449 6.57 2 Mitochondrion NA 0 PE1 NX_Q5EBM4 19729 170 9.47 19 Nucleus NA 0 PE5 NX_Q5EBN2 24047 209 8.83 4 Nucleolus;Endoplasmic reticulum NA 0 PE2 NX_Q5EE01 10061 88 11.29 6 Kinetochore;Nucleolus;Nucleoplasm;Nucleus;Nucleus matrix;Centromere NA 0 PE1 NX_Q5EG05 22625 197 8.72 11 Mitochondrion NA 0 PE1 NX_Q5F1R6 62028 531 5.34 5 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus Bone marrow failure syndrome 3 0 PE1 NX_Q5FBB7 64190 561 9.27 3 Kinetochore;Cytosol;Centrosome;Nucleoplasm;Nucleus;Centromere;Spindle pole Chronic atrial and intestinal dysrhythmia 0 PE1 NX_Q5FVE4 74354 666 8.67 19 Cytosol;Cytoplasm;Membrane NA 0 PE1 NX_Q5FWE3 102197 981 7.7 3 Cytosol;Nucleus;Cell membrane;Membrane NA 7 PE1 NX_Q5FWF4 123248 1079 8.74 2 Nucleus;Chromosome NA 0 PE1 NX_Q5FWF5 94983 840 9.27 18 Nucleus;Chromosome NA 0 PE1 NX_Q5FWF6 49984 425 9.3 7 Nucleoplasm;Nucleus NA 0 PE1 NX_Q5FWF7 18241 155 6.9 2 Nucleus NA 0 PE1 NX_Q5FYA8 63525 562 8.48 X Membrane NA 2 PE2 NX_Q5FYB0 67235 599 9.15 4 Cytoskeleton;Nucleolus;Secreted NA 0 PE1 NX_Q5FYB1 64030 569 8.82 5 Golgi apparatus;Endoplasmic reticulum;Secreted NA 0 PE1 NX_Q5GAN3 17845 156 8.87 14 Secreted NA 0 PE1 NX_Q5GAN4 17177 147 6.64 14 Cytoplasmic vesicle;Cytoskeleton;Secreted NA 0 PE2 NX_Q5GAN6 24008 216 4.86 14 Secreted NA 0 PE2 NX_Q5GFL6 82012 755 8.38 10 Secreted NA 0 PE1 NX_Q5GH70 43406 373 8.55 8 Mitochondrion;Membrane NA 8 PE1 NX_Q5GH72 63826 579 9.22 20 Membrane NA 7 PE1 NX_Q5GH73 71638 641 8.19 8 Cytoskeleton;Membrane NA 7 PE1 NX_Q5GH76 71501 650 8.08 8 Membrane NA 10 PE1 NX_Q5GH77 53448 459 9.13 22 Cell membrane NA 10 PE1 NX_Q5GJ75 32659 292 8.75 15 Cytosol;Nucleoplasm;Cell membrane;Cytoplasm NA 0 PE1 NX_Q5GLZ8 118563 1057 5.8 10 Cytosol;Nucleolus NA 0 PE1 NX_Q5H8A3 17731 153 9.76 2 Secreted NA 0 PE2 NX_Q5H8A4 108173 983 6.7 4 Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum membrane Mental retardation, autosomal recessive 53 12 PE1 NX_Q5H8C1 244154 2179 5.55 9 Basement membrane Manitoba oculotrichoanal syndrome;Bifid nose, with or without anorectal and renal anomalies;Trigonocephaly 2 0 PE1 NX_Q5H913 33003 290 9.24 X NA NA 0 PE1 NX_Q5H943 12784 113 10.2 X Cell membrane NA 1 PE1 NX_Q5H9B9 46091 411 5.4 X NA NA 0 PE5 NX_Q5H9E4 34481 307 9.86 X Mitochondrion inner membrane NA 6 PE1 NX_Q5H9F3 182526 1711 6.9 X Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q5H9I0 44967 405 5.91 X Cytoplasm;Nucleus NA 0 PE1 NX_Q5H9J7 12602 111 4.73 X Cytoplasm NA 0 PE1 NX_Q5H9J9 46373 407 5.07 X NA NA 0 PE3 NX_Q5H9K5 74755 638 8.65 X Nucleoplasm;Nucleus NA 0 PE2 NX_Q5H9L2 23307 206 4.74 X Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q5H9L4 52588 462 4.55 X Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q5H9M0 79040 696 4.88 X NA NA 0 PE1 NX_Q5H9R4 39406 360 9.27 X Membrane NA 1 PE1 NX_Q5H9R7 97669 873 4.5 11 Nucleoplasm;Cytosol;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 NX_Q5H9S7 58778 520 6.58 2 Nucleoplasm;Nucleolus;Membrane Woodhouse-Sakati syndrome 2 PE1 NX_Q5H9T9 87956 825 4.22 14 Cytoplasm;Flagellum NA 0 PE1 NX_Q5H9U9 197674 1706 8.57 4 Cytosol;Cell membrane NA 0 PE1 NX_Q5HY64 115338 1035 6.74 X NA NA 0 PE2 NX_Q5HY92 82146 759 6.24 2 Nucleoplasm;Cell membrane;Cell junction;Cytoplasmic vesicle;Cytosol;Nucleus matrix;Centrosome NA 0 PE1 NX_Q5HY98 54507 468 9.55 19 Nucleus;Centrosome NA 0 PE1 NX_Q5HYA8 111745 995 6.34 8 Endoplasmic reticulum membrane;Cilium;Cell membrane;Cilium basal body Joubert syndrome 6;COACH syndrome;Nephronophthisis 11;Bardet-Biedl syndrome 14;Meckel syndrome 3 6 PE1 NX_Q5HYC2 228087 2103 9.18 9 Cytoplasmic vesicle;Cytosol;Nucleus NA 0 PE1 NX_Q5HYI7 35093 312 7.64 5 Mitochondrion;Mitochondrion outer membrane NA 0 PE1 NX_Q5HYI8 26423 236 6.6 3 Nucleoplasm NA 0 PE1 NX_Q5HYJ1 42009 363 9.63 4 Endoplasmic reticulum;Membrane Ventricular tachycardia, catecholaminergic polymorphic, 3 3 PE1 NX_Q5HYJ3 38708 339 9.38 11 Nucleus speckle;Nucleolus;Nucleus NA 0 PE1 NX_Q5HYK3 37140 327 6.47 12 Mitochondrion;Nucleolus;Mitochondrion inner membrane NA 0 PE1 NX_Q5HYK7 86525 790 8.54 4 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q5HYK9 70161 610 9.79 19 Nucleus NA 0 PE1 NX_Q5HYL7 19025 178 8.52 7 Membrane NA 4 PE2 NX_Q5HYM0 94205 836 7.6 X Cytoplasmic vesicle;Golgi apparatus;Endoplasmic reticulum NA 0 PE2 NX_Q5HYN5 21273 189 9.85 X NA NA 0 PE2 NX_Q5HYR2 20139 192 6.5 X NA NA 0 PE2 NX_Q5HYW2 76301 709 7.25 X NA NA 0 PE1 NX_Q5HYW3 64711 569 4.71 X Nucleoplasm NA 0 PE1 NX_Q5I0G3 58651 518 5.85 2 NA NA 0 PE1 NX_Q5I0X4 10566 101 8.02 6 Nucleus speckle NA 0 PE1 NX_Q5I0X7 17296 151 4.86 2 Nucleoplasm;Mitochondrion NA 0 PE1 NX_Q5I7T1 55448 473 9.33 12 Cell membrane NA 12 PE1 NX_Q5IJ48 134265 1285 5.31 9 Apical cell membrane;Secreted Ventriculomegaly with cystic kidney disease;Focal segmental glomerulosclerosis 9 1 PE1 NX_Q5J5C9 8456 76 8.99 20 Secreted NA 0 PE1 NX_Q5J8M3 20087 183 8.84 15 Focal adhesion;Cell junction;Membrane NA 2 PE1 NX_Q5J8X5 17307 152 8.82 11 Membrane NA 4 PE2 NX_Q5JNZ3 76322 666 9.03 6 Nucleus NA 0 PE1 NX_Q5JNZ5 13002 115 10.55 X NA NA 0 PE5 NX_Q5JPB2 177949 1677 8.67 20 NA NA 0 PE1 NX_Q5JPE7 139439 1267 5.5 16 Endoplasmic reticulum membrane NA 1 PE1 NX_Q5JPF3 199748 1778 8.02 2 NA NA 0 PE1 NX_Q5JPH6 58689 523 8.97 16 Mitochondrion matrix;Mitochondrion;Nucleoplasm Combined oxidative phosphorylation deficiency 12 0 PE1 NX_Q5JPI3 37541 329 6.01 3 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 NX_Q5JPI9 31830 291 5.77 10 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q5JQC4 30100 288 4.2 X NA NA 0 PE1 NX_Q5JQC9 94477 854 6.56 X Flagellum NA 0 PE1 NX_Q5JQD4 7832 70 4.43 X Secreted NA 0 PE5 NX_Q5JQF7 7289 62 11.22 6 NA NA 0 PE4 NX_Q5JQF8 22799 200 9.18 X NA NA 0 PE1 NX_Q5JQS5 35342 317 9.12 1 Cell membrane NA 7 PE2 NX_Q5JQS6 15712 135 6.22 1 Cytosol NA 0 PE1 NX_Q5JR12 54834 505 7.19 1 Cytoplasmic vesicle NA 0 PE1 NX_Q5JR59 150195 1369 6.23 13 Cytoskeleton NA 0 PE1 NX_Q5JR98 23353 221 9.87 1 NA NA 0 PE1 NX_Q5JRA6 213702 1907 4.76 1 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 1 PE1 NX_Q5JRC9 90592 791 9.24 X NA NA 0 PE1 NX_Q5JRK9 12041 111 4.06 X NA NA 0 PE1 NX_Q5JRM2 39944 361 9.59 X Membrane NA 1 PE1 NX_Q5JRS4 36549 329 8.66 1 Cell membrane NA 7 PE3 NX_Q5JRV8 38449 349 8.23 X Nucleus;Membrane NA 4 PE2 NX_Q5JRX3 117413 1037 6.45 10 Mitochondrion matrix;Mitochondrion NA 0 PE1 NX_Q5JS13 62133 557 9.21 9 Cytoplasm;Cell membrane NA 0 PE1 NX_Q5JS37 38283 347 5.98 13 Secreted NA 0 PE1 NX_Q5JS54 13775 123 6.04 6 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 NX_Q5JSH3 101366 913 5.29 X Endosome membrane;Cytosol;Perinuclear region;trans-Golgi network;Golgi apparatus NA 0 PE1 NX_Q5JSJ4 96673 861 8.89 X Mitochondrion;Centrosome NA 0 PE1 NX_Q5JSL3 237671 2073 7.87 X Nucleolus;Nucleus membrane NA 0 PE1 NX_Q5JSP0 79401 725 5.78 9 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q5JSQ8 14546 128 5.41 6 NA NA 0 PE5 NX_Q5JSS6 10795 88 9.14 10 NA NA 0 PE1 NX_Q5JST6 87397 749 7.14 X NA NA 0 PE1 NX_Q5JSZ5 242967 2229 8.55 9 Cytosol;Nucleus NA 0 PE1 NX_Q5JT25 25038 222 5.14 X Cytoplasm NA 0 PE1 NX_Q5JT78 10987 98 7.65 1 NA NA 0 PE4 NX_Q5JT82 42577 389 6.27 1 Nucleus NA 0 PE1 NX_Q5JTB6 10309 97 4.8 10 Secreted NA 0 PE1 NX_Q5JTC6 124029 1135 4.77 X Cytoplasmic vesicle;Cytoplasm;Nucleus;Cell membrane Osteopathia striata with cranial sclerosis 0 PE1 NX_Q5JTD0 61821 557 5.67 6 Tight junction;Golgi apparatus NA 0 PE1 NX_Q5JTD7 33409 316 4.73 6 Cytosol NA 0 PE1 NX_Q5JTH9 143702 1297 8.97 10 Nucleolus;Nucleus membrane NA 1 PE1 NX_Q5JTJ3 14116 125 8.54 1 Mitochondrion;Mitochondrion intermembrane space Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 0 PE1 NX_Q5JTN6 34312 314 8.89 9 NA NA 0 PE1 NX_Q5JTV8 66248 583 8.22 1 Nucleus inner membrane;Nucleus membrane Limb-girdle muscular dystrophy 2Y 1 PE1 NX_Q5JTW2 76396 689 8.47 9 Centriole;Centrosome;Cilium basal body Cone-rod dystrophy and hearing loss 0 PE1 NX_Q5JTY5 44038 395 4.76 9 NA NA 0 PE2 NX_Q5JTZ5 26314 239 8.94 9 Nucleus NA 0 PE1 NX_Q5JTZ9 107340 985 5.87 6 Mitochondrion Leukoencephalopathy, progressive, with ovarian failure;Combined oxidative phosphorylation deficiency 8 0 PE1 NX_Q5JU00 55632 501 6.31 6 Cytoplasmic vesicle;Flagellum axoneme;Flagellum NA 0 PE1 NX_Q5JU67 60533 520 8.88 9 Cytosol;Cell membrane;Cilium basal body NA 0 PE1 NX_Q5JU69 35714 321 8.13 9 Endoplasmic reticulum lumen NA 0 PE1 NX_Q5JU85 162784 1488 8.78 X Cytoplasmic vesicle;Cytoplasm Mental retardation, X-linked 1 0 PE1 NX_Q5JUK2 34526 328 5.27 9 Nucleus speckle;Nucleus;Cytoplasm Ovarian dysgenesis 5 0 PE1 NX_Q5JUK3 138343 1230 7.48 9 Cell membrane Epileptic encephalopathy, early infantile, 14;Epilepsy, nocturnal frontal lobe, 5 6 PE1 NX_Q5JUK9 12480 113 4.61 X NA NA 0 PE1 NX_Q5JUQ0 31968 283 8.22 9 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q5JUR7 25585 227 8.9 13 NA NA 0 PE1 NX_Q5JUW0 20100 171 5.54 X NA NA 0 PE1 NX_Q5JUX0 29207 258 6.31 X Nucleoplasm NA 0 PE1 NX_Q5JV73 199209 1810 8.44 X NA NA 0 PE1 NX_Q5JVF3 46030 399 8.78 13 Nucleolus;Nucleus NA 0 PE1 NX_Q5JVG2 98221 852 8.68 9 Nucleoplasm;Cytosol;Nucleus;Nucleus membrane NA 0 PE1 NX_Q5JVG8 51537 444 9.42 19 Nucleus NA 0 PE1 NX_Q5JVL4 73990 640 5.82 6 Cytosol;Spindle;Spindle pole;Cell membrane;Centrosome Juvenile myoclonic epilepsy 1;Juvenile absence epilepsy 1 0 PE1 NX_Q5JVS0 45785 413 6.97 9 Nucleus speckle;Nucleolus;Cajal body;Stress granule;Cytoplasm;Nuclear body;Sarcoplasm;Nucleus;Gem NA 0 PE1 NX_Q5JVX7 46135 400 9.7 1 NA NA 0 PE2 NX_Q5JW98 35060 314 6.44 6 Membrane NA 4 PE1 NX_Q5JWF2 111025 1037 4.91 20 Apical cell membrane;Cell membrane Pseudohypoparathyroidism 1B;Pseudohypoparathyroidism 1C;ACTH-independent macronodular adrenal hyperplasia 1;GNAS hyperfunction 0 PE1 NX_Q5JWF8 26751 245 9.5 20 NA NA 0 PE1 NX_Q5JWR5 277355 2465 5.88 6 Cytoplasmic vesicle;Nucleus;Golgi apparatus membrane NA 0 PE1 NX_Q5JX69 19499 171 9.08 20 Membrane NA 1 PE1 NX_Q5JX71 19603 171 9.51 20 Membrane NA 1 PE1 NX_Q5JXA9 36968 342 5.47 20 Nucleus;Membrane NA 1 PE1 NX_Q5JXB2 17377 153 5.66 X NA NA 0 PE1 NX_Q5JXC2 42824 388 8.68 1 Cytosol;Nucleoplasm NA 0 PE1 NX_Q5JXM2 41330 366 9.41 6 Secreted NA 0 PE2 NX_Q5JXX5 47728 417 8.5 X Perikaryon;Synapse;Postsynaptic cell membrane;Cell membrane;Dendrite NA 3 PE2 NX_Q5JXX7 19813 168 6.09 X Nucleolus;Membrane NA 2 PE1 NX_Q5JY77 156865 1395 4.64 X Cytosol;Cytoplasm NA 0 PE1 NX_Q5JYT7 130846 1200 5.97 20 Cytoplasmic vesicle;Nucleolus;Golgi apparatus NA 0 PE1 NX_Q5JZY3 109716 1008 6.52 1 Cell membrane;Secreted NA 1 PE1 NX_Q5K130 10963 101 9.55 12 NA NA 0 PE5 NX_Q5K131 14228 121 9.08 12 Cytoplasm NA 0 PE2 NX_Q5K4E3 91955 855 5.41 16 Extracellular matrix NA 0 PE1 NX_Q5K4L6 78644 730 7.25 1 Endoplasmic reticulum;Mitochondrion membrane NA 2 PE1 NX_Q5K651 184281 1589 7.98 7 Cytosol;Cytoplasm;Cytoplasmic vesicle Tumoral calcinosis, normophosphatemic, familial;MIRAGE syndrome 0 PE1 NX_Q5KSL6 141829 1271 5.36 X Cytoplasm;Membrane NA 0 PE1 NX_Q5KU26 81515 742 5.48 18 Cytoplasmic vesicle;Cell junction;Golgi apparatus;Membrane NA 1 PE1 NX_Q5M775 118585 1068 6.29 17 Nucleus;Membrane NA 0 PE1 NX_Q5M7Z0 49710 435 8.85 17 Endoplasmic reticulum membrane;Nucleolus NA 6 PE1 NX_Q5M8T2 44183 416 6.94 6 Membrane;Microtubule organizing center NA 10 PE1 NX_Q5M9N0 127140 1113 6.08 4 NA NA 0 PE1 NX_Q5M9Q1 46312 402 9.73 6 Nucleus NA 0 PE2 NX_Q5MAI5 43384 379 9 2 Cytoplasm NA 0 PE2 NX_Q5MCW4 79583 686 8.97 19 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q5MIZ7 97458 849 4.87 2 Nucleoplasm;Cytoplasm;Nucleus;Centrosome;Nucleus speckle NA 0 PE1 NX_Q5MJ07 8277 72 8.6 X NA NA 0 PE2 NX_Q5MJ08 11168 99 9.25 X NA NA 0 PE1 NX_Q5MJ09 15595 141 4.22 X NA NA 0 PE1 NX_Q5MJ10 19917 180 3.86 X NA NA 0 PE1 NX_Q5MJ68 33166 293 8.4 11 Cytoplasm NA 0 PE1 NX_Q5MJ70 36463 313 9.07 2 Nucleoplasm;Nucleus NA 0 PE1 NX_Q5MNV8 51968 452 8.69 17 NA NA 0 PE2 NX_Q5MNZ6 38122 344 7.53 17 Cytosol;Preautophagosomal structure;Nucleus;Golgi apparatus;Lysosome Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 0 PE1 NX_Q5MNZ9 48673 446 6.14 17 Endosome;Preautophagosomal structure membrane;Clathrin-coated vesicle;Cytoskeleton;trans-Golgi network NA 0 PE1 NX_Q5MY95 53904 495 5.19 9 Nucleoplasm;Cytoplasmic vesicle;Cytosol;Cell membrane NA 2 PE1 NX_Q5NDL2 62011 527 6.58 3 Nucleoplasm;Cytosol;Endoplasmic reticulum lumen;Nucleus membrane Adams-Oliver syndrome 4 0 PE1 NX_Q5NE16 25059 218 6.64 9 NA NA 0 PE5 NX_Q5NUL3 42241 377 9.52 10 Cell membrane NA 7 PE1 NX_Q5PR19 24634 223 10.47 9 NA NA 0 PE2 NX_Q5PRF9 75483 694 6.37 19 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q5PSV4 37629 323 5.04 14 Nucleoplasm;Nucleus NA 0 PE1 NX_Q5PT55 48871 438 9.02 8 Cell membrane;Membrane NA 9 PE2 NX_Q5QFB9 12196 102 9.78 9 Endoplasmic reticulum membrane NA 2 PE5 NX_Q5QGS0 167551 1516 6.03 X Nucleoplasm;Cytoplasm;Nucleus;Midbody Mental retardation, X-linked 98 0 PE1 NX_Q5QGT7 26068 225 5.63 3 Cell membrane NA 1 PE1 NX_Q5QGZ9 30762 265 8.87 12 Cell membrane NA 1 PE1 NX_Q5QJ38 99275 904 4.62 1 Nucleolus;Nucleus membrane NA 0 PE1 NX_Q5QJ74 48195 424 5.23 11 Cytosol;Cytoskeleton NA 0 PE1 NX_Q5QJE6 84469 756 5.86 1 Nucleolus;Nucleus NA 0 PE1 NX_Q5QJU3 31309 275 7.87 9 Golgi apparatus membrane NA 7 PE1 NX_Q5QNW6 13920 126 10.31 1 Nucleus;Chromosome NA 0 PE1 NX_Q5QP82 60582 559 7.3 9 Nucleolus NA 0 PE1 NX_Q5R372 92513 815 5.18 1 Cytoplasmic vesicle;Cytosol;Nucleolus;Golgi apparatus;Early endosome Leukemia, acute myelogenous 0 PE1 NX_Q5R387 16844 149 8.89 1 Secreted NA 0 PE3 NX_Q5R3F8 89687 820 7.56 22 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 1 PE1 NX_Q5R3I4 52787 469 5.61 22 Cytosol NA 0 PE1 NX_Q5R3K3 34458 315 8.87 6 Membrane NA 4 PE1 NX_Q5RGS3 14779 127 10.5 9 Membrane NA 1 PE1 NX_Q5RHP9 168466 1530 4.84 1 NA NA 0 PE1 NX_Q5RI15 13291 118 9 1 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex IV deficiency 2 PE1 NX_Q5RIA9 44068 395 4.76 9 Cytoplasm;Nucleus NA 0 PE2 NX_Q5RKV6 28235 272 6.06 16 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q5RL73 41808 367 8.92 7 Nucleoplasm;Nucleus NA 0 PE1 NX_Q5S007 286103 2527 6.35 12 Axon;Synaptic vesicle membrane;Perikaryon;Golgi apparatus;Lysosome;Cytoplasm;Mitochondrion matrix;Endosome;Endoplasmic reticulum;Mitochondrion outer membrane;Cytoplasmic vesicle;Dendrite;Mitochondrion inner membrane;Membrane;Mitochondrion;Nucleus Parkinson disease 8 0 PE1 NX_Q5SGD2 41053 360 5.58 3 Cytosol;Nucleoplasm;Membrane NA 1 PE1 NX_Q5SNT2 72236 666 9.42 1 Nucleus inner membrane;Nucleus;Spindle pole;Nucleus membrane NA 5 PE1 NX_Q5SNV9 162423 1468 10.71 1 NA NA 0 PE2 NX_Q5SQ64 32465 297 8.91 6 Cell membrane NA 1 PE1 NX_Q5SQ80 94087 823 8.12 9 NA NA 0 PE4 NX_Q5SQH8 35794 315 8.99 6 NA NA 0 PE1 NX_Q5SQI0 46810 421 9.97 6 Golgi apparatus;Cytosol;Cytoplasm;Clathrin-coated pit;Axon;Focal adhesion;Spindle;Cytoskeleton NA 0 PE1 NX_Q5SQN1 52562 464 8.87 1 Cytosol;Perinuclear region;Endomembrane system NA 0 PE1 NX_Q5SQQ9 34713 334 9.47 10 Nucleolus;Nucleus Microphthalmia, syndromic, 11 0 PE1 NX_Q5SQS7 51232 431 5.87 10 NA NA 0 PE2 NX_Q5SQS8 39268 335 9.5 10 NA NA 0 PE1 NX_Q5SR53 18168 167 9.65 1 NA NA 0 PE5 NX_Q5SR56 54545 506 5.16 9 Cytosol;Nucleoplasm;Membrane NA 12 PE1 NX_Q5SRD0 33372 308 5.2 10 NA NA 0 PE3 NX_Q5SRD1 28048 257 9.47 10 Mitochondrion inner membrane NA 2 PE5 NX_Q5SRE5 196043 1749 6.27 9 Nuclear pore complex;Nucleus NA 0 PE1 NX_Q5SRE7 32411 291 5.88 9 Nucleus speckle NA 0 PE1 NX_Q5SRH9 69778 613 7.25 1 Centrosome NA 0 PE1 NX_Q5SRI9 53671 462 9.14 6 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q5SRN2 61626 563 9.28 6 Membrane NA 2 PE1 NX_Q5SRR4 16650 150 8.04 6 Cytosol;Nucleoplasm;Secreted NA 0 PE1 NX_Q5SSG8 54228 566 4.8 6 Cell membrane NA 1 PE1 NX_Q5SSJ5 61207 553 9.69 1 Nucleus speckle;Nucleus;Chromosome NA 0 PE1 NX_Q5SSQ6 16650 148 7.88 6 Cytoplasmic vesicle;Cell junction NA 0 PE2 NX_Q5ST30 118490 1063 6.56 6 Mitochondrion Combined oxidative phosphorylation deficiency 20 0 PE1 NX_Q5SV17 19908 173 7.71 1 Synapse;Cell membrane Spinocerebellar ataxia 21 2 PE1 NX_Q5SV97 81351 790 5.4 1 Cytoplasm;Nucleus NA 0 PE1 NX_Q5SVJ3 17617 147 9.64 1 NA NA 0 PE1 NX_Q5SVQ8 105192 909 8.17 1 Cytosol;Nucleus;Nucleus membrane NA 0 PE1 NX_Q5SVS4 32475 291 9.49 13 Nucleoplasm;Mitochondrion inner membrane NA 6 PE1 NX_Q5SVZ6 128717 1142 7.51 1 Nucleus;Microtubule organizing center NA 0 PE1 NX_Q5SW24 82700 774 9.09 6 NA NA 0 PE2 NX_Q5SW79 175293 1584 6.64 1 Centriole;Spindle NA 0 PE1 NX_Q5SW96 33885 308 6.25 1 Cytoplasm;Cytoskeleton Hypercholesterolemia, autosomal recessive 0 PE1 NX_Q5SWA1 79152 713 4.59 1 Golgi apparatus Microcephaly, short stature, and impaired glucose metabolism 2 0 PE1 NX_Q5SWH9 27551 247 9.98 1 Nucleoplasm;Membrane NA 5 PE1 NX_Q5SWL7 49433 426 8.7 1 NA NA 0 PE3 NX_Q5SWL8 55208 479 7.99 1 NA NA 0 PE3 NX_Q5SWW7 16057 151 6.95 10 Nucleus NA 0 PE1 NX_Q5SWX8 51103 454 5.62 1 Nucleoplasm;Cell membrane;Membrane NA 2 PE1 NX_Q5SXH7 51763 462 5.55 10 Centrosome NA 0 PE1 NX_Q5SXM1 61411 525 9.36 1 Mitochondrion;Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q5SXM2 159433 1469 8.51 9 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_Q5SXM8 19204 178 9.88 9 Nucleoplasm;Mitochondrion NA 0 PE1 NX_Q5SY13 6588 56 10.35 9 NA NA 0 PE5 NX_Q5SY16 79323 702 9.3 1 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_Q5SY68 11302 101 4.99 1 NA NA 0 PE1 NX_Q5SY80 109662 951 6.86 1 Flagellum membrane NA 1 PE1 NX_Q5SY85 16478 155 9.12 9 NA NA 0 PE4 NX_Q5SYB0 173437 1578 5.14 9 Cytosol;Cell membrane NA 0 PE1 NX_Q5SYC1 38000 327 5.8 6 trans-Golgi network membrane;Early endosome membrane;Clathrin-coated vesicle NA 0 PE1 NX_Q5SYE7 170668 1610 6.52 6 Nucleoplasm;Nucleus membrane NA 0 PE1 NX_Q5SZB4 47639 431 10.38 9 NA NA 0 PE2 NX_Q5SZD1 26754 244 8.14 6 Nucleus membrane NA 0 PE1 NX_Q5SZD4 32704 288 9.06 6 NA NA 0 PE1 NX_Q5SZI1 28581 272 5.45 1 Membrane NA 1 PE1 NX_Q5SZJ8 31222 279 8.54 6 Nucleus;Cell membrane NA 0 PE1 NX_Q5SZK8 351157 3169 4.89 13 Cytosol;Cell membrane Fraser syndrome 2 1 PE1 NX_Q5SZL2 91808 805 5.98 6 Centrosome NA 0 PE1 NX_Q5SZQ8 50548 465 8.74 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q5T011 378029 3432 5.85 1 Nucleoplasm;Cytoplasmic vesicle;Cytoskeleton;Lysosome membrane;Peroxisome Epileptic encephalopathy, early infantile, 18 0 PE1 NX_Q5T013 30406 277 5.36 1 Cytosol;Golgi apparatus;Cell membrane NA 0 PE1 NX_Q5T035 20715 196 6.78 9 Mitochondrion NA 0 PE4 NX_Q5T036 27929 256 11.93 9 NA NA 0 PE2 NX_Q5T089 53850 497 6.64 1 Mitochondrion;Nucleus NA 0 PE1 NX_Q5T0B9 45814 420 9.7 1 Nucleolus;Nucleus NA 0 PE1 NX_Q5T0D9 30212 272 6.85 1 Cytoplasmic vesicle;Cytosol;Synaptic vesicle membrane NA 0 PE1 NX_Q5T0F9 94224 858 5.18 1 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q5T0J3 15074 134 9.92 1 NA NA 0 PE2 NX_Q5T0J7 26518 233 9.22 1 Cytoskeleton NA 0 PE1 NX_Q5T0L3 29150 261 7.48 1 Nucleus membrane NA 0 PE1 NX_Q5T0N1 125721 1121 5.57 10 Cilium NA 0 PE1 NX_Q5T0N5 70065 605 6.2 1 Cytosol;Cytoplasm;Cell cortex;Cell membrane;Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 NX_Q5T0T0 32965 291 8.1 10 Early endosome membrane;Lysosome membrane;Cytoplasmic vesicle membrane NA 2 PE1 NX_Q5T0U0 32206 273 6.54 13 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q5T0W9 114799 1011 9.04 6 Cytoplasm;Membrane NA 0 PE1 NX_Q5T0Z8 124034 1188 9.48 6 Cytosol;Golgi apparatus NA 0 PE1 NX_Q5T124 57373 520 5.06 1 Cytosol;Cytoskeleton;Nucleolus NA 0 PE1 NX_Q5T160 65505 578 8.41 6 Mitochondrion matrix;Cytosol;Nucleus Pontocerebellar hypoplasia 6 0 PE1 NX_Q5T197 80712 706 9.28 1 Cell membrane NA 6 PE1 NX_Q5T1A1 86230 773 8.51 1 Membrane NA 6 PE1 NX_Q5T1B0 118027 1012 5.49 1 NA NA 0 PE1 NX_Q5T1B1 15403 145 6.9 10 NA NA 0 PE2 NX_Q5T1C6 27130 240 8.58 1 Cytoplasm;Cell membrane;Mitochondrion inner membrane;Ruffle membrane;Mitochondrion intermembrane space;Mitochondrion NA 0 PE1 NX_Q5T1H1 350796 3165 5.5 6 Secreted Retinitis pigmentosa 25 0 PE1 NX_Q5T1J5 15490 151 9.95 9 Mitochondrion NA 0 PE5 NX_Q5T1J6 17173 154 6.49 20 NA NA 0 PE2 NX_Q5T1M5 133630 1219 5.11 9 Cytosol;Axon;Nucleolus;Early endosome;Cytoplasm NA 0 PE1 NX_Q5T1N1 92864 836 6.36 1 NA NA 0 PE2 NX_Q5T1Q4 45346 408 7.04 6 Cytosol;Nucleoplasm;Membrane;Microtubule organizing center NA 10 PE1 NX_Q5T1R4 259465 2406 7.85 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q5T1S8 11082 102 9.86 1 Cell membrane NA 1 PE2 NX_Q5T1V6 68810 619 7.18 1 Cytoplasm;Cytoskeleton;Nucleus Orofaciodigital syndrome 5 0 PE1 NX_Q5T200 196635 1668 9.45 13 Nucleoplasm;Nucleus speckle;Cytoskeleton;Nucleus membrane NA 0 PE1 NX_Q5T215 20566 181 8.11 6 cis-Golgi network;Endoplasmic reticulum NA 0 PE1 NX_Q5T230 36439 341 10.9 10 Nucleus NA 0 PE1 NX_Q5T280 42009 376 7.11 9 Kinetochore;Spindle;Nucleolus;Nucleus;Centrosome NA 0 PE1 NX_Q5T292 11325 105 9.58 10 Membrane NA 1 PE1 NX_Q5T2D2 35127 321 9.68 6 Cell membrane NA 1 PE1 NX_Q5T2D3 45124 398 8.47 1 Cytosol;Nucleoplasm;Cytoskeleton NA 0 PE1 NX_Q5T2E6 78710 689 6.13 10 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q5T2L2 14588 129 5.92 10 Cytoplasm NA 0 PE5 NX_Q5T2N8 46380 411 9.37 1 NA NA 0 PE1 NX_Q5T2Q4 41278 361 6.17 10 NA NA 0 PE3 NX_Q5T2R2 46261 415 9.17 10 Cytosol;Mitochondrion Coenzyme Q10 deficiency, primary, 2 0 PE1 NX_Q5T2S8 115679 1044 7.98 10 Cilium axoneme;Cilium basal body Ciliary dyskinesia, primary, 23 0 PE1 NX_Q5T2T1 65524 576 6.65 10 Adherens junction;Cell junction;Tight junction;Membrane NA 0 PE1 NX_Q5T2W1 57129 519 5.36 1 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Membrane NA 0 PE1 NX_Q5T319 15775 152 6.04 20 NA NA 0 PE2 NX_Q5T3F8 94958 832 7.23 6 Cytoskeleton;Cell membrane;Membrane NA 10 PE1 NX_Q5T3I0 50381 446 9.64 1 Nucleolus;Nucleus NA 0 PE1 NX_Q5T3J3 84568 769 9.72 1 Nucleus;Nucleus matrix;Chromosome;Microtubule organizing center NA 0 PE1 NX_Q5T3U5 161629 1492 6.64 6 Cell membrane NA 17 PE1 NX_Q5T3Y7 11178 98 9.18 6 NA NA 0 PE5 NX_Q5T440 38155 356 9.88 1 Mitochondrion Spastic paraplegia 74, autosomal recessive;Multiple mitochondrial dysfunctions syndrome 3 0 PE1 NX_Q5T442 47002 439 7.56 1 Gap junction;Cell membrane Spastic paraplegia 44, autosomal recessive;Leukodystrophy, hypomyelinating, 2;Lymphedema, hereditary, 1C 4 PE1 NX_Q5T447 97113 861 5.47 1 Perinuclear region NA 0 PE1 NX_Q5T481 134357 1227 5.48 10 Cytoskeleton;Nucleolus;Nucleus;Golgi apparatus Cardiomyopathy, dilated 1DD 0 PE1 NX_Q5T4B2 67592 595 5.7 9 Endoplasmic reticulum lumen;Nucleus;Cell junction;Nucleolus NA 0 PE1 NX_Q5T4D3 82991 741 9.11 13 Cytoplasmic vesicle;Membrane NA 12 PE1 NX_Q5T4F4 45843 411 5.09 10 Cytosol;Endoplasmic reticulum membrane;Nucleoplasm;Recycling endosome membrane;Growth cone membrane Spastic paraplegia 33, autosomal dominant 2 PE1 NX_Q5T4F7 35563 317 8.88 10 Secreted NA 0 PE1 NX_Q5T4H9 14851 136 11.17 10 Nucleoplasm NA 0 PE2 NX_Q5T4I8 17383 152 4.52 6 Nucleus speckle NA 0 PE2 NX_Q5T4S7 573841 5183 5.7 1 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Membrane;Cytoskeleton;Centrosome NA 2 PE1 NX_Q5T4T1 14360 132 10.4 6 Centrosome;Cell membrane NA 3 PE1 NX_Q5T4T6 93599 812 5.57 6 Nucleoplasm;Centromere;Nucleus NA 0 PE1 NX_Q5T4W7 22878 220 11.7 1 Secreted NA 0 PE1 NX_Q5T5A4 19350 169 9.27 1 Cytosol;Nucleus speckle NA 0 PE1 NX_Q5T5A8 9729 94 8.73 1 NA NA 0 PE1 NX_Q5T5B0 9507 92 9.07 1 NA NA 0 PE1 NX_Q5T5C0 127573 1151 6.96 6 Synapse;Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle membrane;Synaptic vesicle NA 0 PE1 NX_Q5T5D7 43945 378 9.06 1 Cytosol;Nucleus NA 0 PE1 NX_Q5T5F5 14090 129 11.14 1 NA NA 0 PE2 NX_Q5T5J6 103222 900 8.98 1 Cytosol NA 0 PE1 NX_Q5T5M9 42581 372 6.75 10 Nucleoplasm;Golgi apparatus NA 0 PE2 NX_Q5T5N4 53772 469 8.61 6 Mitochondrion NA 0 PE2 NX_Q5T5P2 214116 1943 6.59 10 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q5T5S1 62689 534 8.93 9 NA NA 0 PE1 NX_Q5T5U3 217331 1957 7.85 10 Cytoskeleton;Cytoplasmic vesicle membrane;Golgi apparatus membrane;Cell junction;Cell membrane NA 0 PE1 NX_Q5T5X7 94475 828 5.29 6 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q5T5Y3 177972 1602 6.28 9 Cytosol;Cytoskeleton;Spindle NA 0 PE1 NX_Q5T601 101365 910 8.91 6 Cell membrane;Secreted NA 7 PE1 NX_Q5T619 62341 568 8.97 1 Nucleus NA 0 PE1 NX_Q5T653 33301 305 11.29 6 Nucleoplasm;Mitochondrion NA 0 PE1 NX_Q5T655 103417 872 8.44 10 Nucleus;Cilium NA 0 PE1 NX_Q5T681 25128 223 7.08 10 NA NA 0 PE1 NX_Q5T686 16773 147 10.84 10 Nucleus;Cell membrane NA 0 PE1 NX_Q5T699 46784 404 8.77 6 NA NA 0 PE5 NX_Q5T6C5 77181 722 9.4 1 Cytoplasmic vesicle;Cytosol;Nucleolus NA 0 PE1 NX_Q5T6F0 50517 453 9.23 9 Cytoplasm;Centrosome NA 0 PE1 NX_Q5T6F2 117116 1119 6.89 9 Cytosol NA 0 PE1 NX_Q5T6J7 20578 187 5.84 9 Mitochondrion;Cytosol NA 0 PE1 NX_Q5T6L9 77788 678 6.28 6 Cytosol;Endoplasmic reticulum membrane Periventricular nodular heterotopia 6 2 PE1 NX_Q5T6M2 23040 205 11.95 6 NA NA 0 PE5 NX_Q5T6R2 15541 138 6.89 13 NA NA 0 PE5 NX_Q5T6S3 65591 580 9.08 9 Nucleus NA 0 PE1 NX_Q5T6V5 39029 341 5.61 9 Golgi apparatus NA 0 PE1 NX_Q5T6X4 17685 162 10.77 6 Membrane NA 1 PE1 NX_Q5T6X5 104753 926 8.29 6 Cell membrane NA 7 PE1 NX_Q5T700 21834 205 5.33 1 Nucleoplasm;Golgi apparatus;Membrane NA 1 PE1 NX_Q5T742 14441 122 10.26 10 Secreted NA 0 PE2 NX_Q5T749 64136 579 8.72 1 Cytoplasm NA 0 PE1 NX_Q5T750 26238 250 8.41 1 NA NA 0 PE1 NX_Q5T751 11543 118 8.83 1 NA NA 0 PE2 NX_Q5T752 11230 114 8.82 1 NA NA 0 PE1 NX_Q5T753 11616 118 8.71 1 NA NA 0 PE1 NX_Q5T754 11654 118 8.83 1 NA NA 0 PE1 NX_Q5T764 54993 474 7.62 10 NA NA 0 PE1 NX_Q5T7B8 151903 1368 6.69 9 Centriole NA 0 PE1 NX_Q5T7M4 32416 302 9.41 1 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q5T7M9 49024 428 6.92 1 Endoplasmic reticulum membrane;Cytosol;Nucleus NA 1 PE1 NX_Q5T7N2 98850 865 4.87 1 NA NA 0 PE1 NX_Q5T7N3 107342 995 5.15 1 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q5T7N8 24905 215 11.93 9 NA NA 0 PE3 NX_Q5T7P2 10982 110 8.84 1 NA NA 0 PE1 NX_Q5T7P3 11626 118 8.83 1 NA NA 0 PE1 NX_Q5T7P6 15193 136 4.87 1 Membrane NA 2 PE2 NX_Q5T7P8 57325 510 8.47 1 Cytoplasmic vesicle;Cytosol;Synaptic vesicle membrane;Cell membrane;Membrane NA 1 PE1 NX_Q5T7R7 22411 199 7.67 1 Membrane NA 1 PE1 NX_Q5T7V8 44993 394 6.66 1 Cytosol;Cytoplasm;Nucleus;Golgi apparatus Geroderma osteodysplasticum 0 PE1 NX_Q5T7W0 104956 954 6.7 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q5T7W7 58263 516 6.89 9 Nucleoplasm NA 0 PE1 NX_Q5T848 135489 1215 8.57 10 Cytosol;Cell membrane NA 7 PE1 NX_Q5T870 12904 116 4.96 1 NA NA 0 PE1 NX_Q5T871 10697 98 8.44 1 NA NA 0 PE1 NX_Q5T890 177127 1561 8.83 9 Mitochondrion;Cytosol;Nucleus;Centrosome;Nucleoplasm Bone marrow failure syndrome 2 0 PE1 NX_Q5T8A7 127351 1209 8.84 9 Nucleoplasm;Nucleolus NA 0 PE1 NX_Q5T8D3 60092 534 5.19 10 Peroxisome membrane;Peroxisome NA 1 PE1 NX_Q5T8I3 39308 360 6.62 1 Cytosol;Nucleolus NA 0 PE1 NX_Q5T8I9 44525 393 5.16 1 Cytoplasm;Focal adhesion;Cell membrane NA 0 PE1 NX_Q5T8P6 113597 1007 9.21 13 Nucleus speckle NA 0 PE1 NX_Q5T8R8 31184 295 11.77 9 NA NA 0 PE1 NX_Q5T953 42109 404 6.45 9 Nucleus NA 0 PE1 NX_Q5T9A4 72573 648 9.3 1 Mitochondrion inner membrane NA 0 PE1 NX_Q5T9C2 41785 384 8.83 9 Cytosol NA 0 PE1 NX_Q5T9C9 44572 394 9.63 9 Cytosol;Cytoplasm;Membrane NA 0 PE1 NX_Q5T9G4 38632 340 8.02 6 Nucleoplasm;Cell membrane NA 0 PE1 NX_Q5T9L3 62253 541 6.98 1 Endoplasmic reticulum membrane;Cytoplasmic vesicle membrane;Early endosome membrane;Golgi apparatus membrane;Cell membrane NA 7 PE1 NX_Q5T9S5 168962 1454 5.52 1 Cytosol;Nucleoplasm NA 0 PE1 NX_Q5T9Z0 31315 273 8.02 1 Membrane NA 6 PE2 NX_Q5TA31 26190 235 5.7 1 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q5TA45 67663 600 8.27 1 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q5TA50 24365 214 6.71 1 Cytosol;Endosome membrane;trans-Golgi network membrane;Cell membrane;Nucleus outer membrane NA 0 PE1 NX_Q5TA76 9146 89 8.81 1 NA NA 0 PE1 NX_Q5TA77 9812 95 8.57 1 NA NA 0 PE1 NX_Q5TA78 9980 99 8.64 1 NA NA 0 PE1 NX_Q5TA79 10846 106 8.32 1 NA NA 0 PE1 NX_Q5TA81 11224 110 8.56 1 NA NA 0 PE1 NX_Q5TA82 11180 110 8.54 1 NA NA 0 PE1 NX_Q5TA89 18226 166 9.52 1 Cytosol;Nucleoplasm;Nucleus;Nucleus speckle NA 0 PE2 NX_Q5TAA0 63361 569 5.29 1 NA NA 0 PE1 NX_Q5TAB7 13906 128 4.42 6 Nucleus Spondylocostal dysostosis 6, autosomal recessive 0 PE1 NX_Q5TAG4 167689 1457 4.75 1 Cytoplasm NA 0 PE2 NX_Q5TAH2 129053 1124 6.5 1 Membrane NA 15 PE1 NX_Q5TAP6 87188 766 6.7 13 Nucleolus NA 0 PE1 NX_Q5TAQ9 66852 597 5.21 1 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Giant axonal neuropathy 2, autosomal dominant 0 PE1 NX_Q5TAT6 69950 717 9.27 10 Postsynaptic cell membrane;Cell membrane Myasthenic syndrome, congenital, 19 1 PE1 NX_Q5TAX3 185166 1644 8.3 1 Cytosol;Cytoplasm;Cytoplasmic ribonucleoprotein granule;Nucleolus;Nucleus NA 0 PE1 NX_Q5TB30 92960 811 8.91 1 Nucleolus;Nucleus NA 0 PE1 NX_Q5TB80 161943 1403 5.36 6 Centriole;Cytosol;Spindle;Nucleus;Cell membrane NA 0 PE1 NX_Q5TBA9 338875 3013 5.66 13 Cytoplasm;Centrosome;Spindle pole NA 0 PE1 NX_Q5TBB1 35139 312 9.19 13 Nucleus Aicardi-Goutieres syndrome 2 0 PE1 NX_Q5TBC7 17725 163 4.33 1 NA NA 0 PE1 NX_Q5TBE3 11254 101 9.26 9 NA NA 0 PE1 NX_Q5TBK1 28981 243 10.07 13 Cytosol;Nucleoplasm NA 0 PE1 NX_Q5TC04 10240 95 6.05 1 NA NA 0 PE5 NX_Q5TC12 36437 328 8.12 1 Mitochondrion NA 0 PE1 NX_Q5TC63 38554 336 9 13 NA NA 0 PE1 NX_Q5TC79 56055 503 6.3 1 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q5TC82 125736 1133 6.86 1 Cytosol;Cytoplasmic granule;P-body;Cell membrane NA 0 PE1 NX_Q5TC84 51252 451 5.81 6 Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q5TCH4 59246 519 9.21 1 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_Q5TCM9 11795 118 8.75 1 NA NA 0 PE1 NX_Q5TCQ9 162949 1481 8.26 1 Nucleus;Tight junction;Cell membrane;Cell junction NA 0 PE1 NX_Q5TCS8 221413 1911 4.96 6 Nucleoplasm;Cytoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_Q5TCX8 113957 1036 8.97 1 Cytosol;Cell membrane NA 0 PE1 NX_Q5TCY1 142737 1321 5.46 6 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q5TCZ1 125289 1133 9.01 10 Cytoplasm;Podosome NA 0 PE1 NX_Q5TD94 80733 716 4.38 6 Nucleus;Cilium;Cilium axoneme Ciliary dyskinesia, primary, 11 0 PE1 NX_Q5TD97 32720 284 7.77 6 Nucleus NA 0 PE1 NX_Q5TDH0 44523 399 4.95 1 Cytosol;Nucleoplasm NA 0 PE1 NX_Q5TDP6 57278 509 5.96 6 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 NX_Q5TEA3 132287 1177 6.11 20 Cytosol;Nucleolus NA 0 PE1 NX_Q5TEA6 77964 688 9.25 20 Membrane NA 1 PE1 NX_Q5TEC3 60461 545 6.88 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q5TEJ8 72049 643 5.77 1 Golgi apparatus NA 0 PE1 NX_Q5TEU4 38918 345 6.14 20 Mitochondrion inner membrane Mitochondrial complex I deficiency;Leigh syndrome 0 PE1 NX_Q5TEV5 9093 83 9.72 1 Secreted NA 0 PE3 NX_Q5TEZ4 8388 76 8.84 6 NA NA 0 PE5 NX_Q5TEZ5 38553 329 6.49 6 Nucleoplasm NA 0 PE1 NX_Q5TF21 103199 947 5.81 6 Cytosol;Nucleus;Membrane NA 1 PE1 NX_Q5TF39 56218 518 5.27 6 Cytoskeleton;Apical cell membrane NA 12 PE1 NX_Q5TF58 57328 517 4.86 1 Nucleoplasm;Cell membrane NA 0 PE1 NX_Q5TFE4 51845 455 5.94 6 NA NA 0 PE1 NX_Q5TFG8 24665 222 10.32 6 NA NA 0 PE1 NX_Q5TFQ8 43359 398 7.7 20 Membrane NA 1 PE1 NX_Q5TG30 68908 622 7.7 20 Nucleoplasm;Cytosol;Centrosome;Cell membrane NA 0 PE2 NX_Q5TG53 16212 156 10.6 1 NA NA 0 PE5 NX_Q5TG92 13826 126 10.19 1 NA NA 0 PE2 NX_Q5TGI0 46843 409 5.34 6 Nucleoplasm;Membrane NA 1 PE1 NX_Q5TGI4 19231 173 9.19 6 Cytoplasmic vesicle NA 0 PE2 NX_Q5TGJ6 27234 251 4.5 6 NA NA 0 PE1 NX_Q5TGL8 26560 231 4.94 6 Cell membrane NA 0 PE1 NX_Q5TGP6 65050 573 5.94 1 NA NA 0 PE1 NX_Q5TGS1 19968 186 9.74 1 Nucleus NA 0 PE3 NX_Q5TGU0 19129 170 8.48 6 Endoplasmic reticulum membrane NA 5 PE1 NX_Q5TGY1 67910 634 5.59 1 Endoplasmic reticulum;Membrane NA 3 PE1 NX_Q5TGY3 168349 1603 9.21 1 Nucleus Mental retardation, autosomal dominant 25 0 PE1 NX_Q5TGZ0 8808 78 8.69 1 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 NX_Q5TH69 240652 2177 5.54 6 Cytoplasm;Secretory vesicle;Secretory vesicle membrane NA 1 PE1 NX_Q5TH74 36786 334 9.79 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q5THJ4 491916 4388 6.15 1 Cytoplasmic vesicle;Cytosol;Nucleoplasm NA 0 PE1 NX_Q5THK1 237300 2151 5.93 22 Nucleoplasm NA 0 PE1 NX_Q5THR3 172930 1501 8.67 22 Nucleoplasm;Nucleus NA 0 PE1 NX_Q5TI25 105853 921 4.5 1 Cytoplasm NA 0 PE2 NX_Q5TIA1 141161 1274 6.24 22 Nucleoplasm;Cell membrane NA 0 PE2 NX_Q5TID7 60103 509 5.7 1 Nucleus speckle;Cytoskeleton;Flagellum NA 0 PE1 NX_Q5TIE3 133802 1220 8.45 1 Mitochondrion;Cytosol;Cell membrane;Secreted NA 0 PE1 NX_Q5TKA1 61946 542 9.17 1 Nucleoplasm NA 0 PE1 NX_Q5TYM5 16619 149 5.54 1 Mitochondrion;Cytoplasm NA 0 PE1 NX_Q5TYW1 122274 1059 8.63 9 Nucleus NA 0 PE1 NX_Q5TYW2 94048 823 7.97 9 Cell membrane NA 0 PE2 NX_Q5TYX0 54886 476 8.53 1 NA NA 0 PE2 NX_Q5TZ20 34890 316 8.85 1 Cell membrane NA 7 PE2 NX_Q5TZA2 228523 2017 5.45 1 Centriole;Centrosome;Cell membrane;Cilium basal body NA 0 PE1 NX_Q5TZF3 29977 266 4.62 1 NA NA 0 PE1 NX_Q5TZJ5 148561 1347 9.07 9 Membrane NA 1 PE3 NX_Q5TZK3 14773 123 10.66 9 NA NA 0 PE1 NX_Q5U3C3 33508 297 8.41 X Cytoplasmic vesicle;Cell junction;Membrane NA 7 PE1 NX_Q5U4N7 28211 250 12.03 20 Mitochondrion NA 0 PE2 NX_Q5U4P2 41128 390 8.94 16 Membrane NA 1 PE1 NX_Q5U5Q3 69366 659 4.93 18 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_Q5U5R9 88122 776 8.42 10 Nucleoplasm NA 0 PE1 NX_Q5U5X0 11955 104 9.67 5 Mitochondrion matrix Mitochondrial complex III deficiency, nuclear 8 0 PE1 NX_Q5U5X8 46792 452 9.2 12 Mitochondrion;Nucleoplasm;Focal adhesion;Cell membrane NA 0 PE1 NX_Q5U5Z8 104194 902 9.14 11 Centriole;Cytosol;Cilium basal body NA 0 PE1 NX_Q5U623 75764 682 7.96 16 Nucleus NA 0 PE1 NX_Q5U649 27626 245 7.73 12 Cytosol;Nucleus NA 0 PE1 NX_Q5U651 103457 963 8.17 19 Perinuclear region;Golgi stack NA 0 PE1 NX_Q5UAW9 36623 335 9.27 1 Cilium membrane;Nucleolus;Cell junction;Cell membrane NA 7 PE1 NX_Q5UCC4 27347 262 5.78 19 Secreted;Membrane NA 1 PE1 NX_Q5UE93 84258 754 7.58 17 Cytoplasm;Cell membrane NA 0 PE1 NX_Q5UIP0 274466 2472 5.39 2 Spindle;Nucleus;Chromosome;Cell membrane;Telomere NA 0 PE1 NX_Q5VIR6 79653 699 5.74 17 Cytosol;Endosome membrane;Recycling endosome;trans-Golgi network membrane;Golgi apparatus Pontocerebellar hypoplasia 2E 0 PE1 NX_Q5VIY5 60573 522 9.1 19 Nucleus NA 0 PE1 NX_Q5VSD8 8201 79 9.82 9 NA NA 0 PE4 NX_Q5VSG8 51317 457 6.47 1 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q5VSL9 95576 837 5.92 1 Cytosol;Cytoplasm NA 0 PE1 NX_Q5VSP4 17918 162 4.93 9 Secreted NA 0 PE5 NX_Q5VSR9 8263 72 5.79 X NA NA 0 PE3 NX_Q5VST6 32215 288 5.89 9 Postsynaptic density;Recycling endosome membrane;Cell membrane;Dendritic spine NA 0 PE1 NX_Q5VST9 868484 7968 5.69 1 Cytosol;Cell membrane;Nucleus;Sarcolemma;M line;Z line NA 0 PE1 NX_Q5VSY0 42078 366 8.89 9 Cytosol;Golgi apparatus;Microtubule organizing center NA 0 PE1 NX_Q5VT03 86276 806 6.98 10 NA NA 0 PE3 NX_Q5VT06 350930 3117 5.95 1 Centriole;Spindle;Nucleus;Centrosome;Cilium basal body NA 0 PE1 NX_Q5VT25 197307 1732 6.16 1 Cytoplasm;Cytoskeleton;Lamellipodium NA 0 PE1 NX_Q5VT28 7388 67 7.82 9 NA NA 0 PE3 NX_Q5VT33 9515 79 10.54 X NA NA 0 PE4 NX_Q5VT40 29835 261 9.46 1 Cytoplasmic vesicle;Golgi apparatus NA 0 PE2 NX_Q5VT52 156020 1461 6.97 1 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 NX_Q5VT66 37499 337 9.12 1 Mitochondrion;Membrane;Mitochondrion outer membrane NA 1 PE1 NX_Q5VT79 36879 327 5.56 10 NA NA 0 PE1 NX_Q5VT97 133230 1194 8.83 1 Nucleolus;Golgi apparatus NA 0 PE1 NX_Q5VT98 54784 475 8.45 1 NA NA 0 PE3 NX_Q5VT99 32082 294 4.82 1 Cell membrane NA 1 PE1 NX_Q5VTA0 54769 474 8.41 1 NA NA 0 PE2 NX_Q5VTB9 62765 566 5.7 1 Cytoplasm NA 0 PE1 NX_Q5VTD9 37492 330 9.25 9 Nucleus Bleeding disorder, platelet-type 17 0 PE1 NX_Q5VTE0 50185 462 9.15 9 Cytoplasm NA 0 PE5 NX_Q5VTE6 62339 544 8 1 Nucleoplasm;Mitochondrion NA 0 PE1 NX_Q5VTH2 19293 177 10.09 1 Apical cell membrane;Cilium;Cilium basal body NA 0 PE1 NX_Q5VTH9 94573 848 5.53 1 NA NA 0 PE1 NX_Q5VTJ3 84479 777 7.93 1 Nucleus speckle;Membrane NA 1 PE1 NX_Q5VTL7 78236 733 5.46 1 Nucleoplasm;Cytoskeleton;Secreted NA 0 PE1 NX_Q5VTL8 64468 546 10.54 1 Nucleus NA 0 PE1 NX_Q5VTM2 77972 703 8.14 10 NA NA 0 PE2 NX_Q5VTQ0 76956 682 7.16 9 Endoplasmic reticulum NA 0 PE1 NX_Q5VTR2 113662 975 5.73 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q5VTT2 26445 229 6.75 9 Cytoplasm;Cell membrane NA 1 PE1 NX_Q5VTT5 162189 1437 5.89 1 Cytoplasmic vesicle;M line NA 0 PE1 NX_Q5VTU8 5807 51 10.15 13 Mitochondrion;Mitochondrion inner membrane NA 0 PE3 NX_Q5VTY9 57313 493 6.9 1 Endoplasmic reticulum membrane;Golgi apparatus NA 10 PE1 NX_Q5VU36 148687 1347 9 9 Membrane NA 1 PE3 NX_Q5VU43 265103 2346 5.35 1 Cytoskeleton;Centrosome;Golgi apparatus NA 0 PE1 NX_Q5VU57 58230 503 8.66 1 Cytosol;Centriole;Golgi apparatus;Cilium basal body NA 0 PE2 NX_Q5VU65 210605 1888 7.15 1 Nucleus;Membrane NA 1 PE1 NX_Q5VU69 12131 101 9.72 1 NA NA 0 PE1 NX_Q5VU92 51201 463 8.84 X NA NA 0 PE1 NX_Q5VU97 142290 1274 5.97 1 Nucleolus;Nucleus;Membrane NA 1 PE1 NX_Q5VUA4 251112 2279 6.78 6 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q5VUB5 97854 890 6.12 10 Nucleoplasm;Cell membrane;Membrane NA 1 PE1 NX_Q5VUD6 48583 431 9 9 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nucleus NA 1 PE1 NX_Q5VUE5 15483 145 9.03 1 Cytoplasmic vesicle NA 0 PE1 NX_Q5VUG0 100563 894 6.14 10 Nucleus speckle;Nucleus NA 0 PE1 NX_Q5VUJ5 73211 663 6.25 10 NA NA 0 PE5 NX_Q5VUJ6 84588 765 6.11 X Nucleolus;Cell membrane NA 0 PE1 NX_Q5VUJ9 29714 269 8.92 1 Cytosol;Flagellum axoneme;Cell membrane NA 0 PE1 NX_Q5VUM1 12213 108 9.43 6 Mitochondrion matrix;Mitochondrion;Nucleus NA 0 PE1 NX_Q5VUR7 94108 823 8.12 9 NA NA 0 PE4 NX_Q5VUY0 46155 407 7.54 1 NA NA 0 PE2 NX_Q5VUY2 46082 407 8.54 1 Membrane NA 1 PE3 NX_Q5VV11 10769 94 11.91 9 NA NA 0 PE5 NX_Q5VV16 45780 416 9.58 9 Nucleus NA 0 PE3 NX_Q5VV17 51063 481 5.68 10 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q5VV41 80105 709 6.9 1 Cytoplasm NA 0 PE1 NX_Q5VV42 65111 579 7.2 6 Cytoplasmic vesicle;Endoplasmic reticulum membrane Diabetes mellitus, non-insulin-dependent 1 PE1 NX_Q5VV43 117763 1072 5.34 6 Cytoplasmic vesicle;Early endosome membrane;Cell membrane Dyslexia 2 1 PE1 NX_Q5VV52 35810 315 7.9 1 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 NX_Q5VV63 152639 1379 7.31 10 Mitochondrion;Nucleus;Membrane NA 1 PE1 NX_Q5VV67 177544 1664 6.11 10 Nucleoplasm;Nucleus NA 0 PE1 NX_Q5VVB8 14657 128 5.82 6 Membrane NA 3 PE4 NX_Q5VVC0 20418 180 9.03 1 NA NA 0 PE2 NX_Q5VVH5 29106 260 9.07 6 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_Q5VVJ2 95032 828 5.4 1 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q5VVM6 91333 783 5.57 1 NA NA 0 PE2 NX_Q5VVP1 147818 1343 8.99 9 Membrane NA 1 PE3 NX_Q5VVQ6 38322 348 5.77 1 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane NA 0 PE1 NX_Q5VVS0 13926 124 6.89 1 NA NA 0 PE5 NX_Q5VVW2 112852 1013 7.57 9 Cytoplasmic vesicle NA 0 PE1 NX_Q5VVX9 37741 321 5.06 1 NA NA 0 PE1 NX_Q5VVY1 32400 283 6.51 1 Nucleus NA 0 PE1 NX_Q5VW00 50803 463 9.36 X NA NA 0 PE1 NX_Q5VW22 73127 663 6.41 10 NA NA 0 PE2 NX_Q5VW32 46476 411 7.55 1 Cytosol;Nucleoplasm;Golgi apparatus;Membrane NA 0 PE1 NX_Q5VW36 200072 1801 6.17 9 Mitochondrion;Focal adhesion;Membrane NA 3 PE1 NX_Q5VW38 66990 600 6.77 9 Nucleoplasm;trans-Golgi network membrane;Golgi apparatus NA 7 PE1 NX_Q5VWC8 27520 232 8.76 9 Endoplasmic reticulum membrane NA 6 PE1 NX_Q5VWG9 103582 929 9.13 10 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_Q5VWI1 65660 586 9.84 10 NA NA 0 PE2 NX_Q5VWJ9 49677 437 5.21 9 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q5VWK0 72239 638 4.84 1 Cytoplasm NA 0 PE2 NX_Q5VWK5 71722 629 5.32 1 Cell membrane Inflammatory bowel disease 17 1 PE1 NX_Q5VWM3 55334 479 8.31 1 NA NA 0 PE3 NX_Q5VWM4 53655 474 5.99 1 NA NA 0 PE2 NX_Q5VWM5 55420 478 8.82 1 NA NA 0 PE2 NX_Q5VWM6 54914 474 8.85 1 NA NA 0 PE5 NX_Q5VWN6 268843 2430 5.61 10 Cytosol;Nucleus NA 0 PE1 NX_Q5VWP2 44944 391 5.45 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q5VWP3 50429 458 5.96 6 Nucleoplasm;PML body;Nucleus;Nucleus envelope;Sarcolemma NA 0 PE1 NX_Q5VWQ0 90072 802 8.85 1 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_Q5VWQ8 131625 1189 8.92 9 Cytoplasm;Dendrite;Cell membrane;Membrane NA 0 PE1 NX_Q5VWT5 82070 728 8.58 1 Membrane raft NA 0 PE1 NX_Q5VWW1 26719 255 6.29 10 Secreted NA 0 PE1 NX_Q5VWX1 38927 349 5.94 6 Nucleus NA 0 PE1 NX_Q5VWZ2 26316 237 7.71 1 Cytosol NA 0 PE1 NX_Q5VX52 52946 459 8.93 1 NA NA 0 PE2 NX_Q5VX71 53778 490 4.78 1 Cytoplasmic vesicle;Membrane;Secreted NA 1 PE2 NX_Q5VXD3 13570 122 4.98 1 Mitochondrion NA 0 PE1 NX_Q5VXH4 54852 476 8.54 1 NA NA 0 PE2 NX_Q5VXH5 53627 474 5.99 1 NA NA 0 PE2 NX_Q5VXI9 45534 398 6.35 10 Secreted Ichthyosis, congenital, autosomal recessive 8 0 PE2 NX_Q5VXJ0 45563 399 8.39 10 Secreted NA 0 PE2 NX_Q5VXM1 48752 449 5.81 1 Secreted NA 0 PE2 NX_Q5VXT5 30156 272 5.4 1 Nucleoplasm;Membrane NA 4 PE1 NX_Q5VXU1 23831 208 4.94 6 Cytosol;Cell membrane NA 4 PE2 NX_Q5VXU3 25616 224 4.51 X Cytoplasmic vesicle;Nucleus speckle;Cytosol;Cell membrane NA 0 PE1 NX_Q5VXU9 165202 1444 5.1 9 Cytosol;Cytoplasmic vesicle;Chromosome NA 0 PE1 NX_Q5VY09 33704 327 4.91 1 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q5VY43 110666 1037 6.4 1 Nucleoplasm;Cell junction;Cell membrane;Centrosome NA 1 PE1 NX_Q5VY80 27509 246 5.96 6 Cell membrane;Endoplasmic reticulum NA 0 PE1 NX_Q5VYJ5 241008 2156 5.04 10 Cytoplasmic vesicle membrane;Golgi apparatus NA 1 PE1 NX_Q5VYK3 204291 1845 6.74 9 Endoplasmic reticulum-Golgi intermediate compartment;Endosome;Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleus;Multivesicular body;Centrosome NA 0 PE1 NX_Q5VYM1 117724 1079 7 9 Mitochondrion NA 0 PE1 NX_Q5VYP0 148706 1347 8.99 9 Membrane NA 1 PE2 NX_Q5VYS4 34190 303 6.06 13 Cytoplasm NA 0 PE1 NX_Q5VYS8 171229 1495 6.4 9 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 NX_Q5VYV0 45581 432 9.55 9 Nucleus NA 0 PE4 NX_Q5VYV7 45552 408 9.5 20 Cytosol NA 0 PE1 NX_Q5VYX0 37847 342 6.06 10 Secreted NA 0 PE1 NX_Q5VYY1 21849 191 9.07 10 Nucleus NA 0 PE1 NX_Q5VYY2 48233 423 6.64 10 Secreted NA 0 PE2 NX_Q5VZ03 17614 156 6.9 9 Cytosol NA 0 PE2 NX_Q5VZ18 53950 495 9.23 1 NA NA 0 PE1 NX_Q5VZ19 40941 366 8.1 1 Cytoplasmic vesicle NA 0 PE1 NX_Q5VZ46 126604 1190 9.1 1 Cytoplasmic vesicle;Nucleus membrane NA 0 PE1 NX_Q5VZ52 18731 161 5.58 9 NA NA 0 PE1 NX_Q5VZ66 98529 844 5.53 10 Golgi apparatus NA 0 PE1 NX_Q5VZ72 27768 239 8.62 9 Cell membrane NA 1 PE1 NX_Q5VZ89 212711 1909 6.39 9 Cytosol;Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Cell membrane;Golgi apparatus NA 0 PE1 NX_Q5VZB9 53125 504 9.15 9 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q5VZE5 83639 725 6.6 9 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q5VZF2 40518 373 8.77 13 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q5VZI3 37569 342 5.19 9 Cytosol;Cell membrane;Membrane NA 2 PE1 NX_Q5VZK9 151557 1371 8.02 6 Cytosol;Lamellipodium;Cytoskeleton;Cell membrane;Cytoplasm NA 0 PE1 NX_Q5VZL5 172788 1548 6.46 1 Cytosol;Nucleoplasm NA 0 PE1 NX_Q5VZM2 43250 374 5.85 X Cytoplasm;Lysosome NA 0 PE1 NX_Q5VZP5 130176 1158 5.1 1 Sarcomere;Nucleoplasm NA 0 PE1 NX_Q5VZQ5 21545 186 9.79 10 NA NA 0 PE1 NX_Q5VZR2 79011 741 8.51 9 NA NA 0 PE3 NX_Q5VZR4 16372 150 7.77 9 Membrane NA 3 PE2 NX_Q5VZT2 17689 155 10.01 10 NA NA 0 PE2 NX_Q5VZV1 29565 264 4.85 13 Nucleus NA 0 PE1 NX_Q5VZY2 30395 271 8.5 10 Nucleolus;Nucleus;Membrane NA 6 PE1 NX_Q5W041 96405 872 5.89 10 NA NA 0 PE1 NX_Q5W064 42388 366 6.11 10 NA NA 0 PE2 NX_Q5W0A0 81686 696 4.73 13 NA NA 0 PE1 NX_Q5W0B1 81116 726 5.53 13 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q5W0B7 39663 351 9.36 10 Membrane NA 6 PE1 NX_Q5W0N0 18115 161 8.62 9 Membrane NA 1 PE2 NX_Q5W0Q7 120440 1092 5.8 13 Cajal body NA 0 PE1 NX_Q5W0U4 44381 402 5.99 9 Cytosol;Cytoplasm;Membrane;Nucleoplasm NA 0 PE1 NX_Q5W0V3 86558 765 5.13 10 Cytosol;Nucleus speckle NA 0 PE1 NX_Q5W0Z9 42278 365 7.87 13 Cytoplasmic vesicle;Mitochondrion;Perinuclear region;Golgi apparatus membrane;Cell membrane NA 4 PE1 NX_Q5W111 21666 196 6.22 13 Cytoplasmic vesicle NA 0 PE1 NX_Q5W150 15095 140 9.75 20 NA NA 0 PE1 NX_Q5W186 18135 159 8.18 20 Secreted NA 0 PE2 NX_Q5W188 17316 147 4.97 20 Secreted NA 0 PE5 NX_Q5W5W9 24956 228 5.35 2 Endoplasmic reticulum;Golgi apparatus;Secretory vesicle lumen NA 0 PE2 NX_Q5W5X9 50009 447 8.6 15 Cytosol;Cell membrane NA 0 PE1 NX_Q5XG85 10725 94 11.96 9 NA NA 0 PE5 NX_Q5XG87 82360 772 9.56 5 Nucleoplasm;Cytoplasm;Nucleus membrane;Golgi apparatus NA 0 PE1 NX_Q5XG92 63529 561 9.37 16 Cytosol;Secreted NA 0 PE1 NX_Q5XG99 32066 296 5.99 15 Cytosol;Cytoskeleton;Membrane NA 1 PE1 NX_Q5XKE5 57836 535 6.75 12 NA NA 0 PE1 NX_Q5XKK7 21103 198 8.54 15 Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q5XKL5 42793 378 5.68 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q5XKP0 13087 118 9.44 19 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA 1 PE1 NX_Q5XKR4 34159 325 9.54 5 Nucleus NA 0 PE1 NX_Q5XKR9 13109 115 9.64 X NA NA 0 PE2 NX_Q5XLA6 11868 110 5.34 11 Cytoplasm NA 0 PE1 NX_Q5XPI4 148515 1314 6.31 3 Cytosol;Cytoplasm NA 0 PE1 NX_Q5XUX0 60664 539 6.56 16 Nucleoplasm;Cytosol;Golgi apparatus Mental retardation, autosomal recessive 45 0 PE1 NX_Q5XUX1 54115 488 6.02 19 Cytosol NA 0 PE1 NX_Q5XX13 119846 1052 9.47 17 Nucleoplasm NA 0 PE1 NX_Q5XXA6 114078 986 8.76 11 Cytoplasm;Cell membrane NA 8 PE1 NX_Q5Y7A7 30008 266 6.51 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 NX_Q5YKI7 12309 109 5.3 6 Cytoplasm;Golgi apparatus;Membrane NA 0 PE5 NX_Q5ZPR3 57235 534 4.77 15 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q60I27 107748 953 5.75 3 Cytoplasm NA 0 PE1 NX_Q629K1 9683 86 9.36 8 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 NX_Q63HK3 110941 967 8.68 16 Nucleoplasm;Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 NX_Q63HK5 118566 1081 6.83 19 Mitochondrion;Nucleoplasm;Nucleus;Growth cone NA 0 PE1 NX_Q63HM1 33992 303 5.57 17 Cytosol;Mitochondrion;Nucleus NA 0 PE1 NX_Q63HM2 132702 1172 5.88 14 Cytosol;Cytoplasm;Nucleus;Membrane NA 15 PE1 NX_Q63HM9 36313 321 5.87 5 Cytoplasm;Golgi apparatus NA 0 PE1 NX_Q63HN1 61860 556 7.14 9 NA NA 0 PE5 NX_Q63HN8 591407 5207 6.05 17 Cytosol Moyamoya disease 2 0 PE1 NX_Q63HQ0 34280 302 4.79 4 trans-Golgi network;Late endosome;Golgi apparatus;Cell membrane;Early endosome NA 0 PE1 NX_Q63HQ2 111271 1017 7.24 5 Synapse;Extracellular matrix NA 0 PE1 NX_Q63HR2 152580 1409 8.67 12 Focal adhesion;Cell membrane NA 0 PE1 NX_Q63ZE4 60257 541 8.89 11 Membrane NA 11 PE2 NX_Q63ZY3 91174 851 5.44 19 Mitochondrion;Cytoplasm Nephrotic syndrome 16;Palmoplantar keratoderma and woolly hair 0 PE1 NX_Q63ZY6 34347 315 9.01 7 NA NA 0 PE5 NX_Q641Q2 147184 1341 4.69 10 Early endosome membrane;Cell membrane NA 0 PE1 NX_Q641Q3 34398 311 8.72 17 Secreted NA 0 PE1 NX_Q643R3 57219 524 9.17 15 Endoplasmic reticulum membrane NA 2 PE1 NX_Q64ET8 30490 278 7.6 4 Nucleus NA 0 PE2 NX_Q64LD2 60161 544 9.21 14 Nucleoplasm;Nucleus NA 0 PE1 NX_Q658K8 14137 133 5.94 13 NA NA 0 PE5 NX_Q658L1 45933 398 9.12 15 Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q658N2 65694 575 9.34 17 Nucleoplasm;Golgi apparatus;Membrane NA 1 PE1 NX_Q658P3 54601 488 8.86 2 Cytosol;Endosome membrane;Nucleolus Anemia, hypochromic microcytic, with iron overload 2 6 PE1 NX_Q658T7 50084 463 10.2 8 NA NA 0 PE5 NX_Q658Y4 93909 838 5.95 8 Cytoplasmic vesicle;Nucleoplasm;Cytoskeleton;trans-Golgi network NA 0 PE1 NX_Q659A1 110011 982 6.69 15 Nucleoplasm;Nucleus NA 0 PE1 NX_Q659C4 105322 914 7.33 4 Cytosol NA 0 PE1 NX_Q66GS9 133490 1140 5.87 4 Centriole;Focal adhesion Microcephaly 8, primary, autosomal recessive 0 PE1 NX_Q66K14 140525 1250 5.14 5 Nucleolus;Nucleus;Cell membrane;Membrane NA 1 PE1 NX_Q66K41 44235 424 10.42 17 Nucleus NA 0 PE1 NX_Q66K64 66463 600 6.14 19 Cytoplasmic vesicle;Mitochondrion NA 0 PE1 NX_Q66K66 39475 360 9.97 2 Cytoplasmic vesicle;Cell membrane;Membrane NA 7 PE1 NX_Q66K74 112211 1059 6.93 19 Cytosol;Spindle;Nucleus;Cytoskeleton NA 0 PE1 NX_Q66K79 73655 652 8.22 4 Extracellular matrix NA 0 PE1 NX_Q66K80 24494 236 10.2 1 NA NA 0 PE5 NX_Q66K89 83496 784 5.91 16 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q66LE6 52042 453 5.96 10 Cytoplasm NA 0 PE1 NX_Q66PJ3 44915 421 10.93 12 Nucleus speckle;Nucleolus NA 0 PE1 NX_Q674R7 101019 924 8.62 7 Autophagosome membrane NA 6 PE1 NX_Q674X7 86351 775 6.57 1 Nucleus speckle;Cytosol;Cytoplasm;Nucleoplasm;Desmosome;Nucleus;Cytoskeleton NA 0 PE1 NX_Q676U5 68265 607 6.2 2 Cytosol;Cytoplasm;Preautophagosomal structure membrane Inflammatory bowel disease 10 0 PE1 NX_Q67FW5 40713 361 6.97 17 Nucleolus NA 0 PE1 NX_Q684P5 80056 730 6.22 17 Cytosol;Cytoplasm;Perinuclear region;Nucleus membrane NA 0 PE1 NX_Q685J3 451741 4493 4.03 7 Cell membrane;Secreted NA 1 PE1 NX_Q687X5 51981 459 9.39 7 Early endosome membrane;Golgi apparatus membrane;Golgi apparatus;Cell membrane NA 6 PE1 NX_Q68BL7 73054 652 7.89 9 Cytosol;Nucleoplasm;Secreted NA 0 PE1 NX_Q68BL8 83999 750 5.07 1 Cytosol;Secreted NA 0 PE1 NX_Q68CJ6 91132 796 8.85 8 Nucleus speckle NA 0 PE2 NX_Q68CJ9 49077 461 4.99 19 Endoplasmic reticulum membrane;Nucleus NA 1 PE1 NX_Q68CK6 64271 577 8.5 16 Mitochondrion matrix NA 0 PE1 NX_Q68CL5 33318 300 6.25 18 Cytoskeleton;Nucleolus NA 0 PE1 NX_Q68CP4 73293 663 8.69 8 Lysosome membrane Mucopolysaccharidosis 3C;Retinitis pigmentosa 73 11 PE1 NX_Q68CP9 197391 1835 7.08 12 Nucleoplasm;Nucleus;Cell membrane Coffin-Siris syndrome 6 0 PE1 NX_Q68CQ1 145647 1323 6.51 1 Membrane NA 2 PE1 NX_Q68CQ4 87055 756 5.6 1 Nucleoplasm;Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 NX_Q68CQ7 41935 371 9.37 3 Mitochondrion;Membrane NA 1 PE1 NX_Q68CR1 128567 1132 6.87 4 Nucleus;Membrane NA 1 PE1 NX_Q68CR7 97778 880 6.01 4 Membrane NA 2 PE1 NX_Q68CZ1 151201 1315 5.21 16 Cytosol;Cytoplasm;Cell membrane;Cilium axoneme;Centrosome;Tight junction;Cilium basal body Meckel syndrome 5;COACH syndrome;Joubert syndrome 7 0 PE1 NX_Q68CZ2 155266 1445 6.34 7 Focal adhesion NA 0 PE1 NX_Q68CZ6 69650 603 5.4 4 Mitochondrion;Cytoskeleton;Spindle;Centrosome NA 0 PE1 NX_Q68D06 102045 897 6.55 17 Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q68D10 75599 685 9.79 11 Nucleolus;Nucleus NA 0 PE1 NX_Q68D20 20909 193 5.15 7 NA NA 0 PE1 NX_Q68D42 25806 235 5.23 9 Nucleoplasm;Cytoplasmic vesicle;Endoplasmic reticulum;Membrane NA 2 PE2 NX_Q68D51 106865 928 8.75 1 Nucleus NA 0 PE1 NX_Q68D85 50827 454 5.39 11 Cell membrane NA 1 PE1 NX_Q68D86 60448 513 5.71 18 Cytosol;Mitochondrion NA 0 PE1 NX_Q68D91 31372 279 6.41 5 Nucleus NA 0 PE1 NX_Q68DA7 157578 1419 8.67 15 Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus;Adherens junction NA 0 PE1 NX_Q68DC2 92219 871 6.91 9 Cytosol;Cytoplasm;Nucleolus;Nucleus;Cilium Nephronophthisis 16 0 PE1 NX_Q68DD2 95082 849 5.28 15 Cytosol;Cytoplasmic vesicle;Lysosome membrane;Nucleus NA 0 PE1 NX_Q68DE3 241681 2245 7.41 3 Nucleoplasm;Nucleolus;Nucleus;Centrosome NA 0 PE1 NX_Q68DH5 81172 695 7.25 5 Nucleoplasm;Cytosol;Membrane NA 9 PE1 NX_Q68DI1 59613 518 8.68 19 Cytosol;Nucleus NA 0 PE1 NX_Q68DK2 284576 2539 5.97 14 Centrosome;Midbody Spastic paraplegia 15, autosomal recessive 0 PE1 NX_Q68DK7 67128 614 9.1 17 Nucleoplasm;Nucleus NA 0 PE1 NX_Q68DL7 77230 685 9.83 18 Mitochondrion NA 0 PE1 NX_Q68DN1 224321 1984 10.09 2 Nucleus NA 0 PE1 NX_Q68DQ2 330633 2970 5.1 3 Cytosol;Nucleoplasm NA 0 PE1 NX_Q68DU8 49138 428 8.4 5 Nucleus speckle;Postsynaptic cell membrane;Presynaptic cell membrane NA 0 PE1 NX_Q68DV7 85722 783 8.1 17 Endoplasmic reticulum membrane;Nucleus envelope;Cell membrane Sessile serrated polyposis cancer syndrome 1 PE1 NX_Q68DX3 144282 1309 6.29 10 Cytoplasm;Basolateral cell membrane;Tight junction NA 0 PE1 NX_Q68DY1 60893 528 9.29 19 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Nucleus membrane NA 0 PE2 NX_Q68DY9 55367 489 7.78 19 Cytosol;Nucleus NA 0 PE1 NX_Q68E01 118070 1043 5.53 1 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q68EA5 64428 555 9.06 19 Nucleolus;Nucleus NA 0 PE1 NX_Q68EM7 95437 881 7.22 16 Cytosol;Cytoplasm;Cell membrane;Nucleus;Membrane;Tight junction NA 0 PE1 NX_Q68EN5 53446 471 9.27 16 Nucleoplasm;Cytoplasmic vesicle NA 0 PE2 NX_Q68G74 39301 356 8.61 1 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q68G75 20326 181 8.74 1 Cytosol;Nucleolus;Membrane NA 1 PE1 NX_Q68J44 25336 220 5.68 10 Cytoplasm NA 0 PE1 NX_Q69383 11828 105 10.22 7 Cytoplasm;Nucleolus NA 0 PE1 NX_Q69384 79218 699 9.14 7 Virion;Cell membrane NA 1 PE1 NX_Q693B1 25887 232 6.2 17 Nucleoplasm NA 0 PE1 NX_Q695T7 71110 634 4.92 5 Nucleolus;Apical cell membrane;Cell membrane Hartnup disorder;Hyperglycinuria;Iminoglycinuria 12 PE1 NX_Q69YG0 16991 159 8.97 3 Nucleoplasm;Nucleolus;Membrane NA 4 PE1 NX_Q69YH5 112676 1023 8.71 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q69YI7 35164 327 6.73 9 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q69YL0 10891 99 12 3 NA NA 0 PE1 NX_Q69YN2 60619 538 6.87 10 Nucleoplasm;Golgi apparatus Spinocerebellar ataxia, autosomal recessive, 17 0 PE1 NX_Q69YN4 202025 1812 4.9 8 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 NX_Q69YQ0 124602 1117 5.52 22 Spindle;Gap junction;Cytoskeleton Facial clefting, oblique, 1;Opitz GBBB syndrome 2 0 PE1 NX_Q69YU3 52636 496 9.5 1 Cytosol NA 0 PE1 NX_Q69YU5 8023 71 9.21 12 Mitochondrion;Centrosome;Cell membrane;Secreted NA 0 PE1 NX_Q69YW2 15007 141 6.7 1 Cytosol;Cell membrane;Membrane NA 2 PE1 NX_Q69YZ2 32750 307 11.44 1 Membrane NA 2 PE1 NX_Q6A162 48139 431 4.35 17 NA NA 0 PE1 NX_Q6A163 55651 491 5.19 17 NA NA 0 PE1 NX_Q6A1A2 44765 396 8.61 16 Cytoplasm;Membrane NA 0 PE5 NX_Q6A555 14575 127 9.56 9 Cytoplasm;Golgi apparatus NA 0 PE1 NX_Q6AHZ1 166782 1483 9.38 10 Nucleus NA 0 PE1 NX_Q6AI08 128781 1181 6.64 17 Mitochondrion NA 0 PE1 NX_Q6AI12 41088 368 4.88 17 Cytosol;Golgi apparatus NA 0 PE1 NX_Q6AI14 89814 798 8.76 2 Nucleoplasm;Apical cell membrane;Basolateral cell membrane;Cytoplasmic granule membrane;Cell membrane NA 10 PE2 NX_Q6AI39 115084 1079 6.38 6 Nucleoplasm NA 0 PE1 NX_Q6AW86 60602 544 9.78 19 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q6AWC2 133891 1192 5.4 4 Cytoskeleton NA 0 PE1 NX_Q6AWC8 16804 147 9.84 11 NA NA 0 PE5 NX_Q6AZW8 38270 331 9.46 3 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q6AZY7 65137 606 6.08 8 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum NA 1 PE1 NX_Q6AZZ1 56259 485 6.07 11 Cytosol;Perinuclear region;Nucleus NA 0 PE1 NX_Q6B0B8 52027 471 7.12 11 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE2 NX_Q6B0I6 58603 523 9.28 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6B0K9 15618 141 6.12 16 NA NA 0 PE1 NX_Q6B8I1 20658 188 7.08 10 Cytoplasm NA 0 PE1 NX_Q6B9Z1 13885 124 6.06 19 Cytosol;Secreted NA 0 PE2 NX_Q6BAA4 46904 426 9.16 1 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_Q6BCY4 31458 276 8.49 11 Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q6BDI9 26571 236 6.89 12 Early endosome membrane NA 0 PE1 NX_Q6BDS2 159485 1440 5.75 6 Cytosol;Cytoplasm;Nucleus membrane;Nucleoplasm NA 0 PE1 NX_Q6BEB4 41964 398 9.43 2 Nucleolus;Nucleus NA 0 PE1 NX_Q6DCA0 34499 310 9.18 2 Cytosol;Nucleus NA 0 PE1 NX_Q6DD87 40428 382 8.25 19 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 NX_Q6DD88 60542 541 5.43 11 Endoplasmic reticulum membrane;Endoplasmic reticulum Neuropathy, hereditary sensory, 1F 2 PE1 NX_Q6DHV5 122955 1058 6.68 10 Nucleolus NA 0 PE1 NX_Q6DHV7 40264 355 5.89 15 Cytoskeleton NA 0 PE1 NX_Q6DHY5 62231 549 9.2 17 Cell membrane NA 0 PE1 NX_Q6DJT9 55909 500 8.84 8 Nucleus speckle;Nucleus NA 0 PE1 NX_Q6DKI1 28661 246 10.51 6 Mitochondrion;Nucleolus NA 0 PE1 NX_Q6DKI2 39607 356 9.36 17 NA NA 0 PE1 NX_Q6DKI7 34344 326 9.27 7 Nucleolus;Endoplasmic reticulum;Cell membrane NA 3 PE1 NX_Q6DKJ4 48392 435 4.88 17 Cytosol;Nucleus;Golgi apparatus NA 0 PE1 NX_Q6DKK2 42457 380 5.57 17 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 2 0 PE1 NX_Q6DN03 21472 193 10.7 1 Nucleus;Chromosome NA 0 PE5 NX_Q6DN12 99596 878 7.48 15 Cytosol;Nucleoplasm;Membrane NA 2 PE1 NX_Q6DN14 111624 999 8.39 5 Cytosol;Endoplasmic reticulum membrane;Synaptic vesicle membrane;Recycling endosome;Nucleoplasm NA 2 PE1 NX_Q6DN72 47748 434 7.53 1 Cell membrane NA 1 PE1 NX_Q6DN90 108314 963 6.49 3 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q6DRA6 18018 164 10.6 1 Nucleus;Chromosome NA 0 PE5 NX_Q6DT37 172459 1551 5.91 11 Cytosol;Cytoplasm NA 0 PE1 NX_Q6DWJ6 40679 353 9.43 16 Cell membrane NA 7 PE2 NX_Q6E0U4 47082 476 6.8 19 Nucleoplasm;Cytosol;Secreted NA 0 PE1 NX_Q6E213 38094 333 9.42 X Endoplasmic reticulum membrane NA 3 PE1 NX_Q6EBC2 18205 164 5.28 12 Secreted NA 0 PE1 NX_Q6ECI4 82650 717 8.91 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6EEV4 15131 148 8.68 15 NA NA 0 PE1 NX_Q6EEV6 10685 95 6.57 6 NA Diabetes mellitus, insulin-dependent, 5 0 PE1 NX_Q6EIG7 23998 209 5.86 12 Membrane NA 1 PE1 NX_Q6EKJ0 107233 949 5.62 7 Nucleus NA 0 PE1 NX_Q6EMB2 143577 1281 8.82 14 Cytosol;Cytoplasm;Nucleus envelope;Cell membrane;Nucleus;Cilium;Cilium basal body Cone-rod dystrophy 19 0 PE1 NX_Q6EMK4 71713 673 7.16 16 Mitochondrion;Membrane;Nucleus;Nucleolus;Secreted NA 1 PE1 NX_Q6F5E7 14331 133 8.23 3 NA NA 0 PE2 NX_Q6F5E8 154689 1435 6.31 16 Lamellipodium;Cytoskeleton;Ruffle;Cell membrane;Cytoplasm NA 0 PE1 NX_Q6FHJ7 39827 346 9.12 7 Secreted Pyle disease 0 PE1 NX_Q6FI13 14095 130 10.9 1 Nucleus;Chromosome NA 0 PE1 NX_Q6FI81 33582 312 5.44 16 Mitochondrion;Cytoplasm;Nucleus;Mitochondrion intermembrane space NA 0 PE1 NX_Q6FIF0 22555 208 6.87 15 Cytoplasm NA 0 PE1 NX_Q6GMR7 58304 532 9.2 X Membrane NA 1 PE1 NX_Q6GMV1 21132 187 4.96 3 NA NA 0 PE2 NX_Q6GMV2 47341 418 4.98 2 Mitochondrion NA 0 PE1 NX_Q6GMV3 15805 140 9.2 2 Nucleoplasm NA 0 PE1 NX_Q6GPH4 34626 301 8.57 17 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 NX_Q6GPH6 63395 555 6 2 Membrane NA 1 PE1 NX_Q6GPI1 27923 263 7.98 16 Extracellular space NA 0 PE1 NX_Q6GQQ9 92526 843 6.27 1 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q6GTS8 55741 502 6.2 1 Secreted NA 0 PE1 NX_Q6GTX8 31412 287 5.4 19 Cell membrane NA 1 PE1 NX_Q6GV28 25828 225 8.4 11 Acrosome membrane NA 4 PE2 NX_Q6GYQ0 229832 2036 5.79 14 Mitochondrion;Cytosol;Nucleus;Cytoplasm NA 0 PE1 NX_Q6H3X3 37106 334 6.88 6 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane;Secreted NA 1 PE1 NX_Q6H8Q1 67812 611 8.29 4 Nucleoplasm;Cytoplasm;Mitochondrion NA 0 PE1 NX_Q6H9L7 63906 571 4.7 14 Nucleoplasm;Secreted NA 0 PE1 NX_Q6HA08 45936 431 7.67 2 Cytoplasm;Secretory vesicle;Cell membrane;Cytoplasmic granule NA 0 PE1 NX_Q6I9Y2 23743 204 5.47 3 Cytosol;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 NX_Q6IA17 45679 410 6.02 11 Cytosol;Nucleolus;Membrane NA 1 PE1 NX_Q6IA69 79285 706 6.02 11 Cytosol NA 0 PE1 NX_Q6IA86 92500 826 5.6 18 Cytosol;Cytoplasm;Nucleus Mental retardation, autosomal recessive 58 0 PE1 NX_Q6IAA8 17745 161 5.01 11 Cytoplasmic vesicle;Lysosome membrane;Late endosome membrane;Cell membrane;Golgi apparatus NA 0 PE1 NX_Q6IAN0 35119 325 9.59 17 Cytosol;Endoplasmic reticulum membrane;Cell junction;Cell membrane NA 1 PE1 NX_Q6IB77 33924 296 8.38 11 Mitochondrion NA 0 PE1 NX_Q6IBS0 39548 349 6.37 3 Perinuclear region;Stereocilium;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q6IBW4 68227 605 4.66 22 Nucleoplasm;Cytoskeleton;Nucleus;Chromosome NA 0 PE1 NX_Q6IC83 27691 251 5.02 22 NA NA 0 PE2 NX_Q6IC98 66408 578 8.98 22 Mitochondrion membrane NA 3 PE1 NX_Q6ICB0 18263 168 4.86 22 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q6ICB4 28338 259 6.66 22 Recycling endosome;Clathrin-coated vesicle;trans-Golgi network;Early endosome NA 0 PE1 NX_Q6ICC9 26154 239 11.18 22 Cytosol;Nucleus speckle NA 0 PE1 NX_Q6ICG6 45794 404 8.06 22 Mitochondrion;Nucleus membrane NA 0 PE1 NX_Q6ICG8 31909 309 7.66 22 NA NA 0 PE1 NX_Q6ICH7 41699 369 7.47 22 Membrane NA 1 PE1 NX_Q6ICI0 21740 200 8.82 22 Membrane NA 4 PE2 NX_Q6ICL3 30937 276 5.04 22 Golgi apparatus Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 0 PE1 NX_Q6ICL7 36747 350 9.66 22 Cytosol;Membrane NA 8 PE1 NX_Q6IE36 161251 1432 5.16 12 Secreted NA 0 PE2 NX_Q6IE37 134499 1185 5.17 12 Secreted NA 0 PE2 NX_Q6IE38 11057 97 9.17 5 Secreted NA 0 PE3 NX_Q6IE81 95533 842 8.2 4 Mitochondrion;Cytoplasm;Nucleus;Cilium basal body NA 0 PE1 NX_Q6IED9 27571 249 9.67 7 NA NA 0 PE5 NX_Q6IEE7 107094 984 5.58 17 Membrane NA 1 PE1 NX_Q6IEE8 67096 588 8.34 17 Membrane NA 1 PE2 NX_Q6IEG0 39965 339 6.49 6 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q6IEU7 35592 315 8.56 11 Cell membrane NA 7 PE2 NX_Q6IEV9 35003 310 9.11 11 Cell membrane NA 7 PE2 NX_Q6IEY1 35074 312 9.04 5 Cell membrane NA 7 PE2 NX_Q6IEZ7 35595 315 8.71 1 Cell membrane NA 7 PE2 NX_Q6IF00 36228 324 9.03 1 Cell membrane NA 7 PE2 NX_Q6IF36 33950 304 7.11 11 Cell membrane NA 7 PE5 NX_Q6IF42 35820 318 8.74 7 Cell membrane NA 7 PE2 NX_Q6IF63 34414 320 9.04 11 Cell membrane NA 7 PE2 NX_Q6IF82 34760 309 8.77 11 Cell membrane NA 7 PE3 NX_Q6IF99 35029 312 8.92 1 Cell membrane NA 7 PE3 NX_Q6IFG1 35913 317 9.4 11 Cell membrane NA 7 PE2 NX_Q6IFH4 35029 312 8.41 2 Cell membrane NA 7 PE2 NX_Q6IFN5 38279 339 7.14 19 Cell membrane NA 7 PE2 NX_Q6IMI4 34919 303 6.01 2 Cytoplasm NA 0 PE2 NX_Q6IMI6 35889 304 6.43 2 Cytoplasm NA 0 PE1 NX_Q6IMN6 125925 1127 6.28 12 Cytosol;Cytoplasm;Cell membrane;Nucleus;Mitochondrion;Centrosome NA 0 PE1 NX_Q6IN84 38638 353 8.15 17 Mitochondrion NA 0 PE1 NX_Q6IN85 95368 833 4.83 14 Nucleoplasm;Cytoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q6IN97 35161 320 5.87 10 NA NA 0 PE5 NX_Q6IPM2 77298 695 9.15 7 Mitochondrion;Cytoplasm;Cilium membrane;Cytosol;Nucleoplasm NA 0 PE1 NX_Q6IPR1 10864 90 9.92 12 Mitochondrion;Microtubule organizing center NA 0 PE1 NX_Q6IPR3 29794 259 7.59 1 Cytosol;Cell membrane NA 0 PE1 NX_Q6IPT2 27609 247 8.86 19 Nucleolus NA 0 PE1 NX_Q6IPT4 35892 315 5.05 1 Nucleoplasm NA 0 PE2 NX_Q6IPU0 33165 288 5.9 9 Centromere;Nucleolus;Nucleus NA 0 PE1 NX_Q6IPW1 13249 123 11.73 11 Nucleoplasm NA 0 PE2 NX_Q6IPX1 62187 549 9.24 17 Cell membrane NA 0 PE2 NX_Q6IPX3 22298 200 5.15 X Nucleus NA 0 PE1 NX_Q6IQ16 44647 392 6.99 2 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q6IQ19 30216 270 7.7 1 Centriole;Cell membrane;Cilium;Axon;Spindle;Nucleus;Cilium axoneme;Cytoskeleton;Centrosome;Cilium basal body NA 0 PE1 NX_Q6IQ20 45596 393 5.71 7 Nucleoplasm;Cytosol;Early endosome membrane;Golgi apparatus membrane;Nucleus envelope NA 0 PE1 NX_Q6IQ21 80007 691 9.64 15 Nucleus NA 0 PE1 NX_Q6IQ22 27248 244 8.68 18 Cytoplasmic vesicle;Recycling endosome membrane;Lysosome membrane;Golgi apparatus membrane;Autophagosome NA 0 PE1 NX_Q6IQ23 127135 1121 9.39 11 Cytosol;Cytoplasm;Centrosome;Nucleus;Adherens junction;Cell junction NA 0 PE1 NX_Q6IQ26 147096 1287 6.21 11 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus Epileptic encephalopathy, early infantile, 49 0 PE1 NX_Q6IQ32 122833 1131 9.3 18 Cytosol;Mitochondrion;Nucleus NA 0 PE1 NX_Q6IQ49 49742 451 5.77 1 Cytosol;Nucleus speckle;Nucleus;Cell membrane;Golgi apparatus NA 0 PE1 NX_Q6IQ55 137412 1244 6.54 15 Cytosol;Centriole;Nucleus;Cilium;Cilium basal body Spinocerebellar ataxia 11 0 PE1 NX_Q6IS14 16773 154 4.85 10 Endoplasmic reticulum membrane;Cytoplasm;Nuclear pore complex;Nucleus NA 0 PE2 NX_Q6IS24 67751 598 9.07 7 Golgi apparatus membrane;Nucleolus;Nucleus;Golgi apparatus NA 1 PE1 NX_Q6ISB3 71105 625 6.06 8 Nucleoplasm;Nucleus;Membrane Corneal dystrophy, posterior polymorphous, 4;Deafness, autosomal dominant, 28;Ectodermal dysplasia/short stature syndrome 0 PE1 NX_Q6ISS4 16280 152 5.13 19 Secreted NA 0 PE1 NX_Q6ISU1 29266 281 6.58 6 Membrane NA 1 PE1 NX_Q6IV72 87721 752 9.43 7 Cytoplasm;Nucleus NA 0 PE1 NX_Q6IWH7 105532 933 8.11 2 Cytosol;Endoplasmic reticulum;Cell junction;Cell membrane NA 8 PE1 NX_Q6J272 36165 317 7.68 9 NA NA 0 PE1 NX_Q6J4K2 64231 584 8.32 12 Mitochondrion inner membrane NA 13 PE1 NX_Q6J9G0 47577 422 7.1 12 Nucleus;Golgi apparatus;Cell membrane;Membrane NA 1 PE1 NX_Q6JBY9 44504 416 5.34 1 Nucleoplasm;Cell membrane NA 0 PE1 NX_Q6JEL2 68942 608 5.47 17 Cytoplasm Spermatogenic failure 11 0 PE1 NX_Q6JQN1 118834 1059 8.33 12 NA NA 0 PE1 NX_Q6JVE5 21500 192 5.48 9 Secreted NA 0 PE2 NX_Q6JVE6 20759 187 10.36 9 Secreted NA 0 PE1 NX_Q6JVE9 19080 175 6.83 9 Secreted NA 0 PE2 NX_Q6K0P9 55065 492 9.82 1 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_Q6KB66 50525 452 5.58 12 Cytoskeleton NA 0 PE1 NX_Q6KC79 316051 2804 8.09 5 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Chromosome Cornelia de Lange syndrome 1 0 PE1 NX_Q6KCM7 52663 469 8.54 9 Mitochondrion;Cytoplasmic vesicle;Mitochondrion inner membrane NA 6 PE1 NX_Q6KF10 50662 455 9.1 8 Nucleoplasm;Cytoplasmic vesicle;Nucleus membrane;Secreted Multiple synostoses syndrome 4;Microphthalmia, isolated, 4;Klippel-Feil syndrome 1, autosomal dominant;Leber congenital amaurosis 17 0 PE1 NX_Q6L8G4 14610 156 8.16 11 NA NA 0 PE1 NX_Q6L8G5 17984 202 8.19 11 NA NA 0 PE2 NX_Q6L8G8 15150 165 8.05 11 NA NA 0 PE2 NX_Q6L8G9 11784 129 8.18 11 NA NA 0 PE1 NX_Q6L8H1 25249 288 8.38 11 NA NA 0 PE1 NX_Q6L8H2 22106 238 8.32 11 NA NA 0 PE1 NX_Q6L8H4 24194 278 8.39 11 NA NA 0 PE2 NX_Q6L8Q7 67352 609 6.11 3 Mitochondrion matrix NA 0 PE1 NX_Q6L9T8 16688 149 6.27 1 NA NA 0 PE2 NX_Q6L9W6 114975 998 7.07 12 Golgi stack membrane NA 1 PE1 NX_Q6MZM0 131603 1159 6.27 11 Membrane NA 1 PE1 NX_Q6MZM9 22720 219 4.82 4 Endoplasmic reticulum;Secreted NA 0 PE1 NX_Q6MZN7 14098 132 7.83 6 NA NA 0 PE2 NX_Q6MZP7 79494 749 9.22 4 Cytosol;Nucleus NA 0 PE1 NX_Q6MZQ0 40836 368 6.28 11 Cytosol;Cytoskeleton NA 0 PE1 NX_Q6MZT1 28962 257 8.79 5 Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q6MZW2 93096 842 5.88 5 Mitochondrion;Secreted NA 0 PE1 NX_Q6MZZ7 76696 669 7.01 2 Nucleoplasm NA 0 PE1 NX_Q6N021 223811 2002 8.22 4 Nucleoplasm Myelodysplastic syndrome;Polycythemia vera 0 PE1 NX_Q6N022 307957 2769 6.1 11 Nucleus;Cell projection;Cell membrane;Cytoplasm Tremor, hereditary essential 5 1 PE1 NX_Q6N043 109285 979 8.51 15 Golgi apparatus;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Centrosome NA 0 PE1 NX_Q6N063 38996 350 5.45 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6N069 101462 864 8.06 13 Cytosol NA 0 PE1 NX_Q6N075 49765 450 7.96 12 Cell membrane;Golgi apparatus NA 12 PE1 NX_Q6NS38 29322 261 9.68 12 Nucleus NA 0 PE1 NX_Q6NSI1 35437 321 5.23 16 NA NA 0 PE5 NX_Q6NSI3 42585 398 9.21 4 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6NSI4 97554 855 8.65 X Cytoskeleton;Chromosome NA 0 PE1 NX_Q6NSI8 82007 718 6.5 2 Nucleolus;Nucleus NA 0 PE1 NX_Q6NSJ0 81087 714 8.6 9 Mitochondrion;Endoplasmic reticulum membrane;Nucleus membrane NA 1 PE1 NX_Q6NSJ2 71912 640 6.16 19 Cytosol;Nucleus speckle;Cell membrane NA 0 PE1 NX_Q6NSJ5 90247 796 6.52 19 Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum NA 4 PE1 NX_Q6NSW5 40514 357 6.09 X NA NA 0 PE5 NX_Q6NSW7 34673 305 5.85 15 Nucleus NA 0 PE2 NX_Q6NSX1 28767 233 5.7 13 Cell membrane;Secreted NA 0 PE1 NX_Q6NSZ9 61474 544 7.82 7 Nucleolus;Nucleus NA 0 PE1 NX_Q6NT04 63236 549 8.91 16 Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q6NT16 48869 456 5.15 6 Cytosol;Golgi apparatus;Membrane NA 12 PE1 NX_Q6NT32 63926 575 5.98 16 Secreted NA 0 PE1 NX_Q6NT46 12785 116 4.37 X NA NA 0 PE1 NX_Q6NT52 17374 163 8.91 19 Secreted NA 0 PE2 NX_Q6NT55 61958 531 8.95 19 Endoplasmic reticulum membrane;Microsome membrane Ichthyosis, congenital, autosomal recessive 5 0 PE1 NX_Q6NT76 47278 420 5.72 8 Cajal body;PML body;Cytosol;Cytoplasm;Telomere;Nucleoplasm;Nucleus NA 0 PE1 NX_Q6NT89 23482 227 11.43 1 Nucleus NA 0 PE2 NX_Q6NTE8 37743 343 8.98 5 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q6NTF7 23532 200 8.84 22 Cytoplasm;P-body;Nucleus NA 0 PE1 NX_Q6NTF9 39202 364 9.48 7 cis-Golgi network membrane;Golgi apparatus NA 5 PE1 NX_Q6NUI1 23810 221 6.67 17 Nucleus;Cell membrane NA 0 PE5 NX_Q6NUI2 87835 795 7.74 2 Mitochondrion;Mitochondrion outer membrane NA 2 PE1 NX_Q6NUI6 82388 762 9.2 22 Secreted;Extracellular matrix NA 0 PE1 NX_Q6NUJ1 56627 521 7.12 4 Cytosol;Secreted NA 0 PE1 NX_Q6NUJ2 20623 197 9.85 11 Membrane NA 1 PE1 NX_Q6NUJ5 63967 590 8.52 10 Nucleoplasm NA 0 PE1 NX_Q6NUK1 53354 477 6 1 Mitochondrion;Mitochondrion inner membrane Fontaine progeroid syndrome 6 PE1 NX_Q6NUK4 29264 255 9.57 10 Endoplasmic reticulum membrane NA 3 PE1 NX_Q6NUM6 76946 668 5.86 7 NA NA 0 PE2 NX_Q6NUM9 66820 610 8.54 2 Endoplasmic reticulum membrane;Nucleolus NA 0 PE1 NX_Q6NUN0 64760 579 8.69 16 Mitochondrion matrix NA 0 PE1 NX_Q6NUN7 88569 778 9.28 11 Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q6NUN9 69136 644 6.41 7 Cytoplasm;Nucleus NA 0 PE1 NX_Q6NUP7 99452 873 7.96 14 Cytosol;Cytoplasm NA 0 PE1 NX_Q6NUQ1 90632 792 5.29 7 Endoplasmic reticulum membrane;Cytoplasm;Golgi apparatus NA 0 PE1 NX_Q6NUQ4 77151 689 9.28 2 Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum;Golgi apparatus NA 2 PE1 NX_Q6NUR6 5133 42 5.4 7 NA NA 0 PE5 NX_Q6NUS6 66157 607 8.6 10 Cytoskeleton;Endoplasmic reticulum;Membrane Joubert syndrome 18;Orofaciodigital syndrome 4 1 PE1 NX_Q6NUS8 59151 523 8.2 5 Cytosol;Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q6NUT2 87374 758 9.24 12 Mitochondrion;Nucleus;Membrane Spermatogenic failure 9 11 PE1 NX_Q6NUT3 52075 480 8.67 19 Mitochondrion;Nucleoplasm;Membrane NA 12 PE1 NX_Q6NV74 102157 962 8.14 2 Cytoskeleton;Centrosome NA 0 PE1 NX_Q6NV75 65361 609 7.9 1 Cell membrane NA 7 PE2 NX_Q6NVH7 24311 229 5.09 19 Nucleus NA 0 PE1 NX_Q6NVU6 15060 142 5.9 7 NA NA 0 PE1 NX_Q6NVV0 3805 33 3.31 12 NA NA 0 PE5 NX_Q6NVV1 12135 102 10.76 14 NA NA 0 PE5 NX_Q6NVV3 44638 410 5.68 4 Golgi apparatus;Membrane NA 9 PE1 NX_Q6NVV7 13877 123 8.34 22 Cytosol;Nucleus NA 0 PE1 NX_Q6NVV9 47181 412 6.34 8 NA NA 0 PE5 NX_Q6NVY1 43482 386 8.38 2 Mitochondrion;Nucleoplasm 3-hydroxyisobutryl-CoA hydrolase deficiency 0 PE1 NX_Q6NW29 21251 188 5.24 4 Cytoskeleton NA 0 PE1 NX_Q6NW34 64552 567 9.79 3 Nucleolus;Nucleus NA 0 PE1 NX_Q6NW40 47547 437 5.92 5 Nucleoplasm;Membrane raft;Cell membrane NA 0 PE1 NX_Q6NWY9 99358 871 6.39 12 Cytosol;Nucleus speckle;Nucleus;Nucleoplasm NA 0 PE1 NX_Q6NX45 55068 483 8.72 15 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 NX_Q6NX49 81742 715 8.15 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6NXE6 54142 501 5.83 19 Cytosol NA 0 PE1 NX_Q6NXG1 75585 681 6.24 8 Nucleoplasm;Nucleus Deafness, autosomal recessive, 109 0 PE1 NX_Q6NXN4 28036 242 9.85 7 Membrane NA 3 PE2 NX_Q6NXP0 66551 572 9.51 3 NA NA 0 PE1 NX_Q6NXP2 34516 309 6.15 7 Nucleoplasm NA 0 PE2 NX_Q6NXP6 39880 359 6.2 14 NA NA 0 PE1 NX_Q6NXR0 50288 463 5.22 19 NA NA 0 PE1 NX_Q6NXR4 56915 508 6.63 8 Centrosome Mental retardation, autosomal recessive 39 0 PE1 NX_Q6NXS1 23106 205 4.77 5 NA NA 0 PE1 NX_Q6NXT1 32505 300 5.84 22 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus;Midbody NA 0 PE1 NX_Q6NXT2 15214 135 11.11 12 Nucleus;Chromosome NA 0 PE1 NX_Q6NXT4 51116 461 9.28 2 trans-Golgi network membrane;Golgi apparatus NA 6 PE1 NX_Q6NXT6 64260 567 8.56 4 Cytoplasmic vesicle;Membrane;Centrosome;Cilium basal body Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 5 PE1 NX_Q6NY19 88425 840 5.17 19 Cell membrane NA 0 PE1 NX_Q6NYC1 46462 403 8.84 17 Nucleoplasm;Nucleolus NA 0 PE1 NX_Q6NYC8 67943 613 5.38 6 Nucleoplasm;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q6NZ36 19869 180 6.9 1 Nucleoplasm;Nucleus;Cell junction;Chromosome NA 0 PE1 NX_Q6NZ63 28815 245 8.82 7 Membrane NA 4 PE2 NX_Q6NZ67 16226 158 10.16 2 Cytoplasm;Spindle;Centrosome NA 0 PE1 NX_Q6NZI2 43476 390 5.51 17 Cytosol;Microsome;Cell membrane;Cytoplasmic vesicle;Mitochondrion;Nucleus;Endoplasmic reticulum;Caveola Congenital generalized lipodystrophy 4 0 PE1 NX_Q6NZY4 78577 707 4.8 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6NZY7 15207 148 6.9 19 Cytoskeleton;Endomembrane system NA 0 PE1 NX_Q6P047 33735 294 7.74 8 Nucleoplasm NA 0 PE1 NX_Q6P050 27269 247 9.99 15 Cytosol;Nucleolus;Z line NA 0 PE1 NX_Q6P087 38461 351 10.33 3 Mitochondrion matrix;Nucleus NA 0 PE1 NX_Q6P093 46099 401 7.2 3 Secreted NA 0 PE2 NX_Q6P0A1 25167 224 4.95 11 Membrane NA 1 PE1 NX_Q6P0N0 129085 1132 9.31 14 Cytosol;Nucleus;Nucleolus;Centromere;Chromosome NA 0 PE1 NX_Q6P0Q8 196436 1798 8.41 1 Cytosol;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q6P158 155604 1386 7.83 2 Cytosol;Cytoskeleton;Nucleolus NA 0 PE1 NX_Q6P161 15819 138 9.6 19 Mitochondrion NA 0 PE1 NX_Q6P179 110462 960 6.25 5 Endoplasmic reticulum membrane;Golgi apparatus NA 1 PE1 NX_Q6P1A2 56035 487 8.88 12 Endoplasmic reticulum membrane NA 9 PE1 NX_Q6P1J6 163081 1458 5.57 2 Cytosol;Apical cell membrane NA 1 PE1 NX_Q6P1J9 60577 531 9.63 1 Cytosol;Nucleus Hyperparathyroidism 1;Parathyroid carcinoma;Hyperparathyroidism 2 with jaw tumors 0 PE1 NX_Q6P1K1 16419 146 9.66 12 Endosome membrane;Cytoplasmic vesicle;Lysosome membrane NA 4 PE1 NX_Q6P1K2 23339 205 5.39 1 Nucleoplasm;Kinetochore;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q6P1K8 44452 395 6.13 5 Nucleus NA 0 PE1 NX_Q6P1L5 61968 589 9.86 2 Nucleus;Centrosome NA 0 PE1 NX_Q6P1L6 69220 599 9.19 20 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6P1L8 15948 145 10.26 6 Mitochondrion NA 0 PE1 NX_Q6P1M0 72064 643 8.77 9 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Membrane Ichthyosis prematurity syndrome 2 PE1 NX_Q6P1M3 113448 1020 7.22 17 Cytoplasmic vesicle;Cytosol;Cytoplasm NA 0 PE1 NX_Q6P1M9 62346 558 8.85 X Cytosol;Nucleus speckle NA 0 PE1 NX_Q6P1N0 104062 951 8.22 19 Nucleolus;Cytosol;Cytoplasm;Cell membrane;Nucleus;Centrosome Mental retardation, autosomal recessive 3 0 PE1 NX_Q6P1N9 33602 297 6.51 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6P1Q0 41790 360 10.32 12 Mitochondrion;Nucleoplasm;Mitochondrion outer membrane NA 1 PE1 NX_Q6P1Q9 43426 378 5.59 7 NA NA 0 PE1 NX_Q6P1R3 61319 559 5.86 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6P1R4 53230 473 8.65 17 Cell membrane NA 0 PE1 NX_Q6P1S2 33765 294 9.85 3 Nucleoplasm;Cytosol;Secreted;Membrane NA 1 PE1 NX_Q6P1W5 65353 598 8.56 1 Cytosol;Nucleoplasm NA 0 PE1 NX_Q6P1X5 136971 1199 8.45 8 Nucleus Mental retardation, autosomal recessive 40 0 PE1 NX_Q6P1X6 23889 216 9.36 8 Nucleus NA 0 PE1 NX_Q6P280 65865 563 8.54 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6P2C0 77378 686 5.99 15 Cytoskeleton NA 0 PE1 NX_Q6P2C8 35432 311 9.37 9 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q6P2D0 47516 407 8.85 16 Nucleus NA 0 PE1 NX_Q6P2D8 89864 792 9.06 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q6P2E9 151661 1401 5.55 16 Cytosol;Nucleoplasm;P-body;Nucleus NA 0 PE1 NX_Q6P2H3 85639 762 5.68 1 Nucleolus;Golgi apparatus;Cytosol;Spindle pole;Microtubule organizing center;Centrosome NA 0 PE1 NX_Q6P2H8 31630 277 8.81 1 Focal adhesion;Golgi apparatus;Membrane NA 1 PE1 NX_Q6P2I3 34613 314 7.64 2 NA NA 0 PE1 NX_Q6P2I7 30450 272 9.2 3 Nucleoplasm;Nucleus NA 0 PE2 NX_Q6P2M8 38500 343 6.28 X Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Cell membrane NA 0 PE1 NX_Q6P2P2 94501 845 5.12 4 Cytosol;Nucleoplasm;Cytoskeleton;Cytoplasm NA 0 PE1 NX_Q6P2Q9 273600 2335 8.95 17 Nucleoplasm;Nucleus speckle Retinitis pigmentosa 13 0 PE1 NX_Q6P2S7 151684 1318 8.53 12 Cytoplasm NA 0 PE5 NX_Q6P387 43418 395 8.79 16 Cytosol;Nucleoplasm NA 0 PE2 NX_Q6P3R8 81445 708 9.05 13 NA NA 0 PE2 NX_Q6P3S1 86552 775 5.54 1 Cytosol;Nucleus speckle;Clathrin-coated vesicle Asthma 0 PE1 NX_Q6P3S6 77839 717 7.07 1 Nucleoplasm NA 0 PE1 NX_Q6P3V2 87974 769 9.26 19 Nucleus NA 0 PE1 NX_Q6P3W2 17139 149 4.53 11 Cytosol;Cytoskeleton NA 0 PE1 NX_Q6P3W6 96426 841 4.63 1 Cytoplasm NA 0 PE2 NX_Q6P3W7 103709 929 8.45 12 Endosome membrane;Clathrin-coated vesicle;Perinuclear region;trans-Golgi network membrane NA 0 PE1 NX_Q6P3X3 96632 843 5.42 2 Mitochondrion;Nucleolus NA 0 PE1 NX_Q6P3X8 68011 592 8.82 1 Cytoplasmic vesicle NA 0 PE1 NX_Q6P435 17652 159 9.6 16 NA NA 0 PE5 NX_Q6P444 43384 385 6.53 6 Mitochondrion;Cytoplasmic vesicle NA 0 PE1 NX_Q6P461 53585 480 8.73 10 Mitochondrion NA 0 PE2 NX_Q6P474 51810 469 5.65 16 NA NA 0 PE5 NX_Q6P499 44742 406 8.1 1 Nucleoplasm;Membrane NA 9 PE1 NX_Q6P4A7 37998 337 9.3 10 Cytoplasmic vesicle;Mitochondrion inner membrane Combined oxidative phosphorylation deficiency 18 5 PE1 NX_Q6P4A8 63255 553 9.11 12 Lysosome NA 0 PE1 NX_Q6P4D5 22522 195 9.92 X Nucleoplasm NA 0 PE1 NX_Q6P4E1 48864 433 5.54 15 Golgi apparatus;Membrane NA 1 PE1 NX_Q6P4F1 56094 479 8.62 8 Nucleoplasm;Golgi stack membrane;Golgi apparatus;Endoplasmic reticulum NA 1 PE1 NX_Q6P4F2 19888 186 5.31 19 Mitochondrion;Mitochondrion matrix NA 0 PE1 NX_Q6P4F7 113866 1023 9.19 15 Cytosol;Nucleolus NA 0 PE1 NX_Q6P4H8 26110 233 9.04 5 Cytoplasmic vesicle;Cytoplasm;Nucleus;Mitochondrion membrane;Cell membrane NA 1 PE1 NX_Q6P4I2 41685 378 5.46 15 Cytosol;Spindle;Spindle pole;Cleavage furrow Galloway-Mowat syndrome 1 0 PE1 NX_Q6P4Q7 86607 775 5.75 2 Cytoskeleton;Cell membrane Jalili syndrome 3 PE1 NX_Q6P4R8 139001 1299 9.29 11 Nucleus NA 0 PE1 NX_Q6P531 50509 493 5.66 17 Membrane NA 1 PE1 NX_Q6P575 29908 273 6.54 22 NA NA 0 PE5 NX_Q6P582 16221 158 9.66 2 Cytoplasm;Spindle;Centrosome NA 0 PE1 NX_Q6P587 24843 224 6.96 16 Mitochondrion;Cytosol;Nucleus NA 0 PE1 NX_Q6P589 20556 184 8.54 1 Cytoplasmic vesicle NA 0 PE1 NX_Q6P597 55364 504 6.06 19 Nucleoplasm;Cytosol;Cytoskeleton NA 0 PE1 NX_Q6P5Q4 61675 547 5.63 7 Sarcomere;Cytoskeleton;M line;Myofibril NA 0 PE1 NX_Q6P5R6 14607 122 9.37 3 NA NA 0 PE1 NX_Q6P5S2 37926 330 5.78 6 Secreted NA 0 PE1 NX_Q6P5S7 15420 137 9.21 17 Membrane NA 2 PE1 NX_Q6P5W5 68408 647 5.27 8 Recycling endosome membrane;Cell membrane Acrodermatitis enteropathica, zinc-deficiency type 6 PE1 NX_Q6P5X5 16805 142 8.22 22 Endoplasmic reticulum NA 0 PE1 NX_Q6P5X7 32983 295 6.06 8 Mitochondrion;Membrane NA 2 PE2 NX_Q6P5Z2 99421 889 8.77 9 Cytoplasmic vesicle;Perinuclear region;Nucleus NA 0 PE1 NX_Q6P656 34294 301 5.84 15 NA NA 0 PE1 NX_Q6P6B1 39936 374 4.46 8 Cytosol;Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q6P6B7 39284 361 6.82 10 Cytoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q6P6C2 44256 394 9.19 17 Nucleoplasm;Nucleus speckle;Cytosol;Golgi apparatus NA 0 PE1 NX_Q6P7N7 28468 255 8.92 1 Cytoskeleton;Membrane NA 1 PE2 NX_Q6P988 55699 496 7.52 17 Secreted NA 0 PE1 NX_Q6P995 92181 826 8.79 2 Mitochondrion;Nucleus;Membrane NA 1 PE1 NX_Q6P996 86707 788 5.25 16 NA NA 0 PE1 NX_Q6P9A1 68837 599 9.01 19 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q6P9A2 69561 607 6.07 11 Mitochondrion;Golgi apparatus membrane NA 1 PE1 NX_Q6P9A3 74439 640 8.88 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q6P9B6 50994 456 5.81 16 Cytosol;Cytoplasm;Nucleolus;Nucleus;Membrane NA 0 PE1 NX_Q6P9B9 107995 1019 6.58 11 Cytoplasm;Nucleus;Nucleus membrane NA 3 PE1 NX_Q6P9F0 77748 684 5.73 12 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q6P9F5 29336 258 7.54 6 NA NA 0 PE1 NX_Q6P9F7 92390 803 6.4 1 Endoplasmic reticulum membrane;Nucleus speckle;Cell membrane NA 4 PE1 NX_Q6P9G0 26689 228 5.37 17 Nucleolus;Golgi apparatus NA 0 PE1 NX_Q6P9G4 20498 183 4.5 4 Nucleoplasm;Nucleus membrane;Membrane NA 1 PE1 NX_Q6P9G9 59932 518 6.96 X Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q6P9H4 61904 555 8.94 6 Cytosol;Cytoplasm;Mitochondrion;Apical cell membrane NA 0 PE1 NX_Q6P9H5 32949 292 4.86 7 Cytosol;Nucleoplasm NA 0 PE1 NX_Q6PB30 8697 78 10.94 X NA NA 0 PE2 NX_Q6PCB0 46804 445 7.18 1 Basement membrane NA 0 PE1 NX_Q6PCB5 94870 846 8.91 7 Nucleus speckle;Nucleus;Cell membrane NA 0 PE1 NX_Q6PCB6 35831 329 5.42 15 Postsynaptic density;Recycling endosome membrane;Dendritic spine NA 0 PE1 NX_Q6PCB7 71108 646 8.83 19 Cytosol;Mitochondrion;Endomembrane system;Cell membrane;Cytoplasm NA 1 PE1 NX_Q6PCB8 36881 327 6.13 5 Synapse;Cell membrane NA 1 PE1 NX_Q6PCD5 85094 774 6.02 16 Cytosol;Cytoplasm;Nucleus;PML body;Nucleoplasm Fanconi anemia, complementation group W 0 PE1 NX_Q6PCE3 70442 622 6.81 11 Mitochondrion NA 0 PE1 NX_Q6PCT2 75707 694 9.44 16 Cytoskeleton NA 0 PE1 NX_Q6PD62 133502 1173 6.32 11 Nucleoplasm;Nucleus speckle NA 0 PE1 NX_Q6PD74 34594 315 4.5 15 Cytosol;Cytoplasm;Nucleus speckle Keratoderma, palmoplantar, punctate 1A 0 PE1 NX_Q6PDA7 13842 123 10.54 8 Secreted NA 0 PE2 NX_Q6PDB4 66762 577 9.45 19 NA NA 0 PE2 NX_Q6PEV8 42801 388 4.95 X Cytosol;Nucleus;Golgi apparatus NA 0 PE1 NX_Q6PEW0 43832 395 6.22 16 Secreted NA 0 PE1 NX_Q6PEW1 45369 402 5.87 X Nucleus NA 0 PE1 NX_Q6PEX3 22554 210 8.03 21 NA NA 0 PE1 NX_Q6PEX7 23280 206 5.84 1 Membrane NA 1 PE1 NX_Q6PEY0 25860 223 8.91 6 Gap junction;Cell membrane NA 4 PE2 NX_Q6PEY1 17251 159 10.11 17 Cell membrane NA 2 PE1 NX_Q6PEY2 49859 450 5.01 2 Cytoskeleton NA 0 PE1 NX_Q6PEZ8 56539 512 9.91 19 Extracellular matrix NA 0 PE1 NX_Q6PF04 70143 617 9.17 19 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_Q6PF05 40837 361 6.81 5 Spindle;Midbody;Centrosome NA 0 PE1 NX_Q6PF06 36124 316 7.05 9 Nucleoplasm;Cell membrane NA 0 PE1 NX_Q6PF15 62892 583 8.08 11 Nucleolus;Nucleus;Centrosome NA 0 PE1 NX_Q6PF18 27585 240 8.63 12 Nucleoplasm NA 0 PE1 NX_Q6PFW1 159521 1433 5.26 15 Cytosol;Cell membrane NA 0 PE1 NX_Q6PG37 74571 636 8.81 19 Nucleolus;Nucleus NA 0 PE1 NX_Q6PGN9 38796 363 11.21 1 Nucleoplasm;Cytoplasm;Spindle;Cytosol;Spindle pole NA 0 PE1 NX_Q6PGP7 175486 1564 7.47 5 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Trichohepatoenteric syndrome 1 0 PE1 NX_Q6PGQ1 25064 229 3.88 22 Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_Q6PGQ7 61203 559 4.8 13 Nucleolus;Nucleus NA 0 PE1 NX_Q6PH81 17799 154 10.09 16 Nucleoplasm NA 0 PE1 NX_Q6PH85 30179 259 5.7 13 Cytosol;Cell membrane NA 0 PE1 NX_Q6PHR2 53444 472 6.91 15 Cytoplasm NA 0 PE1 NX_Q6PHW0 33360 289 7.16 6 Cytoplasmic vesicle membrane;Cell membrane Thyroid dyshormonogenesis 4 1 PE1 NX_Q6PI25 18931 160 6.87 11 Endoplasmic reticulum membrane;Dendrite;Postsynaptic cell membrane;Dendritic spine;Postsynaptic density NA 3 PE1 NX_Q6PI26 65125 577 4.7 3 Cytosol;Nucleoplasm NA 0 PE1 NX_Q6PI47 46739 426 9.23 2 Mitochondrion NA 0 PE1 NX_Q6PI48 73563 645 8.19 1 Mitochondrion matrix;Mitochondrion;Nucleus Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 0 PE1 NX_Q6PI73 52399 481 7.67 19 Membrane NA 1 PE1 NX_Q6PI77 60291 547 7.51 X Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 NX_Q6PI78 25498 240 8.9 8 Nucleoplasm;Mitochondrion inner membrane;Cell membrane NA 3 PE1 NX_Q6PI97 19340 169 8.9 11 NA NA 0 PE1 NX_Q6PI98 20643 192 10.03 18 Nucleolus;Nucleus NA 0 PE1 NX_Q6PID6 29411 262 5.32 5 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_Q6PID8 49098 442 9.47 7 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q6PIF2 24690 218 5.57 19 Nucleus NA 0 PE1 NX_Q6PIF6 241599 2116 8.82 2 Microvillus;Cytoskeleton NA 0 PE1 NX_Q6PII3 53958 467 6.04 3 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Hypotonia, infantile, with psychomotor retardation 0 PE1 NX_Q6PII5 31557 290 8.57 16 NA NA 0 PE1 NX_Q6PIJ6 133944 1188 5.92 5 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Cytoskeleton Neuronopathy, distal hereditary motor, 2D 0 PE1 NX_Q6PIL6 28729 250 5.12 4 Cytoplasm;Cell membrane;Endoplasmic reticulum NA 0 PE1 NX_Q6PIS1 64531 610 7.24 2 Nucleus;Cell junction;Membrane NA 12 PE2 NX_Q6PIU1 56304 500 5.75 8 Cell membrane NA 6 PE1 NX_Q6PIU2 45808 408 6.76 3 Microsome;Endoplasmic reticulum;Membrane NA 1 PE1 NX_Q6PIV2 33310 292 9.3 11 Nucleus NA 0 PE1 NX_Q6PIV7 32224 304 9.28 1 Mitochondrion;Mitochondrion inner membrane NA 6 PE2 NX_Q6PIW4 74077 674 8.07 7 Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 NX_Q6PIY5 48855 440 5.56 1 Cytosol NA 0 PE1 NX_Q6PIY7 56028 484 9.45 5 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q6PIZ9 21211 186 5.23 3 Cell membrane NA 1 PE1 NX_Q6PJ21 39376 355 8.74 16 Mitochondrion NA 0 PE1 NX_Q6PJ61 64631 603 7.19 19 Cytosol;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q6PJ69 57353 517 6.26 17 Cytosol;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 NX_Q6PJE2 20620 187 6.81 7 NA NA 0 PE2 NX_Q6PJF5 96686 856 9.1 17 Endoplasmic reticulum membrane;Cell membrane Tylosis with esophageal cancer 7 PE1 NX_Q6PJG2 114989 1045 9.26 14 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6PJG6 88119 821 5.11 7 Nucleoplasm;Cytoplasm;Nucleus Rigidity and multifocal seizure syndrome, lethal neonatal 0 PE1 NX_Q6PJG9 66860 635 6.44 11 Membrane NA 1 PE1 NX_Q6PJI9 109793 974 8.2 16 Cytosol;Lysosome membrane NA 0 PE1 NX_Q6PJP8 116400 1040 8.24 10 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q6PJQ5 35924 311 4.92 X Nucleoplasm;Nucleus NA 0 PE1 NX_Q6PJT7 82876 736 6.99 14 Nucleus speckle;Cytoplasm Mental retardation, autosomal recessive 56 0 PE1 NX_Q6PJW8 79597 725 4.4 1 Cytoplasmic vesicle;Secretory vesicle;trans-Golgi network membrane;Cell membrane NA 1 PE1 NX_Q6PK04 33231 289 10.94 17 Nucleolus;Chromosome NA 0 PE1 NX_Q6PK18 35646 319 8.3 17 Nucleoplasm;Membrane NA 1 PE1 NX_Q6PK57 11596 102 4.82 15 NA NA 0 PE5 NX_Q6PK81 50502 442 9.18 19 Nucleus NA 0 PE1 NX_Q6PKC3 110529 985 6.11 16 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA 1 PE1 NX_Q6PKG0 123510 1096 8.91 5 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Cytoplasmic granule NA 0 PE1 NX_Q6PKH6 24586 230 10.13 14 Secreted NA 0 PE2 NX_Q6PKX4 38318 331 8.72 18 Cytosol;Focal adhesion NA 0 PE1 NX_Q6PL18 158554 1390 5.94 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6PL24 35740 325 4.61 14 NA NA 0 PE1 NX_Q6PL45 28486 260 6.98 16 Nucleoplasm;Cytoskeleton;Membrane NA 2 PE1 NX_Q6PML9 63515 568 8.6 4 Cytoplasmic vesicle;Cytoplasm;Nucleus;Endoplasmic reticulum;Membrane Birk-Landau-Perez syndrome 5 PE1 NX_Q6PP77 52052 449 8.46 X Cell membrane NA 10 PE2 NX_Q6PRD1 257363 2367 5.54 17 Cell membrane Night blindness, congenital stationary, 1E 7 PE1 NX_Q6PRD7 25959 247 9.73 16 Cytoplasm;Nucleus NA 0 PE1 NX_Q6PUV4 15394 134 5.06 5 Cytosol NA 0 PE1 NX_Q6PXP3 55728 512 8.68 1 Membrane NA 12 PE2 NX_Q6Q0C0 74609 670 6.77 16 Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_Q6Q0C1 33435 308 9.39 14 Mitochondrion inner membrane NA 6 PE2 NX_Q6Q4G3 113283 990 5.42 5 Membrane NA 1 PE1 NX_Q6Q6R5 24088 217 8.98 6 Cytoplasm;Nucleus speckle NA 0 PE2 NX_Q6Q759 251742 2223 5.88 1 Cytoplasm;Flagellum axoneme NA 0 PE1 NX_Q6Q788 41213 366 5.98 11 Secreted Hyperlipoproteinemia 5;Hypertriglyceridemia, familial 0 PE1 NX_Q6Q795 13358 121 8.84 3 NA NA 0 PE5 NX_Q6Q8B3 29920 271 9.31 3 Membrane NA 1 PE2 NX_Q6QAJ8 17754 160 6.95 17 Nucleoplasm;Membrane NA 5 PE2 NX_Q6QEF8 52762 472 5.63 17 Golgi apparatus NA 0 PE1 NX_Q6QHC5 37197 323 9.38 14 Endoplasmic reticulum membrane;Nucleolus;Nucleus NA 3 PE1 NX_Q6QHF9 70290 649 5.34 10 Nucleoplasm;Cytoplasm;Centrosome;Peroxisome NA 0 PE1 NX_Q6QHK4 24123 219 7.76 2 Nucleus Premature ovarian failure 6 0 PE1 NX_Q6QN14 44690 398 6.86 4 Cytoplasm;Nucleus NA 0 PE1 NX_Q6QNK2 96530 874 8.02 12 Cytosol;Nucleus;Cell membrane NA 7 PE1 NX_Q6QNY0 21256 202 5.08 19 Cytoplasm;Golgi apparatus Hermansky-Pudlak syndrome 8 0 PE1 NX_Q6QNY1 15961 142 4.78 10 Lysosome membrane;Centrosome NA 0 PE1 NX_Q6R2W3 151666 1325 6.29 6 Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 NX_Q6R327 192218 1708 7.22 5 Mitochondrion NA 0 PE1 NX_Q6R6M4 59619 530 8.5 8 Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q6RFH5 42441 385 8.64 11 Nucleolus;Nucleus NA 0 PE1 NX_Q6RFH8 39442 374 11.11 4 Nucleus NA 0 PE1 NX_Q6RI45 203598 1802 8.02 X Cytosol;Nucleoplasm Mental retardation, X-linked 93 0 PE1 NX_Q6RSH7 15781 139 6.41 1 NA NA 0 PE1 NX_Q6RUI8 13085 117 8.49 19 Cell membrane NA 0 PE2 NX_Q6RVD6 11727 105 10.09 15 NA NA 0 PE1 NX_Q6RW13 17419 159 5.71 1 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Golgi apparatus membrane NA 3 PE1 NX_Q6S545 60965 545 7 22 NA NA 0 PE1 NX_Q6S5H5 57096 508 6.66 14 NA NA 0 PE2 NX_Q6S5L8 68785 630 8.03 15 Cytosol;Postsynaptic cell membrane NA 0 PE1 NX_Q6S8J3 121363 1075 5.83 2 NA NA 0 PE1 NX_Q6S8J7 56166 498 6.01 8 NA NA 0 PE2 NX_Q6S9Z5 40315 364 9.59 5 NA NA 0 PE2 NX_Q6SA08 37454 328 8.78 14 Flagellum;Cell junction;Acrosome NA 0 PE1 NX_Q6SJ93 84674 734 8.83 11 Cytosol;Nucleus Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 0 PE1 NX_Q6SJ96 41524 375 6.05 14 Cytoplasm;Nucleus NA 0 PE1 NX_Q6SPF0 56052 538 7.13 19 Cytosol;Cytoplasm;Mitochondrion;Secreted NA 0 PE1 NX_Q6STE5 55016 483 9.38 7 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6SZW1 79388 724 6.14 17 Cytoplasmic vesicle;Synapse;Cytoplasm;Axon;Dendrite;Mitochondrion NA 0 PE1 NX_Q6T310 27006 242 9.05 13 Nucleolus;Nucleus NA 0 PE1 NX_Q6T311 20755 187 6.04 4 Mitochondrion;Nucleolus NA 0 PE1 NX_Q6T423 61008 547 7.53 11 Membrane NA 12 PE2 NX_Q6T4P5 76037 718 5.66 19 Cytosol;Nucleoplasm;Golgi apparatus;Membrane NA 6 PE1 NX_Q6T4R5 179135 1651 6.4 X Apical cell membrane;Cytoplasm;Focal adhesion;Lamellipodium;Cell junction;Tight junction Cataract 40;Nance-Horan syndrome 0 PE1 NX_Q6TCH4 37989 344 8.22 1 Nucleolus;Nucleus;Cell membrane NA 7 PE1 NX_Q6TCH7 36217 311 8.84 4 Golgi apparatus membrane NA 7 PE1 NX_Q6TDP4 69874 642 7.64 1 Nucleoplasm;Postsynaptic density;Synapse;Nucleus NA 0 PE1 NX_Q6TDU7 83160 716 5.22 12 NA NA 0 PE1 NX_Q6TFL3 152810 1326 6.37 9 Nucleus NA 0 PE1 NX_Q6TFL4 68361 600 5.98 3 Axon;Cytoplasm;Desmosome;Perikaryon;Adherens junction Epidermolysis bullosa simplex, generalized, with scarring and hair loss 0 PE1 NX_Q6TGC4 77727 694 5.13 1 Cytoplasm;Nucleus Preimplantation embryonic lethality 2 0 PE1 NX_Q6U736 39727 354 9.11 6 Membrane NA 7 PE1 NX_Q6U7Q0 46941 402 8.98 6 Cytosol;Cytoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q6U841 125946 1118 6.05 2 Cell membrane NA 12 PE1 NX_Q6U949 18035 168 12.13 11 NA NA 0 PE2 NX_Q6UB28 37088 335 6.35 2 Cytoplasmic vesicle;Mitochondrion NA 0 PE1 NX_Q6UB35 105790 978 8.32 6 Mitochondrion NA 0 PE1 NX_Q6UB98 235652 2062 6.57 18 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q6UB99 297913 2663 6.7 16 Nucleoplasm;Cytosol;Nucleus KBG syndrome 0 PE1 NX_Q6UDR6 11421 99 9.4 20 Secreted NA 0 PE2 NX_Q6UE05 29433 265 7.67 7 Cytoplasmic vesicle;Membrane NA 3 PE1 NX_Q6ULP2 102113 936 4.4 2 Cytoplasmic vesicle;Cytoplasm;Cytosol;Golgi apparatus NA 0 PE1 NX_Q6UN15 66526 594 5.42 4 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6UQ28 23385 207 5.01 11 Apical cell membrane NA 0 PE2 NX_Q6URK8 30717 271 9.09 16 Secreted NA 0 PE1 NX_Q6UUV7 66959 619 6.35 15 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q6UUV9 67300 634 5.65 19 Cytosol;Nucleoplasm;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 NX_Q6UVJ0 74397 657 7.26 1 Centriole;Cytosol;Centrosome;Microtubule organizing center Microcephaly 14, primary, autosomal recessive 0 PE1 NX_Q6UVK1 250537 2322 5.27 15 Cell surface;Apical cell membrane;Nucleus;Lamellipodium membrane;Cell membrane NA 1 PE1 NX_Q6UVM3 130501 1135 6.97 1 Cytoplasmic vesicle;Cell membrane Epileptic encephalopathy, early infantile, 57 6 PE1 NX_Q6UVW9 19972 174 8.75 12 Cell membrane NA 1 PE1 NX_Q6UVY6 69652 613 5.97 6 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane NA 1 PE1 NX_Q6UW01 21521 205 6.58 14 Synapse;Nucleus;cis-Golgi network;Endoplasmic reticulum;Secreted NA 0 PE1 NX_Q6UW02 52432 462 5.84 2 Cytoskeleton;Cell junction;Cell membrane;Membrane NA 1 PE1 NX_Q6UW10 8396 78 7.01 6 Secretory vesicle;Golgi apparatus;Secreted NA 0 PE1 NX_Q6UW15 19330 175 6.7 2 Cytoplasm;Secreted NA 0 PE1 NX_Q6UW32 12363 110 8.22 19 Secreted NA 0 PE1 NX_Q6UW49 38931 350 5.53 15 Acrosome NA 0 PE1 NX_Q6UW56 24747 229 6.95 2 Nucleus envelope;Cell membrane NA 1 PE1 NX_Q6UW60 82795 755 8.67 19 Acrosome membrane;Membrane NA 1 PE1 NX_Q6UW63 58043 502 7.59 13 Endoplasmic reticulum lumen;Nucleus NA 0 PE1 NX_Q6UW68 21198 189 8.91 19 Nucleoplasm;Nucleus membrane;Endoplasmic reticulum;Membrane NA 4 PE1 NX_Q6UW78 10081 93 9.39 11 Cytosol;Mitochondrion;Mitochondrion inner membrane;Nucleoplasm Mitochondrial complex III deficiency, nuclear 9 1 PE1 NX_Q6UW88 17091 154 6.5 4 Cytosol;Secreted;Nucleus;Nucleus membrane;Membrane NA 1 PE1 NX_Q6UWB1 69474 636 5.48 19 Membrane NA 1 PE1 NX_Q6UWB4 38856 352 7.49 8 Cytosol;Membrane NA 1 PE1 NX_Q6UWD8 24360 224 5.97 16 Membrane NA 1 PE1 NX_Q6UWE0 83594 723 5.7 9 Cytosol;Cytoplasm Charcot-Marie-Tooth disease 2P 0 PE1 NX_Q6UWE3 10812 100 8.85 6 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q6UWF3 16618 145 5.21 17 Membrane NA 1 PE1 NX_Q6UWF5 12886 114 6.56 6 Membrane NA 2 PE4 NX_Q6UWF7 62263 544 9.03 11 Secreted NA 0 PE1 NX_Q6UWF9 19733 173 8.59 7 Secreted NA 0 PE1 NX_Q6UWH4 57552 519 9.75 4 Nucleoplasm;Nucleolus;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q6UWH6 22538 196 6.56 2 Cytosol;Nucleoplasm;Membrane NA 5 PE1 NX_Q6UWI2 32289 310 4.59 4 Cytoplasmic vesicle;Endosome;Cytosol;Cell membrane;Endosome membrane;Nucleus;Golgi apparatus membrane NA 1 PE1 NX_Q6UWI4 31375 295 7.89 13 Endoplasmic reticulum membrane;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 1 PE1 NX_Q6UWJ1 75598 677 6.47 13 Cytosol;Membrane NA 10 PE1 NX_Q6UWJ8 18403 174 6.63 1 Cytosol;Cell membrane;Membrane NA 1 PE1 NX_Q6UWK7 9173 81 10.54 10 Secreted NA 0 PE1 NX_Q6UWL2 82710 747 6.02 9 Nucleoplasm;Membrane NA 1 PE1 NX_Q6UWL6 75092 708 6.48 19 Cytoplasm;Nucleus;Cell membrane;Microtubule organizing center NA 1 PE1 NX_Q6UWM5 27151 242 8.57 12 Membrane raft;Cell membrane;Acrosome NA 0 PE1 NX_Q6UWM7 65088 567 8.17 15 Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum NA 1 PE1 NX_Q6UWM9 60254 527 8.15 4 Membrane NA 1 PE1 NX_Q6UWN0 26763 246 8.76 19 Cell membrane NA 0 PE1 NX_Q6UWN5 26936 251 6.98 19 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 NX_Q6UWN8 8585 80 8.74 5 Secreted NA 0 PE1 NX_Q6UWP2 28308 260 6.17 17 Cytosol;Golgi apparatus;Secreted NA 0 PE1 NX_Q6UWP7 48920 414 8.83 2 Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum NA 4 PE1 NX_Q6UWP8 60541 590 6.5 19 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q6UWQ5 16654 148 8.35 10 Secreted NA 0 PE2 NX_Q6UWQ7 13248 119 7.4 19 Nucleoplasm;Cell membrane;Secreted NA 0 PE2 NX_Q6UWR7 50241 440 8.07 4 Cell membrane;Golgi apparatus NA 0 PE1 NX_Q6UWS5 9223 81 10.1 20 Mitochondrion NA 0 PE1 NX_Q6UWT2 7927 76 5.38 9 Secreted NA 0 PE2 NX_Q6UWT4 9693 87 4.67 5 Mitochondrion;Nucleus speckle;Secreted NA 0 PE1 NX_Q6UWU2 74158 654 9.01 2 Secreted NA 0 PE1 NX_Q6UWU4 39870 347 6.36 6 Cytoplasm;Nucleolus;Golgi apparatus membrane;Midbody NA 1 PE1 NX_Q6UWV2 25989 235 8.12 11 Golgi apparatus;Membrane NA 1 PE1 NX_Q6UWV6 51494 458 6.39 17 Cell membrane NA 1 PE1 NX_Q6UWV7 20306 190 4.94 1 Membrane NA 2 PE2 NX_Q6UWW0 20454 184 4.8 9 Secreted NA 0 PE1 NX_Q6UWW8 62282 571 5.41 16 Endoplasmic reticulum lumen;Endoplasmic reticulum;Nucleus membrane NA 0 PE1 NX_Q6UWW9 16116 146 4.95 3 Membrane NA 1 PE1 NX_Q6UWX4 80779 724 9.21 1 Mitochondrion;Cytosol;Secreted NA 0 PE1 NX_Q6UWY0 61450 536 9.02 5 Cytoplasmic vesicle;Nucleus;Secreted NA 0 PE1 NX_Q6UWY2 30334 283 9.56 19 Cytoplasmic granule lumen;Secreted NA 0 PE1 NX_Q6UWY5 45951 402 8.29 11 Secreted NA 0 PE1 NX_Q6UWZ7 46663 409 6.58 4 Nucleus Breast cancer 0 PE1 NX_Q6UX01 55209 489 8.39 12 Cell membrane NA 9 PE1 NX_Q6UX04 53847 472 5.6 5 Nucleoplasm;Nucleus Retinitis pigmentosa with or without skeletal anomalies 0 PE1 NX_Q6UX06 57280 510 5.5 13 Mitochondrion;Extracellular space NA 0 PE1 NX_Q6UX07 40849 377 7.63 17 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q6UX15 43108 382 4.85 11 Cytosol;Membrane NA 1 PE1 NX_Q6UX27 26109 236 4.98 19 Cytoplasmic vesicle;Membrane;Secreted NA 1 PE1 NX_Q6UX34 12073 121 4.11 2 Cytoplasm;Extracellular matrix;Nucleus;Nucleolus;Membrane NA 1 PE2 NX_Q6UX39 21588 209 5.29 4 Secreted Amelogenesis imperfecta 3B 0 PE1 NX_Q6UX40 15503 140 6.05 17 Nucleoplasm;Midbody ring;Midbody;Cytosol;Membrane;Cilium Orofaciodigital syndrome 16;Meckel syndrome 13 4 PE1 NX_Q6UX41 56748 500 8.38 5 Membrane NA 1 PE1 NX_Q6UX46 16915 152 9.75 2 Secreted NA 0 PE1 NX_Q6UX52 29091 265 8.93 17 Secreted NA 0 PE1 NX_Q6UX53 27775 244 8.71 12 Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 NX_Q6UX65 29766 266 8.2 1 Photoreceptor inner segment;Cytoplasmic vesicle;Lysosome membrane;Apical cell membrane;Golgi apparatus Cone-rod dystrophy 21 6 PE1 NX_Q6UX68 75014 686 6.21 8 Membrane NA 5 PE1 NX_Q6UX71 59583 529 5.99 10 Nucleus;Membrane NA 1 PE1 NX_Q6UX72 43751 402 9.33 16 Nucleolus;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q6UX73 45391 402 5.82 16 Secreted NA 0 PE1 NX_Q6UX82 25265 237 5.48 1 Cell membrane;Secreted NA 0 PE1 NX_Q6UX98 30176 284 9.01 11 Cytoplasmic vesicle;Cytosol;Membrane NA 5 PE1 NX_Q6UXA7 34195 325 7.88 6 Extracellular matrix NA 0 PE1 NX_Q6UXB0 36108 335 4.49 3 Nucleolus;Nucleus;Secreted NA 0 PE2 NX_Q6UXB1 14198 125 8.97 19 Secreted NA 0 PE1 NX_Q6UXB2 13819 119 10.97 19 Secreted NA 0 PE1 NX_Q6UXB3 13115 125 5.69 8 Cell membrane NA 0 PE2 NX_Q6UXB4 32562 293 6.15 19 Cell membrane NA 1 PE1 NX_Q6UXB8 49471 463 5.24 6 Secreted NA 0 PE1 NX_Q6UXC1 131499 1216 5.66 9 Cytosol;Nucleoplasm;Membrane NA 1 PE1 NX_Q6UXD1 13183 115 12.13 9 Nucleoplasm;Membrane NA 1 PE2 NX_Q6UXD5 97560 910 4.8 16 Endoplasmic reticulum membrane;Cell membrane NA 1 PE1 NX_Q6UXD7 58427 560 6.45 4 Membrane NA 12 PE1 NX_Q6UXE8 52251 466 5.84 5 Membrane NA 1 PE1 NX_Q6UXF1 59948 575 9.62 3 Axon;Endosome membrane;Nucleolus;Cytosol;Early endosome;Cell membrane;Cytoplasmic vesicle;Dendrite;Membrane;Postsynaptic density NA 2 PE1 NX_Q6UXF7 50490 455 8.39 16 Endosome;Endoplasmic reticulum;Golgi apparatus;Secreted NA 0 PE2 NX_Q6UXG2 111382 1013 6.13 1 Lysosome membrane;Late endosome membrane;trans-Golgi network membrane;Cell membrane NA 1 PE1 NX_Q6UXG3 36060 332 5.68 17 Apical cell membrane;Basolateral cell membrane;Multivesicular body membrane NA 1 PE1 NX_Q6UXG8 59716 535 6 5 Cytoplasmic vesicle;Nucleus membrane;Membrane NA 1 PE1 NX_Q6UXH0 22105 198 7.08 19 Nucleoplasm;Golgi apparatus;Secreted Diabetes mellitus, insulin-dependent;Diabetes mellitus, non-insulin-dependent 0 PE1 NX_Q6UXH1 38192 353 4.5 22 Endoplasmic reticulum;Secreted NA 0 PE1 NX_Q6UXH8 44103 406 7.74 18 Cytosol;Cell membrane;Secreted Hennekam lymphangiectasia-lymphedema syndrome 1 0 PE1 NX_Q6UXH9 80199 720 7.57 11 Secreted NA 0 PE1 NX_Q6UXI7 73930 678 9.29 2 Extracellular matrix NA 0 PE1 NX_Q6UXI9 61907 565 8.74 4 Cytosol;Nucleus;Cell junction;Extracellular matrix NA 0 PE1 NX_Q6UXK2 78990 745 5.17 15 Cell membrane NA 1 PE1 NX_Q6UXK5 80716 716 5.77 3 Membrane NA 1 PE1 NX_Q6UXL0 35076 311 4.98 3 Cytosol;Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q6UXM1 123434 1119 5.79 12 Cytosol;Cytoplasmic vesicle membrane;Cell membrane NA 1 PE1 NX_Q6UXN2 21924 200 8.87 6 Secreted NA 0 PE2 NX_Q6UXN7 17700 152 8.87 14 Mitochondrion outer membrane NA 1 PE1 NX_Q6UXN8 27324 241 6.42 12 Membrane NA 1 PE1 NX_Q6UXN9 35079 313 7.59 3 Nucleolus;Nucleus NA 0 PE1 NX_Q6UXP3 13608 125 8.46 3 Membrane NA 2 PE5 NX_Q6UXP7 31367 276 5.6 5 Cytosol NA 0 PE1 NX_Q6UXP9 19777 181 9.67 15 NA NA 0 PE5 NX_Q6UXQ4 13321 117 9.57 2 Secreted NA 0 PE3 NX_Q6UXQ8 13410 127 11.87 15 Secreted NA 0 PE5 NX_Q6UXR4 34864 307 5.95 14 Secreted NA 0 PE5 NX_Q6UXR6 19530 183 6.19 9 Secreted NA 0 PE5 NX_Q6UXR8 12794 122 7.65 19 NA NA 0 PE5 NX_Q6UXS0 15448 136 6.17 16 Secreted NA 0 PE2 NX_Q6UXS9 38907 341 5.63 11 NA NA 0 PE1 NX_Q6UXT8 14269 129 10.6 8 Secreted NA 0 PE1 NX_Q6UXT9 51771 468 7.57 17 Cytosol;Nucleoplasm;Secreted NA 0 PE1 NX_Q6UXU0 14541 137 10.84 19 Secreted NA 0 PE2 NX_Q6UXU4 36774 331 6.59 16 Synapse;Cell membrane NA 4 PE1 NX_Q6UXU6 17229 159 5.48 17 Nucleoplasm;Membrane NA 1 PE1 NX_Q6UXV0 44518 394 8.28 6 Cell membrane NA 1 PE1 NX_Q6UXV1 24856 221 9.07 19 Membrane NA 1 PE1 NX_Q6UXV3 16883 157 5.18 22 Secreted NA 0 PE2 NX_Q6UXV4 29159 268 9.55 X Mitochondrion;Mitochondrion inner membrane NA 2 PE1 NX_Q6UXX5 143187 1313 9.1 X Secreted NA 0 PE1 NX_Q6UXX9 28315 243 9.42 8 Secreted Humerofemoral hypoplasia with radiotibial ray deficiency;Tetraamelia syndrome 2 0 PE1 NX_Q6UXY1 58987 529 9.53 22 Cytoplasmic vesicle membrane;Cell junction;Cell membrane NA 0 PE1 NX_Q6UXY8 114797 1006 8.46 16 Nucleus;Cell membrane;Membrane NA 10 PE1 NX_Q6UXZ0 29185 262 8.07 17 Mitochondrion;Cytoplasm;Cell membrane NA 1 PE1 NX_Q6UXZ3 21558 194 9.12 17 Cell membrane NA 1 PE1 NX_Q6UXZ4 105880 953 5.71 8 Cell membrane NA 1 PE1 NX_Q6UY01 61489 552 5.71 3 NA NA 0 PE1 NX_Q6UY09 65808 596 5.49 19 Microvillus membrane;Apical cell membrane NA 1 PE2 NX_Q6UY11 40548 383 6.09 6 Nucleus;Membrane NA 1 PE1 NX_Q6UY13 10734 95 9.78 2 Secreted NA 0 PE3 NX_Q6UY14 116545 1074 8.79 1 Cytosol;Cell membrane;Extracellular matrix Ectopia lentis 2, isolated, autosomal recessive;Ectopia lentis et pupillae 0 PE1 NX_Q6UY18 63774 593 8.53 1 Membrane NA 1 PE2 NX_Q6UY27 13015 113 6.91 11 Secreted NA 0 PE1 NX_Q6UYE1 23924 221 7.77 13 NA NA 0 PE2 NX_Q6V0I7 542687 4981 4.77 4 Cytosol;Membrane Hennekam lymphangiectasia-lymphedema syndrome 2;Van Maldergem syndrome 2 1 PE1 NX_Q6V0L0 57111 522 9.24 10 Membrane Focal facial dermal dysplasia 4 1 PE1 NX_Q6V1P9 322234 2916 4.63 4 Cytoplasmic vesicle;Cell membrane;Membrane NA 1 PE1 NX_Q6V1X1 103358 898 5.52 15 Cytosol;Cytoplasm NA 0 PE1 NX_Q6V702 26869 233 5.28 4 Cytosol;Cell membrane NA 0 PE1 NX_Q6V9R5 48563 426 8.76 19 Nucleus NA 0 PE1 NX_Q6VAB6 107632 950 8.95 12 Cytoplasm;Membrane NA 0 PE1 NX_Q6VB84 45820 417 9.82 9 Nucleus NA 0 PE2 NX_Q6VEQ5 50312 465 5.53 2 Centriole;Recycling endosome membrane;Early endosome membrane;Late endosome;Autophagosome NA 0 PE2 NX_Q6VMQ6 136394 1270 4.58 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6VN20 67257 620 6.29 16 Cytosol;Nucleus NA 0 PE1 NX_Q6VUC0 46212 442 8.64 1 Nucleus NA 0 PE2 NX_Q6VVB1 42293 395 6.99 6 Cytoplasmic vesicle;Nucleus;Endoplasmic reticulum Epilepsy, progressive myoclonic 2 0 PE1 NX_Q6VVX0 57359 501 7.25 11 Endoplasmic reticulum membrane;Microsome membrane Rickets vitamin D-dependent 1B 0 PE1 NX_Q6VY07 104898 963 7.6 11 Cytosol;Cytoskeleton;trans-Golgi network Schuurs-Hoeijmakers syndrome 0 PE1 NX_Q6W0C5 17851 159 8.86 12 Cytoplasm;Nucleus NA 0 PE1 NX_Q6W2J9 192189 1755 6.06 X Nucleus Microphthalmia, syndromic, 2 0 PE1 NX_Q6W349 10157 94 5.34 4 NA NA 0 PE5 NX_Q6W3E5 71996 623 9.16 11 Membrane NA 6 PE2 NX_Q6W4X9 257051 2439 7.22 11 Secreted NA 0 PE1 NX_Q6W5P4 42687 371 8.63 7 Cytoplasm;Cell membrane Asthma-related traits 2 7 PE1 NX_Q6WBX8 47832 426 6.47 12 NA NA 0 PE1 NX_Q6WCQ1 116533 1025 5.89 17 Cytosol;Cytoskeleton NA 0 PE1 NX_Q6WKZ4 137167 1283 5.3 8 Cytoplasmic vesicle;Phagosome membrane;Recycling endosome NA 0 PE1 NX_Q6WN34 47495 429 8.23 11 Mitochondrion;Cytoplasm;Secreted NA 0 PE1 NX_Q6WQI6 10305 88 8.04 11 Cytoplasm;Golgi apparatus NA 0 PE5 NX_Q6WRI0 290838 2623 9.25 3 Nucleoplasm;Cytoskeleton;Secreted NA 0 PE1 NX_Q6WRX3 85808 759 8.3 1 Nucleus NA 0 PE1 NX_Q6X4T0 14485 127 8.66 12 NA NA 0 PE2 NX_Q6X4U4 23307 206 9.81 7 Secreted NA 0 PE1 NX_Q6X4W1 60143 530 9.19 9 Nucleus matrix;Synaptosome;Synapse;Nucleus membrane;Nucleoplasm;Cytoplasm;Cell cortex;Nucleus envelope;Cell membrane;Dendrite;Nucleus;Membrane;Postsynaptic density;Cytoskeleton Hypogonadotropic hypogonadism 9 with or without anosmia 0 PE1 NX_Q6X784 38652 338 8.04 17 Acrosome;Secreted NA 0 PE1 NX_Q6X9E4 53056 464 7.85 3 NA NA 0 PE1 NX_Q6XCG6 11455 107 7.94 1 NA NA 0 PE4 NX_Q6XD76 19253 172 9.23 12 Nucleus NA 0 PE1 NX_Q6XE24 47840 437 8.12 3 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q6XE38 9201 83 9.14 11 Secreted NA 0 PE1 NX_Q6XLA1 11902 102 8.53 10 NA NA 0 PE2 NX_Q6XPR3 90731 784 6.42 1 Extracellular matrix NA 0 PE1 NX_Q6XPS3 61112 522 8.8 13 Endoplasmic reticulum membrane;Cytoplasm NA 3 PE1 NX_Q6XQN6 57578 538 5.51 8 Cytosol;Nucleus;Golgi apparatus NA 0 PE1 NX_Q6XR72 52684 485 6.28 1 Recycling endosome;trans-Golgi network;Cell membrane;Early endosome Hypermanganesemia with dystonia 1 6 PE1 NX_Q6XUX3 105206 929 6.29 1 Nucleus speckle;Apical cell membrane;Basolateral cell membrane;Cytoplasm;Cell membrane;Cytoskeleton;Cell junction Congenital anomalies of the kidney and urinary tract 1;Spastic paraplegia 23 0 PE1 NX_Q6XXX2 15753 140 9.79 21 NA NA 0 PE5 NX_Q6XYB7 21482 198 8.95 2 Nucleus;Midbody NA 0 PE2 NX_Q6XYQ8 59127 523 7.57 12 Nucleoplasm;Cytoplasmic vesicle;Secretory vesicle membrane NA 1 PE1 NX_Q6XZB0 52922 460 9.18 21 Membrane;Secreted Hypertriglyceridemia, familial 0 PE1 NX_Q6XZF7 177347 1577 5.26 10 Synapse;Nucleolus;Golgi apparatus;Cytosol;Cytoplasm;Nucleus;Golgi stack;Cytoskeleton NA 0 PE1 NX_Q6Y1H2 28368 254 9.56 3 Endoplasmic reticulum membrane NA 6 PE1 NX_Q6Y288 56564 498 7.23 13 Endoplasmic reticulum membrane Peters-plus syndrome 1 PE1 NX_Q6Y2X3 78569 702 8.37 12 Endoplasmic reticulum membrane NA 3 PE1 NX_Q6Y7W6 150070 1299 5.45 2 Cytosol Parkinson disease 11 0 PE1 NX_Q6YBV0 56157 504 6.6 11 Cytosol;Cell membrane;Golgi apparatus;Membrane NA 10 PE1 NX_Q6YFQ2 10529 88 9.21 19 Cytosol;Nucleoplasm;Cell membrane;Mitochondrion intermembrane space NA 0 PE1 NX_Q6YHK3 161689 1445 5.59 6 Cell membrane;Endoplasmic reticulum NA 0 PE1 NX_Q6YHU6 219607 1953 5.71 2 Cytosol NA 0 PE1 NX_Q6YI46 39665 380 8.78 8 Endoplasmic reticulum;Membrane NA 6 PE1 NX_Q6YN16 45395 418 8.07 9 Mitochondrion;Peroxisome NA 0 PE1 NX_Q6YP21 51400 454 8.4 1 Cytosol;Nucleolus NA 0 PE1 NX_Q6ZMB0 42748 384 7.65 11 Golgi apparatus membrane NA 1 PE1 NX_Q6ZMB5 45777 413 8.4 7 Endosome;Nucleoplasm;Early endosome membrane;Cell membrane;Perinuclear region;Cytoplasmic vesicle membrane;Secretory vesicle membrane NA 7 PE1 NX_Q6ZMC9 35653 328 8.86 18 Nucleoplasm;Golgi apparatus;Membrane NA 1 PE1 NX_Q6ZMD2 54769 512 6.14 17 Membrane NA 12 PE1 NX_Q6ZMG9 44890 384 7.56 2 Endoplasmic reticulum membrane;Nucleus;Nucleus membrane NA 5 PE1 NX_Q6ZMH5 56461 540 6.33 12 Cytosol;Cytoplasmic vesicle;Basolateral cell membrane;Nucleoplasm Myopia 24, autosomal dominant 6 PE1 NX_Q6ZMI0 88314 780 6.4 2 Cytoplasmic vesicle NA 0 PE1 NX_Q6ZMI3 58957 551 8.1 15 Axon;Secreted;Cell membrane;Extracellular matrix Lethal congenital contracture syndrome 11 1 PE1 NX_Q6ZMJ2 53994 495 6.65 8 Cell membrane NA 1 PE1 NX_Q6ZMJ4 27482 242 6.82 16 Secreted NA 0 PE1 NX_Q6ZMK1 40703 362 6.87 8 Nucleoplasm;Cytoplasm;Perinuclear region NA 0 PE1 NX_Q6ZMM2 53193 481 8.59 19 Secreted;Golgi apparatus;Extracellular matrix NA 0 PE1 NX_Q6ZMN7 117103 1036 5.61 12 NA NA 0 PE1 NX_Q6ZMN8 40622 369 8.07 5 Cytosol;Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q6ZMP0 112450 1018 7.94 15 Nucleolus;Nucleus;Extracellular matrix NA 0 PE1 NX_Q6ZMQ8 144569 1374 4.48 17 Mitochondrion;Cytoplasm;Perinuclear region;Membrane NA 1 PE1 NX_Q6ZMR3 36507 332 6.51 11 Cytoplasm NA 0 PE1 NX_Q6ZMR5 47569 421 9.32 4 Membrane NA 1 PE1 NX_Q6ZMS4 62084 543 8.45 3 Nucleus NA 0 PE1 NX_Q6ZMS7 31422 281 4.9 7 Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q6ZMT1 45009 411 7.03 17 Cytosol;Cytoplasmic vesicle;Cell membrane;Sarcolemma;Nucleoplasm NA 0 PE1 NX_Q6ZMT4 106557 941 8.34 7 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q6ZMT9 88329 781 6.81 4 NA NA 0 PE2 NX_Q6ZMU1 40197 363 6.32 19 NA NA 0 PE5 NX_Q6ZMU5 52731 477 6.05 16 Cytoplasmic vesicle membrane;Nucleolus;Nucleus;Sarcolemma NA 0 PE1 NX_Q6ZMV5 95804 832 4.72 X NA NA 0 PE1 NX_Q6ZMV7 45158 388 6.29 3 NA NA 0 PE2 NX_Q6ZMV8 59040 503 9.48 19 Nucleus NA 0 PE2 NX_Q6ZMV9 92569 814 6.47 6 Cytoskeleton;Centrosome NA 0 PE1 NX_Q6ZMW2 80904 699 9.21 9 Mitochondrion;Nucleus NA 0 PE1 NX_Q6ZMW3 217899 1958 7.17 2 Mitochondrion;Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 NX_Q6ZMY3 130027 1216 6.82 1 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q6ZMY6 52621 472 6.98 19 Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q6ZMY9 54711 492 9.26 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6ZMZ0 77925 732 5.81 1 Endoplasmic reticulum membrane;Cytosol;Cytoplasmic granule membrane NA 2 PE1 NX_Q6ZMZ3 112216 975 5.88 14 Rough endoplasmic reticulum;Nucleus envelope;Nucleus membrane;Nucleus outer membrane NA 1 PE1 NX_Q6ZN01 44632 415 6.57 19 Nucleus speckle;Nucleus NA 0 PE2 NX_Q6ZN03 32374 302 9.1 21 NA NA 0 PE5 NX_Q6ZN04 58832 569 6.44 15 P-body;Cytoplasmic granule;Cytosol;Cytoplasm;Nucleoplasm;Nucleus NA 0 PE1 NX_Q6ZN06 71721 617 9.5 19 Nucleus NA 0 PE1 NX_Q6ZN08 65874 573 9.46 19 Nucleus NA 0 PE5 NX_Q6ZN11 46927 406 9.48 19 Cytosol;Nucleolus;Nucleus NA 0 PE2 NX_Q6ZN16 147437 1313 5.42 X Cytoplasmic vesicle NA 0 PE1 NX_Q6ZN17 27084 250 9.15 6 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q6ZN18 54467 517 5.1 12 Nucleus NA 0 PE1 NX_Q6ZN19 93148 808 9.48 19 Nucleus NA 0 PE1 NX_Q6ZN28 96639 852 6.43 7 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 NX_Q6ZN30 122330 1099 6.07 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6ZN32 39948 361 9 1 Nucleus NA 0 PE2 NX_Q6ZN44 92932 842 6.33 5 Cytosol;Cell projection;Membrane raft;Cell membrane NA 1 PE1 NX_Q6ZN54 58710 512 6.09 16 Nucleoplasm;Cytosol NA 0 PE1 NX_Q6ZN55 98900 896 8.44 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6ZN57 52740 461 8.91 5 Nucleus NA 0 PE1 NX_Q6ZN66 72427 633 5.98 1 NA NA 0 PE1 NX_Q6ZN68 43060 376 8.74 7 Endoplasmic reticulum;Membrane NA 6 PE5 NX_Q6ZN79 34734 300 9.36 12 Nucleus NA 0 PE2 NX_Q6ZN84 76084 652 9.25 11 Centrosome;Cell membrane NA 0 PE1 NX_Q6ZN92 15492 141 7.06 9 NA NA 0 PE5 NX_Q6ZNA1 107717 936 9.39 19 Nucleus NA 0 PE1 NX_Q6ZNA4 108862 994 6.67 15 Cytosol;PML body;Nucleus;Cytoplasm NA 0 PE1 NX_Q6ZNA5 66114 592 7.11 1 Membrane NA 7 PE1 NX_Q6ZNB5 15763 142 8.53 11 Nucleolus NA 0 PE5 NX_Q6ZNB6 101339 911 8.85 4 Nucleoplasm;Membrane NA 1 PE1 NX_Q6ZNB7 51500 445 7.75 7 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 5 PE1 NX_Q6ZNC4 45276 412 8.8 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6ZNC8 56557 495 9.33 6 Mitochondrion;Membrane NA 9 PE1 NX_Q6ZNE5 55309 492 6.59 14 Endoplasmic reticulum membrane;Autophagosome membrane;Preautophagosomal structure membrane;Cytoplasm NA 0 PE1 NX_Q6ZNE9 64350 571 6.44 2 Autophagosome NA 0 PE1 NX_Q6ZNF0 50480 438 9.3 19 Secreted NA 0 PE1 NX_Q6ZNG0 48503 422 8.64 3 Nucleus;Centrosome NA 0 PE1 NX_Q6ZNG1 83124 722 9.4 19 Nucleus NA 0 PE1 NX_Q6ZNG2 36555 339 9.47 12 Nucleus NA 0 PE2 NX_Q6ZNG9 56205 492 5.67 17 Nucleoplasm NA 0 PE1 NX_Q6ZNH5 54721 498 9.27 19 Nucleus;Cell junction NA 0 PE1 NX_Q6ZNI0 49319 430 8.93 20 Golgi apparatus membrane NA 1 PE2 NX_Q6ZNJ1 302517 2754 5.95 3 Endoplasmic reticulum Gray platelet syndrome 0 PE1 NX_Q6ZNK6 17888 161 6.96 5 NA NA 0 PE1 NX_Q6ZNL6 159891 1462 4.93 3 Cytoskeleton;Golgi apparatus;Endoplasmic reticulum;Ruffle membrane;Early endosome NA 0 PE1 NX_Q6ZNM6 15452 134 9.3 5 NA NA 0 PE1 NX_Q6ZNQ3 39592 347 8.89 8 Cell membrane NA 0 PE1 NX_Q6ZNR0 18162 172 4.96 19 Membrane NA 2 PE2 NX_Q6ZNW5 42362 385 6.01 15 Cytosol;Cytoplasm NA 0 PE1 NX_Q6ZNX1 28842 250 9.18 5 Nucleoplasm;Nucleolus;Chromosome NA 0 PE1 NX_Q6ZP01 117985 1051 5.48 2 Cytoplasm NA 0 PE1 NX_Q6ZP29 31947 291 8.23 1 Cytoplasmic vesicle;Lysosome membrane NA 7 PE1 NX_Q6ZP65 64841 573 4.93 12 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Centrosome NA 0 PE1 NX_Q6ZP68 13416 121 8.66 13 NA NA 0 PE2 NX_Q6ZP80 25879 229 6.42 2 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 3 PE1 NX_Q6ZP82 166261 1450 5.41 2 Nucleoplasm;Cytoplasm;Centrosome NA 0 PE1 NX_Q6ZP98 14599 133 10.17 16 NA NA 0 PE2 NX_Q6ZPA2 13472 131 6.7 19 NA NA 0 PE2 NX_Q6ZPB5 16112 146 8.99 6 Membrane NA 2 PE1 NX_Q6ZPD8 38593 337 9.87 X Endoplasmic reticulum membrane NA 2 PE2 NX_Q6ZPD9 83197 716 8.94 19 Cytoskeleton;Membrane NA 12 PE1 NX_Q6ZQN5 32979 318 8.93 10 Nucleus NA 0 PE2 NX_Q6ZQN7 78948 724 7.67 5 Basolateral cell membrane NA 12 PE1 NX_Q6ZQQ2 175618 1576 9.07 9 Membrane NA 1 PE1 NX_Q6ZQQ6 333185 2873 6.94 19 NA NA 0 PE1 NX_Q6ZQR2 36499 320 10.26 9 Cytosol;Cilium NA 0 PE1 NX_Q6ZQT0 15498 140 7.4 4 NA NA 0 PE5 NX_Q6ZQT7 25248 251 10.23 10 NA NA 0 PE2 NX_Q6ZQV5 9552 82 4.56 19 Nucleus NA 0 PE5 NX_Q6ZQW0 47075 420 6.39 8 NA NA 0 PE1 NX_Q6ZQX7 49656 453 7.79 17 Cytosol;Nucleolus NA 0 PE1 NX_Q6ZQY2 41621 392 5.01 22 NA NA 0 PE2 NX_Q6ZQY3 59246 521 5.98 3 Cytosol;Cell membrane NA 0 PE1 NX_Q6ZQY7 14345 126 9.3 15 NA NA 0 PE2 NX_Q6ZR03 31336 302 7.13 21 NA NA 0 PE2 NX_Q6ZR08 356942 3092 5.85 3 Cilium axoneme NA 0 PE1 NX_Q6ZR37 44301 379 8.55 12 NA NA 0 PE2 NX_Q6ZR52 75342 646 9.44 19 Nucleus NA 0 PE1 NX_Q6ZR54 19406 194 10.93 22 NA NA 0 PE5 NX_Q6ZR62 34685 310 5.5 X Cytosol;Nucleus;Cell membrane NA 0 PE2 NX_Q6ZR85 19931 190 6.91 17 Nucleus NA 0 PE2 NX_Q6ZR98 28560 269 9.17 3 Secreted NA 0 PE5 NX_Q6ZRC1 30622 276 5.57 4 NA NA 0 PE2 NX_Q6ZRF7 15513 136 10.24 19 Nucleus NA 0 PE5 NX_Q6ZRF8 70861 634 6.21 1 Cytosol;Cytoplasm NA 0 PE1 NX_Q6ZRG5 24122 221 4.39 17 NA NA 0 PE5 NX_Q6ZRH7 133032 1159 5.95 19 Cytosol;Nucleolus;Nucleus;Membrane NA 1 PE1 NX_Q6ZRI0 314794 2925 5.57 11 Extracellular space;Apical cell membrane Deafness, autosomal recessive, 18B 0 PE1 NX_Q6ZRI6 110673 1047 7.72 15 Cytosol NA 0 PE1 NX_Q6ZRI8 61664 547 9.48 X Cytoplasmic vesicle;Nucleus;Cell membrane NA 0 PE1 NX_Q6ZRK6 124154 1079 5.42 11 NA NA 0 PE1 NX_Q6ZRM9 21770 215 9.15 7 NA NA 0 PE2 NX_Q6ZRN7 21161 208 11.78 16 NA NA 0 PE2 NX_Q6ZRP0 27805 262 4.48 3 NA NA 0 PE2 NX_Q6ZRP5 25262 223 11.34 4 NA NA 0 PE5 NX_Q6ZRP7 77529 698 7.64 9 Nucleus membrane;Golgi apparatus;Secreted;Nucleoplasm;Cell membrane;Membrane NA 1 PE1 NX_Q6ZRQ5 142321 1243 6.72 6 Nucleoplasm;Nucleus NA 0 PE1 NX_Q6ZRR5 27859 245 8.83 11 Cytosol;Cytoplasmic vesicle;Membrane NA 6 PE2 NX_Q6ZRR7 166911 1453 7.66 14 NA NA 0 PE2 NX_Q6ZRR9 72753 648 9.05 11 Spindle;Midbody ring;Midbody NA 0 PE1 NX_Q6ZRS2 343555 3230 5.69 16 Nucleoplasm;Cytoplasm;Nucleus Floating-Harbor syndrome 0 PE1 NX_Q6ZRS4 115403 1044 5.18 7 Nucleoplasm NA 0 PE2 NX_Q6ZRT6 28269 265 4.65 3 NA NA 0 PE2 NX_Q6ZRU5 16879 148 9.72 17 Secreted NA 0 PE5 NX_Q6ZRV2 127122 1179 6.52 8 Cytosol;Cytoskeleton Amelogenesis imperfecta 3A 0 PE1 NX_Q6ZRV3 16900 163 4.89 3 NA NA 0 PE5 NX_Q6ZRX8 18969 168 10.14 12 NA NA 0 PE5 NX_Q6ZRY4 22497 209 8.63 15 Cytoplasm NA 0 PE1 NX_Q6ZRZ4 22306 202 10.08 9 Secreted NA 0 PE2 NX_Q6ZS02 23740 220 8.42 15 NA NA 0 PE5 NX_Q6ZS10 42935 378 4.6 19 Membrane NA 1 PE1 NX_Q6ZS11 62466 566 5.59 19 Cytoplasmic vesicle;Nucleoplasm;Ruffle NA 0 PE1 NX_Q6ZS17 132308 1223 5.87 16 Cytosol;Cytoplasm;Golgi apparatus NA 0 PE1 NX_Q6ZS27 48496 426 7.76 3 Nucleus NA 0 PE1 NX_Q6ZS30 307237 2694 6.01 2 Nucleoplasm;Cytosol NA 0 PE1 NX_Q6ZS46 22150 218 10.58 6 NA NA 0 PE5 NX_Q6ZS49 13061 121 9.78 17 NA NA 0 PE5 NX_Q6ZS52 17352 159 10.74 6 NA NA 0 PE5 NX_Q6ZS62 13401 124 4.47 11 Membrane NA 1 PE2 NX_Q6ZS72 50509 473 8.86 19 NA NA 0 PE1 NX_Q6ZS81 353610 3184 5.9 10 Cytosol;Nucleoplasm;Membrane NA 2 PE1 NX_Q6ZS82 25148 235 6.84 19 Membrane Prolonged electroretinal response suppression 1 PE1 NX_Q6ZS86 59156 529 6.48 3 Nucleoplasm;Cytosol NA 0 PE1 NX_Q6ZS92 18106 163 9.99 4 NA NA 0 PE5 NX_Q6ZS94 24356 237 11.59 1 NA NA 0 PE2 NX_Q6ZSA7 33009 298 5.55 11 Cell membrane NA 1 PE1 NX_Q6ZSA8 13825 131 11.82 19 NA NA 0 PE5 NX_Q6ZSB3 15654 139 7.82 2 NA NA 0 PE5 NX_Q6ZSB9 85061 765 6.52 4 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Nucleoplasm NA 0 PE1 NX_Q6ZSC3 40666 357 9.67 2 Nucleolus;Nucleus NA 0 PE1 NX_Q6ZSG1 39526 346 8.19 18 Nucleus;Cell membrane NA 0 PE1 NX_Q6ZSG2 52909 479 8.23 10 Postsynaptic density NA 0 PE1 NX_Q6ZSI9 81037 719 5.95 19 Nucleoplasm;Focal adhesion NA 0 PE2 NX_Q6ZSJ8 11471 110 6.29 1 NA NA 0 PE1 NX_Q6ZSJ9 55764 500 9.44 17 Postsynaptic density;Membrane NA 1 PE1 NX_Q6ZSK4 15188 140 9.61 11 NA NA 0 PE5 NX_Q6ZSM3 56498 516 8.64 10 Mitochondrion;Cell membrane Cataract 47 12 PE1 NX_Q6ZSN1 16659 163 11.74 9 NA NA 0 PE2 NX_Q6ZSR3 17863 168 8.77 15 Mitochondrion NA 0 PE5 NX_Q6ZSR6 22955 202 6.09 16 NA NA 0 PE2 NX_Q6ZSR9 37976 355 5.14 2 NA NA 0 PE1 NX_Q6ZSS3 49205 439 9.16 3 Nucleus speckle;Nucleus NA 0 PE1 NX_Q6ZSS7 88088 791 5.35 2 Cytosol;Nucleoplasm;Cytoskeleton;Membrane NA 12 PE1 NX_Q6ZST2 14410 131 9.53 4 NA NA 0 PE2 NX_Q6ZST4 17784 164 8.42 9 NA NA 0 PE2 NX_Q6ZSU1 16683 146 6.27 19 NA NA 0 PE5 NX_Q6ZSV7 16907 163 8.74 6 NA NA 0 PE2 NX_Q6ZSY5 82798 799 4.5 X Nucleoplasm;Membrane NA 1 PE1 NX_Q6ZSZ5 151642 1361 5.98 19 Cytosol;Cytoplasm;Cytoskeleton;Apical cell membrane;Cell membrane Retinitis pigmentosa 78 0 PE1 NX_Q6ZSZ6 117916 1077 6.62 18 Nucleoplasm;Nucleus Aural atresia, congenital 0 PE1 NX_Q6ZT07 143229 1266 5.18 4 Nucleoplasm;Cytosol NA 0 PE1 NX_Q6ZT12 212433 1888 5.74 2 Nucleolus;Nucleus;Membrane NA 3 PE1 NX_Q6ZT21 49453 453 6.43 3 Nucleoplasm;Mitochondrion;Membrane NA 5 PE1 NX_Q6ZT52 36776 329 10.36 1 Cytosol NA 0 PE1 NX_Q6ZT62 73599 677 5.13 22 Cytosol;Cell membrane NA 0 PE1 NX_Q6ZT77 20580 177 10.14 19 Nucleus NA 0 PE5 NX_Q6ZT83 14355 130 10.52 18 NA NA 0 PE2 NX_Q6ZT89 33440 311 8.95 5 Cytoskeleton;Mitochondrion inner membrane NA 6 PE1 NX_Q6ZT98 102999 887 9.36 1 Cytosol;Dendrite;Perikaryon;Cilium;Cilium basal body NA 0 PE1 NX_Q6ZTA4 83823 783 7.08 1 Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q6ZTB9 21749 187 8.93 19 NA NA 0 PE5 NX_Q6ZTC4 22100 211 10.68 20 NA NA 0 PE2 NX_Q6ZTI0 12888 123 10 11 NA NA 0 PE5 NX_Q6ZTI6 23610 216 8.75 12 Nucleoplasm;Cytoskeleton;Golgi apparatus NA 0 PE1 NX_Q6ZTK2 61934 550 9.07 16 NA NA 0 PE2 NX_Q6ZTN6 58476 518 5.26 11 Mitochondrion;Late endosome;Nucleus;Cell membrane NA 0 PE1 NX_Q6ZTQ3 43384 369 8.79 4 Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q6ZTQ4 97977 885 5.26 7 Nucleolus;Cell membrane NA 1 PE1 NX_Q6ZTR5 361625 3187 7.55 X NA NA 0 PE1 NX_Q6ZTR6 17236 163 10.37 18 NA NA 0 PE2 NX_Q6ZTR7 34755 304 8.84 16 Centriole;Cilium basal body NA 0 PE1 NX_Q6ZTU2 51753 488 6.76 12 NA NA 0 PE5 NX_Q6ZTW0 31275 290 9.26 19 Flagellum axoneme;Axon;Dendrite;Cilium axoneme;Flagellum basal body;Centrosome;Cilium basal body NA 0 PE1 NX_Q6ZTY9 16773 151 9.48 7 NA NA 0 PE2 NX_Q6ZTZ1 31632 278 8.99 4 NA NA 0 PE2 NX_Q6ZU15 50025 432 5.87 7 Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q6ZU35 136760 1233 5.5 4 Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q6ZU45 44255 400 6.37 1 NA NA 0 PE2 NX_Q6ZU52 79163 694 8.64 6 Cytosol;Nucleoplasm NA 0 PE1 NX_Q6ZU64 217250 1925 6.07 2 Flagellum membrane NA 1 PE1 NX_Q6ZU65 146089 1347 9.24 7 Nucleoplasm NA 0 PE1 NX_Q6ZU67 58375 534 5.75 4 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q6ZU69 148096 1335 8.62 9 Membrane NA 1 PE1 NX_Q6ZU80 128015 1094 6.11 14 Cytosol;Centriole;Microtubule organizing center;Centrosome;Spindle pole NA 0 PE1 NX_Q6ZUA9 149091 1318 7.63 8 NA NA 0 PE2 NX_Q6ZUB0 102306 917 8.2 9 Membrane NA 1 PE2 NX_Q6ZUB1 157136 1445 9.29 9 Membrane NA 1 PE1 NX_Q6ZUF6 20903 198 11.57 6 NA NA 0 PE5 NX_Q6ZUG5 66039 572 6.81 3 NA NA 0 PE1 NX_Q6ZUI0 31230 275 6.61 3 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q6ZUJ4 30194 267 5.36 3 Nucleus speckle NA 0 PE1 NX_Q6ZUJ8 90398 805 5.25 10 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q6ZUK4 41672 368 6.4 10 Membrane NA 8 PE1 NX_Q6ZUL3 24736 223 9.59 8 NA NA 0 PE2 NX_Q6ZUM4 98396 889 5.4 17 Cytosol;Cytoplasm;Nucleus;Membrane NA 0 PE1 NX_Q6ZUS5 33061 278 9.84 2 Cytosol;Cytoskeleton NA 0 PE1 NX_Q6ZUS6 52796 474 5.92 4 Nucleolus NA 0 PE1 NX_Q6ZUT1 34110 292 9.73 11 Cytosol NA 0 PE1 NX_Q6ZUT3 81614 714 8.05 X Cell projection;Growth cone Nystagmus congenital X-linked 1 0 PE1 NX_Q6ZUT4 14221 128 9.39 12 NA NA 0 PE5 NX_Q6ZUT6 57325 534 9.31 15 Nucleoplasm;Cytosol NA 0 PE1 NX_Q6ZUT9 145020 1274 6.29 12 Cytoskeleton;Nucleolus;Membrane NA 1 PE1 NX_Q6ZUU3 18625 175 11.34 3 Nucleolus NA 0 PE2 NX_Q6ZUV0 28164 252 6.71 4 Cytoplasm NA 0 PE5 NX_Q6ZUX3 111153 1019 9.51 2 NA NA 0 PE1 NX_Q6ZUX7 24486 228 6.06 5 Cytoplasmic vesicle;Cytoskeleton;Membrane NA 4 PE1 NX_Q6ZV29 145705 1317 7.77 9 Microsome membrane;Lysosome membrane;Nucleus membrane;Cytosol;Microtubule organizing center;Membrane;Mitochondrion membrane NA 1 PE1 NX_Q6ZV50 66266 586 5.75 2 Nucleoplasm;Nucleus NA 0 PE2 NX_Q6ZV56 16313 151 6.5 22 NA NA 0 PE5 NX_Q6ZV60 16386 143 9.92 12 NA NA 0 PE5 NX_Q6ZV65 45662 393 9.47 4 Cytosol;Cell membrane NA 0 PE2 NX_Q6ZV70 46319 420 6.71 X Mitochondrion NA 0 PE1 NX_Q6ZV73 160816 1430 6.61 12 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q6ZV77 20001 190 6.99 9 NA NA 0 PE2 NX_Q6ZV80 14825 131 9.55 2 NA NA 0 PE2 NX_Q6ZV89 46797 423 8.89 1 Cytosol;Postsynaptic density NA 0 PE1 NX_Q6ZVC0 87928 841 9.72 7 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_Q6ZVD7 110962 989 7.82 10 Nucleolus;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Centrosome Pre-eclampsia/eclampsia 4 0 PE1 NX_Q6ZVD8 146751 1323 5.45 16 Cytoplasmic vesicle;Cytoplasm;Nucleus;Membrane NA 0 PE1 NX_Q6ZVE7 14887 132 10.38 1 Golgi apparatus membrane NA 4 PE1 NX_Q6ZVF9 82439 776 7.52 4 Nucleolus;Nucleus NA 0 PE1 NX_Q6ZVH6 15831 145 8.23 11 NA NA 0 PE2 NX_Q6ZVH7 108132 1005 6.01 2 Stereocilium NA 0 PE1 NX_Q6ZVK1 26378 233 5.07 14 Mitochondrion;Membrane NA 4 PE1 NX_Q6ZVK8 35501 323 5.83 8 Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q6ZVL6 198999 1849 8.32 11 Nucleoplasm;Membrane NA 1 PE1 NX_Q6ZVL8 15891 140 9.03 16 NA NA 0 PE2 NX_Q6ZVM7 55556 507 4.69 17 Cytoskeleton;Golgi apparatus NA 0 PE1 NX_Q6ZVN7 14085 128 9.69 7 NA NA 0 PE2 NX_Q6ZVN8 45080 426 7.57 1 Cell membrane Hemochromatosis 2A 0 PE1 NX_Q6ZVQ6 17006 151 11.05 19 NA NA 0 PE2 NX_Q6ZVS7 16193 135 8.06 7 Cilium basal body NA 0 PE5 NX_Q6ZVT0 75042 673 9.36 1 NA NA 0 PE1 NX_Q6ZVT6 76271 689 5.09 3 Golgi apparatus NA 0 PE2 NX_Q6ZVU0 18168 165 9.05 11 NA NA 0 PE5 NX_Q6ZVW7 37514 336 8.74 22 NA NA 0 PE1 NX_Q6ZVX7 30847 275 6.16 19 Mitochondrion;Cytoplasm NA 0 PE1 NX_Q6ZVX9 42692 377 8.92 3 Cell membrane NA 7 PE1 NX_Q6ZVZ8 50803 466 6.49 2 NA NA 0 PE2 NX_Q6ZW05 96371 846 8.84 6 Cytosol;Cell membrane;Membrane NA 12 PE1 NX_Q6ZW13 33511 317 5.29 16 NA NA 0 PE1 NX_Q6ZW31 79793 735 8.72 19 Cytosol;Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q6ZW33 77277 695 8.64 11 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm NA 0 PE1 NX_Q6ZW35 18328 169 7 1 NA NA 0 PE2 NX_Q6ZW49 121341 1069 6.24 7 Cytoplasmic vesicle;Nucleoplasm;Nucleus matrix;Chromosome NA 0 PE1 NX_Q6ZW61 79085 710 5.8 4 Cilium Bardet-Biedl syndrome 12 0 PE1 NX_Q6ZW76 72038 656 5.31 16 Nucleoplasm;Cytosol NA 0 PE1 NX_Q6ZWB6 52440 473 8.6 4 Cytoplasmic vesicle;Postsynaptic cell membrane;Presynaptic cell membrane NA 0 PE1 NX_Q6ZWC4 22988 215 9.32 19 NA NA 0 PE5 NX_Q6ZWE6 87166 761 6.69 2 Cytoplasmic vesicle;Cytoplasm;Cytosol;Golgi apparatus;Cell membrane NA 0 PE1 NX_Q6ZWH5 133259 1172 6.35 3 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 NX_Q6ZWI9 29922 263 5.52 6 NA NA 0 PE2 NX_Q6ZWJ1 61662 553 5.12 17 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q6ZWJ8 166935 1568 5.5 7 Secreted NA 0 PE1 NX_Q6ZWK4 19405 172 4.76 1 Cell membrane NA 1 PE1 NX_Q6ZWK6 49410 438 9.33 4 Membrane NA 1 PE2 NX_Q6ZWL3 60724 525 7.19 4 Endoplasmic reticulum membrane;Nucleus speckle Bietti crystalline corneoretinal dystrophy 1 PE1 NX_Q6ZWT7 59527 520 8.3 2 Cytoplasmic vesicle;Membrane NA 9 PE1 NX_Q6ZXV5 104009 915 9.03 12 Endoplasmic reticulum;Membrane Lissencephaly 8 9 PE1 NX_Q6ZYL4 8053 71 4.5 6 Nucleus Trichothiodystrophy 3, photosensitive 0 PE1 NX_Q701N2 21409 237 8.39 11 NA NA 0 PE2 NX_Q701N4 16271 177 8.31 11 NA NA 0 PE1 NX_Q702N8 198561 1843 5.78 3 Cytoskeleton;Nucleus;Cell junction NA 0 PE1 NX_Q709C8 422390 3753 6.38 15 Cytoskeleton;Mitochondrion outer membrane Parkinson disease 23, autosomal recessive, early onset 0 PE1 NX_Q709F0 87264 780 8.23 3 Mitochondrion;Peroxisome NA 0 PE1 NX_Q70CQ1 79198 688 9.37 6 Nucleus NA 0 PE1 NX_Q70CQ2 404233 3546 5.51 2 Cytoplasm;Nucleus NA 0 PE1 NX_Q70CQ3 58503 517 8.57 12 Mitochondrion outer membrane NA 1 PE1 NX_Q70CQ4 146651 1352 9.35 16 Cytosol NA 0 PE1 NX_Q70E73 135256 1250 8.97 2 Cytosol;Cell membrane;Nucleus;Filopodium;Lamellipodium;Cytoskeleton NA 0 PE1 NX_Q70EK8 120806 1073 7.54 4 Nucleoplasm;Tight junction;Golgi apparatus NA 0 PE1 NX_Q70EK9 79756 711 8.73 X Cytosol;Nucleolus;Chromosome NA 0 PE1 NX_Q70EL1 187388 1684 6.89 10 Mitochondrion NA 0 PE1 NX_Q70EL2 91733 814 8.32 6 Cytosol;Nucleus NA 0 PE1 NX_Q70EL3 38955 339 6.31 15 NA NA 0 PE2 NX_Q70EL4 122809 1123 9.35 17 NA NA 0 PE1 NX_Q70HW3 29354 274 9.39 3 Mitochondrion;Mitochondrion inner membrane Combined oxidative phosphorylation deficiency 28 6 PE1 NX_Q70IA6 26927 237 6.3 11 Cytosol;Perinuclear region;Nucleolus;Nucleus NA 0 PE1 NX_Q70IA8 25623 216 9.01 1 NA NA 0 PE1 NX_Q70J99 123282 1090 6.19 17 Late endosome;Lysosome;Cytosol;Cytoplasm;Cytoplasmic vesicle;Membrane;Recycling endosome Familial hemophagocytic lymphohistiocytosis 3 0 PE1 NX_Q70JA7 100284 882 8.91 5 Golgi stack membrane NA 1 PE1 NX_Q70SY1 57415 520 5.3 7 Endoplasmic reticulum membrane;Nucleoplasm;Nucleus;Endoplasmic reticulum NA 1 PE1 NX_Q70UQ0 39309 350 9.21 12 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 NX_Q70YC4 24036 216 8.19 10 NA Uric acid nephrolithiasis 0 PE2 NX_Q70YC5 46542 407 9.3 10 Cytoplasmic vesicle;Centrosome;Microtubule organizing center NA 0 PE1 NX_Q70Z35 182622 1606 7.26 8 Endoplasmic reticulum NA 0 PE1 NX_Q70Z44 50191 454 9.02 3 Cell membrane NA 4 PE1 NX_Q70Z53 37548 315 8.25 10 Nucleus NA 0 PE1 NX_Q711Q0 156477 1435 5.98 10 Z line NA 0 PE1 NX_Q712K3 27166 238 4.26 9 Nucleolus;Nucleus NA 0 PE1 NX_Q717R9 16393 158 6.76 2 Cilium membrane;Cilium axoneme NA 0 PE1 NX_Q719H9 29405 257 6.61 18 Nucleus Scalp-ear-nipple syndrome 0 PE1 NX_Q719I0 33806 299 6.98 2 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE5 NX_Q71DI3 15388 136 11.27 1 Nucleus;Chromosome NA 0 PE1 NX_Q71F23 47522 418 9.18 4 Kinetochore;Cytoplasm;Nucleus;Microtubule organizing center NA 0 PE1 NX_Q71F56 242602 2210 5.67 12 Nucleus;Golgi apparatus Transposition of the great arteries dextro-looped 1;Mental retardation and distinctive facial features with or without cardiac defects 0 PE1 NX_Q71F78 17306 164 9.33 X NA NA 0 PE2 NX_Q71H61 71200 639 8.43 1 Endoplasmic reticulum membrane NA 1 PE1 NX_Q71RC2 80596 724 6.2 12 Cytosol;Cytoplasm;Stress granule;Nucleus NA 0 PE1 NX_Q71RC9 8540 77 8.24 17 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 1 PE1 NX_Q71RG4 33788 321 4.92 17 Cytosol;Cytoplasmic vesicle;Endoplasmic reticulum;Membrane NA 3 PE1 NX_Q71RG6 21376 208 9.25 8 Secreted NA 0 PE5 NX_Q71RH2 30629 274 9.12 16 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum NA 4 PE1 NX_Q71RS6 54888 500 5.77 15 Melanosome;trans-Golgi network membrane Albinism, oculocutaneous, 6 11 PE1 NX_Q71SY5 78171 747 8.61 19 Nucleoplasm;Cytoplasm;Nucleus Basel-Vanagaite-Smirin-Yosef syndrome;Charcot-Marie-Tooth disease 2B2 0 PE1 NX_Q71U36 50136 451 4.94 12 Cytoskeleton Lissencephaly 3 0 PE1 NX_Q71UI9 13509 128 10.58 7 Nucleus;Chromosome NA 0 PE1 NX_Q71UM5 9477 84 9.57 15 NA NA 0 PE1 NX_Q75L30 13422 129 9.14 7 NA NA 0 PE5 NX_Q75LS8 15591 142 4.29 7 NA NA 0 PE5 NX_Q75MW2 17236 155 9.66 7 NA NA 0 PE5 NX_Q75N03 54519 491 8.57 7 Nucleoplasm;Nucleus speckle;Cytoplasm NA 0 PE1 NX_Q75N90 300356 2809 4.92 19 Extracellular matrix NA 0 PE1 NX_Q75NE6 8163 70 9.26 13 Membrane Feingold syndrome 2 1 PE5 NX_Q75QN2 113088 995 6.65 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q75T13 105383 922 9.14 2 Endoplasmic reticulum membrane Mental retardation, autosomal recessive 42 7 PE1 NX_Q75V66 107188 913 6.37 11 Endoplasmic reticulum membrane;Cell membrane Gnathodiaphyseal dysplasia;Limb-girdle muscular dystrophy 2L;Miyoshi muscular dystrophy 3 8 PE1 NX_Q75VX8 92882 874 6.48 2 Cytosol NA 0 PE1 NX_Q75WM6 28116 255 11.77 12 Nucleus;Chromosome NA 0 PE1 NX_Q765I0 13749 119 6.11 3 Mitochondrion;Secreted NA 0 PE3 NX_Q765P7 79929 747 7.18 16 Cytoplasm;Focal adhesion;Ruffle NA 0 PE1 NX_Q76B58 88445 766 8.06 1 Mitochondrion;Secreted NA 0 PE1 NX_Q76EJ3 36673 337 8.89 9 Golgi apparatus membrane;Golgi apparatus NA 8 PE1 NX_Q76FK4 131616 1167 6.67 9 Nucleolus NA 0 PE1 NX_Q76G19 86171 769 5.8 X Cell cortex NA 0 PE1 NX_Q76I76 158216 1423 5.26 17 Cytoskeleton NA 0 PE1 NX_Q76KD6 62399 591 8.31 8 Cytoplasm;Centrosome NA 0 PE1 NX_Q76KP1 116513 1039 6.51 11 Nucleoplasm;Golgi stack membrane;Cytoskeleton;Spindle NA 1 PE1 NX_Q76KX8 77167 674 9.42 19 Nucleus NA 0 PE2 NX_Q76L83 153820 1435 9 2 Nucleoplasm;Nucleus Shashi-Pena syndrome 0 PE1 NX_Q76LX8 153604 1427 6.96 9 Secreted Thrombotic thrombocytopenic purpura congenital 0 PE1 NX_Q76M96 108174 950 9.72 3 Extracellular matrix NA 0 PE1 NX_Q76MJ5 102480 926 6.73 16 Endoplasmic reticulum membrane NA 1 PE1 NX_Q76N32 81102 757 5.04 2 Nucleus;Centrosome;Microtubule organizing center NA 0 PE1 NX_Q76N89 179554 1606 5.33 7 Cytosol;Cytoplasm NA 0 PE1 NX_Q76NI1 191397 1749 5.83 10 Dendrite;Perikaryon NA 0 PE1 NX_Q7KYR7 59633 527 6.08 6 Cell membrane;Membrane NA 1 PE1 NX_Q7KZ85 199073 1726 4.81 17 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q7KZF4 101997 910 6.74 7 Cytosol;Cytoplasm;Nucleus;Melanosome NA 0 PE1 NX_Q7KZI7 87911 788 9.73 11 Nucleoplasm;Cytoplasm;Cell membrane;Dendrite;Cytoskeleton;Lateral cell membrane NA 0 PE1 NX_Q7KZN9 46030 410 9.85 10 Mitochondrion;Mitochondrion membrane Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2;Leigh syndrome 8 PE1 NX_Q7L014 117362 1031 9.33 5 Nucleus speckle;Membrane;Nucleus;Cajal body NA 0 PE1 NX_Q7L099 52965 469 5.36 4 Perikaryon;Cytosol;Cytoplasm;Endomembrane system;Filopodium;Invadopodium;Lamellipodium;Cell projection;Growth cone NA 0 PE1 NX_Q7L0J3 82695 742 5.38 1 Cytosol;Synaptic vesicle membrane;Synapse;Endoplasmic reticulum NA 12 PE1 NX_Q7L0L9 23184 218 10.99 1 Membrane NA 2 PE2 NX_Q7L0Q8 28218 258 8.39 1 Golgi apparatus membrane;Focal adhesion;Podosome;Cell membrane NA 0 PE1 NX_Q7L0R7 47728 432 6.4 5 Nucleoplasm NA 0 PE2 NX_Q7L0X0 88723 811 9.7 7 Membrane NA 1 PE1 NX_Q7L0X2 75255 663 4.87 3 NA NA 0 PE1 NX_Q7L0Y3 47347 403 9.4 3 Mitochondrion;Mitochondrion nucleoid;Nucleoplasm Combined oxidative phosphorylation deficiency 30 0 PE1 NX_Q7L190 33541 304 9.57 3 Nucleolus;Nucleus NA 0 PE1 NX_Q7L1I2 77444 683 5.26 15 Synaptic vesicle membrane;Acrosome NA 12 PE1 NX_Q7L1Q6 48043 419 5.75 2 Cytoplasmic vesicle NA 0 PE1 NX_Q7L1S5 52055 443 9.41 18 Golgi apparatus membrane;Secreted NA 1 PE1 NX_Q7L1T6 59474 521 7.6 6 Endoplasmic reticulum NA 0 PE1 NX_Q7L1V2 59217 547 5.88 16 Cytosol NA 0 PE1 NX_Q7L1W4 98201 858 7.76 1 Endoplasmic reticulum membrane;Nucleoplasm;Mitochondrion;Cell membrane NA 4 PE1 NX_Q7L211 38548 337 8.74 13 Cytosol;Membrane NA 1 PE1 NX_Q7L266 32055 308 5.84 11 Nucleoplasm;Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q7L273 42567 389 5.95 8 Cytosol;Nucleoplasm;Cytoskeleton NA 0 PE1 NX_Q7L2E3 133938 1194 8.99 3 Mitochondrion nucleoid;Mitochondrion;Cytosol;Cytoplasm Neurodevelopmental disorder with severe motor impairment and absent language 0 PE1 NX_Q7L2H7 42503 374 5.41 11 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q7L2J0 74355 689 9.62 7 Nucleoplasm;Cell junction NA 0 PE1 NX_Q7L2K0 46402 433 9.54 16 Nucleoplasm;Cell junction NA 0 PE1 NX_Q7L2R6 61633 523 8.92 19 Nucleus NA 0 PE1 NX_Q7L2Z9 30595 268 9.43 6 Nucleoplasm;Centromere;Nucleus NA 0 PE1 NX_Q7L311 65683 632 8.68 X Mitochondrion;Nucleus;Mitochondrion outer membrane NA 1 PE1 NX_Q7L3B6 38835 337 5.22 9 Cytosol;Cytoplasm NA 0 PE1 NX_Q7L3S4 35702 317 9.15 16 Nucleolus;Nucleus NA 0 PE1 NX_Q7L3T8 53263 475 8.45 1 Mitochondrion;Mitochondrion matrix;Nucleolus NA 0 PE1 NX_Q7L3V2 39299 364 4.93 22 Mitochondrion NA 0 PE1 NX_Q7L4E1 65531 593 5.62 9 Cytosol;Cell junction;Mitochondrion outer membrane NA 2 PE1 NX_Q7L4I2 50560 434 11.33 12 Cytosol;Cytoplasm;Nucleolus;Nucleus;Nucleus speckle NA 0 PE1 NX_Q7L4P6 48182 421 5.88 1 NA NA 0 PE1 NX_Q7L4S7 33019 300 4.69 X Nucleus membrane;Cytosol;Cytoplasm;Cell membrane;Mitochondrion outer membrane;Nucleus;Mitochondrion NA 1 PE1 NX_Q7L513 38927 359 5.22 1 Cytoplasm NA 0 PE1 NX_Q7L523 36566 313 7.62 9 Cytoplasm;Nucleus;Lysosome NA 0 PE1 NX_Q7L576 145182 1253 6.46 15 Synaptosome;Perinuclear region;Ruffle;Lamellipodium;Cytoplasm NA 0 PE1 NX_Q7L590 98183 875 8.96 10 Nucleolus;Nucleus NA 0 PE1 NX_Q7L591 53288 496 7.93 5 Cytoplasm;Cell membrane NA 0 PE1 NX_Q7L592 49238 441 8.47 2 Mitochondrion NA 0 PE1 NX_Q7L5A3 56690 538 9.09 9 Nucleolus;Nucleus NA 0 PE1 NX_Q7L5A8 42791 372 8.76 16 Endoplasmic reticulum membrane;Microsome membrane;Nucleus membrane Spastic paraplegia 35, autosomal recessive 4 PE1 NX_Q7L5D6 36504 327 5.29 7 Nucleoplasm;Cytosol;Nucleolus NA 0 PE1 NX_Q7L5L3 36596 318 8.13 16 Cytosol;Endoplasmic reticulum;Nucleoplasm;Perinuclear region;Membrane;Cytoskeleton NA 2 PE1 NX_Q7L5N1 36163 327 5.47 7 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q7L5N7 60208 544 6.14 16 Endoplasmic reticulum membrane;Lipid droplet;Golgi apparatus membrane;Endoplasmic reticulum NA 1 PE1 NX_Q7L5Y1 49786 443 6.03 18 Mitochondrion NA 0 PE1 NX_Q7L5Y6 63848 550 7.32 15 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q7L5Y9 45287 396 8.95 4 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus matrix;Cell membrane NA 0 PE1 NX_Q7L622 80504 706 7.9 14 Cytosol;Cytoplasmic vesicle;Nucleolus;Cytoplasm NA 0 PE1 NX_Q7L775 70370 607 5.77 3 Endoplasmic reticulum NA 0 PE1 NX_Q7L7L0 14121 130 11.05 1 Nucleus;Chromosome NA 0 PE1 NX_Q7L7V1 84419 743 4.88 10 Mitochondrion;Nucleus NA 0 PE1 NX_Q7L7X3 116070 1001 7.3 17 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q7L804 58279 512 9.33 10 Cytoplasmic vesicle;Nucleoplasm;Recycling endosome membrane;Cell membrane NA 0 PE1 NX_Q7L8A9 40957 365 9.5 14 Cytoplasm;Secreted NA 0 PE1 NX_Q7L8C5 46885 426 7.6 11 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 1 PE1 NX_Q7L8J4 43499 393 5.57 1 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_Q7L8L6 86574 764 8.41 20 Mitochondrion nucleoid NA 0 PE1 NX_Q7L8S5 33300 288 6.29 X NA NA 0 PE1 NX_Q7L8W6 30307 267 5.24 15 Nucleolus;Nucleus NA 0 PE1 NX_Q7L945 52853 461 9.18 19 Nucleolus;Nucleus NA 0 PE1 NX_Q7L985 68066 606 8.44 9 Membrane NA 1 PE1 NX_Q7L9B9 62403 569 8.64 7 Cytoplasmic vesicle;Nucleus speckle;Cell membrane NA 0 PE1 NX_Q7L9L4 25091 216 6.24 4 Cytoplasm;Nucleus NA 0 PE1 NX_Q7LBC6 191581 1761 6.78 5 Nucleoplasm;Nucleus NA 0 PE1 NX_Q7LBE3 86988 791 8.47 1 Nucleus;Cell junction;Membrane NA 13 PE1 NX_Q7LBR1 22109 199 7.81 18 Cytosol;Endosome;Late endosome membrane;Nucleus;Midbody NA 0 PE1 NX_Q7LC44 45316 396 5.45 8 Extracellular vesicle membrane;Synapse;Acrosome;Early endosome membrane;Cell cortex;Cytoplasmic vesicle;Dendrite;Postsynaptic cell membrane;Dendritic spine;Postsynaptic density;Cytoskeleton NA 0 PE1 NX_Q7LDG7 69248 609 7.89 11 Cytosol;Synaptosome;Cell membrane;Ruffle membrane Bleeding disorder, platelet-type 18 0 PE1 NX_Q7LDI9 74079 666 9.11 7 Cell membrane NA 0 PE1 NX_Q7LFL8 32977 322 9.27 5 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q7LFX5 64926 561 8.56 10 Cytosol;Golgi apparatus membrane;Centrosome NA 1 PE1 NX_Q7LG56 40737 351 4.89 8 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5;Mitochondrial DNA depletion syndrome 8B;Mitochondrial DNA depletion syndrome 8A 0 PE1 NX_Q7LGA3 41881 356 8.83 1 Mitochondrion;Golgi apparatus membrane NA 1 PE1 NX_Q7LGC8 54706 479 8.84 10 Cytosol;Golgi apparatus membrane;Golgi apparatus Spondyloepiphyseal dysplasia with congenital joint dislocations 1 PE1 NX_Q7M4L6 46768 423 6.01 15 Nucleus NA 0 PE1 NX_Q7RTM1 67353 612 8.71 4 Cell membrane NA 12 PE2 NX_Q7RTN6 48369 431 6.02 17 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q7RTP0 34562 329 8.7 15 Cell membrane;Early endosome Spastic paraplegia 6, autosomal dominant 9 PE1 NX_Q7RTP6 224295 2002 5.43 22 Cytosol;Cytoplasm;Cell cortex;Cell membrane;Nucleoplasm;Nucleus;Cytoskeleton;Cilium basal body;Midbody;Spindle NA 0 PE1 NX_Q7RTR0 113312 991 6.08 19 Cytoplasm;Inflammasome NA 0 PE1 NX_Q7RTR2 114658 1065 8.64 16 Cytosol;Cytoplasm;Microtubule organizing center NA 0 PE1 NX_Q7RTR8 36195 314 9.64 12 Nucleoplasm;Cytoskeleton;Focal adhesion;Membrane NA 7 PE2 NX_Q7RTS1 20818 189 11.26 7 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q7RTS3 34970 328 5.1 10 Nucleoplasm;Cytoplasm;Nucleus Pancreatic agenesis 2;Pancreatic and cerebellar agenesis 0 PE1 NX_Q7RTS5 66296 596 8.96 17 Cell membrane NA 12 PE1 NX_Q7RTS6 62236 562 7.04 17 Cell membrane NA 12 PE1 NX_Q7RTS7 57865 529 7.59 12 NA Ectodermal dysplasia 7, hair/nail type;Woolly hair autosomal dominant;Hypotrichosis 3 0 PE1 NX_Q7RTS9 75935 669 5.56 18 Cytoplasm;Golgi apparatus;Membrane Smith-McCort dysplasia 1;Dyggve-Melchior-Clausen syndrome 0 PE1 NX_Q7RTT3 21553 188 9.19 X NA NA 0 PE2 NX_Q7RTT4 21859 187 9.46 X NA NA 0 PE2 NX_Q7RTT5 21591 188 9.19 X NA NA 0 PE2 NX_Q7RTT6 21688 188 9.32 X NA NA 0 PE5 NX_Q7RTT9 58059 530 7.64 7 Cytoskeleton;Apical cell membrane;Cell membrane NA 10 PE1 NX_Q7RTU0 17516 167 10.24 8 Nucleus NA 0 PE3 NX_Q7RTU1 23309 214 11.33 2 Nucleus NA 0 PE2 NX_Q7RTU3 29358 272 9.54 6 Nucleus NA 0 PE1 NX_Q7RTU4 24132 235 11.21 17 Cytoplasm;Nucleus Camptosynpolydactyly, complex;Syndactyly, mesoaxial synostotic, with phalangeal reduction;Split-hand/foot malformation with long bone deficiency 3 0 PE1 NX_Q7RTU5 29462 278 8.71 1 Nucleus NA 0 PE3 NX_Q7RTU7 21596 201 10.17 8 Nucleus NA 0 PE3 NX_Q7RTU9 192967 1775 5.27 15 Kinocilium;Cell surface;Stereocilium Deafness, autosomal recessive, 16;Deafness-infertility syndrome 0 PE2 NX_Q7RTV0 12405 110 8.79 22 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_Q7RTV2 25722 222 7.74 6 Cytoplasm NA 0 PE1 NX_Q7RTV3 38411 350 8.07 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q7RTV5 24857 226 9.07 9 NA NA 0 PE1 NX_Q7RTW8 128533 1153 5.53 16 Apical cell membrane;Extracellular matrix Deafness, autosomal recessive, 22 0 PE1 NX_Q7RTX0 93386 852 6.75 1 Cell membrane NA 7 PE1 NX_Q7RTX1 93074 841 8.32 1 Cell membrane NA 7 PE2 NX_Q7RTX7 54092 472 5.15 1 Flagellum membrane NA 6 PE1 NX_Q7RTX9 56254 510 6.45 2 Cell membrane;Endoplasmic reticulum NA 12 PE2 NX_Q7RTY0 44992 426 6.44 17 Golgi apparatus membrane;Cell membrane;Golgi apparatus Diabetes mellitus, non-insulin-dependent 12 PE1 NX_Q7RTY1 55794 509 8.25 10 Nucleus;Cell junction;Cell membrane NA 12 PE1 NX_Q7RTY3 29329 260 8.42 3 NA NA 0 PE2 NX_Q7RTY5 35970 328 7.49 4 Secreted NA 0 PE2 NX_Q7RTY7 125066 1134 8.67 12 Secreted NA 0 PE1 NX_Q7RTY8 94415 843 8.84 3 Cell membrane NA 1 PE2 NX_Q7RTY9 35078 318 9.36 16 Cell membrane NA 0 PE1 NX_Q7RTZ1 62642 564 7.22 11 Secreted NA 0 PE1 NX_Q7RTZ2 59590 530 7.81 8 Nucleus;Endoplasmic reticulum NA 0 PE3 NX_Q7Z2D5 82983 763 9 1 Membrane NA 6 PE1 NX_Q7Z2E3 40740 356 9.27 9 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Ataxia-oculomotor apraxia syndrome 0 PE1 NX_Q7Z2F6 14454 126 4.9 16 Nucleoplasm;Cytosol NA 0 PE1 NX_Q7Z2G1 19618 175 10.69 X Chromosome;Nucleus membrane NA 0 PE1 NX_Q7Z2H8 53076 476 6.54 5 Lysosome membrane;Cell membrane;Endoplasmic reticulum NA 11 PE1 NX_Q7Z2K6 100231 904 7.2 9 Endoplasmic reticulum membrane;Nucleolus;Nucleus NA 9 PE1 NX_Q7Z2K8 102399 1008 8.33 5 Cytoplasmic vesicle;Growth cone;Cell membrane NA 0 PE1 NX_Q7Z2Q7 70301 622 9.02 5 Membrane NA 1 PE2 NX_Q7Z2R9 10995 100 12.15 1 Secreted NA 0 PE5 NX_Q7Z2T5 81747 733 8.11 1 Nucleolus;Nucleus NA 0 PE1 NX_Q7Z2V1 23111 217 6.41 16 NA NA 0 PE1 NX_Q7Z2W4 101431 902 8.72 7 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q7Z2W7 127685 1104 6.91 2 Endoplasmic reticulum membrane;Membrane raft;Cell membrane NA 6 PE1 NX_Q7Z2W9 22815 205 9.91 11 Nucleoplasm;Mitochondrion NA 0 PE1 NX_Q7Z2X4 28272 250 6.53 2 Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_Q7Z2X7 12090 111 4 X NA NA 0 PE1 NX_Q7Z2Y5 178479 1582 5.93 X Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q7Z2Y8 279048 2422 6.12 11 Cytosol;Nucleus NA 0 PE1 NX_Q7Z2Z1 210857 1910 9 15 Nucleoplasm;Nucleus NA 0 PE1 NX_Q7Z2Z2 125430 1120 5.66 15 Cytosol Shwachman-Diamond syndrome 2 0 PE1 NX_Q7Z304 77556 686 5.05 9 Nucleus speckle;Cell membrane;Endoplasmic reticulum;Extracellular matrix NA 0 PE1 NX_Q7Z309 26928 247 5.98 X Nucleoplasm;Nucleus NA 0 PE1 NX_Q7Z333 302880 2677 6.83 9 Nucleolus;Nucleoplasm;Cytoplasm;Telomere;Axon;Nucleus;Cytoskeleton;Growth cone;Chromosome Amyotrophic lateral sclerosis 4;Spinocerebellar ataxia, autosomal recessive, 1 0 PE1 NX_Q7Z340 77515 670 8.73 19 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_Q7Z353 77206 690 5.61 X Cytosol;Nucleus NA 0 PE1 NX_Q7Z388 83756 723 8.41 8 Cytoplasmic vesicle;Endoplasmic reticulum;Membrane NA 12 PE1 NX_Q7Z392 128881 1133 6.72 4 Nucleoplasm;cis-Golgi network;Golgi apparatus;Nucleus membrane Limb-girdle muscular dystrophy 2S 0 PE1 NX_Q7Z398 48381 422 8.95 19 Cytoplasmic vesicle;Cytoskeleton;Nucleus NA 0 PE1 NX_Q7Z3B0 8625 74 9.82 5 Membrane NA 1 PE1 NX_Q7Z3B1 38719 354 5.84 1 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q7Z3B3 121025 1105 9 17 Kinetochore;Nucleoplasm;Nucleus NA 0 PE1 NX_Q7Z3B4 55435 507 6.53 4 Nucleoplasm;Nuclear pore complex;Nucleus membrane NA 0 PE1 NX_Q7Z3C6 94447 839 6.19 2 Endoplasmic reticulum membrane;Autophagosome membrane;trans-Golgi network membrane;Endoplasmic reticulum;Cytoplasmic vesicle;Late endosome membrane NA 6 PE1 NX_Q7Z3D4 34538 306 5.62 5 Cytosol;Membrane NA 1 PE1 NX_Q7Z3D6 66437 616 6.32 14 Mitochondrion;Cytosol;Mitochondrion matrix NA 0 PE1 NX_Q7Z3E1 76227 657 6.19 3 Cytoskeleton;Nucleus NA 0 PE1 NX_Q7Z3E2 103687 898 5.94 10 Golgi apparatus NA 0 PE1 NX_Q7Z3E5 91819 818 5.83 2 Cytosol;Cytoplasm;Nucleolus;Cilium basal body Joubert syndrome 30 0 PE1 NX_Q7Z3F1 96919 870 6.42 2 Cytosol;Endosome;Nucleus;Membrane NA 17 PE1 NX_Q7Z3G6 95615 844 7.12 3 Cytoplasmic vesicle;Golgi apparatus;Nucleus membrane NA 0 PE1 NX_Q7Z3H0 49403 452 8.17 12 Cytosol;Nucleus NA 0 PE2 NX_Q7Z3H4 49112 446 6.32 3 Cytoplasm;Nucleus NA 0 PE1 NX_Q7Z3I7 61238 529 8.32 8 Nucleus speckle;Nucleus NA 0 PE1 NX_Q7Z3J2 109563 963 6.82 16 Mitochondrion;Cytoplasm;Membrane;Nucleus;Early endosome NA 1 PE1 NX_Q7Z3J3 197289 1758 5.9 2 NA NA 0 PE1 NX_Q7Z3K3 155344 1410 7.14 1 Nucleoplasm;Cytoplasm;Nucleus;Chromosome White-Sutton syndrome 0 PE1 NX_Q7Z3K6 61437 550 4.42 5 Nucleoplasm;Nucleus NA 0 PE1 NX_Q7Z3Q1 51519 461 5.56 13 Cytosol;Endosome;Cytoskeleton;Cell membrane;Membrane NA 11 PE1 NX_Q7Z3S7 127938 1137 5.18 12 Membrane Retinal cone dystrophy 4 1 PE1 NX_Q7Z3S9 25835 236 5.44 1 Cytoplasm;Secreted NA 0 PE1 NX_Q7Z3T1 34789 314 8.92 1 Cell membrane NA 7 PE2 NX_Q7Z3T8 168903 1539 4.67 5 Cytosol;Cytoplasm;Cytoplasmic vesicle;Early endosome membrane NA 0 PE1 NX_Q7Z3U7 190359 1717 5.72 12 Nucleoplasm;Nucleolus NA 0 PE1 NX_Q7Z3V4 123098 1068 8.51 12 Mitochondrion;Nucleus speckle Kaufman oculocerebrofacial syndrome 0 PE1 NX_Q7Z3V5 70792 609 8.71 19 Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_Q7Z3Y7 50567 464 5.33 17 Cytoplasm NA 0 PE1 NX_Q7Z3Y8 49822 459 4.98 17 Cytoplasm NA 0 PE1 NX_Q7Z3Y9 51911 468 4.86 17 NA NA 0 PE1 NX_Q7Z3Z0 49318 450 5 17 Cytoplasmic vesicle;Cytoplasm Woolly hair autosomal recessive 3 0 PE1 NX_Q7Z3Z2 22704 195 7.73 1 NA Leber congenital amaurosis 12 0 PE1 NX_Q7Z3Z3 101089 882 9.56 22 Cytoplasm NA 0 PE1 NX_Q7Z3Z4 96589 852 9.09 11 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 NX_Q7Z401 209244 1863 7.07 15 Nucleolus;Nucleus NA 0 PE1 NX_Q7Z402 83502 723 8.74 16 Cytoplasmic vesicle;Membrane NA 9 PE1 NX_Q7Z403 90045 805 8.98 17 Endoplasmic reticulum membrane Epidermodysplasia verruciformis 10 PE1 NX_Q7Z404 79208 712 9.16 19 Membrane NA 9 PE1 NX_Q7Z406 227871 1995 5.52 19 Nucleoplasm Deafness, autosomal dominant, 4A;Peripheral neuropathy, myopathy, hoarseness, and hearing loss 0 PE1 NX_Q7Z407 406000 3707 5.63 8 Cell membrane NA 2 PE1 NX_Q7Z408 380039 3487 5.69 1 Cell membrane NA 1 PE1 NX_Q7Z410 114021 1059 8.46 19 Cell membrane NA 1 PE1 NX_Q7Z412 33898 305 5.94 22 Peroxisome membrane Peroxisome biogenesis disorder 7B;Peroxisome biogenesis disorder 7A;Peroxisome biogenesis disorder complementation group 8 1 PE1 NX_Q7Z417 76121 695 8.7 17 Cytosol;Cytoplasm;Stress granule;Nucleus;Nucleoplasm NA 0 PE1 NX_Q7Z418 43671 384 6.6 10 Cell membrane Migraine with or without aura 13 4 PE1 NX_Q7Z419 33697 303 7.62 6 Mitochondrion;Cytoplasm;Nucleolus;Mitochondrion membrane NA 1 PE1 NX_Q7Z422 16997 152 8.92 1 Nucleoplasm;Cytosol NA 0 PE1 NX_Q7Z429 41203 371 5.21 8 Cytosol;Nucleolus;Membrane NA 7 PE1 NX_Q7Z434 56528 540 5.36 20 Mitochondrion;Peroxisome;Mitochondrion outer membrane NA 1 PE1 NX_Q7Z442 272514 2459 5.51 16 Membrane NA 12 PE1 NX_Q7Z443 195894 1732 8.78 16 Cell membrane NA 12 PE1 NX_Q7Z444 25287 233 6.1 X Cell membrane NA 0 PE1 NX_Q7Z449 61987 544 8.63 4 Endoplasmic reticulum membrane;Microsome membrane;Cytoplasmic vesicle;Golgi apparatus;Nucleoplasm Spastic paraplegia 56, autosomal recessive 5 PE1 NX_Q7Z460 169451 1538 9.14 2 Kinetochore;Cytoskeleton;Spindle;Centrosome;trans-Golgi network NA 0 PE1 NX_Q7Z465 39713 357 5.26 1 Cytosol NA 0 PE1 NX_Q7Z478 155236 1369 8.3 5 Cytosol;Cytoplasm NA 0 PE1 NX_Q7Z494 150864 1330 6.31 3 Cilium Meckel syndrome 7;Nephronophthisis 3;Renal-hepatic-pancreatic dysplasia 1 0 PE1 NX_Q7Z4B0 12600 112 9.98 18 Secreted NA 0 PE5 NX_Q7Z4F1 76193 713 5.3 14 Coated pit;Nucleolus;Nucleus;Membrane NA 1 PE1 NX_Q7Z4G1 9638 85 5.69 13 Cytoplasm;Nucleus NA 0 PE1 NX_Q7Z4G4 53421 463 7.65 6 Nucleus NA 0 PE1 NX_Q7Z4H3 23390 204 5.33 6 Nucleolus;Nucleus NA 0 PE1 NX_Q7Z4H4 15865 148 11.81 22 Secreted NA 0 PE2 NX_Q7Z4H7 108621 955 6.04 9 Nucleus speckle;Cytosol;Cytoskeleton;Microtubule organizing center;Spindle;Centrosome NA 0 PE1 NX_Q7Z4H8 58572 507 8.42 11 Cytoplasmic vesicle;Nucleoplasm;Endoplasmic reticulum lumen NA 0 PE1 NX_Q7Z4H9 28021 259 8.86 7 Cytoplasmic vesicle;Nucleus NA 0 PE2 NX_Q7Z4I7 38916 341 8.44 2 Focal adhesion;Nucleus;Cell membrane Limb-girdle muscular dystrophy 2W 0 PE1 NX_Q7Z4J2 32608 276 9.26 9 Membrane NA 1 PE5 NX_Q7Z4K8 83424 759 7.99 1 Axon;Cytosol;Cytoskeleton NA 0 PE1 NX_Q7Z4L0 8129 72 12.08 14 Mitochondrion inner membrane NA 1 PE2 NX_Q7Z4L5 150937 1316 6.53 2 Mitochondrion;Cilium axoneme Joubert syndrome 11;Short-rib thoracic dysplasia 4 with or without polydactyly;Nephronophthisis 12 0 PE1 NX_Q7Z4L9 35480 309 8.79 8 Cytoskeleton;Centrosome NA 0 PE2 NX_Q7Z4M0 29155 266 5.48 15 NA NA 0 PE1 NX_Q7Z4N2 182178 1603 6.4 15 Cytosol;Nucleoplasm;Cell membrane Night blindness, congenital stationary, 1C 9 PE1 NX_Q7Z4N8 61126 544 6.05 11 Endoplasmic reticulum lumen NA 0 PE1 NX_Q7Z4P5 46950 450 9.9 2 Secreted NA 0 PE1 NX_Q7Z4Q2 74583 680 5.02 16 Cytosol;Nucleus NA 0 PE1 NX_Q7Z4R8 20772 191 4.75 6 Secreted NA 0 PE1 NX_Q7Z4S6 187179 1674 6.05 12 Cytosol;Cytoskeleton;Cell membrane Fibrosis of extraocular muscles, congenital, 1 0 PE1 NX_Q7Z4S9 19279 175 9.18 2 NA NA 0 PE1 NX_Q7Z4T8 51427 443 8.88 7 Late endosome membrane NA 1 PE1 NX_Q7Z4T9 89955 767 8.73 3 Mitochondrion;Cytoplasm;Cilium axoneme NA 0 PE1 NX_Q7Z4U5 16243 140 10.39 6 NA NA 0 PE2 NX_Q7Z4V0 91836 828 9.49 10 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q7Z4V5 74317 671 7.11 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q7Z4W1 25913 244 8.33 17 Cytoskeleton;Nucleolus;Membrane Pentosuria 0 PE1 NX_Q7Z4W2 16656 148 8.04 10 Secreted NA 0 PE1 NX_Q7Z4W3 8247 81 8.57 21 NA NA 0 PE3 NX_Q7Z4Y8 11037 100 9.91 22 Mitochondrion membrane NA 0 PE5 NX_Q7Z553 107436 956 6.88 14 Cell membrane NA 0 PE1 NX_Q7Z569 67305 592 5.64 12 Cytosol;Cytoplasm;Nucleus membrane NA 0 PE1 NX_Q7Z570 136888 1209 8.19 2 Endoplasmic reticulum NA 0 PE2 NX_Q7Z572 52207 469 6.74 1 Cytosol;Cytoplasmic vesicle NA 0 PE2 NX_Q7Z589 141468 1322 9.37 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q7Z591 155139 1439 5.91 9 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q7Z5A4 32006 293 6.93 3 Secreted NA 0 PE2 NX_Q7Z5A7 14301 132 9.32 22 Secreted NA 0 PE1 NX_Q7Z5A8 14776 133 8.71 1 Secreted NA 0 PE2 NX_Q7Z5A9 14901 133 8.49 3 Endoplasmic reticulum;Secreted NA 0 PE1 NX_Q7Z5B4 41092 369 5.04 11 Endoplasmic reticulum membrane;Golgi apparatus membrane NA 1 PE1 NX_Q7Z5D8 22750 188 9.73 12 Nucleus NA 0 PE2 NX_Q7Z5G4 15824 137 6.6 8 Golgi apparatus membrane NA 0 PE1 NX_Q7Z5H3 76779 698 8.4 10 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 NX_Q7Z5H4 40779 357 9.35 1 Cell membrane NA 7 PE2 NX_Q7Z5H5 33557 301 9.58 19 Cell membrane NA 7 PE2 NX_Q7Z5J1 34288 315 9.76 19 Cytoplasmic vesicle;Secreted NA 0 PE2 NX_Q7Z5J4 203352 1906 9.03 17 Nucleoplasm;Cytoplasm;Nucleus Smith-Magenis syndrome 0 PE1 NX_Q7Z5J8 162026 1434 8.39 2 Microtubule organizing center;Nucleus;Membrane NA 1 PE1 NX_Q7Z5K2 132946 1190 5.27 10 Cytoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q7Z5L0 21534 202 4.9 17 Secreted NA 0 PE1 NX_Q7Z5L2 87883 792 5.05 10 Nucleoplasm;Nucleus speckle NA 0 PE1 NX_Q7Z5L3 29468 287 5.5 2 Secreted NA 0 PE1 NX_Q7Z5L4 19186 167 6.44 11 Mitochondrion outer membrane NA 0 PE1 NX_Q7Z5L7 68976 613 6.51 1 Cytoplasm;Extracellular matrix NA 0 PE1 NX_Q7Z5L9 61025 587 9 1 Nucleoplasm;Cytoplasm;Nucleus Immunodeficiency, common variable, 14 0 PE1 NX_Q7Z5M5 125685 1100 9.28 15 Cytosol;Membrane NA 10 PE2 NX_Q7Z5M8 40776 362 8.57 14 Nucleus NA 0 PE2 NX_Q7Z5N4 242112 2213 5.99 7 Cytosol;Synapse;Cell membrane NA 1 PE1 NX_Q7Z5P4 33655 300 9.14 4 Cytoplasmic vesicle;Golgi apparatus;Secreted NA 0 PE1 NX_Q7Z5P9 805253 8384 4.97 12 Secreted NA 0 PE1 NX_Q7Z5Q1 64944 589 6.78 4 Cytosol;Cytoplasm NA 0 PE1 NX_Q7Z5Q5 100307 900 8.57 4 Nucleoplasm;Nucleus NA 0 PE1 NX_Q7Z5R6 73183 666 5.39 10 Cytosol;Lamellipodium;Focal adhesion;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q7Z5S9 37653 345 6.63 4 Mitochondrion;Membrane NA 10 PE2 NX_Q7Z5U6 38989 358 6.07 3 Cytosol;Cell membrane NA 0 PE1 NX_Q7Z5V6 47295 425 8.74 11 NA NA 0 PE1 NX_Q7Z5W3 33200 292 6.22 12 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q7Z5Y6 44798 402 9.06 1 Secreted NA 0 PE2 NX_Q7Z5Y7 47480 419 5.16 6 Cytoplasm;Endoplasmic reticulum;Nucleus speckle NA 0 PE1 NX_Q7Z601 51106 462 9.52 17 Cytosol;Cell junction;Cell membrane NA 7 PE2 NX_Q7Z602 35464 305 9.41 7 Cell membrane NA 7 PE2 NX_Q7Z614 36178 316 8.94 16 Nucleoplasm;Cytoplasm;Early endosome membrane;Nucleus;Cell membrane NA 0 PE1 NX_Q7Z624 36128 323 6.38 2 Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q7Z628 67740 596 9.31 10 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_Q7Z692 32638 300 5.74 19 Mitochondrion;Nucleolus;Nucleus;Membrane NA 1 PE2 NX_Q7Z695 68982 626 9.03 7 Cytosol;Centrosome;Membrane NA 1 PE1 NX_Q7Z698 47558 418 6.32 2 Cytosol;Cytoplasm;Secretory vesicle membrane;Cell membrane;Nucleoplasm NA 0 PE1 NX_Q7Z699 50477 444 6.12 15 Caveola;Nucleus;Cell membrane Neurofibromatosis 1-like syndrome 0 PE1 NX_Q7Z6A9 32834 289 6.09 3 Membrane NA 1 PE1 NX_Q7Z6B0 49971 441 5.03 12 Nucleoplasm;trans-Golgi network membrane;Golgi apparatus;trans-Golgi network;Membrane NA 0 PE1 NX_Q7Z6B7 124264 1085 6.36 12 Nucleus speckle Thyroid cancer, non-medullary, 2 0 PE1 NX_Q7Z6E9 201564 1792 9.65 16 Nucleus speckle;Nucleolus;Centrosome;Chromosome NA 0 PE1 NX_Q7Z6G3 43194 386 5.33 16 Axon;Cytoplasm;Cytoplasmic vesicle;Cell membrane;Dendrite NA 0 PE1 NX_Q7Z6G8 138066 1248 5.93 12 Cajal body;Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Dendritic spine;Postsynaptic density NA 0 PE1 NX_Q7Z6I5 20418 190 5.23 3 Mitochondrion;Nucleoplasm;Cytosol;Cell membrane NA 0 PE2 NX_Q7Z6I6 118582 1101 4.75 1 Cytoplasmic vesicle NA 0 PE1 NX_Q7Z6I8 20132 188 9.87 5 Nucleus NA 0 PE1 NX_Q7Z6J0 93129 888 8.85 4 Cytoplasmic vesicle;Lamellipodium;Perinuclear region;Cytoskeleton;trans-Golgi network NA 0 PE1 NX_Q7Z6J2 42623 395 9.01 12 Cytoplasmic vesicle;Postsynaptic cell membrane;Perinuclear region;Nucleus;Cell membrane NA 0 PE1 NX_Q7Z6J4 74892 655 6.51 6 Cytoplasm;Early endosome membrane;Nucleus;Ruffle membrane;Early endosome;Cytoskeleton NA 0 PE1 NX_Q7Z6J6 65065 570 8.62 15 Adherens junction;Centrosome;Golgi apparatus;Membrane NA 1 PE1 NX_Q7Z6J8 43657 389 8.51 6 Cytoplasm NA 0 PE1 NX_Q7Z6J9 58819 526 8.04 17 Nucleolus;Nucleus Pontocerebellar hypoplasia 5;Pontocerebellar hypoplasia 4;Pontocerebellar hypoplasia 2A 0 PE1 NX_Q7Z6K1 45416 395 6.26 7 Nucleus NA 0 PE1 NX_Q7Z6K3 46405 402 6.5 9 Cytoplasm;Microtubule organizing center NA 0 PE1 NX_Q7Z6K4 12492 114 6.82 9 Nucleoplasm;Cytosol NA 0 PE2 NX_Q7Z6K5 24943 226 5.57 15 Lamellipodium NA 0 PE1 NX_Q7Z6L0 34945 340 4.64 16 Synaptic vesicle membrane;Dendritic spine;Synapse;Cell membrane;Axon;Presynaptic cell membrane;Postsynaptic density Convulsions, familial infantile, with paroxysmal choreoathetosis;Episodic kinesigenic dyskinesia 1;Seizures, benign familial infantile, 2 1 PE1 NX_Q7Z6L1 129696 1165 5.83 7 Cytoplasmic vesicle;Autophagosome membrane;Lysosome membrane NA 0 PE1 NX_Q7Z6M1 40565 372 5.8 9 Endosome membrane;Cytoplasm;Cell membrane NA 0 PE1 NX_Q7Z6M2 62630 555 6.95 14 Nucleoplasm NA 0 PE1 NX_Q7Z6M3 38735 343 7.91 17 Cell membrane NA 1 PE1 NX_Q7Z6M4 43958 381 4.71 2 Mitochondrion;Cytosol NA 0 PE1 NX_Q7Z6P3 110850 1021 5 6 Cell membrane NA 0 PE1 NX_Q7Z6R9 49578 452 8.41 6 Nucleus NA 0 PE2 NX_Q7Z6V5 21046 191 6.34 6 Nucleoplasm;Cytosol;Golgi apparatus NA 0 PE1 NX_Q7Z6W1 20071 182 8.9 1 Membrane NA 1 PE1 NX_Q7Z6W7 35434 309 5.34 22 NA NA 0 PE2 NX_Q7Z6Z6 47912 429 6.31 22 NA NA 0 PE2 NX_Q7Z6Z7 481891 4374 5.1 X Nucleoplasm;Cytoplasm;Nucleus;Cytosol Mental retardation, X-linked 17;Mental retardation, X-linked, syndromic, Turner type 0 PE1 NX_Q7Z713 16872 158 5.75 4 Cytosol;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q7Z736 85317 793 8.07 17 Golgi apparatus NA 0 PE1 NX_Q7Z739 63861 585 9.07 8 Cytosol;Cytoplasm;Nucleus membrane;Nucleus speckle NA 0 PE1 NX_Q7Z745 180781 1585 5.9 5 Cytoplasm;Flagellum;Acrosome NA 0 PE1 NX_Q7Z769 35066 313 9.29 12 Membrane NA 9 PE2 NX_Q7Z794 61901 578 5.73 12 Cell membrane;Nucleus membrane NA 0 PE1 NX_Q7Z7A1 268886 2325 5.44 9 Cytosol;Midbody ring;Centrosome NA 0 PE1 NX_Q7Z7A3 36450 348 9.48 19 Cytoplasm NA 0 PE1 NX_Q7Z7A4 64950 578 9.41 3 Cytosol;Cytoplasm;Cell membrane;Microtubule organizing center NA 0 PE1 NX_Q7Z7B0 138109 1213 8.46 6 Cytoskeleton;Cell membrane NA 0 PE1 NX_Q7Z7B1 56882 504 9.31 17 Endoplasmic reticulum membrane;Cell membrane Glycosylphosphatidylinositol biosynthesis defect 11 12 PE1 NX_Q7Z7B7 10610 95 9.72 20 Secreted NA 0 PE1 NX_Q7Z7B8 10650 93 9.08 20 Secreted NA 0 PE2 NX_Q7Z7C7 36908 330 4.97 7 Cytoplasm;Nucleus NA 0 PE1 NX_Q7Z7C8 34262 310 6.03 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q7Z7D3 30878 282 5.2 1 Focal adhesion;Cell junction;Cell membrane NA 1 PE1 NX_Q7Z7E8 46127 422 4.96 1 Nucleoplasm;Cytosol;Nucleus;Centrosome;Filopodium NA 0 PE1 NX_Q7Z7F0 64845 614 8.84 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q7Z7F7 15128 128 11.15 1 Cytoplasmic vesicle;Mitochondrion;Golgi apparatus NA 0 PE1 NX_Q7Z7G0 118642 1075 9.48 3 Secreted NA 0 PE1 NX_Q7Z7G1 49554 428 9.11 4 Cytoplasmic vesicle NA 0 PE1 NX_Q7Z7G2 18336 160 4.54 18 Synapse;Membrane NA 0 PE1 NX_Q7Z7G8 448664 4022 6.03 8 Cell junction Cohen syndrome 0 PE1 NX_Q7Z7H3 43900 387 5.28 2 Cytoplasm;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 NX_Q7Z7H5 25943 227 8.41 7 Endoplasmic reticulum membrane NA 1 PE1 NX_Q7Z7H8 29283 261 9.63 17 Mitochondrion NA 0 PE1 NX_Q7Z7J5 33784 298 9.35 3 Nucleus NA 0 PE1 NX_Q7Z7J7 27007 247 6.85 3 Dendrite;Postsynaptic cell membrane;Nucleus;Golgi apparatus NA 4 PE1 NX_Q7Z7J9 8553 78 5.22 1 Synaptosome;Postsynaptic density NA 0 PE1 NX_Q7Z7K0 12490 106 8.89 3 Mitochondrion NA 0 PE1 NX_Q7Z7K2 65124 595 9.12 7 Mitochondrion;Nucleus NA 0 PE1 NX_Q7Z7K6 29946 275 9.78 17 Kinetochore;Spindle;Nucleus NA 0 PE1 NX_Q7Z7L1 102836 901 8 17 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q7Z7L7 88169 766 5.43 9 Cytosol NA 0 PE1 NX_Q7Z7L8 46114 435 10.04 11 Cytosol;Focal adhesion;Nucleus NA 0 PE1 NX_Q7Z7L9 69547 614 7.04 15 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q7Z7M0 303100 2845 6.45 19 Membrane Carpenter syndrome 2 1 PE1 NX_Q7Z7M1 104087 963 8.33 9 Membrane NA 7 PE2 NX_Q7Z7M8 43396 397 8.66 19 Golgi apparatus membrane NA 1 PE1 NX_Q7Z7M9 106266 940 9.51 2 Cytosol;Cytoplasmic vesicle;Nucleolus;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q7Z7N9 23550 219 8.1 11 Nucleus speckle;Membrane NA 4 PE1 NX_Q86SE5 32331 291 7.69 8 Nucleoplasm NA 0 PE1 NX_Q86SE8 24152 214 4.97 8 Nucleolus;Nucleus NA 0 PE1 NX_Q86SE9 29714 256 6.11 10 Nucleoplasm;Nucleolus;Nucleus;Centrosome NA 0 PE1 NX_Q86SF2 75389 657 6.67 4 Nucleus;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q86SG2 34297 305 9.51 2 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q86SG3 64785 579 9.23 Y Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 0 PE1 NX_Q86SG4 20403 172 9.89 15 NA NA 0 PE5 NX_Q86SG5 11305 101 6.89 1 Cytoplasm NA 0 PE1 NX_Q86SG6 74806 692 8.02 17 Cytoplasm;Cytoskeleton;Cilium Nephronophthisis 9;Renal-hepatic-pancreatic dysplasia 2 0 PE1 NX_Q86SG7 23498 212 9.03 2 Secreted NA 0 PE1 NX_Q86SH2 45873 424 9.31 4 Cytoplasm NA 0 PE1 NX_Q86SH4 10756 94 9.57 20 Secreted NA 0 PE5 NX_Q86SI9 15091 138 11.42 5 Cytoplasmic vesicle;Golgi apparatus;Secreted NA 0 PE1 NX_Q86SJ2 57934 522 8.73 12 Cytosol;Nucleus;Cell membrane;Golgi apparatus NA 1 PE1 NX_Q86SJ6 113824 1040 4.42 18 Desmosome;Cell membrane Hypotrichosis 6 1 PE1 NX_Q86SK9 37610 330 9.65 4 Endoplasmic reticulum membrane NA 4 PE1 NX_Q86SM5 31518 289 9.59 11 Cell membrane NA 7 PE2 NX_Q86SM8 34286 312 8.49 11 Cell membrane NA 7 PE2 NX_Q86SP6 80984 731 6.56 3 Cell membrane NA 7 PE2 NX_Q86SQ0 142158 1253 7.06 3 Cytosol;Cytoplasm;Cell membrane;Membrane NA 0 PE1 NX_Q86SQ3 50903 457 8.7 19 Cell membrane;Secreted NA 7 PE5 NX_Q86SQ4 136695 1221 8.18 6 Cell membrane Lethal congenital contracture syndrome 9 7 PE1 NX_Q86SQ6 60885 560 8.25 10 Membrane NA 7 PE1 NX_Q86SQ7 82682 713 5.59 1 Centriole;Cytoplasm;Cell junction;Centrosome Senior-Loken syndrome 7;Bardet-Biedl syndrome 16 0 PE1 NX_Q86SQ9 38657 333 8.56 1 Endoplasmic reticulum membrane;Cell membrane Developmental delay and seizures with or without movement abnormalities;Retinitis pigmentosa 59 0 PE1 NX_Q86SR1 68992 603 8.84 5 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus;Cell membrane NA 1 PE1 NX_Q86SS6 56188 491 6.79 11 Synaptic vesicle membrane NA 1 PE1 NX_Q86SU0 62815 546 9.12 3 Cytosol;Cell membrane Deafness, autosomal recessive, 42 1 PE1 NX_Q86SX3 54231 495 8.4 14 Cytosol;Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q86SX6 16628 157 6.28 14 Mitochondrion;Mitochondrion matrix Anemia, sideroblastic, 3, pyridoxine-refractory;Spasticity, childhood-onset, with hyperglycinemia 0 PE1 NX_Q86SY8 5770 53 5.43 14 NA NA 0 PE5 NX_Q86SZ2 17983 158 8.88 14 cis-Golgi network;Endoplasmic reticulum Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 0 PE1 NX_Q86T03 29470 277 9.24 14 Lysosome membrane;Late endosome membrane NA 2 PE1 NX_Q86T13 51636 490 5.98 14 Endoplasmic reticulum;Golgi apparatus;Membrane NA 1 PE1 NX_Q86T20 11550 102 6.49 6 Membrane NA 1 PE1 NX_Q86T23 12396 111 4.45 1 NA NA 0 PE5 NX_Q86T24 74484 672 4.97 X Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q86T26 46337 416 9.04 4 Cell membrane;Endoplasmic reticulum NA 1 PE1 NX_Q86T29 74376 641 9.32 12 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_Q86T65 123499 1068 6.36 6 Cytosol;Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 NX_Q86T75 99433 865 4.75 1 Cytoplasm NA 0 PE2 NX_Q86T82 110170 979 5.87 2 Nucleolus;Nucleus NA 0 PE1 NX_Q86T90 65373 577 8.36 18 Cytoplasmic vesicle;Nucleus speckle;Lipid droplet NA 0 PE1 NX_Q86T96 68254 592 8.89 5 Cytosol;Endoplasmic reticulum membrane;Nucleus envelope NA 1 PE1 NX_Q86TA1 25464 216 8.72 9 NA NA 0 PE1 NX_Q86TA4 19528 180 7.57 2 NA NA 0 PE5 NX_Q86TB3 237013 2170 5.14 18 Cytosol NA 0 PE1 NX_Q86TB9 86850 770 6.22 11 Cytosol;Nucleus speckle;P-body;Nucleus;PML body NA 0 PE1 NX_Q86TC9 145257 1320 6.33 10 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Sarcomere;Cytoskeleton;Z line Cardiomyopathy, familial restrictive 4;Nemaline myopathy 11;Cardiomyopathy, familial hypertrophic 22;Cardiomyopathy, dilated 1KK 0 PE1 NX_Q86TD4 100788 932 4.34 16 Sarcoplasmic reticulum lumen NA 0 PE1 NX_Q86TE4 38958 346 8.9 11 Cytosol;Nucleoplasm;Cell membrane;Secreted NA 0 PE1 NX_Q86TG1 28835 271 5.45 2 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA 6 PE1 NX_Q86TG7 80173 708 5.94 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q86TH1 104621 951 6.02 9 Cytoplasmic vesicle;Secreted Geleophysic dysplasia 1 0 PE1 NX_Q86TI0 133084 1168 6.52 4 Nucleolus;Nucleus NA 0 PE1 NX_Q86TI2 98263 863 6.01 19 Cytosol;Nucleus NA 0 PE1 NX_Q86TI4 40731 376 8.54 7 NA NA 0 PE2 NX_Q86TJ2 48470 420 7.93 4 Nucleus speckle;Nucleus NA 0 PE1 NX_Q86TJ5 60582 538 7.56 19 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q86TL0 52922 474 8.93 19 Mitochondrion matrix;Cytoplasm NA 0 PE1 NX_Q86TL2 33187 294 8.28 3 Endoplasmic reticulum membrane;Cytosol NA 5 PE1 NX_Q86TM3 71154 631 9.16 X Nucleus NA 0 PE1 NX_Q86TM6 67685 617 6.47 11 Nucleoplasm;Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum NA 5 PE1 NX_Q86TN4 27742 253 10.01 11 Mitochondrion NA 0 PE1 NX_Q86TP1 50200 453 5.28 1 Cytosol;Cytoplasm;Focal adhesion;Nucleus Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 0 PE1 NX_Q86TS7 6040 51 4.72 14 NA NA 0 PE5 NX_Q86TS9 13664 123 10.27 14 Mitochondrion NA 0 PE1 NX_Q86TU6 12089 105 9.74 14 NA NA 0 PE5 NX_Q86TU7 67257 594 5.72 14 Mitochondrion;Nucleus NA 0 PE1 NX_Q86TV6 94179 843 6.43 14 Cytosol;Cell membrane NA 0 PE1 NX_Q86TW2 60577 530 8.84 14 Nucleoplasm;Secreted NA 0 PE1 NX_Q86TX2 46277 421 6.9 14 Cytoplasm NA 0 PE1 NX_Q86TY3 84173 774 4.26 14 Cell membrane;Membrane NA 1 PE1 NX_Q86TZ1 59379 520 5.95 14 Centrosome NA 0 PE1 NX_Q86U02 13541 117 6.01 14 Membrane NA 1 PE5 NX_Q86U06 48731 439 9.86 14 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q86U10 60883 573 5.44 14 NA NA 0 PE1 NX_Q86U17 46989 422 7.25 14 Secreted NA 0 PE1 NX_Q86U28 16476 154 5.16 14 Mitochondrion Multiple mitochondrial dysfunctions syndrome 4 0 PE1 NX_Q86U37 18828 167 9.74 14 NA NA 0 PE2 NX_Q86U38 69438 636 6.86 14 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q86U42 32749 306 5.04 14 Cytoplasm;Nucleus;Nucleus speckle Oculopharyngeal muscular dystrophy 0 PE1 NX_Q86U44 64474 580 5.98 14 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q86U70 46533 411 6.52 10 Nucleoplasm;Nucleus NA 0 PE1 NX_Q86U86 192948 1689 6.46 3 Nucleoplasm;Nucleus Renal cell carcinoma 0 PE1 NX_Q86U90 29328 279 8.9 1 Mitochondrion;Membrane NA 0 PE1 NX_Q86UA1 78430 669 5.26 14 Nucleoplasm;Nucleus NA 0 PE1 NX_Q86UA6 24770 219 4.86 17 PML body;Nucleolus;Nucleus;Cytoplasm NA 0 PE1 NX_Q86UB2 56774 503 9.15 13 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q86UB9 52291 458 9.53 11 Cytoplasmic vesicle;Peroxisome membrane;Mitochondrion membrane NA 6 PE1 NX_Q86UC2 63687 560 5.53 6 Cytoplasmic vesicle;Cell membrane;Cytosol;Cilium;Cilium axoneme Ciliary dyskinesia, primary, 32 0 PE1 NX_Q86UD0 42637 394 9.14 9 Apical cell membrane;Cytosol;Cytoplasm;Cell cortex;Nucleolus;Nucleus;Tight junction NA 0 PE1 NX_Q86UD1 30688 273 6.39 11 Nucleus NA 0 PE1 NX_Q86UD3 28504 253 8.58 5 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Early endosome membrane NA 2 PE1 NX_Q86UD4 61725 541 8.94 19 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_Q86UD5 57564 537 6.28 4 Synaptic vesicle membrane;Apical cell membrane;Basolateral cell membrane;Nucleoplasm;Cell membrane;Endosome membrane;Flagellum membrane;Cell junction;Mitochondrion membrane NA 12 PE1 NX_Q86UD7 28839 250 9.74 17 NA NA 0 PE2 NX_Q86UE3 98405 836 8.94 19 Cytosol;Nucleus NA 0 PE1 NX_Q86UE4 63837 582 9.33 8 Endoplasmic reticulum membrane;Nucleolus;Nucleus membrane;Endoplasmic reticulum;Perinuclear region;Tight junction NA 1 PE1 NX_Q86UE6 58641 522 7.01 2 Postsynaptic cell membrane;Cell membrane NA 1 PE1 NX_Q86UE8 87661 772 8.65 17 Cytoskeleton;Nucleus;Perinuclear region Mental retardation, autosomal dominant 57 0 PE1 NX_Q86UF1 31538 283 6.85 7 Cytoskeleton;Cell membrane NA 4 PE1 NX_Q86UF2 87900 777 5.09 7 Membrane NA 1 PE2 NX_Q86UF4 34103 302 9.62 1 Cytoplasmic vesicle NA 0 PE2 NX_Q86UG4 79232 719 8.93 5 Cell membrane NA 12 PE1 NX_Q86UK0 293237 2595 7.89 2 Cytosol;Cytoplasmic vesicle;Nucleolus;Cell membrane;Membrane Ichthyosis, congenital, autosomal recessive 4A;Ichthyosis, congenital, autosomal recessive 4B 14 PE1 NX_Q86UK5 147948 1308 6.53 4 Cell membrane;Cilium membrane;Nucleus;Mitochondrion;Cilium;Cilium basal body Ellis-van Creveld syndrome;Acrofacial dysostosis, Weyers type 1 PE1 NX_Q86UK7 98637 904 8.75 16 Cytosol;Cell membrane NA 0 PE1 NX_Q86UL3 52071 456 9.28 8 Endoplasmic reticulum membrane NA 2 PE1 NX_Q86UL8 158754 1455 5.95 7 Cytoplasm;Late endosome;Cell membrane;Synaptosome Nephrotic syndrome 15 0 PE1 NX_Q86UN2 49065 441 9.25 17 Cell projection;Perikaryon;Membrane raft;Cell membrane NA 0 PE1 NX_Q86UN3 46106 420 7.58 11 Axon;Dendrite;Perikaryon;Membrane raft;Cell membrane NA 0 PE1 NX_Q86UN6 22815 197 6.31 X Cytoplasm NA 0 PE1 NX_Q86UP0 87752 819 4.65 14 Cytosol;Nucleoplasm;Cell junction;Cell membrane;Microtubule organizing center NA 1 PE1 NX_Q86UP2 156275 1357 5.52 14 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 NX_Q86UP3 393730 3567 5.94 8 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q86UP6 68153 607 6.05 10 Cytoplasmic vesicle;Nucleolus;Secretory vesicle membrane NA 1 PE1 NX_Q86UP8 107168 949 5.49 7 Nucleus NA 0 PE1 NX_Q86UP9 25769 236 5.69 7 Cytoplasmic vesicle;Membrane NA 4 PE2 NX_Q86UQ0 41189 364 8.61 3 Nucleoplasm;Nucleus NA 0 PE1 NX_Q86UQ4 576159 5058 6.01 7 Cytoplasmic vesicle;Cytosol;Centrosome;Membrane NA 14 PE1 NX_Q86UQ5 15623 136 7.12 18 Membrane NA 1 PE5 NX_Q86UQ8 19019 179 9.46 7 Nucleus NA 0 PE1 NX_Q86UR1 50933 476 6.06 9 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA 0 PE1 NX_Q86UR5 189073 1692 9.68 6 Synapse;Presynaptic cell membrane;Cell membrane Cone-rod dystrophy 7 0 PE1 NX_Q86US8 160462 1419 6.66 17 Cytosol;Nucleolus;Telomere NA 0 PE1 NX_Q86UT5 61032 571 6.24 11 Cytoplasm;Cell membrane NA 0 PE1 NX_Q86UT6 107616 975 7 11 Mitochondrion;Cell junction;Cell membrane;Mitochondrion outer membrane NA 0 PE1 NX_Q86UT8 37974 332 8.48 11 Cytoplasm;Nucleus NA 0 PE1 NX_Q86UU0 157129 1499 8.79 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q86UU1 151162 1377 8.85 11 Nucleoplasm NA 0 PE1 NX_Q86UU5 66699 652 10.3 19 NA NA 0 PE1 NX_Q86UU9 12305 113 5.24 17 Secreted NA 0 PE1 NX_Q86UV5 119032 1035 5.75 1 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus;Cytosol NA 0 PE1 NX_Q86UV6 28547 250 5.84 7 NA NA 0 PE1 NX_Q86UV7 28517 250 5.95 7 NA NA 0 PE2 NX_Q86UW1 37735 340 8.89 3 Endoplasmic reticulum membrane;Cell membrane NA 7 PE1 NX_Q86UW2 14346 128 4.58 15 Mitochondrion;Cytoplasmic vesicle;Cell membrane NA 1 PE1 NX_Q86UW6 198801 1770 5.11 4 Nucleoplasm;Cytoplasm;Centrosome;Cell membrane NA 0 PE1 NX_Q86UW7 147735 1296 5.83 7 Cytoplasmic vesicle;Nucleoplasm;Cytoplasmic vesicle membrane;Synapse NA 0 PE1 NX_Q86UW8 42801 402 9.12 19 Extracellular matrix NA 0 PE1 NX_Q86UW9 67246 622 8.79 7 Nucleoplasm;Cytoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_Q86UX2 104576 942 8.47 10 Cytoplasmic vesicle;Golgi apparatus;Secreted NA 0 PE1 NX_Q86UX6 54994 486 6.16 10 NA NA 0 PE1 NX_Q86UX7 75953 667 6.53 11 Cytoplasmic vesicle;Podosome Leukocyte adhesion deficiency 3 0 PE1 NX_Q86UY5 47458 434 9.04 8 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q86UY6 27194 237 7.06 11 Cytoplasm;Nucleus NA 0 PE1 NX_Q86UY8 63420 548 8.46 12 Cytosol;Mitochondrion NA 0 PE1 NX_Q86UZ6 64083 589 5.55 20 Nucleus NA 0 PE1 NX_Q86V15 190069 1759 6.59 1 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q86V20 93705 835 6.41 10 Nucleoplasm;Cytoskeleton;Nucleus;Chromosome NA 0 PE1 NX_Q86V21 75144 672 5.86 12 Cytoplasmic vesicle;Cytosol NA 0 PE1 NX_Q86V24 43884 386 6.11 12 Cell membrane NA 7 PE1 NX_Q86V25 40450 355 10.02 1 Cytosol;Cytoplasm;Secreted NA 0 PE1 NX_Q86V35 24453 215 4.56 22 Perinuclear region;trans-Golgi network membrane;Cell membrane NA 1 PE1 NX_Q86V40 57676 505 9.03 2 Cell membrane NA 1 PE1 NX_Q86V42 60104 546 6.12 13 Cytosol;Nucleus NA 0 PE1 NX_Q86V48 120275 1076 8.67 1 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Nucleus NA 0 PE1 NX_Q86V59 48161 439 9.09 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q86V71 78152 674 9.5 19 Nucleus NA 0 PE2 NX_Q86V81 26888 257 11.15 17 Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 NX_Q86V85 49395 440 7.01 13 Cytoplasmic vesicle;Membrane NA 7 PE1 NX_Q86V86 35891 326 5.75 22 Cytosol;Cytoplasm NA 0 PE1 NX_Q86V87 82340 743 5.27 8 Cytosol;Nucleoplasm NA 0 PE1 NX_Q86V88 20109 176 5.95 14 Nucleoplasm NA 0 PE1 NX_Q86V97 76138 674 5.74 13 NA NA 0 PE1 NX_Q86VB7 125451 1156 5.61 12 Cell membrane;Secreted NA 1 PE1 NX_Q86VD1 112881 984 8.11 3 Nucleus NA 0 PE1 NX_Q86VD7 35409 318 10.08 19 Mitochondrion;Mitochondrion inner membrane NA 6 PE1 NX_Q86VD9 63471 579 8.66 3 Endoplasmic reticulum membrane;Cytoplasmic vesicle NA 8 PE2 NX_Q86VE0 42508 399 10.08 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q86VE3 55833 508 5.17 X NA NA 0 PE1 NX_Q86VE9 47009 423 7.88 5 Cytoplasmic vesicle;Perinuclear region;Nucleus;Cell membrane;Golgi apparatus NA 9 PE1 NX_Q86VF2 137763 1251 7.51 1 Midbody ring;Nucleus;Z line NA 0 PE1 NX_Q86VF5 38730 341 8.86 7 Endoplasmic reticulum membrane;Perinuclear region;Centrosome NA 3 PE1 NX_Q86VF7 197074 1730 9.24 10 Centrosome NA 0 PE1 NX_Q86VG3 25407 221 4.39 11 Cytosol NA 0 PE1 NX_Q86VH2 160283 1401 6.9 9 Cytoskeleton;Cilium NA 0 PE1 NX_Q86VH4 67217 590 9.12 2 Postsynaptic cell membrane;Cell membrane NA 1 PE1 NX_Q86VH5 65896 581 9.28 10 Postsynaptic cell membrane;Cell membrane NA 1 PE1 NX_Q86VI1 81678 746 5.44 16 Cytoplasmic vesicle;Secretory vesicle;Cell membrane NA 0 PE2 NX_Q86VI3 184699 1631 7.34 1 Nucleolus;Nucleus NA 0 PE1 NX_Q86VI4 35123 317 9.05 8 Lysosome membrane;Golgi apparatus;Multivesicular body lumen;Cell membrane;Endomembrane system;Endosome membrane;Late endosome membrane;Multivesicular body membrane;Cell projection NA 4 PE1 NX_Q86VK4 52113 478 5.86 14 Nucleus NA 0 PE1 NX_Q86VL8 65085 602 8.63 17 Cell membrane;Endoplasmic reticulum NA 13 PE1 NX_Q86VM9 106378 953 8.39 16 Nucleus speckle;Nucleus NA 0 PE1 NX_Q86VN1 43817 386 6.75 13 Endosome;Late endosome;Lysosome;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Membrane;Cell junction NA 0 PE1 NX_Q86VP1 90877 789 5.3 7 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q86VP3 97702 889 6.15 14 Mitochondrion;Endoplasmic reticulum NA 0 PE1 NX_Q86VP6 136376 1230 5.52 12 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleoplasm NA 0 PE1 NX_Q86VQ0 80554 697 7.31 6 Cytoskeleton;Centrosome;Cilium axoneme;Cilium basal body Leber congenital amaurosis 5 0 PE1 NX_Q86VQ1 58024 547 9.54 7 Nucleolus NA 0 PE1 NX_Q86VQ3 60404 553 4.81 18 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q86VQ6 70683 643 8.13 3 Cytoplasm;Nucleus;Microsome;Endoplasmic reticulum NA 0 PE1 NX_Q86VR2 51396 466 4.83 17 Nucleoplasm;Cytosol;Nucleus membrane;Membrane NA 3 PE1 NX_Q86VR7 91625 867 7.91 19 Nucleus;Membrane NA 1 PE1 NX_Q86VR8 48507 437 10.66 11 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q86VS3 117349 1027 9.19 15 Cytosol NA 0 PE1 NX_Q86VS8 83126 718 5.12 8 Cytosol;Cytoskeleton;Golgi apparatus;Microtubule organizing center NA 0 PE1 NX_Q86VU5 28809 262 8.71 10 Cytosol;Cell membrane;Golgi apparatus;Membrane NA 1 PE1 NX_Q86VV4 52211 465 9.15 5 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q86VV8 248630 2226 6.25 18 Centrosome;Cilium basal body Microcephaly, short stature, and polymicrogyria with or without seizures 0 PE1 NX_Q86VW0 79348 696 4.99 2 Cytoskeleton NA 0 PE1 NX_Q86VW1 64614 577 8.44 6 Cell membrane;Membrane NA 12 PE1 NX_Q86VW2 63843 580 6.19 12 Sarcomere;Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_Q86VX2 22540 200 5.69 20 Cytoplasmic vesicle NA 0 PE1 NX_Q86VX9 72895 652 8.43 3 Cytosol NA 0 PE1 NX_Q86VY4 45143 417 9.57 8 Cytosol;Golgi apparatus NA 0 PE1 NX_Q86VY9 54356 491 9.24 6 Membrane NA 2 PE1 NX_Q86VZ1 40635 359 9.62 X Cell membrane NA 7 PE1 NX_Q86VZ2 36338 330 7.53 3 NA NA 0 PE1 NX_Q86VZ4 53311 500 6.04 6 Mitochondrion;Membrane NA 1 PE1 NX_Q86VZ5 48617 413 8.66 10 Nucleoplasm;Cytosol;Nucleolus;Golgi apparatus membrane;Golgi apparatus NA 5 PE1 NX_Q86VZ6 27079 243 8.63 7 Nucleolus;Nucleus NA 0 PE1 NX_Q86W10 59086 505 9.29 1 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_Q86W11 56364 494 6.24 18 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q86W24 124733 1093 6.18 11 Cytosol;Cytoplasm NA 0 PE1 NX_Q86W25 118884 1043 5.43 19 NA NA 0 PE1 NX_Q86W26 75032 655 6.81 11 Nucleoplasm;Cytoplasm;Nucleus membrane;Cell membrane NA 0 PE1 NX_Q86W28 119430 1048 8.32 19 Cytoplasm NA 0 PE2 NX_Q86W33 41053 373 5.72 3 Cytoplasmic vesicle;Membrane NA 7 PE1 NX_Q86W34 41263 360 8.41 17 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q86W42 37535 341 7.12 16 Nucleoplasm;Nucleus speckle;Nucleus Beaulieu-Boycott-Innes syndrome 0 PE1 NX_Q86W47 23949 210 6.29 12 Cytosol;Membrane NA 2 PE1 NX_Q86W50 63621 562 8.08 17 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q86W54 23587 205 7.77 5 Cytosol;Nucleoplasm;Nucleolus;Nucleus;Cytoplasm NA 0 PE1 NX_Q86W56 111110 976 6.03 10 Mitochondrion matrix;Cytoplasm;Mitochondrion;Nucleus;Cytoplasmic vesicle NA 0 PE1 NX_Q86W67 23752 206 9.07 2 NA NA 0 PE2 NX_Q86W74 25967 232 6.65 8 Cytosol;Membrane NA 1 PE1 NX_Q86W92 114024 1011 5.4 12 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q86WA6 32543 291 9.2 6 Mitochondrion NA 0 PE1 NX_Q86WA8 94617 852 6.88 16 Peroxisome matrix NA 0 PE1 NX_Q86WA9 65299 606 7.02 17 Nucleoplasm;Cytoplasmic vesicle;Lysosome membrane;Cell membrane;Golgi apparatus NA 12 PE1 NX_Q86WB0 55262 502 5.44 7 Nucleus;Nucleus membrane NA 0 PE1 NX_Q86WB7 50270 457 7.46 6 Cell membrane NA 11 PE1 NX_Q86WC4 37257 334 5.69 6 Cytosol;Cytoplasmic vesicle;Lysosome membrane;Nucleus Osteopetrosis, autosomal recessive 5 1 PE1 NX_Q86WC6 17438 154 6.51 17 NA NA 0 PE1 NX_Q86WD7 46557 417 9.58 14 Cytoplasm;Membrane;Secreted NA 0 PE1 NX_Q86WG3 42120 371 4.54 19 Axon;Dendrite;Synapse;Mitochondrion envelope;Cytoplasm Cerebellar ataxia, cayman type 0 PE1 NX_Q86WG5 208464 1849 6.62 11 Cytosol;Cytoplasm;Cytoskeleton;Membrane;Nucleoplasm Charcot-Marie-Tooth disease 4B2 0 PE1 NX_Q86WH2 27562 238 7.02 12 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q86WI0 23777 220 8.39 X Membrane NA 3 PE2 NX_Q86WI1 465734 4243 5.71 8 Membrane NA 1 PE1 NX_Q86WI3 204595 1866 5.99 16 Cytoplasm;Centrosome NA 0 PE1 NX_Q86WJ1 101000 897 6.45 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q86WK6 55239 493 6.22 1 Perikaryon;Nucleoplasm;Cell membrane;Axon;Dendrite;Nucleus NA 1 PE1 NX_Q86WK7 55250 504 8.11 3 Membrane NA 1 PE1 NX_Q86WK9 39719 346 6.99 1 Cytosol;Cell membrane NA 7 PE1 NX_Q86WN1 76942 690 5.23 5 Nucleoplasm;Cytosol NA 0 PE1 NX_Q86WN2 24414 208 8.75 9 Secreted NA 0 PE2 NX_Q86WP2 53339 473 6.56 5 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Cell membrane NA 0 PE1 NX_Q86WQ0 15876 139 5.77 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q86WR0 24479 208 6.34 8 Nucleoplasm;Cytosol;Golgi apparatus NA 0 PE1 NX_Q86WR6 27182 236 9.65 17 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 NX_Q86WR7 45802 435 6.74 10 Cytosol;Cell membrane NA 0 PE1 NX_Q86WS3 17971 158 4.71 11 Secreted NA 0 PE1 NX_Q86WS4 74505 652 8.21 12 NA NA 0 PE1 NX_Q86WS5 38605 348 8.91 12 Membrane NA 1 PE1 NX_Q86WT1 76136 665 5.11 2 Cilium NA 0 PE1 NX_Q86WT6 57419 500 6.04 15 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q86WU2 54871 507 6.2 16 Mitochondrion;Cytosol NA 0 PE1 NX_Q86WV1 41432 359 4.47 17 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q86WV5 13856 123 7.76 17 Nucleus;Telomere NA 0 PE1 NX_Q86WV6 42193 379 6.6 5 Endoplasmic reticulum membrane;Cytoplasm;Perinuclear region;Cell membrane;Mitochondrion outer membrane STING-associated vasculopathy, infantile-onset 4 PE1 NX_Q86WW8 8376 74 8.97 2 Mitochondrion Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 0 PE1 NX_Q86WX3 15434 136 10.75 22 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q86WZ0 117175 1026 9.21 14 NA NA 0 PE1 NX_Q86WZ6 92033 799 9.1 19 Nucleus;Cell membrane NA 0 PE1 NX_Q86X02 53010 465 5.7 17 Cytosol NA 0 PE1 NX_Q86X10 166799 1494 6.33 20 Nucleus speckle NA 0 PE1 NX_Q86X19 23046 198 6.3 2 Cilium membrane;Cytoskeleton NA 4 PE1 NX_Q86X24 45200 394 5.66 1 Nucleoplasm;Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_Q86X27 65167 583 8.86 1 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA 0 PE1 NX_Q86X29 71439 649 8.29 19 Cytosol;Nucleoplasm;Cell membrane NA 1 PE1 NX_Q86X40 41912 367 8.18 15 Mitochondrion;Nucleus;Golgi apparatus NA 0 PE1 NX_Q86X45 54255 466 6.08 8 Cytoplasm;Cilium Ciliary dyskinesia, primary, 19 0 PE1 NX_Q86X51 51894 503 10.15 X Nucleoplasm NA 0 PE1 NX_Q86X52 91784 802 9.31 15 Golgi stack membrane;Secreted Temtamy preaxial brachydactyly syndrome 1 PE1 NX_Q86X53 48984 443 4.68 8 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q86X55 65854 608 6.25 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q86X59 25393 251 10.38 17 NA NA 0 PE1 NX_Q86X60 16617 149 5.54 1 NA NA 0 PE2 NX_Q86X67 39688 352 7.11 10 Nucleus NA 0 PE2 NX_Q86X76 35896 327 7.91 1 Mitochondrion;Cytoplasm NA 0 PE1 NX_Q86X83 22745 199 6.24 3 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q86X95 52313 450 9.88 2 Nucleus speckle;Centrosome NA 0 PE1 NX_Q86XA0 21469 190 4.91 17 Cytoplasm;Membrane Mental retardation, autosomal recessive 44 1 PE1 NX_Q86XA9 222004 2040 6.14 14 NA NA 0 PE1 NX_Q86XD5 35769 332 4.34 7 Cytosol;Nucleoplasm NA 0 PE1 NX_Q86XD8 80358 727 8.66 10 Golgi apparatus NA 0 PE2 NX_Q86XE0 46399 403 6.63 11 Focal adhesion;Cell junction NA 0 PE1 NX_Q86XE3 60711 530 8.35 8 Mitochondrion;Membrane NA 1 PE1 NX_Q86XE5 35249 327 8.13 10 Mitochondrion Hyperoxaluria primary 3 0 PE1 NX_Q86XF0 21620 187 7.75 3 Mitochondrion;Mitochondrion matrix;Mitochondrion inner membrane NA 0 PE1 NX_Q86XF7 26763 245 9.83 19 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q86XG9 40546 351 4.95 1 Cytoplasm NA 0 PE5 NX_Q86XH1 95341 822 9.48 2 Flagellum axoneme;Nucleus NA 0 PE1 NX_Q86XI2 130960 1143 6.43 7 Nucleus speckle;Nucleus NA 0 PE1 NX_Q86XI6 32695 285 5.86 8 Cytosol NA 0 PE1 NX_Q86XI8 70073 627 8.92 19 Nucleus NA 0 PE1 NX_Q86XJ0 38496 344 8.98 10 Nucleoplasm;Membrane NA 4 PE1 NX_Q86XJ1 75214 694 9.67 12 Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q86XK2 103585 927 6.53 2 Nucleus;Chromosome NA 0 PE1 NX_Q86XK3 28262 245 6.06 10 Nucleus NA 0 PE1 NX_Q86XK7 41811 387 4.59 X Cytoplasmic vesicle;Cytosol;Membrane NA 1 PE1 NX_Q86XL3 104114 938 6.66 12 Endoplasmic reticulum membrane;Endoplasmic reticulum;Cell membrane Microcephaly 16, primary, autosomal recessive 1 PE1 NX_Q86XM0 90468 798 7.04 19 Flagellum membrane NA 1 PE1 NX_Q86XN6 87716 746 9.22 19 Nucleus NA 0 PE1 NX_Q86XN7 95698 944 9.06 13 Cytosol;Nucleus NA 0 PE1 NX_Q86XN8 64883 651 5.19 19 Cytoplasm;Nucleus NA 0 PE1 NX_Q86XP0 91952 818 5.33 15 Cytosol;Membrane NA 0 PE1 NX_Q86XP1 134866 1220 6.11 13 Cytoplasm;Cell membrane NA 0 PE1 NX_Q86XP3 102975 938 6.54 17 Cajal body;Nucleus speckle;Cytoplasm NA 0 PE1 NX_Q86XP6 20487 184 7.03 2 Secreted NA 0 PE1 NX_Q86XQ3 46422 398 5.88 5 Flagellum membrane NA 6 PE1 NX_Q86XR2 77413 697 8.99 19 NA NA 0 PE1 NX_Q86XR5 16689 153 8.83 14 Cytosol;Synapse;Nucleolus;Cell junction;Cell membrane NA 1 PE1 NX_Q86XR7 26916 235 4.99 5 Golgi apparatus;Cytoplasm;Early endosome membrane;Endoplasmic reticulum;Late endosome membrane;Cell membrane NA 0 PE1 NX_Q86XR8 57089 500 9.35 11 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Centrosome Mosaic variegated aneuploidy syndrome 2 0 PE1 NX_Q86XS5 44144 388 6.14 11 Secreted NA 0 PE1 NX_Q86XS8 46405 419 9.12 5 Cytoplasm;Membrane NA 1 PE1 NX_Q86XT2 27730 251 9.2 7 Cytoplasmic vesicle;Late endosome membrane NA 0 PE1 NX_Q86XT4 54774 487 7.28 7 Cytoplasm NA 0 PE1 NX_Q86XT9 25724 240 8.81 16 Cell membrane NA 1 PE1 NX_Q86XU0 67996 584 9.3 19 Nucleus;Centrosome NA 0 PE1 NX_Q86XW9 36856 330 4.82 3 Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q86XX4 443214 4008 5.32 4 Nucleolus;Cell membrane Fraser syndrome 1 1 PE1 NX_Q86XZ4 59545 545 9.01 12 Cytosol;Cytoplasm NA 0 PE1 NX_Q86Y01 67368 620 9.67 12 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q86Y07 58141 508 8.97 2 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Endoplasmic reticulum;Mitochondrion membrane NA 1 PE1 NX_Q86Y13 138604 1208 6.45 3 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q86Y22 51944 540 6.88 5 Cell membrane NA 1 PE1 NX_Q86Y25 64847 554 8.36 5 Cytosol;Nucleus;Nucleus membrane NA 0 PE1 NX_Q86Y26 120314 1132 5.32 15 Cytoplasm;Nucleus NA 0 PE1 NX_Q86Y27 4711 43 4.58 13 Secreted NA 0 PE2 NX_Q86Y28 4230 39 4.25 21 Secreted NA 0 PE2 NX_Q86Y29 12112 109 8.59 21 Secreted NA 0 PE2 NX_Q86Y30 12114 109 9.02 21 Secreted NA 0 PE2 NX_Q86Y33 57335 519 8.76 5 NA NA 0 PE1 NX_Q86Y34 60861 549 9.01 16 Cell membrane NA 7 PE1 NX_Q86Y37 41064 369 5.08 10 Nucleoplasm NA 0 PE1 NX_Q86Y38 107569 959 9.32 16 Golgi apparatus membrane;Secreted Pseudoxanthoma elasticum;Desbuquois dysplasia 2 1 PE1 NX_Q86Y39 14852 141 8.95 19 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency 2 PE1 NX_Q86Y46 58923 540 6.93 12 NA NA 0 PE1 NX_Q86Y56 93521 855 5.98 7 Nucleoplasm;Cytoplasm;Cytosol;Cytoplasmic granule Ciliary dyskinesia, primary, 18 0 PE1 NX_Q86Y78 19118 171 5.69 2 Synaptosome;Secreted;Cytosol;Cytoplasm;Cell membrane;Membrane raft NA 0 PE1 NX_Q86Y79 22937 214 10.59 9 NA NA 0 PE1 NX_Q86Y82 31642 276 5.45 1 Endosome membrane;Golgi apparatus;Nucleoplasm;Early endosome membrane;Endomembrane system;Cytoplasmic vesicle;Golgi apparatus membrane;Recycling endosome membrane NA 1 PE1 NX_Q86Y91 94223 864 9.01 17 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q86Y97 52113 462 9.9 19 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q86YA3 236602 2104 5.81 4 Cytosol;Membrane NA 1 PE1 NX_Q86YB7 31126 292 9.03 1 Mitochondrion NA 0 PE1 NX_Q86YB8 53543 467 8.25 1 Endoplasmic reticulum membrane NA 0 PE1 NX_Q86YC2 131295 1186 6.03 16 Nucleoplasm;Nucleus Pancreatic cancer 3;Breast cancer;Fanconi anemia complementation group N 0 PE1 NX_Q86YC3 76366 692 5.75 3 Endoplasmic reticulum membrane;Cell membrane NA 1 PE1 NX_Q86YD1 46869 416 10.54 19 Perinuclear region;Nucleus;Cell membrane NA 0 PE1 NX_Q86YD3 39285 366 7.06 11 Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Secreted NA 1 PE1 NX_Q86YD5 37419 345 4.74 11 Cell junction;Cell membrane NA 1 PE1 NX_Q86YD7 49793 464 9.71 12 NA NA 0 PE1 NX_Q86YE8 78181 665 9.32 19 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 NX_Q86YF9 98664 867 5.8 13 Nucleoplasm;Cytoplasm;Microtubule organizing center;Centriole;Cytosol;Nucleus;Cilium basal body NA 0 PE1 NX_Q86YG4 48951 428 5.68 2 NA NA 0 PE1 NX_Q86YH2 61584 543 7.62 22 Nucleoplasm;Nucleus NA 0 PE1 NX_Q86YH6 44129 399 8.43 6 Mitochondrion;Cytosol Coenzyme Q10 deficiency, primary, 3 0 PE1 NX_Q86YI8 33582 300 7.89 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q86YJ5 37772 346 9.36 12 Lysosome membrane;Golgi apparatus membrane NA 2 PE1 NX_Q86YJ6 54116 484 6.07 2 Secreted NA 0 PE1 NX_Q86YJ7 70205 626 6.47 17 Cytoplasmic vesicle;Late endosome;Cell membrane;Early endosome NA 0 PE1 NX_Q86YL5 20403 185 5.76 8 Cytosol;Cytoplasmic vesicle;Nucleus;Cytoplasm NA 0 PE1 NX_Q86YL7 16698 162 4.37 1 Apical cell membrane;Basolateral cell membrane;Cytosol;Invadopodium;Microvillus membrane;Lamellipodium membrane;Ruffle membrane;Membrane;Filopodium membrane;Membrane raft NA 1 PE1 NX_Q86YM7 40277 354 5.33 5 Cytosol;Cytoplasm;Synapse;Dendritic spine;Postsynaptic density NA 0 PE1 NX_Q86YN1 27031 238 9.48 9 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cytoskeleton NA 4 PE1 NX_Q86YN6 113222 1023 4.94 5 Nucleus NA 0 PE1 NX_Q86YP4 68063 633 9.95 19 Nucleoplasm;Nucleus speckle NA 0 PE1 NX_Q86YQ2 19456 179 5.33 20 Secreted NA 0 PE5 NX_Q86YQ8 63108 564 5.66 12 NA NA 0 PE1 NX_Q86YR5 74510 675 6.1 9 Endoplasmic reticulum membrane;Golgi apparatus;Cytosol;Cell membrane;Nucleoplasm;Golgi apparatus membrane NA 0 PE1 NX_Q86YR6 66394 584 6.32 21 Cell membrane NA 0 PE2 NX_Q86YR7 126993 1114 6 3 Cytosol;Cell membrane Diabetes mellitus, non-insulin-dependent 0 PE1 NX_Q86YS3 71928 637 4.78 17 Endosome;Cleavage furrow;Midbody;Cytoplasmic vesicle;Spindle;Recycling endosome membrane;Centrosome NA 0 PE1 NX_Q86YS6 23339 212 5.44 3 trans-Golgi network membrane;Golgi apparatus;Phagosome;Cell membrane;trans-Golgi network;Phagosome membrane NA 0 PE1 NX_Q86YS7 110447 1000 5.47 12 Ruffle;Cytosol;Cell cortex;Cell membrane;Microtubule organizing center;Cytoplasmic vesicle membrane NA 0 PE1 NX_Q86YT5 63062 568 8.52 17 Nucleoplasm;Cell membrane;Membrane Epileptic encephalopathy, early infantile, 25 12 PE1 NX_Q86YT6 110136 1006 6.47 18 Cytoplasmic vesicle;Cytoplasm;Centriolar satellite;Cell membrane;Nucleus membrane Left ventricular non-compaction 7 0 PE1 NX_Q86YT9 44339 394 6.68 11 Cell junction;Cell membrane NA 1 PE1 NX_Q86YV0 111898 1011 9.03 19 Cytoplasm;Cell cortex NA 0 PE1 NX_Q86YV5 149624 1406 6.83 8 Nucleoplasm;Cytoplasm;Cytosol;Focal adhesion;Nucleus;Centrosome NA 0 PE1 NX_Q86YV6 44508 388 5.89 6 NA NA 0 PE1 NX_Q86YV9 82975 775 5.92 10 Cytosol;Microsome membrane;Early endosome membrane;Lysosome membrane Hermansky-Pudlak syndrome 6 0 PE1 NX_Q86YW0 70411 608 9.14 12 Perinuclear region;Nucleus Spermatogenic failure 17 0 PE1 NX_Q86YW5 32679 311 5.7 6 Cytoplasm;Cell membrane NA 1 PE1 NX_Q86YW7 14232 130 8 14 Secreted NA 0 PE1 NX_Q86YW9 240120 2145 7.97 3 Nucleolus;Nucleus NA 0 PE1 NX_Q86YZ3 282390 2850 10.05 1 Mitochondrion;Cytoplasmic granule NA 0 PE1 NX_Q86Z02 130843 1210 8.48 1 Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Centrosome NA 0 PE1 NX_Q86Z14 119808 1044 9.28 4 Cell membrane NA 1 PE1 NX_Q86Z20 58629 511 6.86 5 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus membrane NA 0 PE1 NX_Q86Z23 24909 238 8.41 12 Secreted NA 0 PE1 NX_Q8HWS3 102461 928 6.11 6 Nucleolus;Nucleus Mitchell-Riley syndrome 0 PE1 NX_Q8IU53 8607 76 10.35 10 NA NA 0 PE4 NX_Q8IU54 21898 200 9.08 19 Secreted NA 0 PE1 NX_Q8IU57 57653 520 4.89 1 Cytosol;Membrane NA 1 PE1 NX_Q8IU60 48423 420 8.21 5 Cytosol;Nucleoplasm;P-body;Nucleus;Cell junction NA 0 PE1 NX_Q8IU68 81641 726 9.49 17 Endoplasmic reticulum membrane;Golgi apparatus Epidermodysplasia verruciformis 8 PE1 NX_Q8IU80 90000 811 6.25 22 Cell membrane Iron-refractory iron deficiency anemia 1 PE1 NX_Q8IU81 61688 584 8.52 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8IU85 42914 385 6.77 10 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q8IU89 46316 383 7.63 15 Nucleoplasm;Nucleus membrane Ichthyosis, congenital, autosomal recessive 9 6 PE1 NX_Q8IU99 38264 346 8.53 10 Endoplasmic reticulum membrane;Cell membrane NA 4 PE1 NX_Q8IUA0 27824 241 8.43 20 Secreted NA 0 PE1 NX_Q8IUA7 184362 1624 6.49 17 Endoplasmic reticulum;Membrane NA 14 PE1 NX_Q8IUB2 24687 231 7.58 20 Secreted NA 0 PE2 NX_Q8IUB3 8325 73 8.82 20 Secreted NA 0 PE2 NX_Q8IUB5 10386 93 8.41 20 Secreted NA 0 PE2 NX_Q8IUB9 9008 90 8.45 21 NA NA 0 PE2 NX_Q8IUC0 18320 172 8.54 21 NA NA 0 PE1 NX_Q8IUC1 17085 163 8.32 21 NA NA 0 PE1 NX_Q8IUC2 6826 63 7.6 21 NA NA 0 PE1 NX_Q8IUC3 9288 87 8.57 21 NA NA 0 PE1 NX_Q8IUC4 76993 686 6.35 19 Perinuclear region NA 0 PE1 NX_Q8IUC6 76422 712 5.24 19 Nucleolus;Cytosol;Cell membrane;Nucleus;Autophagosome;Mitochondrion Encephalopathy, acute, infection-induced, Herpes-specific, 6 0 PE1 NX_Q8IUC8 64051 556 6.41 2 Golgi apparatus membrane NA 1 PE1 NX_Q8IUD2 128086 1116 5.72 12 Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Golgi apparatus membrane;Membrane NA 0 PE1 NX_Q8IUD6 47888 432 6.37 17 Cytoplasmic vesicle;Cytoplasm Macrocephaly, macrosomia, facial dysmorphism syndrome 0 PE1 NX_Q8IUE0 20814 185 9.84 Y Nucleus NA 0 PE1 NX_Q8IUE1 26675 241 9.13 X Nucleoplasm;Nucleus NA 0 PE1 NX_Q8IUE6 13995 130 10.88 1 Nucleus;Chromosome NA 0 PE1 NX_Q8IUF1 44034 395 4.79 2 NA NA 0 PE1 NX_Q8IUF8 52800 465 6.23 3 Nucleolus;Nucleus NA 0 PE1 NX_Q8IUG1 18184 177 5.53 17 NA NA 0 PE2 NX_Q8IUG5 285215 2567 6.45 22 Nucleoplasm;Cytoplasm;Sarcomere;Nucleus;Centrosome Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 0 PE1 NX_Q8IUH2 32109 290 9.18 2 Secreted NA 0 PE1 NX_Q8IUH3 53502 476 6.74 2 Cytoplasm;Nucleus NA 0 PE1 NX_Q8IUH4 70861 622 8.39 11 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Golgi apparatus membrane NA 6 PE1 NX_Q8IUH5 72640 632 7.29 12 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Golgi apparatus membrane;Presynaptic cell membrane;Golgi apparatus NA 6 PE1 NX_Q8IUH8 74503 684 6.28 17 Endoplasmic reticulum membrane;Membrane NA 9 PE1 NX_Q8IUI4 27226 249 4.8 16 NA NA 0 PE5 NX_Q8IUI8 49766 442 5.01 17 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q8IUK5 55760 500 5.49 17 Cytoplasm;Cell membrane;Tight junction;Secreted NA 1 PE1 NX_Q8IUK8 24084 224 8.8 18 Secreted NA 0 PE1 NX_Q8IUL8 126291 1156 8.63 19 Extracellular matrix NA 0 PE1 NX_Q8IUM7 87117 802 4.53 11 Nucleus NA 0 PE1 NX_Q8IUN9 35446 316 5.66 17 Membrane NA 1 PE1 NX_Q8IUQ0 40788 354 6.68 8 Clathrin-coated vesicle;Early endosome membrane;trans-Golgi network membrane NA 0 PE1 NX_Q8IUQ4 31123 282 6.35 16 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q8IUR0 20783 188 9.69 19 Cytoplasmic vesicle;cis-Golgi network;Endoplasmic reticulum NA 0 PE1 NX_Q8IUR5 98847 882 9.05 12 Cytosol;Nucleoplasm;Membrane NA 9 PE1 NX_Q8IUR6 72149 639 4.76 5 Nucleus NA 0 PE1 NX_Q8IUR7 75509 673 6.28 3 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 NX_Q8IUS5 42324 362 8.64 1 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q8IUW3 46179 424 5.35 16 Nucleoplasm;Mitochondrion;Cytosol NA 0 PE1 NX_Q8IUW5 29340 271 8.57 4 Cytoskeleton;Cell membrane NA 1 PE1 NX_Q8IUX1 25943 230 8.96 11 Mitochondrion;Mitochondrion membrane NA 4 PE1 NX_Q8IUX4 45020 373 6.85 22 Cytoplasm;P-body NA 0 PE1 NX_Q8IUX7 130929 1158 5.05 7 Secreted;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleoplasm;Nucleus Ehlers-Danlos syndrome, classic-like, 2 0 PE1 NX_Q8IUX8 61317 553 8.45 X Basement membrane NA 0 PE1 NX_Q8IUY3 40249 354 8.73 15 Cytosol;Nucleus speckle;Endoplasmic reticulum membrane;Nucleolus;Cell membrane NA 1 PE1 NX_Q8IUZ0 78894 686 7.94 15 Cytoskeleton NA 0 PE1 NX_Q8IUZ5 49711 450 6.28 5 Mitochondrion Phosphohydroxylysinuria 0 PE1 NX_Q8IV01 46537 421 5.37 11 Synaptic vesicle membrane NA 1 PE1 NX_Q8IV03 24583 231 4.98 9 Nucleolus;Nucleus NA 0 PE1 NX_Q8IV04 49712 446 9.03 11 Nucleus NA 0 PE1 NX_Q8IV08 54705 490 6.02 19 Endoplasmic reticulum membrane Spinocerebellar ataxia 46 1 PE1 NX_Q8IV13 48406 435 7.28 5 Nucleus speckle NA 0 PE2 NX_Q8IV16 19806 184 4.71 8 Apical cell membrane;Basolateral cell membrane;Cell membrane Hyperlipoproteinemia 1D 0 PE1 NX_Q8IV20 47780 430 6.64 13 Peroxisome Rheumatoid arthritis systemic juvenile 0 PE1 NX_Q8IV31 23729 216 4.7 7 Focal adhesion;Cell membrane;Membrane NA 1 PE1 NX_Q8IV32 49648 467 11.8 3 Nucleus membrane NA 0 PE1 NX_Q8IV33 147735 1275 6.18 5 NA NA 0 PE1 NX_Q8IV35 79295 697 8.76 3 NA NA 0 PE2 NX_Q8IV36 88745 788 5.69 17 Cytosol;Cytoplasm;Golgi apparatus membrane;Golgi apparatus NA 0 PE1 NX_Q8IV38 49299 441 5.88 7 Cytosol;Cytoplasm;Nucleus;Cilium;Nucleoplasm NA 0 PE1 NX_Q8IV42 39527 348 8.62 10 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_Q8IV45 57818 518 6.21 6 Cytoplasm;Centrosome;Membrane NA 1 PE1 NX_Q8IV48 40064 349 6.29 8 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_Q8IV50 23463 215 5.27 15 Mitochondrion;Nucleus NA 0 PE1 NX_Q8IV53 87065 801 5.46 19 Cytosol;Clathrin-coated vesicle NA 0 PE1 NX_Q8IV56 13715 129 9.64 7 Cytoplasmic vesicle;Cell junction NA 0 PE1 NX_Q8IV61 78332 690 6.33 2 Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q8IV63 52881 474 9.21 19 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q8IV76 87428 773 4.96 X Nucleus speckle;Nucleus NA 0 PE1 NX_Q8IV77 65999 575 5.4 11 Membrane NA 6 PE1 NX_Q8IVA1 14547 136 4.67 19 Cytoplasmic vesicle;Nucleus speckle NA 0 PE1 NX_Q8IVB4 72565 645 5.8 3 Late endosome membrane Autism 16 13 PE1 NX_Q8IVB5 36563 337 8.8 1 Cytosol NA 0 PE1 NX_Q8IVC4 48272 421 9.05 19 Nucleus speckle;Nucleus NA 0 PE1 NX_Q8IVD9 40822 361 5.16 7 Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q8IVE0 33334 287 10.84 1 NA NA 0 PE5 NX_Q8IVE3 168229 1493 7.5 2 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Lamellipodium;Cytoskeleton NA 0 PE1 NX_Q8IVF1 93890 878 8.6 10 NA NA 0 PE2 NX_Q8IVF2 616629 5795 5.2 14 Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q8IVF4 514841 4471 5.64 12 Cilium axoneme NA 0 PE1 NX_Q8IVF5 190103 1701 6.8 6 Nucleolus;Nucleoplasm;Cytoplasm;Cytosol;Filopodium;Lamellipodium;Growth cone NA 0 PE1 NX_Q8IVF6 115597 992 7.92 9 NA NA 0 PE2 NX_Q8IVF7 117213 1028 6.23 12 Cytosol;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus;Cell membrane NA 0 PE1 NX_Q8IVG5 184533 1584 8.25 7 Cytosol;Early endosome Ataxia-pancytopenia syndrome 0 PE1 NX_Q8IVG9 2687 24 9.49 MT Cytoplasm;Secreted NA 0 PE1 NX_Q8IVH2 73488 680 5.97 6 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q8IVH4 46538 418 9.37 4 Cytosol;Mitochondrion Methylmalonic aciduria type cblA 0 PE1 NX_Q8IVH8 101316 894 7.38 2 Centrosome NA 0 PE1 NX_Q8IVI9 57660 506 9.08 2 Cytoplasmic vesicle;Nucleus speckle;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 NX_Q8IVJ1 54901 513 5.12 1 Mitochondrion;Cell membrane NA 10 PE1 NX_Q8IVJ8 18525 170 10.7 3 Membrane NA 1 PE2 NX_Q8IVK1 5018 47 9.3 12 NA NA 0 PE5 NX_Q8IVL0 255648 2385 8.92 12 Cytosol;Nucleus membrane;Nucleus outer membrane NA 0 PE1 NX_Q8IVL1 268167 2488 9.13 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8IVL5 80984 708 5.48 3 Sarcoplasmic reticulum;Endoplasmic reticulum;Golgi apparatus Myopia, high, with cataract and vitreoretinal degeneration 0 PE1 NX_Q8IVL6 81837 736 5.93 12 Cytosol;Nucleolus;Cell membrane;Endoplasmic reticulum NA 0 PE1 NX_Q8IVL8 42529 374 6.6 2 Apical cell membrane NA 0 PE1 NX_Q8IVM0 35822 306 6.2 3 Cytosol;Cytoplasm Deafness, autosomal dominant, 44 0 PE1 NX_Q8IVM7 18094 164 9.29 13 NA NA 0 PE5 NX_Q8IVM8 62169 553 8.4 11 Basolateral cell membrane NA 12 PE1 NX_Q8IVN3 8911 82 9.87 3 Nucleus NA 0 PE1 NX_Q8IVN8 29610 264 7.71 8 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 NX_Q8IVP5 17178 155 8.67 X Mitochondrion outer membrane NA 3 PE1 NX_Q8IVP9 45956 402 8.71 19 Nucleus NA 0 PE1 NX_Q8IVQ6 31385 265 8.81 9 Cytosol;Golgi apparatus;Membrane NA 4 PE1 NX_Q8IVS2 42962 390 8.97 22 Mitochondrion NA 0 PE1 NX_Q8IVS8 55253 523 6.25 3 Mitochondrion;Cytoplasm;Cytosol;Golgi apparatus D-glyceric aciduria 0 PE1 NX_Q8IVT2 75357 679 6.36 19 Focal adhesion;Cell cortex;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q8IVT5 102160 923 8.94 17 Endoplasmic reticulum membrane;Cytoplasm;Cell membrane;Ruffle membrane;Membrane NA 0 PE1 NX_Q8IVU1 86724 814 7.58 15 Membrane NA 1 PE1 NX_Q8IVU3 115126 1022 8.22 4 Cytosol;Nucleus NA 0 PE1 NX_Q8IVU9 23883 208 4.36 10 Nucleoplasm;Cytoplasm;Cytosol;Flagellum;Centrosome NA 0 PE1 NX_Q8IVV2 235677 2067 5.38 18 Stereocilium Deafness, autosomal recessive, 77 0 PE1 NX_Q8IVV7 33514 300 9.26 17 Cytosol NA 0 PE1 NX_Q8IVV8 23240 208 5.43 20 Cell membrane NA 3 PE2 NX_Q8IVW1 19388 177 9.85 17 Golgi apparatus NA 0 PE1 NX_Q8IVW4 67514 592 9.35 5 Cytoplasmic vesicle;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q8IVW6 60637 561 7.05 15 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8IVW8 58044 549 9.43 17 Membrane NA 11 PE1 NX_Q8IVY1 12024 113 5.46 1 Recycling endosome;Membrane;Nucleolus;Cell membrane;Early endosome NA 1 PE1 NX_Q8IW00 36146 320 9.88 10 Cytoplasmic vesicle;Nucleus;Cell membrane;Secreted NA 1 PE1 NX_Q8IW03 30660 269 7.21 13 Mitochondrion NA 0 PE2 NX_Q8IW19 56956 511 4.98 2 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q8IW35 96981 865 4.92 3 Cytosol;Centrosome;Microtubule organizing center NA 0 PE1 NX_Q8IW36 60149 515 8.98 1 Nucleus speckle;Nucleus NA 0 PE1 NX_Q8IW40 27163 242 5.74 17 Cytosol;Cytoplasm;Flagellum Ciliary dyskinesia, primary, 17 0 PE1 NX_Q8IW41 54220 473 7.66 12 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q8IW45 36576 347 8.21 13 Mitochondrion NA 0 PE1 NX_Q8IW50 20400 185 4.53 9 Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q8IW52 94331 837 7.95 X Cytoskeleton;Cell membrane;Membrane NA 1 PE1 NX_Q8IW70 61506 566 6.72 6 Membrane NA 2 PE1 NX_Q8IW75 47175 414 9.31 14 Secreted NA 0 PE1 NX_Q8IW92 72079 636 7.2 11 Nucleus;Secreted NA 0 PE1 NX_Q8IW93 89197 802 7.31 1 Nucleus NA 0 PE1 NX_Q8IWA0 94499 830 5.65 2 Nucleoplasm;Nucleolus NA 0 PE1 NX_Q8IWA4 84160 741 5.93 3 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA 2 PE1 NX_Q8IWA5 80124 706 8.89 19 Cytoplasmic vesicle;Cell junction;Membrane NA 10 PE1 NX_Q8IWA6 63091 550 9.71 12 NA NA 0 PE1 NX_Q8IWB1 62060 547 5.58 10 Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_Q8IWB4 148734 1347 8.96 9 Membrane NA 1 PE2 NX_Q8IWB6 167901 1497 5.04 17 Kinetochore;Cytosol;Cytoplasm;Cell membrane;Cell junction;Cytoplasmic vesicle;Midbody Spermatogenic failure 23 0 PE1 NX_Q8IWB7 46324 410 6.99 2 Early endosome NA 0 PE1 NX_Q8IWB9 125303 1127 5.71 17 Nucleus;Membrane NA 2 PE1 NX_Q8IWC1 98429 876 9.34 X Spindle;Centrosome NA 0 PE1 NX_Q8IWD4 30541 279 4.99 22 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 NX_Q8IWD5 64005 586 8.87 17 Endoplasmic reticulum;Membrane NA 11 PE2 NX_Q8IWE2 60742 563 4.61 4 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q8IWE4 34291 304 5.05 16 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 NX_Q8IWE5 112780 1019 4.82 1 Cytoplasm NA 0 PE1 NX_Q8IWF2 77791 684 7.39 22 Endoplasmic reticulum lumen NA 0 PE1 NX_Q8IWF6 69575 608 8.52 3 Cytoplasmic vesicle;Cytoplasm;Recycling endosome NA 0 PE1 NX_Q8IWF7 8761 75 8.85 X NA NA 0 PE5 NX_Q8IWF9 48851 413 5.33 11 Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q8IWG1 102935 891 5.52 1 NA NA 0 PE1 NX_Q8IWI9 331836 3026 6.35 15 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q8IWJ2 195910 1684 5.1 2 Nucleoplasm;Cytoplasm;trans-Golgi network membrane;Golgi apparatus NA 0 PE1 NX_Q8IWK6 146151 1321 8.8 4 Membrane NA 7 PE1 NX_Q8IWL1 26182 248 5.07 10 Surface film;Extracellular matrix Pulmonary fibrosis, idiopathic 0 PE1 NX_Q8IWL2 26242 248 4.89 10 Surface film;Extracellular matrix Pulmonary fibrosis, idiopathic;Respiratory distress syndrome in premature infants 0 PE1 NX_Q8IWL3 27422 235 7.59 22 Cytosol;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q8IWL8 13652 128 4.72 17 Cytoplasm;Nucleus NA 0 PE1 NX_Q8IWN6 13808 122 9.87 X NA NA 0 PE2 NX_Q8IWN7 252289 2400 4.41 8 Photoreceptor outer segment;Cilium axoneme Occult macular dystrophy 0 PE1 NX_Q8IWP9 30367 274 9.32 6 Cytosol NA 0 PE1 NX_Q8IWQ3 81633 736 8.97 11 Perinuclear region;Endoplasmic reticulum;Golgi apparatus;Centrosome NA 0 PE1 NX_Q8IWR0 110538 971 7 16 Cytosol;Nucleus NA 0 PE1 NX_Q8IWR1 47114 403 6.36 3 Endoplasmic reticulum membrane NA 1 PE1 NX_Q8IWS0 41290 365 8.97 X Kinetochore;Nucleolus;Nucleus Boerjeson-Forssman-Lehmann syndrome 0 PE1 NX_Q8IWT0 19491 167 4.39 1 Cell membrane NA 0 PE1 NX_Q8IWT1 24969 228 6.9 11 Cell membrane Atrial fibrillation, familial, 17;Long QT syndrome 10 1 PE1 NX_Q8IWT3 281229 2517 5.3 6 Cytosol;Cytoplasm NA 0 PE1 NX_Q8IWT6 94199 810 8.15 9 Cell membrane Agammaglobulinemia 5, autosomal dominant 4 PE1 NX_Q8IWU2 164900 1503 4.35 7 Cytosol;Nucleus speckle;Microtubule organizing center;Cell membrane;Membrane NA 2 PE1 NX_Q8IWU4 40755 369 6.11 8 Secretory vesicle membrane;Cell membrane;Endoplasmic reticulum NA 6 PE1 NX_Q8IWU5 100455 870 9.3 20 Cell surface;Golgi stack;Endoplasmic reticulum NA 0 PE1 NX_Q8IWU6 101027 871 9.23 8 Cell surface;Golgi stack;Endoplasmic reticulum NA 0 PE1 NX_Q8IWU9 56057 490 6.03 12 NA Major depressive disorder;Attention deficit-hyperactivity disorder 7 0 PE1 NX_Q8IWV1 44085 398 4.85 1 Cytosol;Golgi apparatus;Cell membrane NA 1 PE1 NX_Q8IWV2 113454 1026 7.24 3 Cell membrane;Secreted NA 0 PE1 NX_Q8IWV7 200211 1749 5.67 15 Nucleoplasm;Cytoplasmic vesicle;Cytosol Johanson-Blizzard syndrome 0 PE1 NX_Q8IWV8 200538 1755 5.84 6 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q8IWW6 96254 846 7.29 10 NA NA 0 PE1 NX_Q8IWW8 50308 467 7.65 8 Cytoplasmic vesicle;Mitochondrion NA 0 PE1 NX_Q8IWX5 44741 399 9.17 2 Endoplasmic reticulum membrane NA 9 PE2 NX_Q8IWX7 103733 931 8.03 17 Cytosol Cataract 43 0 PE1 NX_Q8IWX8 103702 916 9.15 19 Cytoplasm;Perinuclear region;Endoplasmic reticulum NA 0 PE1 NX_Q8IWY4 107910 988 6.42 22 Cell membrane;Secreted NA 0 PE1 NX_Q8IWY8 96719 852 6.55 15 Nucleoplasm;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 NX_Q8IWY9 134120 1227 6.35 15 Cytosol;Cytoplasm;Nucleus;Cell membrane;Membrane Anemia, congenital dyserythropoietic, 1A 2 PE1 NX_Q8IWZ3 269458 2542 5.46 5 Cytoplasm NA 0 PE1 NX_Q8IWZ4 24498 208 8.69 11 NA NA 0 PE2 NX_Q8IWZ5 82745 723 8.3 3 Mitochondrion;Nucleoplasm NA 0 PE1 NX_Q8IWZ6 80353 715 5.7 4 Cytoplasm;Centriolar satellite;Cilium membrane;Cilium basal body Bardet-Biedl syndrome 7 0 PE1 NX_Q8IWZ8 72471 645 7.2 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8IX01 120207 1082 6.92 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8IX03 125301 1113 5.65 5 Cytoplasm;Perinuclear region;Nucleus;Ruffle membrane;Golgi apparatus NA 0 PE1 NX_Q8IX04 52264 471 6.61 11 Cytosol;Nucleus NA 0 PE1 NX_Q8IX05 26183 232 4.45 2 Microvillus;Cell cortex;Filopodium;Membrane NA 1 PE1 NX_Q8IX06 73855 675 9.33 8 Cytoplasm;Nucleus NA 0 PE5 NX_Q8IX07 104888 1006 8.14 16 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q8IX12 132821 1150 5.57 10 Perinuclear region NA 0 PE1 NX_Q8IX15 61240 550 4.86 14 Nucleolus;Nucleus NA 0 PE1 NX_Q8IX18 88560 779 8.93 17 Nucleus NA 0 PE1 NX_Q8IX19 21229 187 9.03 19 Membrane NA 1 PE1 NX_Q8IX21 131873 1173 9.09 10 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q8IX29 34588 292 10.05 8 Cytosol;Cytoplasmic vesicle;Cell membrane;Nucleoplasm NA 0 PE2 NX_Q8IX30 109282 993 7.85 6 Cell surface;Cell membrane;Secreted NA 0 PE1 NX_Q8IX90 46359 412 4.99 13 Kinetochore;Cytosol;Spindle;Cell membrane NA 0 PE1 NX_Q8IX94 87989 777 5.18 7 Membrane NA 1 PE2 NX_Q8IX95 18015 158 4.85 13 NA NA 0 PE5 NX_Q8IXA5 23431 215 8.27 17 Acrosome membrane;Secreted NA 1 PE1 NX_Q8IXB1 91080 793 6.78 2 Endoplasmic reticulum lumen NA 0 PE1 NX_Q8IXB3 19254 177 7.79 17 Perinuclear region;Cell membrane;Endomembrane system NA 2 PE1 NX_Q8IXE1 34696 308 7.99 14 Cell membrane NA 7 PE3 NX_Q8IXF0 100805 933 6.16 14 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8IXF9 31475 295 8.49 2 Membrane NA 6 PE2 NX_Q8IXH6 23980 220 6.33 20 Cytosol;PML body;Nucleus;Autophagosome NA 0 PE1 NX_Q8IXH7 66247 590 4.98 20 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q8IXH8 92416 832 4.8 20 Cytoskeleton;Cell membrane NA 1 PE1 NX_Q8IXI1 68118 618 5.55 16 Cytosol;Mitochondrion outer membrane NA 1 PE1 NX_Q8IXI2 70784 618 5.87 17 Mitochondrion outer membrane NA 1 PE1 NX_Q8IXJ6 43182 389 5.22 19 Cytoskeleton;Nucleolus;Perikaryon;Centriole;Cytosol;Cytoplasm;Centrosome;Myelin membrane;Perinuclear region;Nucleus;Growth cone;Spindle;Cell projection;Midbody;Chromosome NA 0 PE1 NX_Q8IXJ9 165432 1541 5.85 20 Nucleolus;Nucleus Bohring-Opitz syndrome;Myelodysplastic syndrome 0 PE1 NX_Q8IXK0 90713 858 8.93 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8IXK2 66938 581 6.35 9 Golgi apparatus membrane Colorectal cancer 1 1 PE1 NX_Q8IXL6 66234 584 7.65 7 Nucleoplasm;Cytosol;Golgi apparatus;Secreted Raine syndrome 0 PE1 NX_Q8IXL7 20702 192 7.01 12 Mitochondrion;Endoplasmic reticulum Deafness, autosomal recessive, 74 0 PE1 NX_Q8IXL9 19627 164 10.57 3 NA NA 0 PE1 NX_Q8IXM2 17900 172 6.74 17 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q8IXM3 15383 137 9.59 9 Mitochondrion NA 0 PE1 NX_Q8IXM6 29379 262 8.82 6 Nucleus inner membrane;Nucleus membrane NA 6 PE1 NX_Q8IXM7 31065 274 9.6 15 NA NA 0 PE1 NX_Q8IXN7 42864 391 6.22 1 Cytoplasm;Nucleolus NA 0 PE1 NX_Q8IXP5 25393 236 4.7 11 NA NA 0 PE2 NX_Q8IXQ3 21063 194 4.89 9 Cytosol;Cytoplasm;Centrosome;Nucleoplasm NA 0 PE1 NX_Q8IXQ4 38142 340 5.25 13 Nucleolus;Nucleus NA 0 PE1 NX_Q8IXQ5 65992 586 6.08 7 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Retinitis pigmentosa 42;Crisponi/Cold-induced sweating syndrome 3 0 PE1 NX_Q8IXQ6 96343 854 8.12 3 Nucleoplasm;Cytosol;Mitochondrion;Nucleus NA 0 PE1 NX_Q8IXQ8 29904 264 8.99 16 NA NA 0 PE2 NX_Q8IXQ9 29461 262 6.05 12 Mitochondrion matrix;Cytoplasm NA 0 PE1 NX_Q8IXR5 93514 827 5.98 2 Nucleus speckle;Golgi apparatus NA 0 PE1 NX_Q8IXR9 71046 622 9.33 12 NA NA 0 PE2 NX_Q8IXS0 57420 508 8.72 6 NA NA 0 PE2 NX_Q8IXS2 57297 484 6.96 12 Flagellum basal body;Cytoplasmic vesicle;Flagellum axoneme;Flagellum;Microtubule organizing center Ciliary dyskinesia, primary, 27 0 PE1 NX_Q8IXS6 42185 379 5.04 9 Cell membrane NA 0 PE1 NX_Q8IXS8 58647 530 8.01 2 Cytosol;Nucleus;Cell junction;Cell membrane NA 0 PE1 NX_Q8IXT1 111616 998 6.8 11 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q8IXT2 39124 367 9.18 19 Nucleus NA 0 PE1 NX_Q8IXT5 118103 1001 6.34 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8IXU6 41212 374 5.86 11 Mitochondrion;Membrane NA 10 PE1 NX_Q8IXV7 37676 354 8.61 3 Cytosol;Cytoplasm;Midbody Lymphoma, Hodgkin, classic 0 PE1 NX_Q8IXW0 70379 634 9.12 11 Cytosol NA 0 PE1 NX_Q8IXW5 69509 612 7.86 1 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q8IXX5 42826 376 9.28 1 Membrane NA 1 PE1 NX_Q8IXY8 35228 311 6.55 6 Cytosol;Nucleus;Golgi apparatus NA 0 PE1 NX_Q8IXZ2 101941 948 10.95 8 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q8IXZ3 48674 490 9.1 7 Nucleus NA 0 PE1 NX_Q8IY17 150954 1375 7.89 19 Endoplasmic reticulum membrane Laurence-Moon syndrome;Oliver-McFarlane syndrome;Boucher-Neuhauser syndrome;Spastic paraplegia 39, autosomal recessive 1 PE1 NX_Q8IY18 128806 1101 8.63 9 PML body;Telomere;Nucleus;Chromosome;Nucleus speckle NA 0 PE1 NX_Q8IY21 197853 1712 7.53 4 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q8IY22 86331 773 6.26 16 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 NX_Q8IY26 32194 295 10.03 9 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 4 PE1 NX_Q8IY31 15281 132 5.07 17 Golgi apparatus;cis-Golgi network;Centriole;Cytoskeleton;Cilium;Cilium basal body NA 0 PE1 NX_Q8IY33 97502 904 9.63 7 Cytosol;Cell membrane;Recycling endosome;Cell projection;Cytoskeleton;Tight junction NA 0 PE1 NX_Q8IY34 63560 581 9.27 11 Cytoplasmic vesicle;Lysosome membrane NA 12 PE1 NX_Q8IY37 129545 1157 8.36 12 Nucleus membrane NA 0 PE1 NX_Q8IY42 33742 314 4.36 4 Cell junction NA 0 PE1 NX_Q8IY45 28408 258 8.15 12 Centrosome NA 0 PE1 NX_Q8IY47 71331 623 5.42 7 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q8IY49 31264 270 8.97 7 Golgi apparatus membrane NA 7 PE1 NX_Q8IY50 46817 421 9.57 1 Nucleolus;Golgi apparatus;Cell membrane;Membrane NA 10 PE1 NX_Q8IY51 57468 512 6.05 4 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q8IY57 19901 180 9.74 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8IY63 106574 956 6.62 11 Cytosol;Cytoskeleton;Cell junction;Tight junction NA 0 PE1 NX_Q8IY67 63877 606 8.79 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q8IY81 96558 847 8.53 17 Nucleolus NA 0 PE1 NX_Q8IY82 103497 874 5.49 16 Flagellum axoneme;Flagellum;Cilium axoneme NA 0 PE1 NX_Q8IY84 49606 436 8.53 5 Cytosol NA 0 PE1 NX_Q8IY85 110129 973 6.15 17 Cytosol;Nucleus speckle;Nucleus NA 0 PE2 NX_Q8IY92 200012 1834 5.74 16 Cytosol;Nucleoplasm;Nucleus;Cell junction Fanconi anemia complementation group P 0 PE1 NX_Q8IY95 30922 271 8.13 4 Nucleoplasm;Endosome;Lysosome membrane;Late endosome;Lysosome NA 4 PE1 NX_Q8IYA2 143112 1237 5.51 17 NA NA 0 PE5 NX_Q8IYA6 83587 745 9.84 2 Cytosol;Spindle;Spindle pole Filippi syndrome 0 PE1 NX_Q8IYA7 39331 352 9.66 10 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_Q8IYA8 66343 594 8.55 3 Nucleoplasm;Chromosome NA 0 PE1 NX_Q8IYB0 21182 196 9.8 11 NA NA 0 PE5 NX_Q8IYB1 55800 491 6.58 3 Cytosol NA 0 PE1 NX_Q8IYB3 102335 904 11.84 1 Nucleus matrix;Nucleus speckle;Nucleus NA 0 PE1 NX_Q8IYB4 69697 626 5.18 3 Cytoplasm;Membrane NA 0 PE1 NX_Q8IYB5 50386 467 8.92 6 Cytosol;Golgi apparatus;Cell membrane NA 0 PE1 NX_Q8IYB7 99279 885 5.74 2 Cytoplasm;P-body Perlman syndrome 0 PE1 NX_Q8IYB8 87991 786 8.21 10 Mitochondrion;Mitochondrion matrix;Mitochondrion nucleoid;Nucleus NA 0 PE1 NX_Q8IYB9 74302 648 9.3 4 Nucleus NA 0 PE1 NX_Q8IYD1 68883 628 5.31 X Cytosol;Cytoplasm NA 0 PE1 NX_Q8IYD2 38859 350 9.36 1 NA NA 0 PE2 NX_Q8IYD8 232191 2048 5.76 14 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8IYD9 41811 372 8.43 18 Nucleoplasm;Secreted NA 0 PE1 NX_Q8IYE0 112806 955 8.59 7 Centriole;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_Q8IYE1 80884 715 8.82 3 Centriolar satellite;Centrosome;Cilium basal body NA 0 PE1 NX_Q8IYF1 83921 753 9.76 18 Nucleus NA 0 PE1 NX_Q8IYF3 107889 940 5.07 X Chromosome Spermatogenic failure, X-linked, 2 0 PE1 NX_Q8IYG6 58733 542 8.05 11 NA NA 0 PE2 NX_Q8IYH5 102023 903 5.48 1 Nucleolus;Nucleus NA 0 PE1 NX_Q8IYI0 22938 205 4.72 20 Cytoplasmic vesicle;Endoplasmic reticulum;Chromosome;Golgi apparatus NA 0 PE1 NX_Q8IYI6 81799 725 5.35 1 Cytosol;Cytoplasm;Perinuclear region;Cell projection;Growth cone NA 0 PE1 NX_Q8IYI8 69106 595 9.33 19 Nucleus NA 0 PE1 NX_Q8IYJ0 30076 282 9.29 12 Nucleoplasm;Membrane NA 1 PE1 NX_Q8IYJ1 61864 553 5.18 3 NA NA 0 PE1 NX_Q8IYJ2 63656 551 8.91 10 Mitochondrion;Nucleus speckle;Nucleolus;Nucleoplasm NA 0 PE1 NX_Q8IYJ3 61857 562 5.32 1 Cell membrane NA 0 PE1 NX_Q8IYK2 56909 499 9.89 19 NA NA 0 PE1 NX_Q8IYK4 72924 626 5.82 1 Cytoplasmic vesicle;Endoplasmic reticulum lumen;Nucleus NA 0 PE1 NX_Q8IYK8 37139 340 8.33 14 Cell membrane NA 0 PE1 NX_Q8IYL2 84629 757 6.98 4 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q8IYL3 25977 243 6.45 1 Nucleus NA 0 PE1 NX_Q8IYL9 39333 337 8.12 14 Cytosol;Cell membrane NA 7 PE1 NX_Q8IYM0 103722 893 9.08 12 NA NA 0 PE1 NX_Q8IYM1 40748 358 6.67 16 Flagellum;Cytoplasm;Spindle;Nucleus;Cytoskeleton Spermatogenic failure 10 0 PE1 NX_Q8IYM2 66972 578 8.84 17 NA NA 0 PE1 NX_Q8IYM9 56947 498 7.97 11 Nucleoplasm;Nucleus speckle;Cytoplasm;Nucleus;Cajal body NA 0 PE1 NX_Q8IYN0 62745 542 9.17 19 Nucleus NA 0 PE1 NX_Q8IYN2 13616 117 5.32 X Nucleoplasm;Nucleus NA 0 PE1 NX_Q8IYN6 17877 164 6.78 17 NA NA 0 PE1 NX_Q8IYP2 27085 241 6.36 7 Secreted NA 0 PE1 NX_Q8IYP9 45983 409 8.97 3 Nucleus;Membrane NA 6 PE1 NX_Q8IYQ7 83070 743 6.69 10 Cytosol;Mitochondrion;Nucleus NA 0 PE1 NX_Q8IYR0 71193 622 6.38 6 Nucleoplasm;Cell junction;Cilium axoneme NA 0 PE1 NX_Q8IYR2 89225 804 6.39 17 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_Q8IYR6 40934 380 6.27 9 Cell membrane NA 1 PE1 NX_Q8IYS0 76035 662 6.81 3 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA 1 PE1 NX_Q8IYS1 47776 436 5.56 6 Nucleoplasm NA 0 PE1 NX_Q8IYS2 69157 634 8.44 1 Cytosol;Golgi apparatus;Membrane NA 1 PE1 NX_Q8IYS4 55682 520 4.83 16 Nucleus speckle NA 0 PE1 NX_Q8IYS5 30481 282 6.09 19 Cell membrane;Secreted NA 0 PE1 NX_Q8IYS8 18075 172 5.1 18 Kinetochore;Centrosome NA 0 PE1 NX_Q8IYT1 63177 594 9.67 1 NA NA 0 PE1 NX_Q8IYT2 88120 770 6.57 16 Nucleus speckle;Nucleus;Cell junction;Cytoplasm NA 0 PE1 NX_Q8IYT3 82277 715 6.22 6 Cell junction;Golgi apparatus NA 0 PE1 NX_Q8IYT4 61253 538 7.22 18 Nucleoplasm;Cytoplasm;Cytoskeleton;Spindle pole;Spindle NA 0 PE1 NX_Q8IYT8 112694 1036 8.84 17 Cytoplasmic vesicle membrane NA 0 PE1 NX_Q8IYU2 102342 909 5.58 6 Golgi stack membrane;Nucleus;Endoplasmic reticulum;Cytoplasm Spastic paraplegia and psychomotor retardation with or without seizures 0 PE1 NX_Q8IYU4 52897 475 5.67 11 NA NA 0 PE1 NX_Q8IYU8 49666 434 9.17 13 Mitochondrion;Nucleus;Mitochondrion intermembrane space NA 0 PE1 NX_Q8IYV9 38930 350 6.11 19 Acrosome membrane;Cell membrane NA 1 PE1 NX_Q8IYW2 303500 2715 7.07 10 Cilium axoneme NA 0 PE1 NX_Q8IYW4 67538 607 6.16 22 NA NA 0 PE1 NX_Q8IYW5 65020 571 8.26 3 Nucleoplasm;Nucleus Riddle syndrome 0 PE1 NX_Q8IYX0 47179 411 9.17 7 Nucleus NA 0 PE1 NX_Q8IYX1 39221 336 5.81 15 Cytoskeleton;Acrosome NA 0 PE1 NX_Q8IYX3 67946 613 8.83 22 Centrosome NA 0 PE1 NX_Q8IYX4 38687 353 9.74 5 Cytoplasm;Nucleus NA 0 PE1 NX_Q8IYX7 54621 474 8.68 9 Centriole;Flagellum axoneme;Centrosome;Cilium axoneme;Cilium basal body NA 0 PE1 NX_Q8IYX8 53649 460 8.82 6 Cytosol;Centrosome;Cell membrane NA 0 PE1 NX_Q8IYY4 86848 767 6.85 3 Centriole;Nucleoplasm;Cytoskeleton;Cilium basal body Polycystic kidney disease 5 0 PE1 NX_Q8IZ02 51277 464 6.32 3 Cytoplasm;Cytoskeleton;Nucleolus;Nucleus;Cell junction NA 0 PE1 NX_Q8IZ07 67619 590 4.93 12 Late endosome;Cell membrane NA 0 PE1 NX_Q8IZ08 51736 494 9.88 14 Endosome membrane;Cell membrane NA 7 PE1 NX_Q8IZ13 68327 594 5.98 5 Nucleoplasm NA 0 PE1 NX_Q8IZ16 23862 206 10.41 7 Cytoplasmic vesicle NA 0 PE1 NX_Q8IZ20 56905 524 9.01 1 Nucleus NA 0 PE1 NX_Q8IZ21 78211 702 6.2 1 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane;Lamellipodium NA 0 PE1 NX_Q8IZ26 64038 560 9.05 8 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q8IZ40 58012 523 9.08 11 Cytoplasmic vesicle;Nucleus;Midbody NA 0 PE1 NX_Q8IZ41 82879 740 4.99 9 Perinuclear region;Cytoskeleton NA 0 PE1 NX_Q8IZ52 85467 775 6.45 2 Golgi stack membrane;Cytosol;Cytoplasmic vesicle;Mitochondrion matrix;Mitochondrion;Centrosome NA 1 PE1 NX_Q8IZ57 21475 195 7.61 6 Cytoplasmic vesicle;Nucleus;Membrane NA 2 PE1 NX_Q8IZ63 43980 422 4.97 19 Cytosol;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q8IZ69 68726 625 8.21 22 Cytosol;Nucleus NA 0 PE1 NX_Q8IZ73 61311 545 6.72 15 Nucleoplasm;Cytoskeleton NA 0 PE1 NX_Q8IZ81 34961 293 8.12 4 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q8IZ83 85127 802 6.35 19 Mitochondrion NA 0 PE1 NX_Q8IZ96 18576 169 6.5 16 Nucleoplasm;Membrane NA 4 PE1 NX_Q8IZA0 115658 1049 5.71 1 Nucleolus;trans-Golgi network membrane;Cytoplasmic granule membrane;Golgi apparatus;Cell membrane;Golgi apparatus membrane NA 2 PE1 NX_Q8IZA3 35813 346 11.27 3 Cytoplasm;Nucleus;Chromosome NA 0 PE2 NX_Q8IZC4 69304 609 8.03 10 Mitochondrion;Nucleoplasm NA 0 PE1 NX_Q8IZC6 186892 1860 9.83 9 Extracellular matrix Steel syndrome 0 PE1 NX_Q8IZC7 50339 436 9.67 19 Nucleus NA 0 PE1 NX_Q8IZD0 45056 417 9.41 17 Nucleolus;Nucleus NA 0 PE1 NX_Q8IZD2 204965 1858 7.41 7 Nucleus speckle;Nucleoplasm;Cytoplasm;Cell membrane;Centrosome;Chromosome NA 0 PE1 NX_Q8IZD4 67723 617 8.75 12 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q8IZD6 60540 547 5.41 1 Membrane NA 12 PE1 NX_Q8IZD9 233103 2030 6.52 3 Cytosol;Cytoplasm NA 0 PE1 NX_Q8IZE3 82857 742 4.96 1 Cytoplasm;Cytoskeleton;Nucleus;Golgi apparatus;Lamellipodium NA 0 PE1 NX_Q8IZF0 200331 1738 8.93 13 Membrane Congenital contractures of the limbs and face, hypotonia, and developmental delay;Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 24 PE1 NX_Q8IZF2 149457 1346 6.23 6 Cell membrane NA 7 PE1 NX_Q8IZF3 77719 695 9.23 6 Mitochondrion;Membrane NA 7 PE1 NX_Q8IZF4 59000 528 8.69 16 Cytoplasmic vesicle;Nucleoplasm;Cell membrane;Nucleus membrane NA 7 PE1 NX_Q8IZF5 116341 1079 7.44 2 Membrane NA 7 PE2 NX_Q8IZF6 333368 3080 5.82 X Membrane NA 7 PE2 NX_Q8IZF7 78569 708 8.45 6 Membrane NA 7 PE2 NX_Q8IZH2 194107 1706 6.78 3 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q8IZI9 21706 196 8.69 19 Secreted NA 0 PE1 NX_Q8IZJ0 22288 200 8.15 19 Secreted NA 0 PE2 NX_Q8IZJ1 103638 945 5.68 10 Membrane raft;Cell membrane NA 1 PE1 NX_Q8IZJ3 206702 1885 6 19 Cell membrane;Secreted Anterior segment dysgenesis 8 0 PE1 NX_Q8IZJ4 52346 473 8.17 22 Cytoplasmic vesicle;Centrosome NA 0 PE2 NX_Q8IZJ6 25407 230 9.58 8 Mitochondrion NA 0 PE2 NX_Q8IZK6 65942 566 7.73 1 Late endosome membrane;Cytoskeleton;Lysosome membrane;Recycling endosome membrane;Cell membrane NA 6 PE1 NX_Q8IZL2 125197 1156 9.45 11 Nucleoplasm;Nucleus speckle;Nucleus;Cytosol NA 0 PE1 NX_Q8IZL8 119700 1130 4.29 17 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q8IZL9 38695 346 6.27 9 Nucleoplasm;Cytoplasm;Nucleus;Cilium NA 0 PE1 NX_Q8IZM0 9081 81 11.39 4 NA NA 0 PE5 NX_Q8IZM8 65854 581 5.36 3 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q8IZM9 50929 456 8.02 14 Cytoskeleton;Cell junction;Cell membrane NA 11 PE1 NX_Q8IZN3 53388 488 8.59 6 Mitochondrion;Nucleolus;Membrane NA 4 PE1 NX_Q8IZN7 7846 70 9.45 8 Secreted NA 0 PE2 NX_Q8IZP0 55081 508 6.57 10 Cytoplasm;Cell membrane;Growth cone;Nucleus;Filopodium;Postsynaptic density;Lamellipodium;Cytoskeleton;Cell junction NA 0 PE1 NX_Q8IZP1 62187 549 9.24 17 Cell membrane NA 0 PE1 NX_Q8IZP2 27407 240 5.01 13 Cytoplasm NA 0 PE5 NX_Q8IZP6 36259 322 7.54 13 NA NA 0 PE1 NX_Q8IZP7 54844 471 6.39 13 Nucleoplasm;Cytoskeleton;Nucleus membrane;Membrane NA 1 PE1 NX_Q8IZP9 111593 1017 7.66 X Cytosol;Apical cell membrane;Cell membrane Congenital bilateral aplasia of the vas deferens, X-linked 7 PE1 NX_Q8IZQ1 395258 3526 6.3 4 PML body;Nucleolus;Perikaryon;Nucleus membrane;Cytosol;Cell membrane;Axon;Membrane Microcephaly 18, primary, autosomal dominant 0 PE1 NX_Q8IZQ5 13453 122 9.76 11 Nucleolus;Nucleus NA 0 PE1 NX_Q8IZQ8 101997 938 6.17 17 Nucleus NA 0 PE1 NX_Q8IZR5 25828 234 7.65 16 Cytoplasmic vesicle;Cell membrane;Golgi apparatus;Membrane NA 4 PE1 NX_Q8IZS5 26754 231 5.89 6 NA NA 0 PE1 NX_Q8IZS6 23176 198 9.34 6 Cytoplasmic granule;Cytoskeleton;Membrane NA 0 PE1 NX_Q8IZS7 19115 167 9.44 12 Cell membrane NA 1 PE2 NX_Q8IZS8 123011 1091 5.53 3 Cytosol;Nucleus;Membrane NA 1 PE1 NX_Q8IZT6 409800 3477 10.45 1 Cytosol;Cytoplasm;Spindle;Nucleus;Cell membrane Microcephaly 5, primary, autosomal recessive 0 PE1 NX_Q8IZT8 40408 346 9.8 6 Golgi apparatus membrane NA 1 PE1 NX_Q8IZT9 19210 166 5.16 X Nucleus NA 0 PE1 NX_Q8IZU0 22438 186 5.31 X Nucleoplasm;Nucleus NA 0 PE1 NX_Q8IZU1 37339 332 4.82 X Nucleolus NA 0 PE1 NX_Q8IZU2 147703 1322 6.01 4 Nucleus speckle NA 0 PE1 NX_Q8IZU3 27729 236 9.22 12 Nucleus;Centromere;Chromosome Spermatogenic failure 4;Pregnancy loss, recurrent, 4 0 PE1 NX_Q8IZU8 139238 1212 8.48 18 Nucleoplasm;Cell membrane;Membrane NA 2 PE1 NX_Q8IZU9 85255 778 6.46 11 Cell membrane;Secreted NA 1 PE1 NX_Q8IZV2 19572 173 6.06 3 Nucleoplasm;Cytoplasm;Nucleus;Membrane NA 4 PE1 NX_Q8IZV5 38087 341 7.11 8 Endoplasmic reticulum membrane;Microsome membrane;Lipid droplet NA 1 PE1 NX_Q8IZW8 76764 715 7.01 17 Focal adhesion;Cytoskeleton NA 0 PE1 NX_Q8IZX4 207302 1826 5.26 9 Nucleus NA 0 PE1 NX_Q8IZY2 234350 2146 6.85 19 Early endosome membrane;Golgi apparatus membrane;Golgi apparatus;Cell membrane;Cell junction Alzheimer disease 9 15 PE1 NX_Q8IZY5 12045 108 6.73 11 Mitochondrion;Cytoplasm NA 0 PE1 NX_Q8J025 58797 514 8.43 18 Cell membrane Hypotrichosis 1 1 PE1 NX_Q8MH63 18779 180 6.72 16 Membrane NA 3 PE5 NX_Q8N0S2 39699 351 5.89 10 Cytosol;Nucleoplasm;Nucleus;Chromosome Premature ovarian failure 12;Spermatogenic failure, 15 0 PE1 NX_Q8N0S6 38998 344 6.08 1 Nucleus;Centromere NA 0 PE1 NX_Q8N0T1 11456 100 10.46 8 Mitochondrion;Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q8N0U2 22170 210 4.54 1 Membrane NA 2 PE2 NX_Q8N0U4 42301 392 8.22 7 Cytosol NA 0 PE1 NX_Q8N0U6 13361 118 4.89 6 NA NA 0 PE5 NX_Q8N0U7 62035 546 8.82 1 NA NA 0 PE1 NX_Q8N0U8 19836 176 9.28 7 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 4 PE1 NX_Q8N0V1 14971 137 9.08 21 NA NA 0 PE5 NX_Q8N0V3 38359 343 8.01 18 Mitochondrion NA 0 PE1 NX_Q8N0V4 62298 545 6.47 4 Centrosome;Secreted NA 0 PE1 NX_Q8N0V5 45873 402 6.73 6 Golgi apparatus membrane;Golgi apparatus Cataract 13, with adult i phenotype 1 PE1 NX_Q8N0W3 117623 1084 5.84 16 Cytoplasmic vesicle NA 0 PE1 NX_Q8N0W4 91915 816 5.78 X Postsynaptic density;Cell membrane Asperger syndrome, X-linked, 2;Autism, X-linked 2 1 PE1 NX_Q8N0W5 33292 287 8.49 16 Cytosol;Nucleus speckle;Nucleolus;Nucleus NA 0 PE1 NX_Q8N0W7 29241 255 9.19 X Membrane NA 2 PE1 NX_Q8N0X2 70818 631 5.9 2 Flagellum axoneme;Flagellum;Cytosol;Cytoplasm;Cell membrane;Cilium axoneme NA 0 PE1 NX_Q8N0X4 37359 340 8.88 13 Cytosol;Mitochondrion NA 0 PE1 NX_Q8N0X7 72833 666 5.66 13 Cytosol;Cytoplasm;Midbody;Cell membrane Spastic paraplegia 20, autosomal recessive 0 PE1 NX_Q8N0Y2 35204 327 8.9 19 Nucleolus;Nucleus NA 0 PE1 NX_Q8N0Y3 35724 316 9.03 15 Centrosome;Cell membrane NA 7 PE2 NX_Q8N0Y5 34661 310 8.56 11 Cell membrane NA 7 PE2 NX_Q8N0Y7 28777 254 6.19 X NA NA 0 PE1 NX_Q8N0Z2 43117 381 8.7 8 Sarcomere;Cytoskeleton NA 0 PE1 NX_Q8N0Z3 96264 855 7.03 3 Centriole;Spindle;Centrosome NA 0 PE1 NX_Q8N0Z6 48928 440 6.05 14 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q8N0Z8 33233 303 9.89 1 Cytoplasmic vesicle NA 0 PE1 NX_Q8N0Z9 59217 540 4.62 12 Cytosol;Membrane;Cell membrane;Microtubule organizing center NA 1 PE1 NX_Q8N100 16871 152 9.61 10 Nucleus Persistent hyperplastic primary vitreous, autosomal recessive 0 PE1 NX_Q8N103 80703 731 6.04 6 NA NA 0 PE1 NX_Q8N104 7369 65 8.96 8 Membrane;Secreted NA 0 PE1 NX_Q8N108 57983 512 4.34 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q8N109 40678 375 8.36 19 Cell membrane NA 1 PE3 NX_Q8N111 14954 149 9.24 11 Mitochondrion;Membrane NA 1 PE1 NX_Q8N112 17868 164 5.69 3 Membrane NA 1 PE1 NX_Q8N114 25582 240 6.26 3 Endoplasmic reticulum membrane;Nucleus membrane NA 1 PE1 NX_Q8N118 58875 509 8.74 1 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_Q8N119 65043 569 9.19 10 Secreted Heterotaxy, visceral, 7, autosomal 0 PE2 NX_Q8N122 149038 1335 6.43 17 Cytoplasm;Cytoplasmic granule;Nucleoplasm;Cytosol;Lysosome NA 0 PE1 NX_Q8N123 34727 301 8.9 X NA NA 0 PE2 NX_Q8N126 43300 398 5.71 1 Cell junction;Cell membrane NA 1 PE1 NX_Q8N127 36653 324 8.63 11 Cell membrane NA 7 PE3 NX_Q8N128 23757 213 4.4 14 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 NX_Q8N129 28310 248 4.6 7 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q8N130 63550 599 8.62 9 Membrane Hereditary hypophosphatemic rickets with hypercalciuria 8 PE1 NX_Q8N131 21531 208 8.76 11 Cytoplasmic vesicle;Cytosol;Golgi apparatus;Cell membrane;Membrane NA 1 PE1 NX_Q8N135 59141 537 7.28 19 Golgi apparatus;Secreted Arthrogryposis multiplex congenita, neurogenic, with myelin defect 0 PE1 NX_Q8N136 45777 415 6.12 2 Nucleoplasm;Nucleus;Cilium NA 0 PE1 NX_Q8N137 101253 903 5.41 17 Centriole;Cytosol;Centrosome NA 0 PE1 NX_Q8N138 17495 153 9.64 17 Endoplasmic reticulum membrane Asthma 2 PE1 NX_Q8N139 184286 1617 7.05 17 Nucleoplasm;Membrane NA 14 PE1 NX_Q8N140 38168 333 5.03 12 Cytoplasm;Nucleolus;Nucleus;Telomere NA 0 PE1 NX_Q8N141 62578 532 9.2 19 Cytosol;Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_Q8N142 50208 457 8.76 14 Cytoplasm Myopathy, distal, 5 0 PE1 NX_Q8N143 51531 479 9.23 17 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q8N144 31933 294 8.94 17 Gap junction;Cell membrane NA 4 PE1 NX_Q8N145 61704 548 8.15 8 Cytosol;Synaptosome;Synaptic vesicle;Secreted NA 0 PE1 NX_Q8N146 35219 312 8.53 11 Cell membrane NA 7 PE3 NX_Q8N148 34902 313 8.32 7 Cell membrane NA 7 PE2 NX_Q8N149 52992 483 6.43 19 Cell membrane;Secreted NA 1 PE1 NX_Q8N157 137115 1196 6.67 6 Centriole;Cytoplasm;Cilium basal body;Centrosome;Adherens junction Joubert syndrome 3 0 PE1 NX_Q8N158 62830 579 8.33 7 Extracellular space;Nucleolus;Golgi apparatus;Cell membrane;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q8N159 58156 534 9.12 17 Mitochondrion;Mitochondrion matrix N-acetylglutamate synthase deficiency 0 PE1 NX_Q8N162 35422 312 9.03 11 Cell membrane NA 7 PE3 NX_Q8N163 102902 923 5.14 8 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q8N165 38546 341 6.42 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8N183 19856 169 8.94 5 Mitochondrion Mitochondrial complex I deficiency;Leigh syndrome 0 PE1 NX_Q8N184 75164 647 9.3 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q8N187 80698 725 5.47 2 Cytosol;Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 NX_Q8N196 74562 739 4.93 19 Cytoplasm;Nucleus Branchiootorenal syndrome 2 0 PE1 NX_Q8N1A0 34158 295 5.63 17 Cytoplasmic vesicle;Lipid droplet NA 0 PE1 NX_Q8N1A6 23468 199 5.27 4 Nucleus;Golgi apparatus NA 0 PE1 NX_Q8N1B3 28369 248 5.84 X Cytoplasm;Nucleus Toe syndactyly, telecanthus, and anogenital and renal malformations 0 PE1 NX_Q8N1B4 82221 723 5.7 6 Endosome membrane;Recycling endosome;trans-Golgi network membrane NA 0 PE1 NX_Q8N1C3 53595 465 8.39 4 Postsynaptic cell membrane;Cell membrane NA 4 PE2 NX_Q8N1D0 27061 253 9.87 11 Nucleoplasm;Nucleus NA 0 PE2 NX_Q8N1D5 23067 194 9.73 1 Cytosol NA 0 PE1 NX_Q8N1E2 21431 194 8.47 2 Secreted NA 0 PE2 NX_Q8N1E6 45886 418 9.15 12 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus NA 0 PE1 NX_Q8N1F1 13824 130 9.49 17 Mitochondrion NA 0 PE5 NX_Q8N1F7 93488 819 5.5 16 Nuclear pore complex;Nucleus;Nucleus envelope;Nucleus membrane Nephrotic syndrome 12 0 PE1 NX_Q8N1F8 120259 1088 5.24 2 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q8N1G0 129529 1237 8.56 1 Nucleoplasm;Cytoplasm;Nucleus Paget disease of bone 6 0 PE1 NX_Q8N1G1 131510 1221 9.12 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8N1G2 95321 835 6.64 6 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q8N1G4 63473 583 8.55 1 Nucleolus NA 0 PE1 NX_Q8N1H7 68166 587 5.39 14 Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_Q8N1I0 225206 1966 7.57 7 Cytosol;Nucleolus;Cell projection;Golgi apparatus;Cell membrane NA 0 PE1 NX_Q8N1I8 22698 211 6.31 19 NA NA 0 PE2 NX_Q8N1K5 73452 641 5.62 6 Cytoplasm;Nucleus NA 0 PE1 NX_Q8N1L1 18115 170 6.03 22 NA NA 0 PE5 NX_Q8N1L4 40159 340 9.25 1 Membrane NA 1 PE5 NX_Q8N1L9 29398 274 7.2 11 Nucleolus;Nucleus NA 0 PE1 NX_Q8N1M1 76107 668 6.13 12 Cytoplasm;Cell membrane NA 4 PE2 NX_Q8N1N0 65519 589 6.23 2 Membrane NA 1 PE2 NX_Q8N1N2 22529 210 5.27 18 Golgi apparatus membrane;Cell membrane NA 1 PE1 NX_Q8N1N4 56866 520 5.79 12 NA NA 0 PE1 NX_Q8N1N5 48076 446 8.42 4 Cytoplasm;Nucleus;Membrane NA 0 PE1 NX_Q8N1P7 68646 616 4.99 1 Nucleoplasm NA 0 PE1 NX_Q8N1Q1 29443 262 6.45 8 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 NX_Q8N1Q8 27677 247 7.61 1 Mitochondrion matrix NA 0 PE1 NX_Q8N1S5 35396 342 5.44 17 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane;Golgi apparatus NA 7 PE1 NX_Q8N1T3 119037 1032 9.19 12 NA NA 0 PE1 NX_Q8N1V2 68298 620 6.51 17 Cytoplasm;Flagellum NA 0 PE1 NX_Q8N1V8 13299 128 7.66 10 NA NA 0 PE5 NX_Q8N1W1 191891 1705 5.69 5 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q8N1W2 74461 664 6.33 15 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 NX_Q8N1X5 16487 172 12.11 6 NA NA 0 PE2 NX_Q8N1Y9 24915 231 6.89 9 Membrane NA 1 PE5 NX_Q8N201 244297 2190 5.77 7 Nucleoplasm;Nucleus membrane NA 1 PE1 NX_Q8N205 43512 404 5.48 19 Nucleus outer membrane Deafness, autosomal recessive, 76 1 PE1 NX_Q8N228 45023 414 9.78 6 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8N239 70612 644 5.41 X NA NA 0 PE2 NX_Q8N257 13908 126 10.31 1 Nucleus;Chromosome NA 0 PE1 NX_Q8N264 84258 748 6.24 4 Cytosol;Cell membrane;Focal adhesion;Adherens junction;Cytoskeleton;Cell projection NA 0 PE1 NX_Q8N268 14459 126 9.37 20 NA NA 0 PE2 NX_Q8N271 91883 834 5.8 2 Apical cell membrane;Basolateral cell membrane;Nucleoplasm;Cell membrane;Cilium membrane;Microvillus membrane;Cell junction NA 5 PE1 NX_Q8N283 109966 1001 5.76 1 NA NA 0 PE1 NX_Q8N292 17883 157 8.67 5 Cell membrane NA 1 PE1 NX_Q8N2A0 18329 174 6.74 X NA NA 0 PE5 NX_Q8N2A8 28273 252 9.53 17 Mitochondrion outer membrane NA 1 PE1 NX_Q8N2B8 19079 174 11.57 2 NA NA 0 PE2 NX_Q8N2C3 33694 294 6.71 12 Cytoskeleton NA 0 PE2 NX_Q8N2C7 363390 3258 6.4 2 Cytoplasmic vesicle;Membrane Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 4 PE1 NX_Q8N2C9 18019 162 7.18 21 NA NA 0 PE2 NX_Q8N2E2 176780 1590 5.42 7 Cytosol;Nucleoplasm;Secreted NA 0 PE1 NX_Q8N2E6 26262 242 10.17 9 Secreted NA 0 PE1 NX_Q8N2F6 37540 343 6.16 7 Mitochondrion;Endoplasmic reticulum membrane NA 1 PE1 NX_Q8N2G4 15240 141 8.4 2 Cell membrane;Endoplasmic reticulum NA 0 PE1 NX_Q8N2G6 26955 241 8.97 10 Mitochondrion;Nucleoplasm NA 0 PE1 NX_Q8N2G8 57523 530 8.05 17 Nucleus envelope;Endoplasmic reticulum NA 0 PE1 NX_Q8N2H3 63068 581 6.47 10 Mitochondrion NA 0 PE1 NX_Q8N2H4 17615 156 7.62 20 Golgi apparatus membrane NA 4 PE1 NX_Q8N2H9 50755 469 7.24 11 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 NX_Q8N2I2 63322 560 8.72 3 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q8N2I9 49001 435 8.04 1 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q8N2K0 45097 398 8.87 20 Membrane Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 1 PE1 NX_Q8N2K1 28898 259 8.6 1 Endoplasmic reticulum membrane NA 1 PE1 NX_Q8N2M4 26398 240 8.92 11 Nucleoplasm;Golgi apparatus;Membrane NA 7 PE2 NX_Q8N2M8 77161 674 10.44 19 Nucleus NA 0 PE1 NX_Q8N2N9 153582 1353 9.01 2 NA NA 0 PE1 NX_Q8N2Q7 93835 840 5.79 3 Postsynaptic density;Synapse;Nucleus;Cell membrane NA 1 PE1 NX_Q8N2R0 35513 312 9.66 8 Nucleus;Cell membrane NA 0 PE1 NX_Q8N2R8 45776 423 6.1 3 Cytoplasmic vesicle NA 0 PE1 NX_Q8N2S1 173435 1624 5.27 19 Extracellular matrix Duchenne muscular dystrophy;Urban-Rifkin-Davis syndrome 0 PE1 NX_Q8N2U0 11742 113 9.1 17 Cytoplasmic vesicle;Membrane NA 2 PE1 NX_Q8N2U9 30478 271 8.34 18 Nucleoplasm;Membrane NA 6 PE1 NX_Q8N2W9 56504 510 5.84 19 Nucleoplasm;PML body NA 0 PE1 NX_Q8N2X6 12661 119 11.04 5 Secreted NA 0 PE1 NX_Q8N2Y8 161225 1516 6.17 9 Cytosol Mental retardation, autosomal recessive 61 0 PE1 NX_Q8N2Z9 15893 138 5.83 1 Kinetochore;Centromere;Nucleus NA 0 PE1 NX_Q8N300 7808 66 9.21 1 Cytosol;Nucleoplasm;Secreted;Nucleus;Cytoplasm NA 0 PE1 NX_Q8N302 80977 714 5.29 5 Cytoplasm;Secreted Klippel-Trenaunay syndrome 0 PE1 NX_Q8N307 71982 709 4.95 3 Apical cell membrane;Basolateral cell membrane;Secreted;Nucleoplasm;Cell membrane;Cytosol;Microvillus membrane NA 0 PE1 NX_Q8N309 73022 656 5.17 12 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_Q8N319 26113 242 12.2 6 Nucleolus NA 0 PE2 NX_Q8N323 63178 547 8.78 11 Secreted NA 0 PE1 NX_Q8N326 17766 155 10.01 10 Membrane NA 1 PE2 NX_Q8N328 67595 593 7.81 10 Nucleus NA 0 PE1 NX_Q8N335 38419 351 6.61 3 Cytoplasm Brugada syndrome 2 0 PE1 NX_Q8N336 39052 334 8.78 11 Cytosol;Nucleoplasm NA 0 PE1 NX_Q8N339 6110 61 8.05 16 NA NA 0 PE1 NX_Q8N344 59944 545 4.53 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q8N349 35634 312 9.09 1 Cell membrane NA 7 PE2 NX_Q8N350 73929 705 5.96 19 Nucleoplasm;Synaptic vesicle membrane;Growth cone;Cell membrane NA 1 PE1 NX_Q8N357 40214 371 6.44 2 Endosome;Lysosome membrane;Cytosol;Cytoplasmic vesicle;Nucleoplasm;Mitochondrion NA 9 PE1 NX_Q8N365 41443 385 9.49 1 Nucleoplasm;PML body;Nucleus NA 0 PE1 NX_Q8N370 62747 569 8.25 17 Golgi apparatus;Cell membrane;Membrane NA 12 PE1 NX_Q8N371 47270 416 5.51 16 Nucleoplasm;Cytosol;Nucleus;Chromosome NA 0 PE1 NX_Q8N377 15598 158 7.64 10 NA NA 0 PE5 NX_Q8N386 33179 305 4.88 19 Cytoplasm;Membrane NA 1 PE1 NX_Q8N387 36294 334 4.93 11 Cell membrane;Secreted NA 1 PE1 NX_Q8N392 74977 663 6.1 6 Cytosol;Cytoplasm;Cell membrane;Nucleus speckle NA 0 PE1 NX_Q8N393 89815 782 9.39 7 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_Q8N394 94130 836 8.94 12 Cytoskeleton;Cell membrane;Endoplasmic reticulum;Membrane NA 10 PE1 NX_Q8N398 131668 1242 6.02 3 Nucleus;Golgi apparatus NA 0 PE1 NX_Q8N3A8 95871 854 8.58 5 Cytosol;Cytoplasm;Midbody ring;Nucleoplasm;Nucleus;Cell junction NA 0 PE1 NX_Q8N3C0 251460 2202 6.64 6 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleus speckle NA 0 PE1 NX_Q8N3C7 76317 705 8.93 2 Cytoplasmic vesicle NA 0 PE1 NX_Q8N3D4 161854 1523 4.8 11 Cytosol;Endosome;Nucleolus;Cell membrane NA 0 PE1 NX_Q8N3E9 89258 789 6.52 17 Cytoplasm;Cell membrane;Cleavage furrow;Membrane NA 0 PE1 NX_Q8N3F0 14925 131 4.03 7 Cytosol NA 0 PE1 NX_Q8N3F8 93441 863 6.88 22 Cytosol;Late endosome membrane;Recycling endosome membrane;Cell junction;Microtubule organizing center NA 0 PE1 NX_Q8N3F9 47075 429 7.16 14 Cytoplasmic vesicle;Membrane NA 7 PE2 NX_Q8N3G9 48329 435 6.07 7 Golgi apparatus membrane;Endoplasmic reticulum;Golgi apparatus NA 1 PE1 NX_Q8N3H0 14620 131 9.46 12 Cytoplasm NA 0 PE1 NX_Q8N3I7 38755 341 5.39 2 Cytoplasm;Centriolar satellite;Cilium basal body;Nucleus;Cilium membrane Bardet-Biedl syndrome 5 0 PE1 NX_Q8N3J2 54041 472 6.39 18 Mitochondrion NA 0 PE1 NX_Q8N3J3 69771 647 5.85 17 Cytosol;Nucleoplasm NA 0 PE1 NX_Q8N3J5 40997 372 6.27 4 Mitochondrion;Mitochondrion matrix Maple syrup urine disease, mild variant 0 PE1 NX_Q8N3J6 47554 435 5.17 3 Axon;Synapse;Cell membrane NA 1 PE1 NX_Q8N3J9 30284 261 9.03 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8N3K9 449211 4069 4.73 5 Cytoplasm;Perinuclear region;Sarcoplasmic reticulum;Nucleus;M line NA 0 PE1 NX_Q8N3L3 76519 684 4.9 6 NA NA 0 PE1 NX_Q8N3P4 161754 1428 5.41 3 Cytosol;Cell membrane;Early endosome NA 0 PE1 NX_Q8N3R3 57925 496 8.9 3 Mitochondrion NA 0 PE1 NX_Q8N3R9 77294 675 5.77 14 Nucleoplasm;Cytoplasm;Cell membrane;Endomembrane system;Cytosol;Tight junction NA 0 PE1 NX_Q8N3S3 88757 785 9.09 7 Nucleoplasm;Cytosol;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q8N3T1 73063 639 6.44 3 Cytosol;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q8N3T6 121787 1108 5.95 12 Cytosol;Centrosome;Membrane NA 1 PE1 NX_Q8N3U1 12695 123 5.54 19 NA NA 0 PE2 NX_Q8N3U4 141326 1231 5.27 X Centromere;Nucleus;Chromosome NA 0 PE1 NX_Q8N3V7 99463 929 8.92 5 Synapse;Perikaryon;Nucleoplasm;Cytosol;Dendritic spine;Postsynaptic density;Cytoskeleton;Tight junction NA 0 PE1 NX_Q8N3X1 110266 1017 4.68 11 Nucleus speckle NA 0 PE1 NX_Q8N3X6 66964 602 8.2 4 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_Q8N3Y1 67394 598 5.42 12 Cytosol;Perinuclear region;Golgi apparatus NA 0 PE1 NX_Q8N3Y3 81787 721 7.69 11 Golgi apparatus membrane NA 1 PE1 NX_Q8N3Y7 34095 309 8.72 8 Endoplasmic reticulum membrane NA 2 PE1 NX_Q8N3Z0 47098 413 9.72 6 Secreted NA 0 PE1 NX_Q8N3Z3 32147 284 9.47 3 Mitochondrion NA 0 PE1 NX_Q8N3Z6 63052 543 7.03 9 Cytosol;Nucleolus NA 0 PE1 NX_Q8N402 26933 240 4.58 22 NA NA 0 PE2 NX_Q8N412 50660 459 9.6 4 NA NA 0 PE2 NX_Q8N413 31906 288 9.32 11 Cytosol;Nucleoplasm;Mitochondrion inner membrane NA 6 PE1 NX_Q8N414 58464 524 9.03 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8N423 65039 598 6.79 19 Cell membrane NA 1 PE1 NX_Q8N427 67270 588 4.9 7 Cytoplasm Ciliary dyskinesia, primary, 6 0 PE1 NX_Q8N428 63074 558 9.28 14 Golgi apparatus membrane;Nucleus NA 1 PE1 NX_Q8N431 52870 466 7.58 5 Mitochondrion NA 0 PE2 NX_Q8N434 53991 492 9.07 7 Membrane NA 10 PE2 NX_Q8N436 85870 756 6.4 10 Secreted NA 0 PE1 NX_Q8N441 54537 504 9.79 4 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q8N442 74328 669 8.75 4 Mitochondrion;Nucleus;Mitochondrion inner membrane Epileptic encephalopathy, early infantile, 40 0 PE1 NX_Q8N443 44015 379 8.92 X Nucleus NA 0 PE1 NX_Q8N446 37065 348 9.85 16 NA NA 0 PE1 NX_Q8N448 76004 690 6.17 13 Cytosol;Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_Q8N456 29737 261 9.83 10 Cytoplasm NA 0 PE1 NX_Q8N461 51658 479 6.09 16 NA NA 0 PE1 NX_Q8N465 56416 521 8.21 2 Mitochondrion D-2-hydroxyglutaric aciduria 1 0 PE1 NX_Q8N468 56265 514 8.67 1 Endosome;Membrane NA 12 PE1 NX_Q8N474 35386 314 9.1 8 Cytosol;Nucleolus;Secreted NA 0 PE1 NX_Q8N475 95751 847 5.61 4 Secreted NA 0 PE1 NX_Q8N485 31891 282 5.37 5 Cytosol;Cytoplasmic vesicle;Cytoskeleton NA 0 PE2 NX_Q8N488 24822 228 9.66 3 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q8N490 42876 385 9.22 2 Mitochondrion;Cytoplasm;Nucleus;Membrane Dystonia 8 0 PE1 NX_Q8N4A0 66666 578 7.55 12 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q8N4B1 27215 249 9.18 12 Recycling endosome;Clathrin-coated vesicle;trans-Golgi network;Early endosome NA 0 PE1 NX_Q8N4B4 52646 442 9.1 17 NA NA 0 PE2 NX_Q8N4B5 30926 295 11.09 6 NA NA 0 PE1 NX_Q8N4C0 16682 152 10.45 9 NA NA 0 PE2 NX_Q8N4C6 243249 2090 4.99 14 Centriole;Cytoplasm;Nucleolus;Nucleus;Centrosome Seckel syndrome 7 0 PE1 NX_Q8N4C7 34324 294 7.05 3 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q8N4C8 149822 1332 7.85 17 Axon;Dendrite;Cytoplasm;Golgi apparatus;Postsynaptic density NA 0 PE1 NX_Q8N4C9 30555 275 9.62 17 Membrane NA 1 PE2 NX_Q8N4E4 28071 241 4.79 4 NA NA 0 PE1 NX_Q8N4E7 27538 242 6.79 5 Mitochondrion NA 0 PE1 NX_Q8N4F0 49172 458 8.82 20 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q8N4F4 35933 322 5.39 11 Membrane NA 6 PE2 NX_Q8N4F7 38266 328 9.07 4 Membrane NA 5 PE1 NX_Q8N4G2 21588 192 8.93 3 Cytoplasmic vesicle NA 0 PE1 NX_Q8N4H0 45058 392 9.22 9 NA NA 0 PE1 NX_Q8N4H5 6035 51 9.69 9 Mitochondrion;Mitochondrion outer membrane NA 1 PE1 NX_Q8N4J0 47186 409 5.93 9 Cytosol;Nucleus NA 0 PE1 NX_Q8N4K4 12312 120 5.51 17 Membrane NA 1 PE2 NX_Q8N4L1 51278 468 8.31 11 Cytosol;Nucleolus;Membrane NA 2 PE1 NX_Q8N4L2 28081 257 9.07 8 Late endosome membrane;Lysosome membrane NA 2 PE1 NX_Q8N4L4 34773 309 8.07 17 Cytoplasm;Membrane NA 1 PE1 NX_Q8N4L8 34322 307 6.57 1 Cytosol;Cell membrane NA 0 PE1 NX_Q8N4M1 73783 653 7.92 1 Membrane NA 8 PE1 NX_Q8N4M7 19474 172 5.3 10 NA NA 0 PE2 NX_Q8N4N3 69896 616 5.85 16 Cytosol NA 0 PE1 NX_Q8N4N8 76254 673 8.89 17 Kinetochore;Cytoskeleton;Nucleolus;Spindle;Centrosome NA 0 PE1 NX_Q8N4P2 76099 665 5.12 2 Cilium NA 0 PE1 NX_Q8N4P3 20329 179 6.25 15 Cytosol;Nucleoplasm NA 0 PE1 NX_Q8N4P6 61825 559 9.3 1 NA NA 0 PE1 NX_Q8N4Q0 40140 377 8.38 18 Cytoplasmic vesicle;Nucleus;Golgi apparatus;Peroxisome NA 0 PE1 NX_Q8N4Q1 15996 142 4.23 3 Mitochondrion;Mitochondrion intermembrane space NA 0 PE1 NX_Q8N4S0 64002 544 4.91 11 Cytosol;Nucleus NA 0 PE1 NX_Q8N4S7 29126 273 9.26 16 Cytoplasmic vesicle;Membrane NA 6 PE1 NX_Q8N4S9 64168 558 7.21 5 Cell membrane;Cell junction;Tight junction Deafness, autosomal recessive, 49 6 PE1 NX_Q8N4T0 51008 437 9.58 8 Extracellular matrix Epilepsy, familial temporal lobe, 5;Febrile seizures, familial, 11 0 PE1 NX_Q8N4T4 38295 335 9.71 9 Cell membrane NA 0 PE1 NX_Q8N4T8 25301 237 9.4 4 Mitochondrion matrix NA 0 PE1 NX_Q8N4U5 58091 519 4.89 12 Nucleus speckle NA 0 PE1 NX_Q8N4V1 14686 131 9.2 X Endoplasmic reticulum membrane;Early endosome membrane;Golgi apparatus membrane NA 2 PE1 NX_Q8N4V2 60769 548 5.6 12 Synaptic vesicle membrane NA 12 PE1 NX_Q8N4W6 38086 341 9.39 12 Cytoplasmic vesicle;Membrane NA 7 PE1 NX_Q8N4W9 104825 903 9.59 19 Nucleus NA 0 PE1 NX_Q8N4X5 91300 818 5.22 10 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q8N4Y2 44956 399 5.28 11 Nucleus NA 0 PE1 NX_Q8N4Z0 24133 218 6.59 1 Endoplasmic reticulum;Membrane NA 0 PE1 NX_Q8N511 23130 208 9.09 17 COPI-coated vesicle membrane;Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane Congenital disorder of glycosylation 2P 2 PE1 NX_Q8N531 58588 539 9.51 8 Nucleus NA 0 PE1 NX_Q8N535 12106 108 5.44 2 NA NA 0 PE5 NX_Q8N539 50744 461 6.02 9 Cell junction;Membrane NA 1 PE1 NX_Q8N543 63246 542 5.03 16 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q8N554 67219 614 8.87 16 Kinetochore;Cytosol;Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_Q8N556 80725 730 8.87 4 Cytosol;Focal adhesion;Cytoskeleton;Stress fiber NA 0 PE1 NX_Q8N565 24927 214 5.53 2 Cytoplasmic vesicle;Apical cell membrane NA 0 PE1 NX_Q8N567 30477 271 9.33 5 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_Q8N568 83606 766 8.63 4 Cytoskeleton NA 0 PE1 NX_Q8N573 97970 874 5.32 8 Cytoplasmic vesicle;Mitochondrion NA 0 PE1 NX_Q8N584 65870 583 6.59 18 Nucleoplasm NA 0 PE1 NX_Q8N587 55197 486 9.09 19 Nucleus NA 0 PE1 NX_Q8N594 50662 471 5.49 19 Nucleolus;Nucleus NA 0 PE1 NX_Q8N5A5 57359 531 5.3 20 Nucleus;Cell membrane NA 0 PE1 NX_Q8N5B7 45752 392 8.21 12 Endoplasmic reticulum membrane;Nucleolus;Nucleus;Nucleus membrane NA 6 PE1 NX_Q8N5C1 35170 309 8.49 6 Golgi apparatus;Membrane NA 4 PE1 NX_Q8N5C6 111776 995 8.94 2 Mitochondrion;Cytosol NA 0 PE1 NX_Q8N5C7 35248 304 8.65 15 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 NX_Q8N5C8 78653 712 8.81 X Cytosol;Nucleus speckle NA 0 PE1 NX_Q8N5D0 75920 677 6.85 1 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_Q8N5D6 40127 347 8.68 9 Golgi apparatus membrane NA 1 PE1 NX_Q8N5F7 47138 415 10.12 X Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q8N5G0 7702 67 9.86 4 Cytosol;Nucleus;Nucleolus;Mitochondrion inner membrane NA 1 PE1 NX_Q8N5G2 76178 664 9.17 1 Cytosol;Axon;Rough endoplasmic reticulum membrane;Nucleus membrane NA 4 PE1 NX_Q8N5H3 20147 189 5.1 11 Cytoplasm;Lamellipodium NA 0 PE1 NX_Q8N5H7 94411 860 8.2 9 Cytoplasm;Membrane NA 0 PE1 NX_Q8N5I2 45981 433 6.53 9 Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_Q8N5I3 31048 272 6.91 13 Cytoplasmic vesicle;Endoplasmic reticulum NA 0 PE1 NX_Q8N5I4 36443 330 9.1 X Cytosol;Cytoskeleton;Secreted NA 0 PE1 NX_Q8N5I9 20123 185 5.1 12 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_Q8N5J2 51778 469 4.75 1 Nucleoplasm NA 0 PE1 NX_Q8N5J4 29180 248 9.02 12 Nucleus NA 0 PE2 NX_Q8N5K1 15278 135 9.66 4 Endoplasmic reticulum membrane;Endoplasmic reticulum;Mitochondrion outer membrane Wolfram syndrome 2 1 PE1 NX_Q8N5L8 17631 163 10.32 9 Nucleus NA 0 PE1 NX_Q8N5M1 32772 289 6.62 17 Cytosol;Mitochondrion Mitochondrial complex V deficiency, nuclear type 1 0 PE1 NX_Q8N5M4 20013 171 9.02 11 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q8N5M9 21125 183 9.72 3 Endoplasmic reticulum membrane;Cytoplasm;Cytoplasmic vesicle;Nucleus;Endoplasmic reticulum Neutropenia, severe congenital 6, autosomal recessive 4 PE1 NX_Q8N5N4 15686 141 9.89 3 NA NA 0 PE2 NX_Q8N5N7 18325 158 7.73 9 Cytosol;Cytoplasmic vesicle;Mitochondrion NA 0 PE1 NX_Q8N5P1 33576 291 8.55 2 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8N5Q1 99915 922 9.45 19 NA NA 0 PE1 NX_Q8N5R6 107216 958 6.32 15 NA NA 0 PE1 NX_Q8N5S1 40795 370 9.35 19 Mitochondrion inner membrane NA 6 PE1 NX_Q8N5S3 32142 287 9.07 2 NA NA 0 PE1 NX_Q8N5S9 55735 505 5.55 17 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q8N5T2 60208 526 5.67 4 Nucleoplasm;Nucleus membrane NA 0 PE1 NX_Q8N5U0 36368 333 8.57 11 NA NA 0 PE1 NX_Q8N5U1 25050 240 5.63 11 Membrane NA 4 PE2 NX_Q8N5U6 89927 811 6.48 12 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q8N5V2 82496 710 5.42 2 Cytosol;Cytoplasm;Growth cone;Cell membrane;Membrane NA 0 PE1 NX_Q8N5W8 10147 94 6.68 10 Secreted NA 0 PE1 NX_Q8N5W9 22882 214 5.27 17 Cytosol;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q8N5X7 24441 224 5.98 3 Nucleolus NA 0 PE1 NX_Q8N5Y2 59824 521 8.4 X Nucleus NA 0 PE1 NX_Q8N5Y8 36383 322 9.17 15 Endoplasmic reticulum membrane NA 1 PE1 NX_Q8N5Z0 47352 425 6.47 4 Mitochondrion;Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_Q8N5Z5 35670 321 4.82 22 Cytoplasm Dystonia 26, myoclonic 0 PE1 NX_Q8N608 90888 796 6.11 2 Cytosol;Cytoplasmic vesicle;Nucleus;Cell membrane Asthma 1 PE1 NX_Q8N609 42162 369 9.38 4 Mitochondrion;Endoplasmic reticulum membrane;Endoplasmic reticulum NA 8 PE1 NX_Q8N612 105568 972 6.33 11 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 NX_Q8N614 34323 296 7.98 4 Membrane NA 2 PE2 NX_Q8N616 12924 119 6.53 16 NA NA 0 PE5 NX_Q8N628 35376 320 7.13 1 Cell membrane NA 7 PE2 NX_Q8N635 49313 442 5.98 16 Cytoplasm;Nucleolus;Nucleus;Chromosome Spermatogenic failure 22 0 PE1 NX_Q8N653 94719 840 6.12 22 NA Schwannomatosis 2;Noonan syndrome 10 0 PE1 NX_Q8N660 77563 670 4.63 1 Cytoplasm NA 0 PE2 NX_Q8N661 24352 226 6.15 19 Cytoplasm;Midbody;Centrosome;Membrane NA 7 PE1 NX_Q8N668 21178 190 5.85 2 Endosome membrane;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Cytosol;Nucleus;Early endosome;Recycling endosome NA 0 PE1 NX_Q8N680 57337 514 5.71 6 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q8N682 26253 238 6.39 12 Lysosome membrane NA 6 PE1 NX_Q8N684 52050 471 7.82 11 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 NX_Q8N687 17537 156 5.31 20 Secreted NA 0 PE2 NX_Q8N688 8105 67 9.77 20 Secreted NA 0 PE2 NX_Q8N690 9822 84 8.92 20 Secreted NA 0 PE1 NX_Q8N693 44297 406 5.19 X Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q8N695 66578 610 7.9 12 Apical cell membrane NA 13 PE1 NX_Q8N697 62034 577 9.2 12 Nucleoplasm;Membrane NA 12 PE1 NX_Q8N699 26593 235 9.88 6 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8N6C5 148936 1336 5.63 X Cytosol;Membrane;Secreted Hypothyroidism, central, and testicular enlargement 2 PE1 NX_Q8N6C7 14321 128 10.38 19 NA NA 0 PE5 NX_Q8N6C8 47472 439 8.37 19 Secreted NA 0 PE1 NX_Q8N6D2 27402 247 5.82 6 Cytoplasmic vesicle;Cytoplasm;Nucleus;Golgi apparatus;Membrane NA 2 PE1 NX_Q8N6D5 32442 301 9.46 18 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8N6F1 23229 224 8.49 1 Cell membrane;Tight junction Hypomagnesemia 5, renal, with or without ocular involvement 4 PE1 NX_Q8N6F7 21005 178 6.07 3 Cytoplasm;Cell membrane NA 0 PE1 NX_Q8N6F8 26522 245 5.74 7 Focal adhesion NA 0 PE1 NX_Q8N6G1 10504 96 9.35 1 NA NA 0 PE5 NX_Q8N6G2 33595 289 9.4 13 NA NA 0 PE1 NX_Q8N6G5 62572 542 5.5 10 Golgi stack membrane;Endoplasmic reticulum NA 1 PE1 NX_Q8N6G6 193409 1762 8.18 9 Extracellular matrix NA 0 PE1 NX_Q8N6H7 56720 521 8.08 11 Cytoplasm;Golgi apparatus membrane;Golgi apparatus NA 0 PE1 NX_Q8N6I1 25190 236 6.94 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8N6I4 18747 163 8.38 14 Cell junction;Golgi apparatus;Membrane NA 2 PE1 NX_Q8N6K0 16649 151 4.99 13 Membrane NA 1 PE1 NX_Q8N6K4 17423 173 9.65 16 NA NA 0 PE2 NX_Q8N6K7 61237 520 6.67 6 NA NA 0 PE1 NX_Q8N6L0 62783 562 4.65 19 Telomere;Nucleus;Nucleus outer membrane NA 1 PE1 NX_Q8N6L1 14679 136 9.67 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 3 PE1 NX_Q8N6L7 18703 170 4.88 9 Membrane NA 2 PE2 NX_Q8N6M0 33813 293 5.77 8 Cytosol;Nucleoplasm;Golgi apparatus Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0 PE1 NX_Q8N6M3 29855 262 8.93 20 Endoplasmic reticulum membrane NA 6 PE1 NX_Q8N6M5 43559 391 5.79 2 NA NA 0 PE2 NX_Q8N6M6 93572 819 5.81 9 Cytoplasm;Cell junction NA 0 PE1 NX_Q8N6M8 23699 205 9.68 3 Acrosome NA 0 PE1 NX_Q8N6M9 16477 145 8.7 7 Cytoplasm;Nucleus NA 0 PE2 NX_Q8N6N2 25932 239 9.55 19 NA NA 0 PE1 NX_Q8N6N3 20599 182 5.14 1 Nucleus NA 0 PE1 NX_Q8N6N6 13032 113 8.84 17 NA NA 0 PE1 NX_Q8N6N7 9790 88 6.26 10 Cytoplasmic vesicle;Cytosol NA 0 PE1 NX_Q8N6P7 63077 574 5.81 1 Membrane NA 1 PE1 NX_Q8N6Q1 34174 288 5.83 15 Membrane NA 1 PE1 NX_Q8N6Q3 46363 437 5.87 19 Lamellipodium;Secreted;Membrane raft;Cell membrane;Cytoplasmic granule membrane NA 0 PE1 NX_Q8N6Q8 68213 603 6.69 12 Mitochondrion;Cytosol;Cell membrane NA 0 PE1 NX_Q8N6R0 78768 699 6.29 1 Cytosol NA 0 PE1 NX_Q8N6R1 7431 65 10.61 13 Endoplasmic reticulum membrane;Membrane NA 1 PE1 NX_Q8N6S4 60818 541 6.46 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 0 PE1 NX_Q8N6S5 24676 226 5.94 2 Cytosol;Nucleus membrane;Membrane NA 3 PE1 NX_Q8N6T0 64047 577 6.2 11 Centrosome;Chromosome NA 0 PE2 NX_Q8N6T3 44668 406 5.46 20 Cytoplasmic vesicle;Cytoplasm;Nucleus membrane;Golgi apparatus NA 0 PE1 NX_Q8N6T7 39119 355 9.31 19 Nucleoplasm NA 0 PE1 NX_Q8N6U2 18370 182 11.05 12 NA NA 0 PE5 NX_Q8N6U8 58559 529 8.56 1 Cilium membrane;Nucleolus;Nucleus;Cell membrane NA 7 PE1 NX_Q8N6V4 10399 93 5.02 10 NA NA 0 PE1 NX_Q8N6V9 44826 391 6.21 15 Cytosol;Cell membrane NA 0 PE1 NX_Q8N6W0 52355 485 8.57 19 Cytoplasm;Nucleus NA 0 PE1 NX_Q8N6Y0 76068 703 5.58 19 NA NA 0 PE1 NX_Q8N6Y1 104919 951 4.91 13 Cytoplasmic vesicle;Cytoskeleton;Cell membrane NA 1 PE1 NX_Q8N6Y2 51800 441 8.5 7 Nucleoplasm;Extracellular space;Cell membrane;Nucleus speckle NA 0 PE1 NX_Q8N715 72349 623 10.13 1 NA NA 0 PE1 NX_Q8N720 57407 491 6.7 7 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q8N726 13903 132 12.41 9 Mitochondrion;Nucleoplasm;Nucleolus NA 0 PE1 NX_Q8N729 18048 165 11.62 16 Secreted NA 0 PE1 NX_Q8N743 44928 410 7.27 19 Cell membrane NA 1 PE2 NX_Q8N752 39086 337 9.48 13 Cytoplasm NA 0 PE1 NX_Q8N755 22575 202 9.14 2 Cytosol;Membrane NA 4 PE1 NX_Q8N766 111759 993 7.38 1 Cytoskeleton;Membrane Cerebellar atrophy, visual impairment, and psychomotor retardation 1 PE1 NX_Q8N769 13377 122 5.55 14 NA NA 0 PE2 NX_Q8N782 23070 197 8.98 19 Nucleus NA 0 PE1 NX_Q8N7A1 46720 406 5.67 14 Cytosol;Cytoplasm NA 0 PE2 NX_Q8N7B1 35284 307 6.86 22 Nucleus;Chromosome NA 0 PE1 NX_Q8N7B6 27152 248 9.71 4 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 NX_Q8N7B9 50147 438 9.31 17 NA NA 0 PE1 NX_Q8N7C0 35126 313 5.44 1 Cell membrane NA 1 PE1 NX_Q8N7C3 43983 387 5.52 4 Cytosol;Cell membrane NA 0 PE1 NX_Q8N7C4 26582 229 9.33 6 Nucleolus;Membrane NA 4 PE2 NX_Q8N7C7 34397 305 8.49 7 Membrane NA 1 PE1 NX_Q8N7E2 48785 425 9.57 X Cytoplasm NA 0 PE1 NX_Q8N7F7 19909 174 5.63 1 Mitochondrion;Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q8N7G0 36051 328 10.11 5 Nucleus NA 0 PE1 NX_Q8N7H1 13435 131 11.32 12 NA NA 0 PE2 NX_Q8N7H5 59976 531 4.53 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8N7I0 21479 195 8.73 9 Mitochondrion NA 0 PE2 NX_Q8N7J2 69507 671 6.55 13 Cell membrane NA 0 PE1 NX_Q8N7K0 77243 673 9.38 19 Nucleus NA 0 PE1 NX_Q8N7L0 16362 139 11.54 13 NA NA 0 PE2 NX_Q8N7M0 20730 179 9.04 1 NA NA 0 PE1 NX_Q8N7M2 77942 679 8.62 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8N7N1 32865 296 6 8 NA NA 0 PE2 NX_Q8N7P1 61312 536 8.93 1 Cytosol;Cytoplasmic vesicle;Mitochondrion;Membrane NA 1 PE1 NX_Q8N7P3 24509 220 5.7 4 Tight junction;Cell membrane NA 4 PE2 NX_Q8N7P7 48314 452 10.01 8 NA NA 0 PE2 NX_Q8N7Q2 20470 184 9.22 10 Secreted NA 0 PE5 NX_Q8N7Q3 67624 588 9.1 19 Nucleus NA 0 PE2 NX_Q8N7R0 26880 232 9.08 12 Nucleus NA 0 PE5 NX_Q8N7R1 31848 296 9.32 7 NA NA 0 PE1 NX_Q8N7R7 40705 359 5.7 2 Cell membrane NA 0 PE1 NX_Q8N7S2 21433 189 7.92 2 Membrane NA 0 PE2 NX_Q8N7S6 30424 290 11.74 3 Membrane NA 1 PE2 NX_Q8N7U6 93802 833 7.51 3 Nucleolus NA 0 PE1 NX_Q8N7U7 40603 411 10 19 Nucleus NA 0 PE2 NX_Q8N7U9 15976 141 5.8 17 NA NA 0 PE5 NX_Q8N7W2 57549 519 9.26 10 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 NX_Q8N7X0 189713 1667 8.49 6 Mitochondrion;Nucleoplasm NA 0 PE1 NX_Q8N7X1 114938 1067 9.19 X NA NA 0 PE1 NX_Q8N7X2 42496 386 10.01 9 Cytoplasmic vesicle NA 0 PE1 NX_Q8N7X4 43992 407 5.39 X NA NA 0 PE1 NX_Q8N7X8 21283 197 9.59 19 Membrane NA 1 PE2 NX_Q8N7Y1 25772 241 10.92 11 NA NA 0 PE5 NX_Q8N7Z2 83069 668 5.25 15 NA NA 0 PE2 NX_Q8N7Z5 210816 1873 5.82 5 NA NA 0 PE5 NX_Q8N801 27807 248 9.61 2 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q8N806 47999 425 4.7 14 Nucleus NA 0 PE1 NX_Q8N807 66657 584 6.41 16 Endoplasmic reticulum NA 0 PE1 NX_Q8N808 35381 338 6.63 17 Membrane NA 9 PE2 NX_Q8N812 14959 135 6.63 12 Cytoskeleton;Cell membrane NA 0 PE2 NX_Q8N813 26007 242 8.48 3 NA NA 0 PE2 NX_Q8N814 14437 137 5.26 7 NA NA 0 PE5 NX_Q8N815 36921 330 6.46 17 Nucleoplasm;Focal adhesion;Cell membrane NA 0 PE2 NX_Q8N816 27975 258 6.33 17 Membrane NA 3 PE2 NX_Q8N819 46170 430 6.21 19 Cytoplasmic vesicle NA 0 PE2 NX_Q8N823 81449 705 9.16 19 Nucleus NA 0 PE1 NX_Q8N831 45874 410 5.45 2 Cytosol;Nucleolus;Centrosome NA 0 PE1 NX_Q8N841 96401 843 9.03 17 Cytoplasmic vesicle;Cytoskeleton;Cilium;Cilium basal body NA 0 PE1 NX_Q8N859 50172 430 6.51 7 Nucleolus;Nucleus NA 0 PE1 NX_Q8N865 68464 590 6.9 7 Nucleoplasm;Mitochondrion;Centrosome NA 0 PE1 NX_Q8N878 62523 549 8.52 6 Cytoskeleton NA 0 PE2 NX_Q8N883 67215 585 9.25 19 Cytosol;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA 0 PE1 NX_Q8N884 58814 522 9.54 6 Cytosol;Microtubule organizing center NA 0 PE1 NX_Q8N888 16258 145 9.12 Y NA NA 0 PE5 NX_Q8N895 85107 744 8.88 5 Nucleus NA 0 PE1 NX_Q8N8A2 107603 993 5.85 2 Mitochondrion;Nucleus speckle NA 0 PE1 NX_Q8N8A6 72457 666 8.43 12 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q8N8A8 21411 192 5.58 15 NA NA 0 PE2 NX_Q8N8B7 40245 351 8.86 X NA NA 0 PE1 NX_Q8N8C0 41526 355 10.4 19 Nucleoplasm;Nucleus NA 0 PE2 NX_Q8N8D1 54700 485 9.97 15 Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_Q8N8D7 22620 197 5.41 8 Cell membrane NA 4 PE2 NX_Q8N8D9 14652 126 6.77 5 Mitochondrion NA 0 PE2 NX_Q8N8E1 13175 139 11.41 12 NA NA 0 PE5 NX_Q8N8E2 57882 541 7.49 2 Nucleus Retinitis pigmentosa 58 0 PE1 NX_Q8N8E3 112749 955 6.25 17 Nucleoplasm;Centrosome;Golgi apparatus NA 0 PE1 NX_Q8N8F6 30632 280 4.76 4 Endoplasmic reticulum membrane;cis-Golgi network membrane;trans-Golgi network membrane NA 5 PE1 NX_Q8N8F7 14462 131 5.22 7 Cytosol;Membrane NA 1 PE1 NX_Q8N8G2 33426 317 6.33 6 Nucleus NA 0 PE1 NX_Q8N8G6 21040 183 9.87 15 NA NA 0 PE2 NX_Q8N8H1 18964 164 6.49 19 Nucleoplasm NA 0 PE5 NX_Q8N8I0 22907 201 9.4 8 Cytosol;Golgi apparatus NA 0 PE1 NX_Q8N8I6 28326 264 11.2 17 NA NA 0 PE5 NX_Q8N8J0 29179 262 6.83 22 NA NA 0 PE5 NX_Q8N8J6 83739 731 9.35 19 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 NX_Q8N8J7 14653 132 4.6 4 Golgi apparatus;Membrane NA 1 PE1 NX_Q8N8K9 79212 716 6.38 9 Cytosol;Cell membrane NA 0 PE1 NX_Q8N8L2 50950 437 9.45 19 Nucleus NA 0 PE2 NX_Q8N8L6 27459 244 4.58 5 NA NA 0 PE1 NX_Q8N8M0 40521 369 6.49 7 Nucleus NA 0 PE2 NX_Q8N8N0 22357 203 8.2 18 Lysosome membrane NA 1 PE1 NX_Q8N8N7 38499 351 5.27 14 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q8N8P6 13896 123 9.36 X NA NA 0 PE2 NX_Q8N8P7 13691 122 5.58 11 Secreted NA 0 PE2 NX_Q8N8Q1 25424 229 10.02 1 Membrane NA 6 PE2 NX_Q8N8Q3 30792 282 8.34 17 Cytoplasm;Nucleolus NA 0 PE1 NX_Q8N8Q8 37063 333 9.86 4 Mitochondrion inner membrane NA 3 PE1 NX_Q8N8Q9 39185 360 8.46 15 Golgi apparatus;Cell membrane;Early endosome NA 9 PE1 NX_Q8N8R3 32062 303 9.03 14 Mitochondrion inner membrane NA 6 PE1 NX_Q8N8R5 43448 385 8.31 2 Secreted NA 0 PE1 NX_Q8N8R7 29338 260 8.42 11 Cytosol;Cytoplasm;Focal adhesion;Nucleus;Cytoplasmic vesicle NA 0 PE1 NX_Q8N8S7 66510 591 6.51 1 Synapse;Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Filopodium;Lamellipodium;Cytoskeleton NA 0 PE1 NX_Q8N8U2 56500 506 8.99 16 Nucleus NA 0 PE1 NX_Q8N8U3 52817 475 4.43 X Nucleoplasm;Nucleus;Golgi apparatus;Cell membrane NA 0 PE2 NX_Q8N8U9 75997 685 8.18 7 Secreted Diaphanospondylodysostosis 0 PE1 NX_Q8N8V2 72513 638 5.72 1 Membrane NA 0 PE1 NX_Q8N8V4 46597 417 4.99 16 Microvillus;Nucleoplasm;Cytosol NA 0 PE1 NX_Q8N8V8 13990 129 11.62 17 Membrane NA 2 PE2 NX_Q8N8W4 57875 532 8.35 6 Cytoplasm;Cytoskeleton Ichthyosis, congenital, autosomal recessive 10 0 PE1 NX_Q8N8X9 42357 362 8.84 1 Nucleoplasm NA 0 PE1 NX_Q8N8Y2 40426 350 5.18 8 Cytoplasmic vesicle NA 0 PE1 NX_Q8N8Y5 22806 198 9.46 8 Nucleolus;Nucleus;Cell membrane NA 0 PE2 NX_Q8N8Z3 24207 221 11.22 10 NA NA 0 PE2 NX_Q8N8Z6 77920 715 8.26 6 Membrane NA 1 PE1 NX_Q8N8Z8 80136 693 8.82 19 Nucleus speckle;Nucleus NA 0 PE1 NX_Q8N907 20180 189 9.89 19 Mitochondrion;Secreted NA 0 PE2 NX_Q8N910 17040 161 11.89 15 NA NA 0 PE2 NX_Q8N912 18051 160 11.21 14 Cell membrane NA 1 PE2 NX_Q8N944 90445 861 5.48 2 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q8N945 21905 189 8.98 5 Nucleoplasm NA 0 PE1 NX_Q8N954 33277 285 5.68 2 Kinetochore;Nucleus NA 0 PE1 NX_Q8N957 87604 763 8.69 17 NA NA 0 PE2 NX_Q8N960 112640 986 5.9 5 Cytosol;Cytoskeleton;Centrosome Short-rib thoracic dysplasia 13 with or without polydactyly;Joubert syndrome 31 0 PE1 NX_Q8N961 113656 1025 5.87 11 Nucleus NA 0 PE1 NX_Q8N966 29100 263 9.5 14 Cell membrane;Membrane NA 2 PE1 NX_Q8N967 41158 370 8.17 12 Membrane NA 1 PE1 NX_Q8N972 74652 641 9.22 19 Nucleus NA 0 PE1 NX_Q8N976 14881 141 6.53 7 NA NA 0 PE5 NX_Q8N983 23431 215 8.97 10 Mitochondrion;Nucleoplasm NA 0 PE1 NX_Q8N987 40571 351 4.83 8 Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 NX_Q8N988 48627 423 9.22 19 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 NX_Q8N998 43809 374 5.33 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q8N999 37490 325 6.6 12 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q8N9A8 14267 125 8.71 16 Cytosol;Cytoplasm;Nucleus membrane NA 2 PE1 NX_Q8N9B4 43052 389 6.01 11 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 NX_Q8N9B5 111445 988 5.88 5 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q8N9B8 54556 481 7.6 10 Golgi apparatus NA 0 PE1 NX_Q8N9C0 100400 903 6.7 11 NA NA 0 PE2 NX_Q8N9E0 28941 248 10.1 X NA NA 0 PE1 NX_Q8N9F0 32837 302 9.05 4 Microsome membrane;Cytoplasm;Rough endoplasmic reticulum membrane;Membrane;Mitochondrion;Mitochondrion membrane N-acetylaspartate deficiency 1 PE1 NX_Q8N9F7 36167 314 8.66 17 Cytoplasm;Perinuclear region;Membrane NA 2 PE1 NX_Q8N9F8 60008 522 8.96 5 Nucleus NA 0 PE1 NX_Q8N9G6 37462 341 10.42 10 NA NA 0 PE2 NX_Q8N9H6 14527 132 9.23 8 NA NA 0 PE5 NX_Q8N9H8 96598 876 8.6 9 Cytoskeleton;Focal adhesion NA 0 PE1 NX_Q8N9H9 69787 656 5.32 1 NA NA 0 PE2 NX_Q8N9I0 46872 419 8.18 1 Cytoplasmic vesicle;Synaptic vesicle membrane;Chromaffin granule membrane Myasthenic syndrome, congenital, 7, presynaptic 1 PE1 NX_Q8N9I5 40447 356 8.13 17 Membrane NA 6 PE2 NX_Q8N9I9 37988 347 9.02 12 Cytoplasm;Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 NX_Q8N9K5 62445 539 8.58 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8N9L1 36567 334 9.61 3 Cytosol;Nucleus NA 0 PE1 NX_Q8N9L7 13535 120 9.8 22 NA NA 0 PE5 NX_Q8N9L9 46327 421 8.31 14 Peroxisome NA 0 PE1 NX_Q8N9M1 44746 422 10.12 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8N9M5 54175 508 5.59 17 Cytoplasmic vesicle;Cell membrane NA 1 PE1 NX_Q8N9N2 45509 400 5.36 10 Cytosol;Nucleus speckle;Nucleus;Nucleoplasm Barrett esophagus;Spinal muscular atrophy with congenital bone fractures 2 0 PE1 NX_Q8N9N5 56494 519 5.27 16 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8N9N7 26754 239 8.7 15 Mitochondrion;Cytosol;Membrane NA 0 PE1 NX_Q8N9N8 19053 165 5.14 11 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q8N9P0 25159 234 11.75 6 NA NA 0 PE5 NX_Q8N9P6 22154 203 11.66 9 NA NA 0 PE2 NX_Q8N9Q2 18177 155 9.86 5 Nucleolus;Nucleus NA 0 PE1 NX_Q8N9R0 15610 145 11.42 16 NA NA 0 PE5 NX_Q8N9R6 17514 151 10.05 17 Mitochondrion NA 0 PE2 NX_Q8N9R8 70399 606 8.78 9 Cytoplasm;Nucleus;Nucleus membrane;Membrane NA 1 PE1 NX_Q8N9S9 50802 440 6.62 8 Nucleoplasm;Cytosol;Golgi apparatus NA 0 PE1 NX_Q8N9T2 14163 125 9.29 X NA NA 0 PE5 NX_Q8N9T8 82598 703 5.06 19 Nucleolus NA 0 PE1 NX_Q8N9U0 55284 490 9.29 14 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8N9U9 13254 137 12.18 X NA NA 0 PE5 NX_Q8N9V2 53002 468 5.36 4 NA NA 0 PE1 NX_Q8N9V3 52817 476 5.93 2 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q8N9V6 59571 530 9.58 2 Spindle;Spindle pole NA 0 PE1 NX_Q8N9V7 190927 1692 8.16 3 Cytosol NA 0 PE1 NX_Q8N9W4 100610 909 4.63 15 NA NA 0 PE1 NX_Q8N9W5 59410 541 5.66 19 Mitochondrion;Cytoplasm;Nucleus Ciliary dyskinesia, primary, 2 0 PE1 NX_Q8N9W6 31301 283 6.59 2 Cytoplasm NA 0 PE1 NX_Q8N9W7 13731 124 8.96 15 Membrane NA 1 PE5 NX_Q8N9W8 47076 422 5.6 14 NA NA 0 PE1 NX_Q8N9X3 18887 169 11.31 1 NA NA 0 PE5 NX_Q8N9X5 15361 138 8.88 8 Cytoplasm;Cell membrane;Membrane NA 2 PE5 NX_Q8N9Y4 38724 354 9.75 14 NA NA 0 PE1 NX_Q8N9Z0 53489 462 9.36 19 Nucleus NA 0 PE1 NX_Q8N9Z2 26261 235 11.71 7 Cytosol;Cytoskeleton;Golgi apparatus NA 0 PE1 NX_Q8N9Z9 43408 388 9.18 12 Nucleoplasm;Centrosome NA 0 PE1 NX_Q8NA03 66121 581 5.08 15 Nucleoplasm NA 0 PE1 NX_Q8NA19 71122 623 7.11 18 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_Q8NA23 40840 367 8.65 9 Cytosol;Nucleus NA 0 PE1 NX_Q8NA29 60170 543 6.51 1 Endoplasmic reticulum membrane;Cytosol;Cell membrane Microcephaly 15, primary, autosomal recessive 11 PE1 NX_Q8NA31 83064 727 7.29 16 Nucleus inner membrane;Telomere NA 0 PE1 NX_Q8NA42 54613 475 8.21 19 Cytoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_Q8NA47 66250 563 9.08 12 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q8NA54 92581 791 6.21 7 Cytosol;Nucleus speckle;Cytoskeleton NA 0 PE1 NX_Q8NA56 55082 475 5.5 4 NA NA 0 PE1 NX_Q8NA57 47326 414 8.79 12 NA NA 0 PE1 NX_Q8NA58 60124 520 8.82 6 Endoplasmic reticulum membrane NA 1 PE1 NX_Q8NA61 51570 448 6.7 13 Cell junction;Cell membrane NA 0 PE1 NX_Q8NA66 50224 436 9.15 8 NA NA 0 PE1 NX_Q8NA69 57331 505 9.04 19 NA NA 0 PE1 NX_Q8NA70 73945 645 8.96 X NA NA 0 PE1 NX_Q8NA72 63351 575 6.97 5 Centriole;Nucleus;Centrosome NA 0 PE1 NX_Q8NA75 43747 395 8.85 8 NA NA 0 PE1 NX_Q8NA77 18469 164 3.85 17 Cytoplasm NA 0 PE1 NX_Q8NA82 90511 808 6.26 17 Cytosol;Cell membrane NA 0 PE1 NX_Q8NA92 30082 274 10.24 19 Nucleoplasm NA 0 PE1 NX_Q8NA96 19635 180 8.97 5 NA NA 0 PE5 NX_Q8NA97 15156 138 8.17 8 NA NA 0 PE2 NX_Q8NAA4 68998 619 9.2 11 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q8NAA5 37780 344 8.66 17 NA NA 0 PE1 NX_Q8NAA6 19737 179 9.93 15 NA NA 0 PE2 NX_Q8NAB2 69395 608 5.22 11 NA NA 0 PE1 NX_Q8NAC3 86240 791 5.73 3 Cell membrane Candidiasis, familial, 9 1 PE1 NX_Q8NAE3 13125 123 6.11 1 NA NA 0 PE2 NX_Q8NAF0 60509 562 9.07 19 Nucleus NA 0 PE1 NX_Q8NAG6 66890 615 5.98 19 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q8NAJ2 25113 232 8.89 9 NA NA 0 PE2 NX_Q8NAM6 48957 433 6.47 19 Nucleus;Telomere NA 0 PE1 NX_Q8NAN2 71006 632 5.42 1 Mitochondrion;Mitochondrion outer membrane NA 1 PE1 NX_Q8NAP1 17846 163 8.78 7 NA NA 0 PE5 NX_Q8NAP3 134257 1195 8.34 3 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q8NAP8 54175 495 4.98 1 Nucleus NA 0 PE1 NX_Q8NAQ8 14168 132 11.48 16 NA NA 0 PE2 NX_Q8NAS9 17397 161 4.87 5 NA NA 0 PE5 NX_Q8NAT1 66615 580 8.81 3 Endoplasmic reticulum membrane Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8 1 PE1 NX_Q8NAT2 109737 981 8.31 1 Cytoplasm NA 0 PE1 NX_Q8NAU1 23659 212 6.91 1 Peroxisome membrane;Cell membrane;Secreted NA 1 PE1 NX_Q8NAV1 37477 312 9.97 1 Nucleus NA 0 PE1 NX_Q8NAV2 39661 365 8.52 8 Nucleus NA 0 PE2 NX_Q8NAX2 43642 398 6.1 1 Nucleoplasm;Cytoplasm;Spindle;Cell junction Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 0 PE1 NX_Q8NB12 56617 490 6.66 2 Cytoplasm;Nucleus NA 0 PE1 NX_Q8NB14 116546 1042 5.82 4 Cytosol;Nucleoplasm NA 0 PE1 NX_Q8NB15 29428 262 6.31 10 Nucleus NA 0 PE1 NX_Q8NB16 54479 471 9 16 Cytoplasm;Cell membrane NA 0 PE1 NX_Q8NB25 132965 1140 5.59 6 Nucleoplasm;Cytosol;Golgi apparatus NA 0 PE1 NX_Q8NB37 23298 220 6.14 11 Nucleoplasm;Secreted NA 0 PE1 NX_Q8NB42 70902 609 8.35 19 Nucleus speckle;Nucleus;Golgi apparatus NA 0 PE1 NX_Q8NB46 115077 1076 6.01 12 Mitochondrion;Nucleoplasm NA 0 PE1 NX_Q8NB49 129477 1132 6.25 X Endoplasmic reticulum membrane;Cell membrane Hemolytic anemia, congenital, X-linked 10 PE1 NX_Q8NB50 102511 900 9.24 5 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q8NB59 62287 555 6.02 1 Cytoplasmic vesicle;Membrane Spinocerebellar ataxia, autosomal recessive, 11 1 PE1 NX_Q8NB66 250911 2214 5.64 15 Cytoplasm;Presynaptic cell membrane;Membrane NA 0 PE1 NX_Q8NB78 92098 822 8.13 6 Nucleus NA 0 PE1 NX_Q8NB90 97904 893 5.5 4 Mitochondrion;Cytoplasm;Cytosol Epilepsy, hearing loss, and mental retardation syndrome 0 PE1 NX_Q8NB91 97726 859 7.79 X Nucleus Fanconi anemia complementation group B 0 PE1 NX_Q8NBA8 33416 298 8.95 5 Nucleus NA 0 PE1 NX_Q8NBB2 13907 130 11.83 15 NA NA 0 PE5 NX_Q8NBB4 45286 408 8.85 19 Nucleolus;Nucleus NA 0 PE1 NX_Q8NBC4 21159 194 11.74 20 Cytoplasm NA 0 PE2 NX_Q8NBD8 19531 167 5.68 14 Membrane NA 4 PE2 NX_Q8NBE8 63923 558 5.4 2 Nucleoplasm;Cytoskeleton NA 0 PE1 NX_Q8NBF1 65976 620 7.56 1 Nucleus NA 0 PE1 NX_Q8NBF2 79444 726 5.33 10 Nucleoplasm NA 0 PE1 NX_Q8NBF4 16182 154 11.26 7 NA NA 0 PE5 NX_Q8NBF6 71947 648 5.79 7 Recycling endosome;Endoplasmic reticulum;Membrane NA 1 PE1 NX_Q8NBH2 63855 561 7.1 3 Nucleoplasm;Cytoskeleton;Z line Myopathy, myofibrillar, 7 0 PE1 NX_Q8NBI2 27214 242 9.64 11 Lysosome membrane;Late endosome membrane NA 6 PE1 NX_Q8NBI3 38650 349 7.62 1 Secreted NA 0 PE1 NX_Q8NBI5 54529 491 8.81 11 Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Membrane NA 12 PE1 NX_Q8NBI6 43807 393 8.35 3 Endoplasmic reticulum membrane NA 1 PE1 NX_Q8NBJ4 45333 401 4.91 9 cis-Golgi network membrane;Golgi apparatus NA 1 PE1 NX_Q8NBJ5 71636 622 6.85 19 Cytoplasmic vesicle;Endoplasmic reticulum lumen NA 0 PE1 NX_Q8NBJ7 33843 301 7.78 7 Cytoplasmic vesicle;Endoplasmic reticulum lumen;Cell membrane NA 0 PE1 NX_Q8NBJ9 94454 832 6.55 11 Lysosome membrane;Cell membrane NA 10 PE1 NX_Q8NBK3 40556 374 6.18 3 Endoplasmic reticulum lumen Multiple sulfatase deficiency 0 PE1 NX_Q8NBL1 46189 392 8.91 3 Endoplasmic reticulum lumen Dowling-Degos disease 4;Limb-girdle muscular dystrophy 2Z 0 PE1 NX_Q8NBL3 33019 297 8.83 2 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nucleus NA 3 PE1 NX_Q8NBM4 38964 344 9.21 13 Endoplasmic reticulum membrane;Cytosol NA 3 PE1 NX_Q8NBM8 54646 494 6.81 5 Nucleoplasm;Mitochondrion;Secreted NA 0 PE1 NX_Q8NBN3 63430 555 6.32 15 Golgi apparatus membrane;Golgi apparatus NA 7 PE1 NX_Q8NBN7 35932 331 8.23 19 Mitochondrion;Cytosol NA 0 PE1 NX_Q8NBP0 96813 860 6.56 1 Nucleoplasm NA 0 PE1 NX_Q8NBP5 50619 474 9.28 2 Nucleolus;Membrane NA 9 PE1 NX_Q8NBP7 74286 692 6.14 1 Endosome;Golgi apparatus;Secreted;Cytoplasm;Lysosome;Endoplasmic reticulum;Cell surface Hypercholesterolemia, autosomal dominant, 3 0 PE1 NX_Q8NBQ5 32936 300 9.2 4 Lipid droplet;Secreted NA 0 PE1 NX_Q8NBQ7 30203 271 8.08 11 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 6 PE1 NX_Q8NBR0 42238 393 10.97 17 Cytoplasm;Cell membrane NA 1 PE1 NX_Q8NBR6 67106 621 4.44 15 Nucleoplasm NA 0 PE1 NX_Q8NBR9 27887 251 9.56 11 NA NA 0 PE2 NX_Q8NBS3 99581 891 7.59 20 Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Membrane Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy;Corneal dystrophy and perceptive deafness 11 PE1 NX_Q8NBS9 47629 432 5.63 6 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 NX_Q8NBT0 45009 407 7.31 3 Centriole;Cilium basal body;Centrosome;Spindle pole Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 0 PE1 NX_Q8NBT2 22478 197 4.65 19 Kinetochore;Nucleolus;Nucleus NA 0 PE1 NX_Q8NBT3 55534 493 8.88 19 Cytoplasmic vesicle;Membrane NA 8 PE2 NX_Q8NBU5 40744 361 6.43 10 Nucleolus;Cytoplasm;Nucleus;Peroxisome;Mitochondrion;Postsynaptic cell membrane Hyperekplexia 4 0 PE1 NX_Q8NBV4 29448 271 9.98 9 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nucleus;Nucleus envelope;Membrane NA 4 PE1 NX_Q8NBV8 44138 401 9.65 11 Nucleoplasm;Acrosome;Cell membrane;Cell junction NA 1 PE1 NX_Q8NBW4 63776 561 7.59 5 Cytoplasmic vesicle;Nucleoplasm;Lysosome membrane;Late endosome membrane NA 11 PE1 NX_Q8NBX0 47151 429 9.24 1 Cytoplasmic vesicle NA 0 PE1 NX_Q8NBZ0 26478 244 8.41 16 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q8NBZ7 47577 420 8.99 2 Golgi stack membrane NA 1 PE1 NX_Q8NBZ9 25156 246 10.69 1 NA NA 0 PE5 NX_Q8NC01 31952 280 5.93 12 Membrane NA 1 PE1 NX_Q8NC06 30308 268 6.83 17 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q8NC24 32405 303 6.42 5 Cytoplasmic vesicle;Cell membrane NA 1 PE1 NX_Q8NC26 47747 417 8.9 19 Cytosol;Nucleus NA 0 PE1 NX_Q8NC38 14381 126 9.35 1 NA NA 0 PE2 NX_Q8NC42 43165 400 6.08 2 Cytoplasmic vesicle;Cell membrane;Membrane NA 1 PE1 NX_Q8NC44 57830 543 4.39 2 Cytosol;Membrane NA 3 PE1 NX_Q8NC51 44965 408 8.66 1 Cytosol;Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 NX_Q8NC54 29235 265 4.93 5 Golgi apparatus;Membrane NA 1 PE1 NX_Q8NC56 56975 503 9.16 6 Nucleus inner membrane;Nucleus membrane Cataract 46, juvenile-onset 2 PE1 NX_Q8NC60 78458 698 8.87 4 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_Q8NC67 59393 525 6.38 16 Golgi apparatus;Membrane NA 1 PE1 NX_Q8NC69 27610 237 5.61 3 Mitochondrion;M line;Nucleolus NA 0 PE1 NX_Q8NC74 71432 664 6.08 20 NA NA 0 PE1 NX_Q8NC96 29737 275 6.33 12 Cytoplasmic vesicle;Cytosol;Clathrin-coated vesicle membrane;Cell membrane Epileptic encephalopathy, early infantile, 21 0 PE1 NX_Q8NCA5 55401 519 9.15 2 Cytoplasmic vesicle NA 0 PE1 NX_Q8NCA9 34237 323 7.95 19 Nucleus NA 0 PE1 NX_Q8NCB2 54354 501 5.38 3 Nucleoplasm;Cytoplasm;Cell membrane;Nucleus;Cytoplasmic vesicle membrane;Cytoskeleton NA 0 PE1 NX_Q8NCC3 46658 412 6.26 16 Secreted;Nucleoplasm;Lysosome;Cytoplasmic vesicle;Membrane;Mitochondrion NA 0 PE1 NX_Q8NCC5 54486 494 5.46 7 Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum NA 12 PE1 NX_Q8NCD3 83539 748 9.4 2 Cytosol;Centromere;Nucleolus;Nucleus NA 0 PE1 NX_Q8NCE0 53247 465 7.95 3 Nucleoplasm;Cytosol;Nucleolus;Nucleus Pontocerebellar hypoplasia 2B 0 PE1 NX_Q8NCE2 72203 650 5.85 3 Cytoplasm Myopathy, centronuclear, 1 0 PE1 NX_Q8NCF0 49585 446 8.54 16 Endosome;Golgi apparatus;Endoplasmic reticulum;Secreted NA 0 PE2 NX_Q8NCF5 45817 419 6.19 16 Cytoplasm;Nucleus NA 0 PE1 NX_Q8NCG5 45134 386 9.11 16 Golgi apparatus membrane NA 1 PE1 NX_Q8NCG7 73732 672 6.09 7 Cell membrane NA 4 PE1 NX_Q8NCH0 42997 376 9.55 15 Cytoplasmic vesicle;Golgi apparatus membrane Ehlers-Danlos syndrome, musculocontractural type 1 1 PE1 NX_Q8NCI6 74823 653 9.05 11 NA NA 0 PE1 NX_Q8NCJ5 49694 442 5.78 12 Cytosol;Nucleoplasm;Cytoskeleton NA 0 PE1 NX_Q8NCK3 50280 441 9.68 10 Nucleus NA 0 PE1 NX_Q8NCK7 47791 471 8.67 17 Endoplasmic reticulum membrane;Cell membrane Diabetes mellitus, non-insulin-dependent 12 PE1 NX_Q8NCL4 71159 622 8.47 12 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q8NCL8 27464 245 9.13 12 Nucleoplasm;Cytoskeleton;Membrane NA 4 PE2 NX_Q8NCL9 55635 501 9.15 20 Mitochondrion;Membrane NA 1 PE1 NX_Q8NCM2 111877 988 7.51 14 Cytoskeleton;Spindle;Membrane NA 6 PE1 NX_Q8NCM8 492622 4307 6.13 11 Mitochondrion;Cytoplasm;Cell membrane;Cilium axoneme Short-rib thoracic dysplasia 3 with or without polydactyly 0 PE1 NX_Q8NCN2 55534 500 6 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8NCN4 77194 708 9.28 11 Nucleoplasm;Nucleus speckle NA 0 PE1 NX_Q8NCN5 99364 879 5.93 16 Mitochondrion matrix;Mitochondrion NA 0 PE1 NX_Q8NCP5 63848 570 6.16 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8NCQ2 16070 148 11.82 19 NA NA 0 PE2 NX_Q8NCQ3 11012 95 8.74 11 Membrane NA 1 PE5 NX_Q8NCQ5 57258 510 8.88 18 NA NA 0 PE1 NX_Q8NCQ7 40506 364 7.94 17 NA NA 0 PE1 NX_Q8NCR0 56704 500 5.46 1 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus;Endoplasmic reticulum Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 1 PE1 NX_Q8NCR3 36720 313 7.22 11 NA NA 0 PE1 NX_Q8NCR6 30167 262 8.76 9 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q8NCR9 25321 226 9.3 10 Membrane NA 4 PE1 NX_Q8NCS4 16885 154 9.26 1 Nucleolus;Nucleus;Membrane NA 3 PE1 NX_Q8NCS7 81694 719 8.47 1 Cytosol;Membrane NA 10 PE1 NX_Q8NCT1 45479 418 5.84 15 Cytoplasmic vesicle;Cell membrane;Early endosome NA 0 PE1 NX_Q8NCT3 60525 520 10.03 7 Cytosol;Nucleus;Cell junction;Cell membrane NA 0 PE1 NX_Q8NCU1 16081 143 6.11 14 NA NA 0 PE1 NX_Q8NCU4 110568 936 9.61 3 Mitochondrion NA 0 PE1 NX_Q8NCU7 39744 369 11.28 15 Nucleus NA 0 PE1 NX_Q8NCU8 6527 56 11.27 2 Mitochondrion inner membrane NA 1 PE1 NX_Q8NCV1 61755 583 9.11 16 NA NA 0 PE1 NX_Q8NCW0 48849 462 7.44 16 Nucleolus;Membrane NA 1 PE1 NX_Q8NCW5 31675 288 7.56 1 Cytosol;Nucleoplasm;Mitochondrion;Secreted Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 0 PE1 NX_Q8NCW6 68919 608 8.47 7 Golgi apparatus membrane NA 1 PE1 NX_Q8NCX0 128761 1101 6.58 2 Nucleoplasm NA 0 PE1 NX_Q8NCY6 41150 345 5.37 11 Nucleus NA 0 PE1 NX_Q8ND04 109684 991 7.74 17 Nucleoplasm NA 0 PE1 NX_Q8ND07 61987 529 9.07 14 Microtubule organizing center;Nucleus;Cell membrane;Cilium basal body NA 0 PE1 NX_Q8ND23 150230 1372 7.2 14 Cytoplasm;Cell membrane NA 0 PE1 NX_Q8ND24 77667 703 6.51 11 Cytosol;Golgi apparatus NA 0 PE1 NX_Q8ND25 23783 227 6.18 16 Synaptic vesicle membrane;Golgi apparatus;Lysosome;Endosome;Cell membrane;Membrane NA 0 PE1 NX_Q8ND30 98544 876 5.88 11 Mitochondrion NA 0 PE1 NX_Q8ND56 50530 463 9.55 19 Cytosol;Stress granule;P-body NA 0 PE1 NX_Q8ND61 101266 904 9.24 3 Cytoplasm;Membrane NA 1 PE1 NX_Q8ND71 74890 665 8.62 7 Cytosol;Mitochondrion;Endoplasmic reticulum;Golgi apparatus NA 0 PE1 NX_Q8ND76 39337 341 6.76 10 Nucleus;Cell membrane NA 0 PE1 NX_Q8ND82 83096 737 9.29 X Nucleolus;Nucleus NA 0 PE1 NX_Q8ND83 60595 568 7.57 13 Nucleoplasm;Cytosol;Cytoskeleton NA 0 PE1 NX_Q8ND90 39761 353 4.78 14 Cytosol;Focal adhesion;Nucleolus NA 0 PE1 NX_Q8ND94 25262 238 6.07 11 Nucleoplasm;Nucleus;Membrane NA 1 PE1 NX_Q8NDA2 541978 5059 5.57 9 Cytoplasmic vesicle;Cleavage furrow;Extracellular matrix NA 0 PE1 NX_Q8NDA8 181249 1641 6.44 8 NA NA 0 PE1 NX_Q8NDB2 89282 785 5.28 4 Nucleoplasm;Cytosol;Cell membrane Systemic lupus erythematosus 0 PE1 NX_Q8NDB6 24412 213 9.75 X Nucleus envelope;Membrane NA 1 PE1 NX_Q8NDC0 24269 245 5.3 14 Cytosol;Nucleoplasm NA 0 PE1 NX_Q8NDC4 16236 146 7.88 10 Cytoplasm;Stereocilium;Nucleus;Filopodium tip NA 0 PE1 NX_Q8NDD1 32610 293 9.88 1 Cytosol;Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_Q8NDF8 63267 572 9.07 16 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q8NDG6 155683 1382 6.62 14 Cytoplasm;Nucleus NA 0 PE1 NX_Q8NDH2 277951 2452 9.35 13 NA NA 0 PE1 NX_Q8NDH3 55861 523 6.41 20 Nucleoplasm NA 0 PE1 NX_Q8NDH6 54407 482 5.18 2 Mitochondrion NA 0 PE1 NX_Q8NDI1 140017 1231 5.24 2 Cytosol;Cytoplasm;Endosome;Cell membrane;Membrane Prostate cancer, hereditary, 12 0 PE1 NX_Q8NDL9 97534 886 9.34 2 Cytosol;Cytoplasm;Spindle;Nucleus;Cytoskeleton;Midbody Retinitis pigmentosa 75 0 PE1 NX_Q8NDM7 191984 1665 5.71 10 Cytoplasm;Flagellum axoneme;Flagellum Spermatogenic failure 19 0 PE1 NX_Q8NDN9 58252 531 6.02 13 Nucleoplasm;Cytoplasm;Nucleus Retinal dystrophy with or without extraocular anomalies 0 PE1 NX_Q8NDP4 58395 499 9.4 19 Nucleus NA 0 PE1 NX_Q8NDQ6 77094 660 9.58 19 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA 0 PE1 NX_Q8NDT2 97205 890 9.86 3 Nucleoplasm;Nucleus speckle;Nucleus envelope NA 0 PE1 NX_Q8NDV1 35395 305 9.23 1 Nucleoplasm;Golgi apparatus membrane NA 1 PE1 NX_Q8NDV2 37604 337 9.82 10 Cell membrane NA 7 PE1 NX_Q8NDV3 143908 1235 7.69 22 Cytosol;Centromere;Nucleus;Chromosome;Nucleoplasm NA 0 PE1 NX_Q8NDV7 210297 1962 6.55 16 Nucleoplasm;Cytoplasmic vesicle;P-body;Golgi apparatus NA 0 PE1 NX_Q8NDW4 67087 579 8.59 10 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8NDW8 150944 1320 6.85 3 Nucleoplasm NA 0 PE1 NX_Q8NDX1 116249 1056 5.31 2 Cell membrane;Ruffle membrane NA 0 PE1 NX_Q8NDX2 64991 589 5.95 12 Synaptosome;Synaptic vesicle membrane;Membrane Deafness, autosomal dominant, 25 12 PE1 NX_Q8NDX5 106162 983 6.15 3 Nucleus NA 0 PE1 NX_Q8NDX6 21857 193 9.38 12 Nucleus NA 0 PE1 NX_Q8NDX9 22572 201 6.17 6 Secreted NA 0 PE1 NX_Q8NDY3 40105 354 5.58 13 Nucleoplasm NA 0 PE1 NX_Q8NDY4 15384 140 8.83 1 NA NA 0 PE2 NX_Q8NDY6 23665 225 9.37 20 Nucleus NA 0 PE1 NX_Q8NDY8 22122 209 5.53 1 Membrane NA 1 PE2 NX_Q8NDZ0 87919 799 5.23 X NA NA 0 PE1 NX_Q8NDZ2 96838 872 6.1 5 Nucleolus;Nucleus NA 0 PE1 NX_Q8NDZ4 49482 430 8.84 3 COPI-coated vesicle;Golgi apparatus;Secreted NA 0 PE1 NX_Q8NDZ6 55482 487 8.59 5 Membrane NA 8 PE1 NX_Q8NDZ9 22305 215 12.41 10 NA NA 0 PE5 NX_Q8NE00 55679 496 6.79 17 Nucleoplasm;Golgi apparatus;Membrane NA 11 PE1 NX_Q8NE01 76119 707 5.76 2 Cytosol;Cell membrane NA 4 PE1 NX_Q8NE09 147163 1264 8.08 8 Cytoplasm;Nucleus NA 0 PE1 NX_Q8NE18 81039 718 8.95 4 Cytoplasmic vesicle NA 0 PE1 NX_Q8NE22 34095 299 8.93 5 Nucleoplasm NA 0 PE1 NX_Q8NE28 75677 680 5.17 9 NA NA 0 PE1 NX_Q8NE31 65727 585 5.5 10 Cytosol;Nucleoplasm NA 0 PE1 NX_Q8NE35 76014 698 6.56 10 Postsynaptic density;Cytoplasm;Synapse;Nucleus;Dendrite NA 0 PE1 NX_Q8NE62 65358 594 8.57 3 Mitochondrion inner membrane NA 0 PE1 NX_Q8NE63 69425 616 6.18 19 Cytoplasm NA 0 PE1 NX_Q8NE65 15884 137 4.99 19 Nucleus NA 0 PE1 NX_Q8NE71 95926 845 6.4 6 Nucleoplasm;Cytoplasm;Cytosol;Nucleus envelope NA 0 PE1 NX_Q8NE79 41451 360 8.02 6 Cell membrane;Sarcolemma;Membrane;Caveola;Cell junction;Tight junction;Lateral cell membrane Limb-girdle muscular dystrophy 2X 3 PE1 NX_Q8NE86 39867 351 8.83 10 Mitochondrion;Mitochondrion inner membrane NA 2 PE1 NX_Q8NEA4 22105 188 8.64 2 Nucleolus;Nucleus NA 0 PE1 NX_Q8NEA5 24151 215 9.06 19 Golgi apparatus;Membrane NA 1 PE1 NX_Q8NEA6 83636 775 8.34 9 Nucleoplasm;Nucleus Diabetes mellitus, neonatal, with congenital hypothyroidism 0 PE1 NX_Q8NEA9 60299 526 8.48 5 Nucleus matrix NA 0 PE1 NX_Q8NEB5 29484 264 8.81 8 Cytoplasmic vesicle;Membrane NA 5 PE1 NX_Q8NEB7 61359 543 5.09 12 Cytoplasmic vesicle;Nucleoplasm;Acrosome;Secreted NA 0 PE1 NX_Q8NEB9 101549 887 6.37 18 Late endosome;Midbody;Autophagosome NA 0 PE1 NX_Q8NEC5 90091 780 7.22 11 Flagellum membrane Spermatogenic failure 7 6 PE1 NX_Q8NEC7 71079 633 8.04 4 Cytoplasm;Nucleus NA 0 PE1 NX_Q8NEE0 9662 82 10.17 2 NA NA 0 PE5 NX_Q8NEE6 83924 735 9.03 7 Flagellum axoneme NA 0 PE2 NX_Q8NEE8 98309 873 9.15 9 NA NA 0 PE1 NX_Q8NEF3 53565 446 9.48 5 Nucleoplasm;Cytosol;Cell membrane NA 0 PE1 NX_Q8NEF9 48634 429 9.59 5 Cytoplasmic vesicle;Perinuclear region;Nucleolus;Nucleus NA 0 PE1 NX_Q8NEG0 27472 241 6.53 12 NA NA 0 PE1 NX_Q8NEG2 32846 295 7.78 7 NA NA 0 PE1 NX_Q8NEG4 55486 500 8.38 22 Mitochondrion;Nucleus NA 0 PE1 NX_Q8NEG5 72732 633 8.95 2 NA NA 0 PE1 NX_Q8NEG7 66464 585 9.11 22 Cytoplasm;Recycling endosome;Cell membrane NA 0 PE1 NX_Q8NEH6 60571 495 6.73 15 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_Q8NEJ0 21066 188 7.04 22 Nucleoplasm;Cytoplasm;Nucleus;Mitochondrion inner membrane NA 0 PE1 NX_Q8NEJ9 35894 315 9.57 14 Nucleolus;Cytoplasm;Axon;Dendrite;Nucleus;Filopodium;Mitochondrion;Centromere NA 0 PE1 NX_Q8NEK5 62728 533 8.37 19 Nucleus NA 0 PE1 NX_Q8NEK8 44500 389 6.17 X NA NA 0 PE1 NX_Q8NEL0 37886 328 8.61 3 NA NA 0 PE1 NX_Q8NEL9 100435 900 5.42 14 Cytoplasm Spastic paraplegia 28, autosomal recessive 0 PE1 NX_Q8NEM0 92849 835 8.56 8 Nucleoplasm;Nucleus;Centrosome Microcephaly 1, primary, autosomal recessive 0 PE1 NX_Q8NEM1 61798 530 9.19 7 Nucleus NA 0 PE1 NX_Q8NEM2 75690 672 4.66 16 Spindle;Cytoskeleton;Nucleus;Midbody NA 0 PE1 NX_Q8NEM7 85789 779 8.77 13 Nucleolus;Nucleus NA 0 PE1 NX_Q8NEM8 116011 1001 8.98 7 Cytosol;Mitochondrion;Nucleus speckle NA 0 PE2 NX_Q8NEN0 96867 867 8.53 6 Cytoplasm;Nucleus NA 0 PE1 NX_Q8NEN9 128563 1154 5.78 10 Endoplasmic reticulum membrane;Nucleolus;Cell membrane NA 1 PE1 NX_Q8NEP3 80026 725 4.57 16 Nucleus speckle;Cytosol;Cytoplasm;Cell membrane;Spindle pole;Cilium Ciliary dyskinesia, primary, 13 0 PE1 NX_Q8NEP4 63111 570 9.29 17 NA NA 0 PE1 NX_Q8NEP7 37754 349 8.71 1 Nucleoplasm NA 0 PE1 NX_Q8NEP9 73084 628 9.26 19 Nucleus NA 0 PE1 NX_Q8NEQ5 16886 155 9.05 1 Membrane NA 1 PE1 NX_Q8NEQ6 17657 169 9.23 1 Nucleoplasm NA 0 PE1 NX_Q8NER1 94956 839 6.9 17 Postsynaptic cell membrane;Dendritic spine membrane;Cell membrane;Endoplasmic reticulum NA 6 PE1 NX_Q8NER5 54871 493 8.22 2 Membrane NA 1 PE1 NX_Q8NES3 41773 379 9.35 7 Golgi apparatus membrane Spondylocostal dysostosis 3, autosomal recessive 1 PE1 NX_Q8NES8 8058 71 8.26 20 Secreted NA 0 PE3 NX_Q8NET1 8326 73 8.65 11 Secreted NA 0 PE2 NX_Q8NET4 144280 1388 5.81 X NA NA 0 PE1 NX_Q8NET5 29686 270 9.04 22 Cell membrane NA 1 PE1 NX_Q8NET6 38920 341 10.56 3 Golgi apparatus membrane NA 1 PE1 NX_Q8NET8 90636 790 6.17 17 Cytosol;Centrosome;Cell membrane;Membrane Olmsted syndrome;Palmoplantar keratoderma, non-epidermolytic, focal 2 6 PE1 NX_Q8NEU8 74493 664 4.87 12 Early endosome membrane;Nucleus NA 0 PE1 NX_Q8NEV1 45220 391 8.54 11 NA NA 0 PE1 NX_Q8NEV4 186208 1616 9.04 10 Cytosol;Cytoplasm;Stereocilium;Filopodium tip;Cell membrane;Cytoskeleton Deafness, autosomal recessive, 30 0 PE1 NX_Q8NEV8 222519 1989 7.98 11 NA Epidermolysis bullosa, non-specific, autosomal recessive 0 PE1 NX_Q8NEV9 27493 243 6.18 16 Secreted NA 0 PE1 NX_Q8NEW0 41626 376 6.43 1 trans-Golgi network membrane;Golgi apparatus NA 6 PE1 NX_Q8NEW7 17241 156 9.43 3 Cytoplasmic vesicle;Cytosol;Membrane Deafness, autosomal recessive, 6 1 PE1 NX_Q8NEX5 10506 89 7.5 20 Secreted NA 0 PE1 NX_Q8NEX6 10340 87 8.75 20 Secreted NA 0 PE2 NX_Q8NEX9 35263 313 9.26 12 Cytosol;Cytoplasm;Nucleolus Ichthyosis, congenital, autosomal recessive 13 0 PE1 NX_Q8NEY1 202472 1877 8.2 1 Cytoskeleton NA 0 PE1 NX_Q8NEY3 34751 305 9.86 4 Nucleus NA 0 PE1 NX_Q8NEY4 48759 427 5.82 2 Mitochondrion NA 0 PE1 NX_Q8NEY8 52737 458 9.15 12 Nucleoplasm;Cytoplasm;Nucleus;Chromosome;Golgi apparatus NA 0 PE1 NX_Q8NEZ2 44314 397 5.37 8 Cytoplasmic vesicle;Cytosol;Late endosome membrane;Nucleus;Centrosome Spastic paraplegia 53, autosomal recessive 0 PE1 NX_Q8NEZ3 151581 1342 5.94 4 Nucleoplasm;Photoreceptor outer segment;Nucleus;Cilium;Cilium basal body Short-rib thoracic dysplasia 5 with or without polydactyly;Cranioectodermal dysplasia 4;Senior-Loken syndrome 8;Nephronophthisis 13 0 PE1 NX_Q8NEZ4 541370 4911 6.07 7 Nucleoplasm;Nucleus Kleefstra syndrome 2 0 PE1 NX_Q8NEZ5 44508 403 6.61 15 Z line NA 0 PE1 NX_Q8NF37 59151 534 5.77 5 Endoplasmic reticulum membrane;Lipid droplet;Golgi apparatus membrane;Endoplasmic reticulum NA 1 PE1 NX_Q8NF50 238529 2099 6.43 9 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Lamellipodium membrane;Mitochondrion;Centrosome Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;Mental retardation, autosomal dominant 2 0 PE1 NX_Q8NF64 96537 920 6.68 7 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8NF67 31171 263 5.19 1 NA NA 0 PE5 NX_Q8NF86 29787 280 10.03 16 Secreted NA 0 PE1 NX_Q8NF91 1011086 8797 5.37 6 Nucleus membrane;Golgi apparatus;Nucleus outer membrane;Nucleoplasm;Nucleus envelope;Nucleus;Sarcomere;Cytoskeleton Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive, 8 1 PE1 NX_Q8NF99 61139 534 6.93 18 Nucleolus;Cytosol;Cytoplasm;Cell membrane;Nucleus;Cytoskeleton NA 0 PE1 NX_Q8NFA0 181656 1604 6.01 17 Cytosol;Golgi apparatus;Membrane NA 0 PE1 NX_Q8NFA2 41253 376 9.9 16 Cell membrane NA 0 PE1 NX_Q8NFB2 40631 350 6.79 X Dendrite;Membrane NA 7 PE1 NX_Q8NFC6 330466 3051 5 4 Nucleoplasm;Cytoplasm;Chromosome NA 0 PE1 NX_Q8NFD2 84632 765 6.6 11 NA NA 0 PE2 NX_Q8NFD4 16997 153 11.11 9 NA NA 0 PE2 NX_Q8NFD5 236123 2236 6.26 6 Nucleoplasm;Nucleolus;Nucleus Coffin-Siris syndrome 1 0 PE1 NX_Q8NFF2 69042 622 7.48 14 Cytoplasm;Cell membrane Amelogenesis imperfecta, hypomaturation type, 2A5 10 PE1 NX_Q8NFF5 65266 587 6.49 1 Cytosol;Mitochondrion matrix;Cell membrane;Cytoplasm Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 0 PE1 NX_Q8NFG4 64473 579 5.83 17 Cytosol;Cytoplasm;Nucleus;Cell membrane Birt-Hogg-Dube syndrome;Renal cell carcinoma;Primary spontaneous pneumothorax 0 PE1 NX_Q8NFH3 42151 380 5.31 6 Kinetochore;Nuclear pore complex NA 0 PE1 NX_Q8NFH4 36708 326 5.55 12 Kinetochore;Nucleoplasm;Nuclear pore complex NA 0 PE1 NX_Q8NFH5 34774 326 9.15 2 Nucleoplasm;Nuclear pore complex;Nucleus membrane;Cell membrane NA 0 PE1 NX_Q8NFH8 71534 660 7.56 X Cytoplasm NA 0 PE1 NX_Q8NFI3 83987 743 6.34 17 Cytosol;Centrosome NA 0 PE1 NX_Q8NFI4 41378 369 4.96 11 Cytoplasm NA 0 PE5 NX_Q8NFJ5 40251 357 8.39 12 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Cell membrane NA 7 PE1 NX_Q8NFJ6 43996 384 9.04 20 Cell membrane Hypogonadotropic hypogonadism 3 with or without anosmia 7 PE1 NX_Q8NFJ8 36997 381 7.04 8 Nucleus NA 0 PE1 NX_Q8NFJ9 65083 593 8.02 11 Cytoplasm;Centriolar satellite;Midbody;Cilium membrane Bardet-Biedl syndrome 1 0 PE1 NX_Q8NFK1 31299 279 9.35 7 Gap junction;Cell membrane NA 4 PE1 NX_Q8NFL0 45987 401 9.2 2 Golgi apparatus membrane NA 1 PE1 NX_Q8NFM4 119794 1077 7.31 14 Cytoplasm;Cell membrane NA 12 PE1 NX_Q8NFM7 82411 739 6.78 3 Nucleoplasm;Cytoplasm;Golgi apparatus membrane;Cell membrane;Golgi apparatus Hypogonadotropic hypogonadism 18 with or without anosmia 1 PE1 NX_Q8NFN8 89097 814 7.74 3 Cell membrane NA 7 PE2 NX_Q8NFP0 16023 134 9.17 6 Peroxisome NA 0 PE2 NX_Q8NFP4 105790 955 8.65 6 Golgi apparatus;Cell membrane NA 0 PE1 NX_Q8NFP7 18500 164 5.52 X Cytoplasm NA 0 PE1 NX_Q8NFP9 327822 2946 5.78 13 Nucleolus;Golgi apparatus;Cytosol;Cytoplasm;Nucleus;Membrane NA 0 PE1 NX_Q8NFQ5 49717 453 8.97 20 Secreted NA 0 PE1 NX_Q8NFQ6 56469 507 5.56 22 Secreted NA 0 PE2 NX_Q8NFQ8 51263 470 4.84 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus membrane NA 1 PE1 NX_Q8NFR3 9198 76 7.72 3 Endoplasmic reticulum membrane NA 2 PE1 NX_Q8NFR7 71076 591 9 2 Nucleolus;Nucleus NA 0 PE1 NX_Q8NFR9 74810 667 9.43 3 Cytoplasm;Cell membrane;Secreted NA 1 PE1 NX_Q8NFT2 56056 490 9.28 7 Endosome membrane;Cytoplasmic vesicle;Cell membrane NA 6 PE1 NX_Q8NFT6 67243 615 8.72 17 Nucleus NA 0 PE1 NX_Q8NFT8 78475 737 5.03 2 Cell membrane NA 1 PE1 NX_Q8NFU0 53497 473 5.81 1 Cell membrane NA 4 PE1 NX_Q8NFU1 57139 509 5.11 19 Cell membrane NA 4 PE1 NX_Q8NFU3 12530 115 5.85 1 Cytosol;Perinuclear region NA 0 PE1 NX_Q8NFU4 9700 85 9.3 4 Secreted NA 0 PE1 NX_Q8NFU5 47222 416 7.27 10 Nucleus NA 0 PE1 NX_Q8NFU7 235309 2136 8.53 10 Nucleus;Nucleus membrane NA 0 PE1 NX_Q8NFV4 34690 315 9.5 7 Mitochondrion NA 0 PE1 NX_Q8NFV5 40668 336 9.52 7 NA NA 0 PE2 NX_Q8NFW1 161145 1626 6.88 8 Cytoplasmic vesicle;Cytoplasm;Endoplasmic reticulum;Extracellular matrix NA 0 PE1 NX_Q8NFW5 41198 382 8.76 1 Nucleus NA 0 PE1 NX_Q8NFW8 48379 434 8.16 12 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q8NFW9 95706 859 5.44 3 Nucleolus;Golgi apparatus;Cytoplasm;Perinuclear region;Secretory vesicle;Nucleus NA 0 PE1 NX_Q8NFX7 23554 210 9.19 14 Cytoplasm;Membrane NA 0 PE1 NX_Q8NFY4 119872 1073 8.77 15 Cytoplasm;Golgi apparatus;Cell membrane NA 1 PE1 NX_Q8NFY9 68823 601 5.88 3 Spindle;Golgi apparatus NA 0 PE1 NX_Q8NFZ0 117686 1043 8.58 10 Nucleus;Chromosome NA 0 PE1 NX_Q8NFZ3 92021 816 5.77 Y Postsynaptic density;Cell membrane NA 1 PE2 NX_Q8NFZ4 90820 835 5.78 17 Mitochondrion;Postsynaptic cell membrane;Cell membrane;Presynaptic cell membrane NA 1 PE1 NX_Q8NFZ5 48700 429 6.03 4 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 NX_Q8NFZ6 44476 395 9.52 19 Cell membrane NA 8 PE2 NX_Q8NFZ8 42785 388 5.92 19 Nucleus;Nucleus membrane;Membrane NA 1 PE1 NX_Q8NG04 60059 563 8.6 12 Membrane NA 5 PE2 NX_Q8NG06 54766 486 5.87 1 NA NA 0 PE1 NX_Q8NG08 123252 1087 5.59 12 Cytoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q8NG11 30691 270 6.41 10 Cytoplasmic vesicle;Cell membrane NA 4 PE1 NX_Q8NG27 71002 643 5.05 X Nucleolus;Nucleus NA 0 PE1 NX_Q8NG31 265391 2342 5.3 15 Nucleoplasm;Kinetochore;Nucleus Microcephaly 4, primary, autosomal recessive 0 PE1 NX_Q8NG35 8923 78 8.71 8 Secreted NA 0 PE2 NX_Q8NG41 13097 125 9.97 17 Secreted NA 0 PE1 NX_Q8NG48 85857 757 6.07 15 Nucleoplasm Mental retardation, autosomal recessive 27 0 PE1 NX_Q8NG50 31970 284 5.75 17 Cajal body;Nucleolus;PML body;Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q8NG57 59744 546 9.86 18 Nucleus NA 0 PE1 NX_Q8NG66 74192 645 5 3 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q8NG68 43212 377 6.28 2 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 NX_Q8NG75 36885 326 7.57 11 Cell membrane NA 7 PE2 NX_Q8NG76 35876 320 8.91 1 Cell membrane NA 7 PE2 NX_Q8NG77 35946 320 8.96 1 Cell membrane NA 7 PE3 NX_Q8NG78 38798 346 8.65 11 Cell membrane NA 7 PE2 NX_Q8NG80 35648 312 8.87 1 Cell membrane NA 7 PE3 NX_Q8NG81 34902 312 7.52 1 Cell membrane NA 7 PE2 NX_Q8NG83 34827 312 8.45 1 Cell membrane NA 7 PE2 NX_Q8NG84 37763 335 9.23 1 Cell membrane NA 7 PE2 NX_Q8NG85 35282 312 8.96 1 Cell membrane NA 7 PE2 NX_Q8NG92 34570 308 9.25 X Cell membrane NA 7 PE2 NX_Q8NG94 36578 326 8.35 22 Cell membrane NA 7 PE3 NX_Q8NG95 34439 312 8.53 19 Cell membrane NA 7 PE3 NX_Q8NG97 34444 314 7.57 19 Cell membrane NA 7 PE2 NX_Q8NG98 34448 312 7.05 19 Cell membrane NA 7 PE2 NX_Q8NG99 35931 324 8.51 19 Cell membrane NA 7 PE3 NX_Q8NGA0 34803 311 8.77 19 Cell membrane NA 7 PE3 NX_Q8NGA1 34840 313 9.18 19 Cell membrane NA 7 PE2 NX_Q8NGA2 34430 310 6.42 19 Cell membrane NA 7 PE5 NX_Q8NGA4 30291 272 9.49 19 Cell membrane NA 5 PE5 NX_Q8NGA5 35765 316 8.92 19 Cell membrane NA 7 PE3 NX_Q8NGA6 34900 315 8.92 19 Cell membrane NA 7 PE2 NX_Q8NGA8 34212 305 8.69 19 Cell membrane NA 7 PE2 NX_Q8NGB2 36862 326 6.57 11 Cell membrane NA 7 PE3 NX_Q8NGB4 34800 309 9 11 Cell membrane NA 7 PE3 NX_Q8NGB6 35416 313 7.48 15 Cell membrane NA 7 PE2 NX_Q8NGB8 35369 312 8.84 15 Cell membrane NA 7 PE2 NX_Q8NGB9 35355 312 8.88 15 Cell membrane NA 7 PE2 NX_Q8NGC0 40658 362 9.24 14 Cell membrane NA 7 PE2 NX_Q8NGC1 38871 345 9.47 14 Cell membrane NA 7 PE3 NX_Q8NGC2 35466 313 8.26 14 Cell membrane NA 7 PE3 NX_Q8NGC3 34472 310 9.04 14 Cell membrane NA 7 PE2 NX_Q8NGC4 35055 313 9.17 14 Cell membrane NA 7 PE3 NX_Q8NGC5 38693 347 8.84 14 Cell membrane NA 7 PE3 NX_Q8NGC6 35312 315 8.97 14 Cell membrane NA 7 PE3 NX_Q8NGC7 36788 330 8.59 14 Cell membrane NA 7 PE3 NX_Q8NGC8 35499 314 8.71 14 Cell membrane NA 7 PE3 NX_Q8NGC9 36886 324 9.05 14 Cell membrane NA 7 PE2 NX_Q8NGD0 35488 313 8.41 14 Cell membrane NA 7 PE2 NX_Q8NGD1 34721 307 9.06 14 Cell membrane NA 7 PE2 NX_Q8NGD2 35357 314 7.59 14 Cell membrane NA 7 PE2 NX_Q8NGD3 36258 323 8.77 14 Cell membrane NA 7 PE3 NX_Q8NGD4 35201 311 6.43 14 Cell membrane NA 7 PE2 NX_Q8NGD5 35053 310 8.46 14 Cell membrane NA 7 PE3 NX_Q8NGE0 35698 317 8.46 12 Cell membrane NA 7 PE2 NX_Q8NGE1 35010 309 8.91 12 Cell membrane NA 7 PE2 NX_Q8NGE2 34902 309 8.66 12 Cell membrane NA 7 PE3 NX_Q8NGE3 34741 313 9.77 12 Cell membrane NA 7 PE2 NX_Q8NGE5 35695 316 8.78 12 Cell membrane NA 7 PE3 NX_Q8NGE7 37746 335 8.68 12 Cell membrane NA 6 PE2 NX_Q8NGE8 35666 314 9.08 11 Cell membrane NA 7 PE3 NX_Q8NGE9 35363 314 8.83 11 Cell membrane NA 7 PE2 NX_Q8NGF0 36963 335 8.61 11 Cell membrane NA 7 PE3 NX_Q8NGF1 34943 315 8.49 11 Cell membrane NA 7 PE3 NX_Q8NGF3 35839 324 8.99 11 Cell membrane NA 7 PE2 NX_Q8NGF4 35508 316 8.9 11 Cell membrane NA 7 PE2 NX_Q8NGF6 33376 305 6.83 11 Cell membrane NA 7 PE2 NX_Q8NGF7 35091 314 7.56 11 Cell membrane NA 7 PE3 NX_Q8NGF8 34456 309 7.54 11 Cell membrane NA 7 PE3 NX_Q8NGF9 34289 303 8.75 11 Cell membrane NA 7 PE2 NX_Q8NGG0 35481 315 8.62 11 Cell membrane NA 7 PE3 NX_Q8NGG1 35160 315 8.51 11 Membrane NA 7 PE3 NX_Q8NGG2 40696 359 8.91 11 Cell membrane NA 7 PE2 NX_Q8NGG3 38346 340 8.3 11 Cell membrane NA 7 PE3 NX_Q8NGG4 35228 311 9.03 11 Cell membrane NA 7 PE2 NX_Q8NGG5 36581 319 9.18 11 Cell membrane NA 7 PE2 NX_Q8NGG6 34372 310 8.51 11 Cell membrane NA 7 PE2 NX_Q8NGG7 36388 326 8.69 11 Cell membrane NA 7 PE2 NX_Q8NGG8 35305 313 9.07 11 Cell membrane NA 7 PE3 NX_Q8NGH3 37489 330 9.21 11 Cell membrane NA 7 PE2 NX_Q8NGH5 35823 318 9.03 11 Cell membrane NA 7 PE2 NX_Q8NGH6 35227 319 8.98 11 Cell membrane NA 7 PE5 NX_Q8NGH7 36221 329 8.57 11 Cell membrane NA 7 PE2 NX_Q8NGH8 35116 313 9.03 11 Cell membrane NA 7 PE2 NX_Q8NGH9 35480 312 8.84 11 Cell membrane NA 7 PE3 NX_Q8NGI0 35940 321 8.35 11 Cell membrane NA 7 PE2 NX_Q8NGI1 35955 322 8.99 11 Cell membrane NA 7 PE5 NX_Q8NGI2 36080 321 8.48 11 Cell membrane NA 7 PE2 NX_Q8NGI3 36050 324 8.5 11 Cell membrane NA 7 PE2 NX_Q8NGI4 34969 311 9.06 11 Cell membrane NA 7 PE3 NX_Q8NGI6 35300 311 9.07 11 Cell membrane NA 7 PE2 NX_Q8NGI7 34746 309 8.69 11 Cell membrane NA 7 PE3 NX_Q8NGI8 34789 311 8.83 11 Cell membrane NA 7 PE2 NX_Q8NGI9 36016 324 8.46 11 Cell membrane NA 7 PE2 NX_Q8NGJ0 35152 315 8.53 11 Cell membrane NA 7 PE2 NX_Q8NGJ1 35954 314 8.75 11 Cell membrane NA 7 PE2 NX_Q8NGJ2 35592 320 8.18 11 Cell membrane NA 7 PE2 NX_Q8NGJ3 34714 308 8.64 11 Cell membrane NA 7 PE3 NX_Q8NGJ4 36630 325 8.69 11 Cell membrane NA 7 PE3 NX_Q8NGJ5 35369 315 7.65 11 Cell membrane NA 7 PE3 NX_Q8NGJ6 35256 313 9.15 11 Cell membrane NA 7 PE2 NX_Q8NGJ7 35078 313 9.06 11 Cell membrane NA 7 PE3 NX_Q8NGJ8 35313 323 9.13 11 Cell membrane NA 7 PE2 NX_Q8NGJ9 36998 327 9.45 11 Cell membrane NA 7 PE3 NX_Q8NGK0 35012 314 8.93 11 Cell membrane NA 7 PE2 NX_Q8NGK1 36290 321 8.97 11 Cell membrane NA 7 PE2 NX_Q8NGK2 35584 314 8.82 11 Cell membrane NA 7 PE3 NX_Q8NGK3 34926 314 8.8 11 Cell membrane NA 7 PE2 NX_Q8NGK4 35231 314 8.97 11 Cell membrane NA 7 PE2 NX_Q8NGK5 35037 317 8.99 11 Cell membrane NA 7 PE3 NX_Q8NGK6 35386 324 7.16 11 Cell membrane NA 7 PE3 NX_Q8NGK9 37278 328 8.62 11 Cell membrane NA 7 PE3 NX_Q8NGL0 34682 311 8.46 11 Cell membrane NA 7 PE2 NX_Q8NGL1 35348 313 8.68 11 Cell membrane NA 7 PE2 NX_Q8NGL2 34559 311 8.29 11 Cell membrane NA 7 PE2 NX_Q8NGL3 35823 314 9.01 11 Cell membrane NA 7 PE3 NX_Q8NGL4 35447 314 8.19 11 Cell membrane NA 7 PE3 NX_Q8NGL6 38828 344 9.01 11 Cell membrane NA 7 PE3 NX_Q8NGL7 35795 312 8.76 11 Cell membrane NA 7 PE3 NX_Q8NGL9 34991 310 8.8 11 Cell membrane NA 7 PE3 NX_Q8NGM1 35667 316 8.02 11 Cell membrane NA 7 PE3 NX_Q8NGM8 35328 313 8.54 11 Cell membrane NA 7 PE2 NX_Q8NGM9 35019 314 9.04 11 Cell membrane NA 7 PE2 NX_Q8NGN0 35771 318 8.95 11 Cell membrane NA 7 PE2 NX_Q8NGN1 36348 323 9.39 11 Cell membrane NA 7 PE2 NX_Q8NGN2 36501 331 8.47 11 Cell membrane NA 7 PE2 NX_Q8NGN3 34569 311 8.99 11 Cell membrane NA 7 PE3 NX_Q8NGN4 34574 311 8.57 11 Cell membrane NA 7 PE3 NX_Q8NGN5 34519 311 9.14 11 Cell membrane NA 7 PE2 NX_Q8NGN6 34517 311 8.85 11 Cell membrane NA 7 PE3 NX_Q8NGN7 33107 298 8.33 11 Cell membrane NA 7 PE5 NX_Q8NGN8 33593 299 8.83 11 Cell membrane NA 7 PE5 NX_Q8NGP0 34582 309 8.72 11 Cell membrane NA 7 PE2 NX_Q8NGP2 35415 316 8.61 11 Cell membrane NA 7 PE2 NX_Q8NGP3 35093 310 8.7 11 Cell membrane NA 7 PE3 NX_Q8NGP4 35156 307 9.19 11 Cell membrane NA 7 PE2 NX_Q8NGP6 35603 311 8.78 11 Cell membrane NA 7 PE2 NX_Q8NGP8 35608 315 8.41 11 Cell membrane NA 7 PE3 NX_Q8NGP9 34815 310 7.52 11 Cell membrane NA 7 PE3 NX_Q8NGQ1 36344 327 8.25 11 Cell membrane NA 7 PE3 NX_Q8NGQ2 35736 317 8.32 11 Cell membrane NA 7 PE2 NX_Q8NGQ3 36579 325 7.63 11 Cell membrane NA 7 PE3 NX_Q8NGQ4 35602 319 8.16 11 Cell membrane NA 7 PE2 NX_Q8NGQ5 34757 310 5.72 11 Cell membrane NA 7 PE2 NX_Q8NGQ6 34908 314 9 11 Cell membrane NA 7 PE3 NX_Q8NGR1 36494 328 8.7 10 Cell membrane NA 7 PE2 NX_Q8NGR2 39515 347 9.6 9 Cell membrane NA 7 PE3 NX_Q8NGR3 34268 316 8.1 9 Cell membrane NA 7 PE2 NX_Q8NGR4 34991 320 8.88 9 Cell membrane NA 7 PE2 NX_Q8NGR5 35277 311 9.44 9 Cell membrane NA 7 PE3 NX_Q8NGR6 35293 318 8.48 9 Cell membrane NA 7 PE3 NX_Q8NGR8 35083 309 8.96 9 Cell membrane NA 7 PE2 NX_Q8NGR9 36889 330 7.98 9 Cell membrane NA 7 PE2 NX_Q8NGS0 34650 311 7.92 9 Cell membrane NA 7 PE3 NX_Q8NGS1 34959 313 6.42 9 Cell membrane NA 7 PE2 NX_Q8NGS2 35385 313 6.48 9 Cell membrane NA 7 PE2 NX_Q8NGS3 35493 322 7.96 9 Cell membrane NA 7 PE2 NX_Q8NGS4 35646 319 8.94 9 Cell membrane NA 7 PE2 NX_Q8NGS5 35576 318 9.3 9 Cell membrane NA 7 PE3 NX_Q8NGS6 38729 347 8.83 9 Cell membrane NA 7 PE2 NX_Q8NGS7 35294 320 8.47 9 Cell membrane NA 7 PE3 NX_Q8NGS8 35796 318 8.53 9 Cell membrane NA 7 PE2 NX_Q8NGS9 35694 318 7.58 9 Cell membrane NA 7 PE2 NX_Q8NGT0 35854 318 8.56 9 Cell membrane NA 7 PE3 NX_Q8NGT1 38473 345 8.76 9 Cell membrane NA 7 PE2 NX_Q8NGT2 34689 312 8.87 9 Cell membrane NA 7 PE2 NX_Q8NGT5 35330 310 8.84 7 Cell membrane NA 6 PE2 NX_Q8NGT7 35213 310 9.24 7 Cell membrane NA 7 PE2 NX_Q8NGT9 34714 310 8.9 7 Cell membrane NA 7 PE3 NX_Q8NGU1 29546 263 7.46 7 Cell membrane NA 6 PE5 NX_Q8NGU2 35758 314 8.8 7 Cell membrane NA 7 PE2 NX_Q8NGU4 34115 316 9.61 6 Cell membrane NA 7 PE5 NX_Q8NGU9 46353 434 10.17 5 Cell membrane NA 7 PE2 NX_Q8NGV0 34731 311 8.66 5 Cell membrane NA 7 PE2 NX_Q8NGV5 39125 346 7.53 9 Cell membrane NA 7 PE2 NX_Q8NGV6 36713 325 6.64 3 Cell membrane NA 7 PE2 NX_Q8NGV7 35974 314 7.57 3 Cell membrane NA 7 PE3 NX_Q8NGW1 37232 331 8.53 2 Cell membrane NA 7 PE3 NX_Q8NGW6 38362 343 8.39 1 Cell membrane NA 7 PE2 NX_Q8NGX0 36763 322 9.22 1 Cell membrane NA 7 PE2 NX_Q8NGX1 35681 318 8.7 1 Cell membrane NA 7 PE2 NX_Q8NGX2 36101 323 9.03 1 Cell membrane NA 7 PE3 NX_Q8NGX3 35011 314 9.24 1 Cell membrane NA 7 PE3 NX_Q8NGX5 35079 313 9.33 1 Cell membrane NA 7 PE2 NX_Q8NGX6 37486 335 8.88 1 Cell membrane NA 7 PE3 NX_Q8NGX8 36636 325 8.38 1 Cell membrane NA 7 PE3 NX_Q8NGX9 35831 317 8.77 1 Cell membrane NA 7 PE3 NX_Q8NGY0 36446 326 8.51 1 Cell membrane NA 7 PE3 NX_Q8NGY1 34609 313 8.48 1 Cell membrane NA 7 PE3 NX_Q8NGY2 36513 324 8.21 1 Cell membrane NA 7 PE2 NX_Q8NGY3 37352 331 6.97 1 Cell membrane NA 7 PE3 NX_Q8NGY5 34869 312 8.63 1 Cell membrane NA 7 PE2 NX_Q8NGY6 35692 317 9.08 1 Cell membrane NA 7 PE3 NX_Q8NGY7 31021 276 8.87 1 Cell membrane NA 7 PE5 NX_Q8NGY9 35444 312 8.86 1 Cell membrane NA 7 PE2 NX_Q8NGZ0 37063 328 9.12 1 Cell membrane NA 7 PE3 NX_Q8NGZ2 34861 314 8.77 1 Cell membrane NA 7 PE3 NX_Q8NGZ3 34672 307 8.52 1 Cell membrane NA 7 PE2 NX_Q8NGZ4 34506 309 8.04 1 Cell membrane NA 7 PE2 NX_Q8NGZ5 35559 317 9.44 1 Cell membrane NA 7 PE3 NX_Q8NGZ6 33961 308 8.9 1 Cell membrane NA 7 PE2 NX_Q8NGZ9 35403 312 8.81 1 Cell membrane NA 7 PE2 NX_Q8NH00 39414 348 7.2 1 Cell membrane NA 7 PE3 NX_Q8NH01 34797 316 8.18 1 Cell membrane NA 7 PE2 NX_Q8NH02 35595 315 8.59 1 Cell membrane NA 7 PE3 NX_Q8NH03 35598 318 8.42 1 Cell membrane NA 7 PE2 NX_Q8NH04 35514 317 8.47 1 Cell membrane NA 7 PE3 NX_Q8NH05 35491 313 7.83 14 Cell membrane NA 7 PE3 NX_Q8NH06 36638 330 8.32 17 Cell membrane NA 7 PE2 NX_Q8NH07 36531 326 8.35 14 Cell membrane NA 7 PE3 NX_Q8NH08 35157 325 9.34 7 Cell membrane NA 7 PE3 NX_Q8NH09 39645 359 8.84 12 Cell membrane NA 7 PE3 NX_Q8NH10 35088 309 7.97 11 Cell membrane NA 7 PE3 NX_Q8NH16 35495 312 8.94 1 Cell membrane NA 7 PE2 NX_Q8NH18 34808 312 8.3 11 Cell membrane NA 7 PE3 NX_Q8NH19 34105 301 9.07 11 Cell membrane NA 7 PE2 NX_Q8NH21 34330 305 8.53 1 Cell membrane NA 7 PE3 NX_Q8NH37 33726 302 6.68 11 Cell membrane NA 7 PE2 NX_Q8NH40 36127 331 8.66 14 Cell membrane NA 7 PE3 NX_Q8NH41 39088 348 9.1 14 Cell membrane NA 7 PE2 NX_Q8NH42 34261 304 9.04 14 Cell membrane NA 7 PE3 NX_Q8NH43 35264 312 9.03 14 Cell membrane NA 7 PE3 NX_Q8NH48 35258 314 6.48 11 Cell membrane NA 7 PE3 NX_Q8NH49 34222 305 8.74 11 Cell membrane NA 7 PE3 NX_Q8NH50 35190 307 6.48 11 Cell membrane NA 7 PE3 NX_Q8NH51 35463 312 8.02 11 Cell membrane NA 7 PE3 NX_Q8NH53 35785 320 8.57 11 Cell membrane NA 7 PE3 NX_Q8NH54 35611 315 8.82 11 Cell membrane NA 7 PE3 NX_Q8NH55 36851 327 9.12 11 Cell membrane NA 7 PE3 NX_Q8NH56 36212 324 8.88 11 Cell membrane NA 7 PE2 NX_Q8NH57 34890 321 8.69 11 Cell membrane NA 7 PE5 NX_Q8NH59 35747 317 8.69 11 Cell membrane NA 7 PE2 NX_Q8NH60 35091 311 8.82 11 Cell membrane NA 7 PE3 NX_Q8NH61 38518 342 9.06 11 Cell membrane NA 7 PE2 NX_Q8NH63 33766 302 8.97 11 Cell membrane NA 7 PE3 NX_Q8NH64 35132 312 9.12 11 Cell membrane NA 7 PE2 NX_Q8NH67 38353 350 8.42 11 Cell membrane NA 7 PE2 NX_Q8NH69 35167 310 6.57 11 Cell membrane NA 7 PE3 NX_Q8NH70 36922 328 8.58 11 Cell membrane NA 7 PE3 NX_Q8NH72 34558 309 8.45 11 Cell membrane NA 7 PE2 NX_Q8NH73 35172 311 8.53 11 Cell membrane NA 7 PE3 NX_Q8NH74 35318 314 8.37 11 Cell membrane NA 7 PE3 NX_Q8NH76 35454 319 8.01 11 Cell membrane NA 7 PE2 NX_Q8NH79 34727 312 9.1 11 Cell membrane NA 7 PE2 NX_Q8NH80 34812 312 8.31 11 Cell membrane NA 7 PE5 NX_Q8NH81 36823 332 7.53 11 Cell membrane NA 7 PE3 NX_Q8NH83 34915 315 8.41 11 Cell membrane NA 7 PE3 NX_Q8NH85 36708 324 8.61 11 Cell membrane NA 7 PE3 NX_Q8NH87 34071 305 8.14 11 Cell membrane NA 7 PE3 NX_Q8NH89 33542 298 7.55 11 Cell membrane NA 7 PE5 NX_Q8NH90 34627 309 8.42 11 Cell membrane NA 7 PE2 NX_Q8NH92 36707 325 8.79 11 Cell membrane NA 7 PE3 NX_Q8NH93 36633 324 9.36 9 Cell membrane NA 7 PE2 NX_Q8NH94 41046 360 9.01 9 Cell membrane NA 7 PE3 NX_Q8NH95 16702 151 8.4 9 Cell membrane NA 3 PE5 NX_Q8NHA4 36588 323 9.28 7 Cell membrane NA 7 PE2 NX_Q8NHA6 35283 318 8.66 6 Cell membrane NA 7 PE5 NX_Q8NHA8 36933 337 7.95 6 Cell membrane NA 7 PE3 NX_Q8NHB1 34857 315 8.92 5 Cell membrane NA 7 PE3 NX_Q8NHB7 35185 308 8.39 3 Cell membrane NA 7 PE2 NX_Q8NHB8 35763 316 8.37 3 Cell membrane NA 7 PE2 NX_Q8NHC4 34401 309 8.65 1 Cell membrane NA 7 PE2 NX_Q8NHC5 34307 309 8.41 1 Cell membrane NA 7 PE3 NX_Q8NHC6 34709 308 8.72 1 Cell membrane NA 7 PE5 NX_Q8NHC7 34815 312 8.71 1 Cell membrane NA 7 PE3 NX_Q8NHC8 34765 308 8.38 1 Cell membrane NA 7 PE3 NX_Q8NHE4 9184 81 8.8 7 Membrane NA 2 PE2 NX_Q8NHG7 8443 77 9.06 11 Golgi apparatus membrane;Smooth endoplasmic reticulum membrane;Cell membrane;Membrane NA 0 PE1 NX_Q8NHG8 24115 242 6.64 7 Endosome membrane;Lysosome membrane;Presynaptic cell membrane NA 0 PE1 NX_Q8NHH1 87612 800 9.08 9 Cilium basal body NA 0 PE1 NX_Q8NHH9 66229 583 5.3 2 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 2 PE1 NX_Q8NHJ6 49356 448 6.19 19 Cell membrane NA 1 PE1 NX_Q8NHK3 40695 375 8.08 19 Cell membrane NA 1 PE3 NX_Q8NHL6 70819 650 5.69 19 Cell membrane;Secreted NA 1 PE1 NX_Q8NHM4 26537 247 5.64 7 Secreted NA 0 PE5 NX_Q8NHM5 152615 1336 8.85 12 Nucleoplasm;Nucleolus NA 0 PE1 NX_Q8NHP1 36970 331 6.39 1 NA NA 0 PE1 NX_Q8NHP6 59746 518 5.7 X Endoplasmic reticulum;Cell membrane NA 1 PE1 NX_Q8NHP7 58335 514 5.5 15 Cytoplasm NA 0 PE1 NX_Q8NHP8 65472 589 6.34 12 Lysosome lumen NA 0 PE1 NX_Q8NHQ1 69752 597 5.52 3 Cytosol;Nucleoplasm;Centrosome NA 0 PE1 NX_Q8NHQ8 48327 419 6.21 12 Cytosol;Mitochondrion NA 0 PE1 NX_Q8NHQ9 68547 600 9.32 12 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q8NHR7 25316 220 7.12 15 Nucleus;Nucleolus;Nucleus inner membrane;Centrosome;Telomere NA 0 PE1 NX_Q8NHR9 14319 129 8.76 2 Cytoskeleton NA 0 PE1 NX_Q8NHS0 25686 232 6 3 NA NA 0 PE1 NX_Q8NHS1 17984 167 7.56 19 Nucleoplasm;Membrane NA 4 PE2 NX_Q8NHS2 47305 421 6.56 8 Cytoplasm NA 0 PE1 NX_Q8NHS3 57628 518 6.41 4 Nucleoplasm;Cytoplasmic vesicle;Endosome;Lysosome membrane Macular dystrophy with central cone involvement;Ceroid lipofuscinosis, neuronal, 7 12 PE1 NX_Q8NHS4 67250 586 6.09 2 Nucleolus;Centrosome NA 0 PE1 NX_Q8NHS9 41318 363 9.45 17 Chromosome NA 0 PE1 NX_Q8NHU0 21331 189 9.79 X NA NA 0 PE1 NX_Q8NHU2 141349 1237 5.76 20 Cilium axoneme NA 0 PE1 NX_Q8NHU3 42280 365 9.01 4 Golgi apparatus membrane;Cell membrane NA 6 PE1 NX_Q8NHU6 123586 1098 6.84 9 Cytosol;Nucleoplasm;Cytoplasm Cataract 36 0 PE1 NX_Q8NHV1 34509 300 6.1 7 Golgi apparatus;Cytosol;Cytoplasm;Lipid droplet;Endoplasmic reticulum;Cytoplasmic vesicle NA 0 PE1 NX_Q8NHV4 71966 660 8.15 12 Centrosome NA 0 PE1 NX_Q8NHV5 18250 167 8.6 16 Cilium membrane;Cell membrane NA 4 PE2 NX_Q8NHV9 20542 184 5.77 X Nucleus NA 0 PE1 NX_Q8NHW3 36982 353 7.49 8 Nucleus Insulinomatosis and diabetes mellitus 0 PE1 NX_Q8NHW4 10166 92 5.13 17 Secreted NA 0 PE1 NX_Q8NHW5 34364 317 5.41 2 NA NA 0 PE5 NX_Q8NHW6 9939 89 4.47 2 Secreted NA 0 PE2 NX_Q8NHX4 20901 192 10.11 2 NA NA 0 PE1 NX_Q8NHX9 85243 752 6.65 11 Lysosome membrane;Nucleolus NA 12 PE1 NX_Q8NHY0 63258 566 8.79 17 Golgi apparatus membrane NA 1 PE1 NX_Q8NHY2 80474 731 6.41 1 Cytoplasm;Nucleus speckle NA 0 PE1 NX_Q8NHY3 96520 880 9.3 17 Cytoskeleton NA 0 PE1 NX_Q8NHY5 30982 278 9.49 6 Nucleoplasm;Cytosol NA 0 PE1 NX_Q8NHY6 98705 868 9.44 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q8NHZ7 22994 208 11.53 19 NA NA 0 PE2 NX_Q8NHZ8 9777 85 6.32 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8NI08 106162 942 5.43 6 Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q8NI17 82954 732 6.75 5 Nucleoplasm;Cytoplasmic vesicle;Axon;Cell membrane;Presynaptic cell membrane Amyloidosis, primary localized cutaneous, 2 1 PE1 NX_Q8NI22 16390 146 4.51 2 Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus;Endoplasmic reticulum Factor V and factor VIII combined deficiency 2 0 PE1 NX_Q8NI27 182775 1593 8.67 X Nucleoplasm;Nucleus speckle;Nucleus Mental retardation, X-linked 12 0 PE1 NX_Q8NI28 22304 216 11.7 7 Membrane NA 1 PE5 NX_Q8NI29 31623 283 8.92 19 Nucleoplasm NA 0 PE1 NX_Q8NI32 20656 183 7.97 2 Cell membrane NA 0 PE1 NX_Q8NI35 196368 1801 4.84 1 Apical cell membrane;Cytosol;Cell membrane;Microtubule organizing center;Perinuclear region;Cell junction;Tight junction NA 0 PE1 NX_Q8NI36 105322 951 7.33 5 Nucleolus Glaucoma 1, open angle, G 0 PE1 NX_Q8NI37 32646 304 4.99 12 Cytosol;Cell membrane NA 0 PE1 NX_Q8NI38 33481 313 6.9 19 Mitochondrion;Nucleus NA 0 PE1 NX_Q8NI51 75747 663 8.58 20 Cytoplasm;Nucleus NA 0 PE1 NX_Q8NI60 71950 647 6.51 1 Mitochondrion;Membrane Coenzyme Q10 deficiency, primary, 4 1 PE1 NX_Q8NI77 102281 898 9.09 11 Ruffle;Cytoskeleton;Nucleus;Centrosome;Cytoplasm NA 0 PE1 NX_Q8NI99 51694 470 8.78 19 Secreted NA 0 PE1 NX_Q8TA86 26107 221 9.8 7 Cytosol;Nucleus Retinitis pigmentosa 9 0 PE1 NX_Q8TA94 55434 476 9.34 19 Nucleus NA 0 PE1 NX_Q8TAA1 22427 199 6.1 14 Secreted NA 0 PE2 NX_Q8TAA3 28530 256 9.07 18 Cytoplasm;Nucleus NA 0 PE1 NX_Q8TAA5 25431 225 7.63 5 Mitochondrion matrix;Mitochondrion NA 0 PE1 NX_Q8TAA9 59975 524 8.94 1 Cell membrane Neural tube defects;Sacral defect with anterior meningocele 4 PE1 NX_Q8TAB3 126253 1148 5.19 X Cytosol;Cell membrane Epileptic encephalopathy, early infantile, 9 1 PE1 NX_Q8TAB5 24968 229 5.17 1 Nucleoplasm;Cytosol NA 0 PE1 NX_Q8TAB7 13192 109 9.51 8 NA NA 0 PE5 NX_Q8TAC1 17762 157 6.37 5 Nucleoplasm NA 0 PE1 NX_Q8TAC2 20756 188 6.91 19 Cytosol NA 0 PE1 NX_Q8TAC9 26104 235 8.8 15 Synaptic vesicle membrane;trans-Golgi network membrane;Golgi apparatus;Cell membrane;Golgi apparatus membrane;Recycling endosome membrane NA 4 PE1 NX_Q8TAD2 21893 202 9.25 13 Secreted NA 0 PE1 NX_Q8TAD4 84047 765 6.87 5 Nucleus;trans-Golgi network membrane;Golgi apparatus NA 16 PE1 NX_Q8TAD7 6407 63 6.11 12 Cytoplasmic vesicle NA 0 PE1 NX_Q8TAD8 45778 396 10 1 Cytosol;Nucleoplasm;Nucleus Psychomotor retardation, epilepsy, and craniofacial dysmorphism 0 PE1 NX_Q8TAE6 17843 165 5.09 6 Cytoplasm;Membrane NA 0 PE1 NX_Q8TAE7 49593 436 8.6 2 Cytosol;Cytoplasm;Cell membrane NA 6 PE1 NX_Q8TAE8 25384 222 10.03 19 Mitochondrion;Nucleus NA 0 PE1 NX_Q8TAF3 76210 677 6.59 3 Cytoplasmic vesicle;Cytoplasm;Late endosome;Nucleus;Lysosome NA 0 PE1 NX_Q8TAF5 10021 88 11.38 1 NA NA 0 PE5 NX_Q8TAF7 66214 563 8.61 19 Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 NX_Q8TAF8 24201 219 6.69 6 Cell membrane Deafness, autosomal recessive, 67 4 PE1 NX_Q8TAG5 25833 236 8.39 7 Secreted NA 0 PE1 NX_Q8TAG6 22584 207 10.05 8 Nucleus speckle;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 NX_Q8TAG9 93722 804 5.82 10 Nucleoplasm;Cytoplasm;Midbody ring;Cytoplasmic vesicle;Perinuclear region;Growth cone NA 0 PE1 NX_Q8TAI1 13402 123 12.04 18 NA NA 0 PE5 NX_Q8TAI7 20682 183 6.24 12 Cytoplasm;Nucleus;Centrosome;Endomembrane system NA 0 PE1 NX_Q8TAK5 48650 448 5.15 1 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q8TAK6 27905 271 9.71 21 Nucleus NA 0 PE1 NX_Q8TAL5 52222 461 9.01 9 Cytosol NA 0 PE1 NX_Q8TAL6 24273 211 5.3 11 Endoplasmic reticulum;Golgi apparatus;Secreted NA 0 PE1 NX_Q8TAM1 80838 723 7.95 12 Nucleoplasm;Cilium Bardet-Biedl syndrome 10 0 PE1 NX_Q8TAM2 61534 541 6.33 14 Cytoplasm;Centriolar satellite;Centrosome;Cilium;Cilium membrane Bardet-Biedl syndrome 8;Retinitis pigmentosa 51 0 PE1 NX_Q8TAM6 32783 284 4.75 2 Cytoskeleton NA 0 PE1 NX_Q8TAP4 16594 145 8.6 12 NA NA 0 PE1 NX_Q8TAP6 74413 659 6.31 18 Centriole;Centrosome NA 0 PE1 NX_Q8TAP8 27953 253 8.9 7 Nucleoplasm NA 0 PE1 NX_Q8TAP9 19147 179 10.23 7 Golgi apparatus;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;Centrosome Trichothiodystrophy 4, non-photosensitive 0 PE1 NX_Q8TAQ2 132879 1214 5.49 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8TAQ5 80247 688 8.94 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8TAQ9 40503 357 7.68 7 Nucleus inner membrane;Nucleus envelope;Golgi apparatus;Membrane NA 1 PE1 NX_Q8TAS1 46546 419 5.59 1 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q8TAT2 27590 258 9.96 10 Secreted NA 0 PE1 NX_Q8TAT5 67769 605 9.23 4 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8TAT6 68120 608 5.94 17 Cytosol;Nucleoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q8TAT8 10982 98 11.47 11 NA NA 0 PE5 NX_Q8TAU0 38406 364 7.19 10 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q8TAU3 65733 575 9.29 19 Nucleus NA 0 PE1 NX_Q8TAV0 35049 307 9.33 1 NA NA 0 PE1 NX_Q8TAV3 53844 490 9.03 7 Endoplasmic reticulum lumen;Cell membrane NA 0 PE1 NX_Q8TAV4 32135 291 8.83 13 Cell membrane NA 1 PE1 NX_Q8TAV5 15559 145 7.73 11 Cytosol;Secreted NA 0 PE2 NX_Q8TAW3 60972 534 9.06 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8TAX0 29611 266 9.77 2 Nucleus NA 0 PE1 NX_Q8TAX7 39159 377 8.99 4 Secreted Asthma 0 PE1 NX_Q8TAX9 46786 411 5.15 17 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q8TAY7 28710 271 10.08 1 NA NA 0 PE2 NX_Q8TAZ6 27496 248 9.91 16 Membrane NA 3 PE1 NX_Q8TB03 36670 319 5.92 X Cytosol NA 0 PE1 NX_Q8TB05 18954 177 6.13 16 Cytosol;Nucleus;Cell junction NA 0 PE1 NX_Q8TB22 87899 786 7.08 17 Nucleoplasm;Secreted NA 0 PE1 NX_Q8TB24 107854 985 6.17 14 Cytoplasmic vesicle;Cytoplasm;Early endosome NA 0 PE1 NX_Q8TB33 10359 94 11.18 X NA NA 0 PE4 NX_Q8TB36 41346 358 8.48 8 Cytosol;Cytoplasm;Mitochondrion;Mitochondrion outer membrane Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease, recessive, intermediate type, A;Charcot-Marie-Tooth disease 2K;Charcot-Marie-Tooth disease 4A 2 PE1 NX_Q8TB37 34083 319 9.17 14 Mitochondrion Mitochondrial complex I deficiency 0 PE1 NX_Q8TB40 38794 342 7.13 14 Nucleus NA 0 PE1 NX_Q8TB45 46294 409 8.29 8 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q8TB52 82304 745 5.21 6 Cytoskeleton NA 0 PE1 NX_Q8TB61 47515 432 9.32 6 Cytoplasmic vesicle;Golgi apparatus membrane NA 9 PE1 NX_Q8TB68 30930 274 8.91 5 Synapse;Cytosol;Nucleoplasm;Cell membrane;Dendrite;Perinuclear region;Postsynaptic cell membrane;Nucleus NA 1 PE1 NX_Q8TB69 63020 540 9.48 18 Nucleolus;Nucleus NA 0 PE1 NX_Q8TB72 114216 1066 6.61 2 Cytosol;Cytoplasm;Perinuclear region;Cytoplasmic granule NA 0 PE1 NX_Q8TB73 64673 568 9.07 4 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q8TB92 39514 370 6.12 6 Endoplasmic reticulum membrane;Cytosol NA 0 PE1 NX_Q8TB96 68108 612 5.15 16 Cytoskeleton;Membrane;Secreted NA 1 PE1 NX_Q8TBA6 83024 731 5.6 14 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q8TBB0 25691 222 8.99 4 Nucleus;Centrosome NA 0 PE1 NX_Q8TBB1 80629 728 6.67 4 Cytosol;Cytoplasm;Cell junction NA 0 PE1 NX_Q8TBB5 57892 520 5.52 16 Nucleolus NA 0 PE1 NX_Q8TBB6 84052 771 5.13 3 Lysosome membrane Retinitis pigmentosa 68 15 PE1 NX_Q8TBC3 76344 707 8.58 19 Cell junction;Lysosome NA 0 PE1 NX_Q8TBC4 51852 463 5.3 3 Cytosol;Nucleoplasm;Nucleus;Centrosome;Cell membrane NA 0 PE1 NX_Q8TBC5 54804 510 4.76 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8TBE0 84652 780 9.27 15 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q8TBE1 18976 160 6.17 1 Postsynaptic cell membrane NA 3 PE2 NX_Q8TBE3 25275 224 5.33 5 Membrane NA 1 PE2 NX_Q8TBE7 46422 412 6.99 3 Endosome;Cell membrane NA 10 PE1 NX_Q8TBE9 27813 248 6.01 20 Nucleus membrane NA 0 PE1 NX_Q8TBF2 21223 198 6.2 1 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 NX_Q8TBF4 24592 217 8.69 12 Nucleoplasm NA 0 PE1 NX_Q8TBF5 28788 258 5.91 3 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane NA 1 PE1 NX_Q8TBF8 42392 368 8.98 15 Cytosol;Nucleoplasm NA 0 PE1 NX_Q8TBG4 55671 499 8.32 4 Mitochondrion;Nucleus NA 0 PE1 NX_Q8TBG9 29166 265 6.07 3 Synaptosome;Synaptic vesicle membrane;Golgi apparatus;Cell membrane NA 4 PE1 NX_Q8TBH0 44379 407 9.33 19 Cytosol;Nucleoplasm NA 0 PE1 NX_Q8TBJ4 35795 325 7.04 9 Nucleoplasm;Membrane NA 6 PE1 NX_Q8TBJ5 48811 459 9.52 3 Nucleus NA 0 PE2 NX_Q8TBK2 53189 473 5.24 16 Cytosol;Nucleus NA 0 PE1 NX_Q8TBK6 20967 192 8.69 5 Nucleolus;Nucleus NA 0 PE1 NX_Q8TBM7 14243 123 9.7 10 Nucleoplasm;Cell membrane;Membrane NA 3 PE1 NX_Q8TBM8 42516 379 8.79 4 Endoplasmic reticulum membrane;Nucleus membrane NA 1 PE1 NX_Q8TBN0 42637 382 6.07 11 Cytosol NA 0 PE1 NX_Q8TBP0 86372 767 5.55 17 Cytoskeleton NA 0 PE1 NX_Q8TBP5 19954 190 5.92 5 Cytosol;Golgi apparatus;Membrane NA 1 PE1 NX_Q8TBP6 38125 338 9.43 7 Mitochondrion inner membrane NA 6 PE1 NX_Q8TBQ9 8060 72 9.26 5 Golgi apparatus membrane NA 1 PE1 NX_Q8TBR4 17020 150 5.92 7 NA NA 0 PE5 NX_Q8TBR5 12399 109 12.01 19 NA NA 0 PE5 NX_Q8TBR7 29383 257 9.57 17 Cell membrane NA 7 PE1 NX_Q8TBX8 47300 421 6.36 12 Cytoplasmic vesicle;Cytoplasm;Membrane NA 0 PE1 NX_Q8TBY0 60023 533 7.56 4 NA NA 0 PE1 NX_Q8TBY8 119079 1022 5.94 16 Endoplasmic reticulum NA 0 PE1 NX_Q8TBY9 129952 1149 4.99 12 Cytosol;Golgi apparatus;Cell membrane;Cilium axoneme NA 0 PE1 NX_Q8TBZ0 96726 833 5.88 4 Nucleus NA 0 PE1 NX_Q8TBZ2 108153 947 7.13 17 Cytoplasmic vesicle;Cytoplasm;Membrane NA 0 PE1 NX_Q8TBZ3 62893 569 8.26 14 NA NA 0 PE1 NX_Q8TBZ5 62920 544 9.02 3 Nucleus NA 0 PE1 NX_Q8TBZ6 39719 339 7.29 4 Cytosol;Nucleoplasm;Cytoskeleton;Nucleolus;Nucleus Microcephaly, short stature, and impaired glucose metabolism 1 0 PE1 NX_Q8TBZ8 63735 553 8.99 19 Nucleus;Golgi apparatus NA 0 PE1 NX_Q8TBZ9 29483 253 7.21 7 Mitochondrion;Nucleoplasm NA 0 PE1 NX_Q8TC05 80735 714 9.16 12 Centriole;Cytosol;Nucleus;Centrosome NA 0 PE1 NX_Q8TC07 79491 691 5.44 12 Mitochondrion;Cytoplasm;Cytosol NA 0 PE1 NX_Q8TC12 35386 318 9.05 14 Endoplasmic reticulum membrane Retinal dystrophy, juvenile cataracts, and short stature syndrome 1 PE1 NX_Q8TC17 13442 118 7.89 17 NA NA 0 PE2 NX_Q8TC20 90250 777 5.21 6 NA NA 0 PE1 NX_Q8TC21 58513 504 9.19 8 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 NX_Q8TC26 31469 289 7.06 2 Synaptic vesicle membrane;Early endosome membrane NA 6 PE1 NX_Q8TC27 87948 787 5.39 8 Cytoplasmic vesicle;Nucleus;Membrane NA 1 PE1 NX_Q8TC29 29454 256 9.34 10 Flagellum NA 0 PE1 NX_Q8TC36 43081 379 8.61 20 Nucleus inner membrane;Golgi apparatus Spermatogenic failure 16 1 PE1 NX_Q8TC41 59372 542 7.65 6 Membrane NA 1 PE1 NX_Q8TC44 53668 478 6.79 12 Centriole;Centrosome;Spindle pole;Cilium basal body Cone-rod dystrophy 20 0 PE1 NX_Q8TC56 64756 605 9.52 5 Nucleus NA 0 PE1 NX_Q8TC57 59386 530 6.4 2 Mitochondrion;Cytoplasm;Nucleolus NA 0 PE1 NX_Q8TC59 109849 973 9.16 8 Cytoplasm NA 0 PE1 NX_Q8TC71 61109 538 8.93 4 Cytoplasm;Mitochondrion outer membrane NA 0 PE1 NX_Q8TC76 40728 370 9.45 8 Mitochondrion;Cytoplasm;Cytosol;Centrosome NA 0 PE1 NX_Q8TC84 38341 345 8.93 10 Cytosol;Nucleoplasm;Nucleus;Cilium;Cilium basal body NA 0 PE1 NX_Q8TC90 46482 406 4.64 12 NA NA 0 PE1 NX_Q8TC92 73348 643 5.4 13 Extracellular space;Cell membrane NA 0 PE1 NX_Q8TC94 45627 416 6.61 19 Cytoskeleton NA 0 PE1 NX_Q8TC99 35921 324 5.01 17 NA NA 0 PE1 NX_Q8TCA0 20509 184 6.11 10 Nucleoplasm;Cytosol NA 0 PE1 NX_Q8TCB0 50491 444 6.44 1 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q8TCB6 35271 317 8.71 11 Cell membrane NA 7 PE2 NX_Q8TCB7 33251 284 5.85 3 Cytoplasmic vesicle NA 0 PE1 NX_Q8TCC3 18546 161 10.01 2 Mitochondrion NA 0 PE1 NX_Q8TCC7 59856 542 9.07 11 Basolateral cell membrane NA 11 PE1 NX_Q8TCD1 8669 76 9.24 18 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 NX_Q8TCD5 23383 201 6.18 17 Cytosol;Cytoplasm NA 0 PE1 NX_Q8TCD6 27769 241 6.31 2 Cytoplasmic vesicle NA 0 PE1 NX_Q8TCE6 40513 357 6.15 10 NA NA 0 PE1 NX_Q8TCE9 16094 139 6.4 19 Nucleus NA 0 PE1 NX_Q8TCF1 30787 268 7.14 8 Cytosol;Stress granule;Centrosome NA 0 PE1 NX_Q8TCG1 102185 905 5.85 3 Cytosol;Cytoplasm;Cell membrane;Membrane NA 1 PE1 NX_Q8TCG2 54744 481 5.71 4 Cytosol;Cytoplasm;Membrane NA 0 PE1 NX_Q8TCG5 90989 803 8.33 19 Synapse;Endoplasmic reticulum;Mitochondrion outer membrane;Axon;Dendrite;Centrosome Spastic paraplegia 73, autosomal dominant 2 PE1 NX_Q8TCH9 14227 128 7.15 22 NA NA 0 PE2 NX_Q8TCI5 21973 191 9.91 1 Cytoplasmic vesicle;Cytoplasm;trans-Golgi network NA 0 PE1 NX_Q8TCJ0 43313 367 8.35 8 Nucleus NA 0 PE1 NX_Q8TCJ2 93674 826 9.04 3 Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1X 13 PE1 NX_Q8TCN5 105767 953 5.47 19 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q8TCP9 66276 573 5.82 7 Membrane NA 1 PE1 NX_Q8TCQ1 32308 289 8.76 4 Lysosome membrane;trans-Golgi network membrane;Early endosome membrane;Cell membrane;Late endosome membrane;Mitochondrion;Cytoplasmic vesicle membrane NA 2 PE1 NX_Q8TCS8 85951 783 7.87 2 Mitochondrion;Cytoplasm;Mitochondrion intermembrane space Combined oxidative phosphorylation deficiency 13;Deafness, autosomal recessive, 70 0 PE1 NX_Q8TCT0 59977 537 8.54 22 Cytoplasmic vesicle;Cytoplasm;Membrane NA 0 PE1 NX_Q8TCT1 29713 267 7.64 17 Cytoskeleton;Cell membrane NA 0 PE1 NX_Q8TCT6 42261 384 8.64 12 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus;Cell membrane;Membrane NA 9 PE1 NX_Q8TCT7 64644 592 8.67 19 Lysosome membrane;Nucleoplasm;Cell membrane;Endosome membrane;Golgi apparatus membrane;Membrane;Centrosome NA 9 PE1 NX_Q8TCT8 58143 520 8.65 15 Cytoplasmic vesicle;Late endosome membrane;Lysosome membrane;Membrane NA 9 PE1 NX_Q8TCT9 41488 377 6 20 Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum;Membrane NA 9 PE1 NX_Q8TCU3 52114 470 9.08 8 Membrane NA 12 PE2 NX_Q8TCU4 461062 4168 5.87 2 Cytosol;Centrosome;Cytoplasm;Spindle pole;Cilium basal body Alstrom syndrome 0 PE1 NX_Q8TCU5 125465 1115 7.4 9 Postsynaptic density;Postsynaptic cell membrane;Cell membrane NA 3 PE1 NX_Q8TCU6 186203 1659 6.03 20 Cytosol;Cytoplasm;Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_Q8TCV5 24238 224 8.4 20 Secreted NA 0 PE1 NX_Q8TCW7 45530 415 7.92 3 Nucleoplasm;Cytoplasmic vesicle membrane;Extracellular matrix NA 1 PE2 NX_Q8TCW9 44770 393 8.68 2 Cell membrane NA 7 PE1 NX_Q8TCX1 39625 351 7.1 2 Cytosol;Cytoplasm;Centrosome;Cilium axoneme;Cilium;Cilium basal body Short-rib thoracic dysplasia 15 with polydactyly 0 PE1 NX_Q8TCX5 73590 670 7.3 8 Nucleoplasm NA 0 PE1 NX_Q8TCY0 7880 68 9.49 21 Membrane NA 1 PE2 NX_Q8TCY5 19136 172 7.75 21 Endoplasmic reticulum membrane;Cell membrane Glucocorticoid deficiency 2 1 PE1 NX_Q8TCY9 104987 931 6 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q8TCZ2 27986 262 4.92 X Golgi apparatus;Cell junction;Cell membrane NA 1 PE1 NX_Q8TCZ7 5991 52 8.8 21 NA NA 0 PE5 NX_Q8TD06 19171 166 7.76 7 Cytoplasmic vesicle;Endoplasmic reticulum NA 0 PE1 NX_Q8TD07 30122 263 8.45 6 Cytosol;Focal adhesion;Secreted;Membrane NA 1 PE1 NX_Q8TD08 59832 544 9.17 8 Golgi apparatus;Nucleoplasm;Cytoplasm;Centriole;Cytosol;Nucleus;Autophagosome;Spindle;Cell junction;Tight junction;Cilium basal body NA 0 PE1 NX_Q8TD10 51537 442 5.55 14 Cytosol NA 0 PE1 NX_Q8TD16 93533 824 5.35 9 Golgi apparatus;Cytosol;Cytoplasm;Nuclear pore complex;Nucleus envelope;Cell membrane;Cytoskeleton Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant 0 PE1 NX_Q8TD17 71311 642 6.2 7 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 NX_Q8TD19 107168 979 5.51 14 Mitochondrion;Cytoplasm;Nucleus Arthrogryposis, Perthes disease, and upward gaze palsy;Nevus comedonicus;Lethal congenital contracture syndrome 10 0 PE1 NX_Q8TD20 66966 617 8.66 6 Perinuclear region;Cell junction;Cell membrane;Endomembrane system NA 12 PE1 NX_Q8TD22 37124 340 9.4 2 Mitochondrion;Nucleoplasm;Mitochondrion membrane NA 4 PE1 NX_Q8TD23 66299 568 9.11 19 Nucleus NA 0 PE1 NX_Q8TD26 305412 2715 5.9 20 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8TD30 57904 523 7.85 16 Mitochondrion Mental retardation, autosomal recessive 49 0 PE1 NX_Q8TD31 88671 782 5.76 6 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q8TD33 10414 95 4.55 11 Secreted NA 0 PE3 NX_Q8TD35 21508 194 10.61 20 Nucleus NA 0 PE1 NX_Q8TD43 134301 1214 8.49 19 Nucleoplasm;Cell membrane;Endoplasmic reticulum;Golgi apparatus Progressive familial heart block 1B 6 PE1 NX_Q8TD46 36620 325 8.19 3 Cell membrane;Secreted NA 1 PE1 NX_Q8TD47 29295 263 10.1 Y NA NA 0 PE2 NX_Q8TD55 53350 490 5.34 15 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 NX_Q8TD57 470771 4116 6.04 16 Cytoskeleton;Cilium axoneme;Nucleus membrane NA 0 PE1 NX_Q8TD84 224463 2053 8.43 11 Synapse;Cell membrane NA 1 PE1 NX_Q8TD86 20690 181 4.47 1 Cytoplasm;Nucleus NA 0 PE2 NX_Q8TD90 60378 523 5 X NA NA 0 PE2 NX_Q8TD91 71909 643 4.77 X NA NA 0 PE1 NX_Q8TD94 33094 323 8.26 7 Nucleus NA 0 PE1 NX_Q8TDB4 25390 240 4.4 4 Mitochondrion;Mitochondrion outer membrane NA 1 PE1 NX_Q8TDB6 83554 740 8.31 3 Lysosome membrane;Cytosol;Cytoplasm;Early endosome membrane;Nucleoplasm;Nucleus NA 0 PE1 NX_Q8TDB8 56320 520 8 12 Membrane NA 12 PE1 NX_Q8TDC0 27157 251 9.42 5 Z line NA 0 PE1 NX_Q8TDC3 85087 778 9.39 19 Nucleoplasm;Cytoplasm;Synapse;Nucleus;Centrosome NA 0 PE1 NX_Q8TDD1 98595 881 10.03 12 Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 NX_Q8TDD2 44994 431 8.67 12 Nucleus Osteogenesis imperfecta 12 0 PE1 NX_Q8TDD5 64248 553 5.8 1 Autophagosome membrane;Nucleolus;Cytosol;Early endosome membrane;Cell membrane;Late endosome membrane;Lysosome membrane NA 6 PE1 NX_Q8TDE3 17041 154 8.69 14 Secreted NA 0 PE1 NX_Q8TDF5 60191 533 6.61 18 Postsynaptic density;Cell membrane;Golgi apparatus;Secreted NA 1 PE1 NX_Q8TDF6 74882 673 8.34 19 Cytoplasm;Cell membrane NA 0 PE1 NX_Q8TDG2 41696 376 6.32 X Cytoplasm;Cytoskeleton;Nucleus NA 0 PE2 NX_Q8TDG4 124131 1101 6.17 4 Nucleoplasm;Nucleus speckle NA 0 PE1 NX_Q8TDH9 21609 187 7.14 6 NA NA 0 PE1 NX_Q8TDI0 223050 1954 5.82 1 Cytosol;Nucleus speckle;Nucleus;Nucleoplasm NA 0 PE1 NX_Q8TDI7 102610 906 9.5 20 Cell membrane NA 6 PE2 NX_Q8TDI8 87768 760 6.22 9 Cell membrane Deafness, autosomal dominant, 36;Deafness, autosomal recessive, 7 6 PE1 NX_Q8TDJ6 339641 3036 5.93 15 Synaptic vesicle membrane Deafness, autosomal dominant, 71;Polyendocrine-polyneuropathy syndrome 0 PE1 NX_Q8TDL5 52442 484 6.72 20 Secreted NA 0 PE1 NX_Q8TDM0 22758 211 5.59 20 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q8TDM5 13004 124 5.49 19 Acrosome;Cell membrane NA 0 PE1 NX_Q8TDM6 213868 1919 7.1 10 Postsynaptic density;Cell junction;Cell membrane;Cilium basal body NA 0 PE1 NX_Q8TDN1 58979 519 6.23 16 Cell membrane NA 6 PE1 NX_Q8TDN2 62459 545 6.08 9 Cell membrane Cone dystrophy retinal 3B 6 PE1 NX_Q8TDN4 67599 633 9.32 18 Cytoplasm;Nucleus NA 0 PE1 NX_Q8TDN6 41401 353 9.92 5 Nucleolus;Nucleus NA 0 PE1 NX_Q8TDN7 31095 264 6.64 19 Endoplasmic reticulum membrane NA 7 PE2 NX_Q8TDP1 17840 164 4.95 11 Nucleus Aicardi-Goutieres syndrome 3 0 PE1 NX_Q8TDQ0 33394 301 5.54 5 Cell junction;Membrane NA 1 PE1 NX_Q8TDQ1 32335 290 5.45 17 Cell membrane NA 1 PE1 NX_Q8TDQ7 31085 276 6.45 4 Cytoplasm NA 0 PE1 NX_Q8TDR0 78632 691 7.95 2 Cytoskeleton;Cilium;Cilium axoneme;Cilium basal body Senior-Loken syndrome 9 0 PE1 NX_Q8TDR2 58051 534 9.78 20 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q8TDR4 23863 215 9.71 21 Nucleus NA 0 PE1 NX_Q8TDS4 41850 363 9.34 12 Cell membrane NA 7 PE1 NX_Q8TDS5 45811 423 9.75 2 Cell membrane NA 7 PE1 NX_Q8TDS7 36118 321 9.25 11 Cell membrane NA 7 PE2 NX_Q8TDT2 50962 470 4.59 11 Cell membrane NA 7 PE1 NX_Q8TDU5 23857 208 9.14 1 Cell membrane NA 5 PE5 NX_Q8TDU6 35248 330 9.62 2 Cell membrane NA 7 PE1 NX_Q8TDU9 41141 374 10.32 1 Cell membrane NA 7 PE1 NX_Q8TDV0 46637 419 6.13 5 Cell membrane NA 7 PE2 NX_Q8TDV2 38288 347 8.81 2 Cell membrane NA 7 PE2 NX_Q8TDV5 36889 335 9.1 X Cell membrane NA 7 PE1 NX_Q8TDW0 92450 803 7.54 1 Endoplasmic reticulum membrane;Cell membrane;Golgi apparatus NA 4 PE1 NX_Q8TDW4 64779 575 7.26 1 Centrosome;Membrane NA 2 PE1 NX_Q8TDW5 81523 730 8.96 X Cytosol;Nucleoplasm;Cytoskeleton;Membrane NA 0 PE1 NX_Q8TDW7 501978 4557 4.72 11 Membrane NA 1 PE1 NX_Q8TDX5 38035 336 6.52 2 NA NA 0 PE1 NX_Q8TDX6 61294 532 8.63 8 Golgi stack membrane;Cytoskeleton NA 1 PE1 NX_Q8TDX7 34551 302 8.49 1 Nucleoplasm;Cytoplasm;Nucleus;Spindle pole;Centrosome NA 0 PE1 NX_Q8TDX9 315435 2849 6.64 7 Cilium membrane Heterotaxy, visceral, 8, autosomal 11 PE1 NX_Q8TDY2 183091 1594 5.3 8 Nucleus membrane;Lysosome;Cytosol;Cytoplasm;Preautophagosomal structure;Nucleus NA 0 PE1 NX_Q8TDY3 41702 377 5.28 1 Cytoskeleton NA 0 PE1 NX_Q8TDY4 99155 903 5.98 1 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 NX_Q8TDY8 134210 1250 5.81 15 Cytosol;Nucleoplasm;Cell membrane NA 1 PE1 NX_Q8TDZ2 117875 1067 6 6 Cytoplasm;Cytoskeleton;Midbody NA 0 PE1 NX_Q8TE02 34841 316 4.81 17 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q8TE04 64339 598 7.51 10 Cytoplasm NA 0 PE1 NX_Q8TE12 42747 382 7.03 1 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 NX_Q8TE23 95183 839 6.08 1 Cell membrane NA 7 PE3 NX_Q8TE49 100677 926 8.68 15 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q8TE54 72213 656 8.17 8 Recycling endosome membrane NA 11 PE1 NX_Q8TE56 121127 1095 8.47 15 Nucleus;Extracellular matrix Weill-Marchesani syndrome 4 0 PE1 NX_Q8TE57 136203 1224 8.99 5 Extracellular matrix NA 0 PE1 NX_Q8TE58 103287 950 8.94 11 Cytosol;Extracellular matrix NA 0 PE1 NX_Q8TE59 134048 1207 7.8 5 Cytoplasmic vesicle;Midbody;Extracellular matrix NA 0 PE1 NX_Q8TE60 135167 1221 8.91 16 Extracellular matrix Microcornea, myopic chorioretinal atrophy, and telecanthus 0 PE1 NX_Q8TE67 66861 593 8.09 1 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q8TE68 80251 723 5.76 19 Cytosol;Cytoplasm NA 0 PE1 NX_Q8TE69 17891 158 6.43 X NA NA 0 PE1 NX_Q8TE73 529021 4624 5.79 5 Cilium axoneme Ciliary dyskinesia, primary, 3 0 PE1 NX_Q8TE76 106348 937 7.22 X Nucleoplasm;Nucleus NA 0 PE1 NX_Q8TE77 72996 659 5.19 11 Cytosol;Nucleus speckle;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 NX_Q8TE82 146961 1336 5.85 4 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q8TE85 70345 626 6.4 1 Nucleoplasm;Nucleus Van der Woude syndrome 2 0 PE1 NX_Q8TE96 79476 717 4.93 2 Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q8TE99 55240 480 9.17 3 Golgi apparatus membrane NA 1 PE1 NX_Q8TEA1 51770 469 8.18 10 Golgi apparatus NA 0 PE1 NX_Q8TEA7 100679 893 6.12 4 Nucleoplasm;Cytoplasm;Spindle;Nucleolus;Midbody Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 PE1 NX_Q8TEA8 23424 209 8.35 20 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q8TEB1 61670 546 5.97 14 Nucleoplasm NA 0 PE1 NX_Q8TEB7 46521 428 5.92 X Cytoskeleton;Perinuclear region;Endomembrane system NA 1 PE1 NX_Q8TEB9 35823 315 8.47 2 Mitochondrion;Endoplasmic reticulum membrane;Endoplasmic reticulum;Membrane NA 4 PE1 NX_Q8TEC5 79320 729 9.96 5 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8TED0 58415 518 9.18 5 Nucleolus;Endoplasmic reticulum NA 0 PE1 NX_Q8TED1 23881 209 9.41 5 Cytosol;Cytoskeleton;Membrane NA 1 PE1 NX_Q8TED4 54436 501 6.36 11 Endoplasmic reticulum membrane NA 12 PE1 NX_Q8TED9 86432 768 6.38 5 Cytoplasm;Podosome;Invadopodium;Stress fiber NA 0 PE1 NX_Q8TEE9 20873 199 7.64 7 Cytoplasm;Nucleus NA 0 PE1 NX_Q8TEF2 14519 133 8.75 10 Membrane NA 1 PE2 NX_Q8TEH3 110577 1009 6.51 9 Cytosol;Cytoplasmic vesicle;Clathrin-coated vesicle membrane;Presynaptic cell membrane;Nucleoplasm NA 0 PE1 NX_Q8TEJ3 92776 882 9.09 2 Nucleoplasm;Cytosol;Centrosome NA 0 PE1 NX_Q8TEK3 164856 1537 9.26 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8TEL6 90852 797 7.54 20 Cytosol NA 0 PE1 NX_Q8TEM1 205111 1887 6.33 3 Endoplasmic reticulum membrane;Nuclear pore complex;Nucleus membrane NA 1 PE1 NX_Q8TEP8 279111 2537 5.31 18 Cytosol;Centriole;Centrosome NA 0 PE1 NX_Q8TEQ0 91254 813 5.86 16 NA NA 0 PE1 NX_Q8TEQ6 168589 1508 6.17 5 Cytosol;Nucleoplasm;Nucleus;Gem;Cytoplasm NA 0 PE1 NX_Q8TEQ8 118699 1089 8.38 9 Endoplasmic reticulum membrane;Nucleolus;Nucleus Hyperphosphatasia with mental retardation syndrome 2 14 PE1 NX_Q8TER0 152204 1413 6.59 2 Secreted NA 0 PE1 NX_Q8TER5 164658 1519 5.8 14 Cytoplasm NA 0 PE1 NX_Q8TES7 125446 1133 6.62 17 Centriole;Centrosome;Spindle pole;Cell junction NA 0 PE1 NX_Q8TET4 104334 914 5.82 15 Nucleoplasm;Cytoskeleton NA 0 PE1 NX_Q8TEU7 179423 1601 5.98 5 Cytosol;Cytoplasm;Centrosome;Cell membrane NA 0 PE1 NX_Q8TEU8 63941 576 5.85 17 Secreted NA 0 PE1 NX_Q8TEV8 15285 140 10.67 17 NA NA 0 PE2 NX_Q8TEV9 105022 937 5.36 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q8TEW0 151423 1356 7.41 10 Cytoplasm;Cell cortex;Cell membrane;Endomembrane system;Adherens junction;Cytoskeleton;Cell junction;Tight junction Neural tube defects 0 PE1 NX_Q8TEW6 37028 326 8.37 16 Cytoplasmic vesicle;Cytoskeleton NA 0 PE1 NX_Q8TEW8 132494 1205 8.54 2 Nucleoplasm;Nucleus;Cell junction;Tight junction;Endomembrane system NA 0 PE1 NX_Q8TEX9 118715 1081 4.88 14 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q8TEY5 43432 395 5.28 1 Endoplasmic reticulum membrane;Nucleus membrane;Nucleoplasm;Golgi apparatus membrane;Mitochondrion;Nucleus NA 1 PE1 NX_Q8TEY7 106727 942 5.69 1 Nucleoplasm;Perinuclear region;Centrosome;Golgi apparatus NA 0 PE1 NX_Q8TEZ7 40464 354 8.69 6 Golgi apparatus;Cell membrane NA 7 PE1 NX_Q8TF01 92577 805 10.02 6 Cytosol;Nucleus speckle NA 0 PE1 NX_Q8TF05 107004 950 4.64 18 Nucleoplasm NA 0 PE1 NX_Q8TF08 9077 81 9.74 4 Mitochondrion inner membrane NA 1 PE2 NX_Q8TF09 10855 96 6.91 16 Cytoskeleton NA 0 PE1 NX_Q8TF17 144777 1288 5.95 5 Cytosol;Nucleoplasm Mononeuropathy of the median nerve mild;Charcot-Marie-Tooth disease 4C 0 PE1 NX_Q8TF20 105084 911 9.55 4 Nucleus NA 0 PE1 NX_Q8TF21 124187 1146 4.98 19 Cytosol;Cytoskeleton NA 0 PE1 NX_Q8TF27 60549 550 7.82 10 NA NA 0 PE2 NX_Q8TF30 90924 809 6.67 15 Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;Cytoplasmic vesicle membrane;cis-Golgi network;Cytoplasm NA 0 PE1 NX_Q8TF32 67217 576 9.03 19 Nucleus NA 0 PE1 NX_Q8TF39 85098 744 8.88 9 Nucleolus;Nucleus NA 0 PE1 NX_Q8TF40 130555 1166 5.33 5 Cytoplasm NA 0 PE1 NX_Q8TF42 72696 649 6.48 11 Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q8TF44 44576 421 9.75 19 Cytoplasmic vesicle NA 0 PE1 NX_Q8TF45 77858 676 8.75 19 Nucleus NA 0 PE1 NX_Q8TF46 120787 1054 6.09 15 Cytosol;Cytoplasm;Centrosome;Cell membrane NA 0 PE1 NX_Q8TF47 73031 636 8.37 16 Cytoplasmic vesicle;Nucleus;Centrosome;Cell membrane NA 0 PE1 NX_Q8TF50 73622 670 6.01 19 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 NX_Q8TF61 94496 875 8.6 2 Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q8TF62 135868 1192 6.56 15 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus;Cell membrane NA 10 PE1 NX_Q8TF63 26704 244 9.97 5 Cytoplasm;Nucleus NA 0 PE1 NX_Q8TF64 33982 312 5.5 19 Nucleoplasm;Nucleus;Golgi apparatus Deafness, autosomal recessive, 15 0 PE1 NX_Q8TF65 34354 315 6.07 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q8TF66 64366 581 6.24 3 Cytoplasmic vesicle;Cell membrane;Membrane NA 1 PE1 NX_Q8TF68 63219 577 9.18 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8TF71 55493 515 7.87 6 Cytoplasmic vesicle;Basolateral cell membrane;Cell junction;Cell membrane NA 12 PE1 NX_Q8TF72 216857 1996 7.87 4 Adherens junction;Cytoskeleton NA 0 PE1 NX_Q8TF74 46289 440 10.93 17 Nucleoplasm;Cytoskeleton NA 0 PE1 NX_Q8TF76 88495 798 9.32 17 Spindle;Nucleus;Chromosome NA 0 PE1 NX_Q8WTP8 36350 325 9.4 15 Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 NX_Q8WTP9 12302 111 4.4 X NA NA 0 PE1 NX_Q8WTQ1 8526 72 9.41 8 Secreted NA 0 PE1 NX_Q8WTQ4 30819 265 9.8 16 NA NA 0 PE1 NX_Q8WTQ7 62212 553 6.18 3 Membrane NA 0 PE1 NX_Q8WTR2 24194 217 6.11 2 Nucleoplasm NA 0 PE1 NX_Q8WTR4 68586 605 7.64 11 Perinuclear region;Growth cone;Golgi apparatus;Endomembrane system NA 6 PE1 NX_Q8WTR7 100182 871 8.63 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8WTR8 53174 489 9.63 19 Endoplasmic reticulum;Secreted NA 0 PE2 NX_Q8WTS1 39096 349 6.17 3 Cytoplasmic vesicle;Cytoplasm;Lipid droplet Chanarin-Dorfman syndrome 0 PE1 NX_Q8WTS6 40721 366 4.5 4 Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_Q8WTT0 25038 213 6.59 12 Cell membrane NA 1 PE1 NX_Q8WTT2 92548 800 9.22 10 Nucleus speckle;Nucleolus;Nucleus NA 0 PE1 NX_Q8WTU0 44124 396 5.51 11 NA NA 0 PE1 NX_Q8WTU2 60819 575 5.57 7 Secreted NA 0 PE1 NX_Q8WTV0 60878 552 8.55 12 Cytoplasmic vesicle;Caveola;Cell membrane NA 2 PE1 NX_Q8WTV1 27059 239 10.26 1 Nucleus NA 0 PE1 NX_Q8WTW3 108978 980 6.96 17 Golgi apparatus membrane Congenital disorder of glycosylation 2G 0 PE1 NX_Q8WTW4 43658 380 6.1 3 Cytosol;Lysosome membrane Epilepsy, familial focal, with variable foci 2 0 PE1 NX_Q8WTX7 36275 329 5.05 22 Cytosol NA 0 PE1 NX_Q8WTX9 54818 485 10.35 16 Cytosol;Membrane NA 4 PE1 NX_Q8WTZ3 27158 238 8.81 19 Nucleus NA 0 PE2 NX_Q8WTZ4 22622 195 10.76 X NA NA 0 PE5 NX_Q8WU03 34277 294 6.22 11 Mitochondrion;Endoplasmic reticulum NA 0 PE1 NX_Q8WU08 46369 396 6.87 5 Centrosome;Cell membrane NA 0 PE1 NX_Q8WU10 55793 500 5.58 12 Sarcomere;Nucleus speckle;Nucleus Myopathy, myofibrillar, 8 0 PE1 NX_Q8WU17 75994 664 5.99 8 Endoplasmic reticulum membrane Renal cell carcinoma 12 PE1 NX_Q8WU20 57029 508 5.65 12 Cell junction;Endomembrane system NA 0 PE1 NX_Q8WU39 20694 189 5.37 5 Cytoplasm;Endoplasmic reticulum lumen;Secreted NA 0 PE1 NX_Q8WU43 13691 125 5.92 2 NA NA 0 PE1 NX_Q8WU49 19475 177 10.26 7 NA NA 0 PE2 NX_Q8WU58 59652 562 9.35 17 Nucleoplasm NA 0 PE1 NX_Q8WU66 74924 669 6.01 21 Cell surface;Stereocilium;Secreted Deafness, autosomal recessive, 98 0 PE1 NX_Q8WU67 46009 409 6.7 18 Cytoplasmic vesicle;Nucleus;Cell membrane;Membrane NA 1 PE1 NX_Q8WU68 25744 220 6.7 19 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 NX_Q8WU76 75127 684 6.21 4 Nucleus NA 0 PE1 NX_Q8WU79 46786 429 9.01 1 Cytoplasm NA 0 PE1 NX_Q8WU90 48602 426 5.22 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q8WUA2 57225 492 5.63 6 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8WUA4 100680 911 6.94 2 Nucleus NA 0 PE1 NX_Q8WUA7 59121 517 5.63 22 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_Q8WUA8 37807 353 6.38 11 Nucleus;Secreted NA 0 PE1 NX_Q8WUB2 30792 273 9.39 12 Cytoskeleton NA 0 PE1 NX_Q8WUB8 56051 498 6.23 6 Nucleus NA 0 PE1 NX_Q8WUD1 24214 216 7.69 14 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell membrane NA 0 PE1 NX_Q8WUD4 19181 166 6.81 3 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8WUD6 45097 406 6.45 12 Cytoplasmic vesicle;Golgi apparatus membrane NA 8 PE1 NX_Q8WUE5 29052 264 5.26 X NA NA 0 PE1 NX_Q8WUF5 89091 828 6.37 19 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q8WUF8 47972 416 5.75 5 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Nucleoplasm NA 0 PE1 NX_Q8WUG5 57686 538 7.14 14 Vacuole membrane;Cell membrane NA 11 PE1 NX_Q8WUH1 16111 139 5.35 14 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q8WUH2 97158 860 6.1 2 Cytoplasmic vesicle;Cytoplasm;Early endosome NA 0 PE1 NX_Q8WUH6 11748 116 9.3 12 Membrane NA 2 PE1 NX_Q8WUI4 102927 952 7.24 12 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q8WUJ0 25492 223 5.89 14 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q8WUJ1 28690 264 8.73 17 Nucleolus;Centrosome;Nucleus membrane;Secreted NA 0 PE1 NX_Q8WUJ3 152998 1361 7.98 15 Secreted;Cytoplasm;Clathrin-coated pit;Endoplasmic reticulum;Nucleus;Cell membrane NA 0 PE1 NX_Q8WUK0 22844 201 9.8 11 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_Q8WUM0 128979 1156 4.97 1 Kinetochore;Nuclear pore complex;Nucleus membrane NA 0 PE1 NX_Q8WUM4 96023 868 6.13 3 Melanosome;Cytosol;Midbody ring;Centrosome;Exosome;Tight junction NA 0 PE1 NX_Q8WUM9 73700 679 6.65 2 Cytoplasmic vesicle;Membrane NA 10 PE1 NX_Q8WUN7 26190 234 5.45 5 Cytoplasm NA 0 PE1 NX_Q8WUP2 40670 373 5.71 1 Focal adhesion;Nucleolus;Cell junction;Stress fiber NA 0 PE1 NX_Q8WUQ7 88702 758 9.17 19 Cytosol;Nucleoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q8WUR7 16353 153 9.85 15 Cytosol;Nucleus NA 0 PE1 NX_Q8WUS8 44284 393 8.43 16 Membrane NA 2 PE2 NX_Q8WUT4 78843 740 6.82 20 Cytosol;Nucleolus;Membrane NA 1 PE1 NX_Q8WUT9 37718 341 9.91 X Mitochondrion inner membrane;Nucleus NA 6 PE1 NX_Q8WUU4 50810 475 9.13 19 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q8WUU5 28690 269 9.47 7 Nucleus Cardiomyopathy, dilated 2B 0 PE1 NX_Q8WUU8 26287 243 4.2 5 Endoplasmic reticulum membrane NA 2 PE1 NX_Q8WUW1 8745 75 5.35 3 Nucleus speckle;Cytoskeleton;Cell junction NA 0 PE1 NX_Q8WUX1 51457 472 8.53 X Cytosol;Cytoplasmic vesicle;Cell membrane NA 11 PE1 NX_Q8WUX2 20875 184 5.31 2 Cytosol NA 0 PE1 NX_Q8WUX9 50911 453 5.26 8 Cytosol;Cytoplasm;Nucleus;Nucleus envelope NA 0 PE1 NX_Q8WUY1 23865 208 9.71 8 Cytosol;Nucleus speckle;Secreted NA 0 PE1 NX_Q8WUY3 340635 3088 4.34 9 Cytoplasm NA 0 PE1 NX_Q8WUY8 21650 206 10.75 19 Mitochondrion;Membrane NA 1 PE1 NX_Q8WUY9 61771 529 9.04 5 Cytosol;Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q8WUZ0 23468 217 5.15 16 Nucleoplasm NA 0 PE1 NX_Q8WV07 15354 137 5.5 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8WV15 34609 326 6.28 13 Nucleoplasm;Membrane NA 4 PE2 NX_Q8WV16 55694 495 9.38 14 Nucleoplasm NA 0 PE1 NX_Q8WV19 17804 159 8.98 6 Cytosol;Nucleoplasm;Nucleus;Membrane NA 4 PE1 NX_Q8WV22 30855 266 7.13 16 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Telomere NA 0 PE1 NX_Q8WV24 45016 401 9.94 12 Cytoplasmic vesicle;Cytoplasm;Nucleolus NA 0 PE1 NX_Q8WV28 50466 456 8.18 10 Cytosol;Cytoplasm;Cell membrane Agammaglobulinemia 4, autosomal recessive 0 PE1 NX_Q8WV35 23797 223 8.08 16 Nucleoplasm NA 0 PE1 NX_Q8WV37 61708 535 9.26 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8WV41 65265 574 6.3 15 Cytosol;Cytoplasmic vesicle membrane;Membrane NA 0 PE1 NX_Q8WV44 71670 630 4.99 5 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q8WV48 30509 283 5.04 9 Nucleoplasm;Cell membrane;Membrane NA 1 PE1 NX_Q8WV60 43968 388 9.33 5 Mitochondrion NA 0 PE1 NX_Q8WV74 25370 236 8.74 11 Cytosol;Nucleolus NA 0 PE1 NX_Q8WV83 58887 523 9.39 2 Cell membrane;Membrane NA 10 PE1 NX_Q8WV92 29314 249 8.12 2 Cytoplasmic vesicle;Late endosome membrane;Midbody;Membrane NA 0 PE1 NX_Q8WV93 54845 481 6.87 6 Cytosol;Cell membrane;Mitochondrion membrane NA 0 PE1 NX_Q8WV99 28023 257 6.5 2 Cytosol;Endoplasmic reticulum membrane;Nucleolus;Nucleus NA 0 PE1 NX_Q8WVB3 53790 486 5.61 17 Mitochondrion;Cytoplasm;Nucleolus;Nucleus;Extracellular vesicle NA 0 PE1 NX_Q8WVB6 107383 975 6.78 16 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q8WVC0 75404 666 4.38 15 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q8WVC6 26550 231 9.61 17 Nucleus NA 0 PE1 NX_Q8WVD3 28193 245 6.5 18 Mitochondrion;Chromosome NA 0 PE1 NX_Q8WVD5 25535 230 5.07 11 Nucleoplasm;Cytoskeleton;Membrane NA 0 PE1 NX_Q8WVE0 24506 214 4.47 13 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q8WVE6 34760 324 4.73 5 Membrane NA 4 PE1 NX_Q8WVE7 15250 144 9.3 16 Endoplasmic reticulum membrane;Nucleus envelope NA 3 PE1 NX_Q8WVF1 44586 389 5.64 1 Basal cell membrane;Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_Q8WVF2 16563 138 5.47 10 Extracellular matrix NA 0 PE1 NX_Q8WVF5 29967 259 6.62 13 Microtubule organizing center NA 0 PE1 NX_Q8WVH0 17557 158 4.89 15 Synapse;Membrane NA 0 PE1 NX_Q8WVI0 8696 70 10.87 3 Nucleoplasm;Mitochondrion;Cell membrane;Membrane NA 1 PE1 NX_Q8WVI7 12346 109 6.31 2 Cytoplasm;Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 NX_Q8WVJ2 17676 157 4.99 5 Kinetochore;Cytoplasm;Nucleus;Centrosome;Spindle pole NA 0 PE1 NX_Q8WVJ9 18124 160 9.51 2 Cytoplasm;Nucleolus;Nucleus Focal facial dermal dysplasia 3, Setleis type;Barber-Say syndrome;Ablepharon-macrostomia syndrome 0 PE1 NX_Q8WVK2 18860 155 11.62 2 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8WVK7 14188 121 6.75 17 Kinetochore;Spindle NA 0 PE1 NX_Q8WVL7 27290 239 5 11 Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 NX_Q8WVM0 39543 346 9.35 6 Mitochondrion NA 0 PE1 NX_Q8WVM7 144427 1258 5.4 3 Centromere;Nucleus;Chromosome Mental retardation, autosomal dominant 47 0 PE1 NX_Q8WVM8 72380 642 5.89 14 Nucleoplasm;Golgi stack membrane;Endoplasmic reticulum membrane;Cytosol;Cytoplasm NA 0 PE1 NX_Q8WVN6 27039 248 7 17 Cell membrane;Secreted NA 1 PE1 NX_Q8WVN8 42818 375 4.87 15 Cytoplasm NA 0 PE1 NX_Q8WVP5 20827 186 9.57 19 Cytoplasm NA 0 PE1 NX_Q8WVP7 55098 490 5.68 7 Cytosol;Membrane Hypoplasia or aplasia of tibia with polydactyly;Laurin-Sandrow syndrome;Preaxial polydactyly 2;Syndactyly 4;Acheiropody 9 PE1 NX_Q8WVQ1 44840 401 5.72 17 Endoplasmic reticulum membrane;Golgi stack membrane;Cell membrane Desbuquois dysplasia 1;Epiphyseal dysplasia, multiple, 7 1 PE1 NX_Q8WVR3 62597 580 9.13 7 Cytoplasmic vesicle;Cytoplasm;Cell membrane;Microtubule organizing center NA 0 PE1 NX_Q8WVS4 122571 1066 6.88 7 Cilium;Microtubule organizing center Short-rib thoracic dysplasia 8 with or without polydactyly 0 PE1 NX_Q8WVT3 79375 735 4.81 2 Endoplasmic reticulum-Golgi intermediate compartment;Nucleus Encephalopathy, progressive, early-onset, with brain atrophy and spasticity 0 PE1 NX_Q8WVV4 68065 589 5.89 X Nucleoplasm;Tight junction;Golgi apparatus Premature ovarian failure 2B 0 PE1 NX_Q8WVV5 59070 523 5.73 6 Mitochondrion;Membrane NA 1 PE1 NX_Q8WVV9 60083 542 7.83 2 Cytosol;Mitochondrion;Nucleus NA 0 PE1 NX_Q8WVX3 7604 66 5.07 4 Endoplasmic reticulum;Membrane NA 1 PE1 NX_Q8WVX9 59357 515 9.25 11 Peroxisome membrane;Peroxisome Peroxisomal fatty acyl-CoA reductase 1 disorder 1 PE1 NX_Q8WVY7 36805 318 6.07 5 Nucleolus;Nucleus NA 0 PE1 NX_Q8WVZ1 34352 309 8.54 3 Membrane NA 4 PE1 NX_Q8WVZ7 42294 376 7.22 7 Endoplasmic reticulum membrane NA 1 PE1 NX_Q8WVZ9 77163 684 5.35 13 NA NA 0 PE1 NX_Q8WW01 18641 171 4.46 1 Nucleolus;Nucleus Pontocerebellar hypoplasia 2F 0 PE1 NX_Q8WW12 18925 178 6.86 3 Nucleus NA 0 PE1 NX_Q8WW14 26343 234 8.67 10 Mitochondrion NA 0 PE1 NX_Q8WW18 19346 174 5.26 17 Nucleoplasm NA 0 PE1 NX_Q8WW22 44798 397 7.52 15 Cytosol;Cell membrane;Membrane NA 0 PE1 NX_Q8WW24 50649 435 6.01 2 Cytoskeleton;Flagellum NA 0 PE1 NX_Q8WW27 41581 367 8.08 1 NA NA 0 PE2 NX_Q8WW32 22490 186 10.21 1 Nucleus;Chromosome NA 0 PE1 NX_Q8WW33 19266 167 6.04 12 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q8WW34 21842 195 8.5 20 Membrane NA 2 PE1 NX_Q8WW35 16122 142 4.82 3 Cytosol Short-rib thoracic dysplasia 17 with or without polydactyly 0 PE1 NX_Q8WW36 18005 166 9.33 X NA NA 0 PE1 NX_Q8WW38 128159 1151 6.03 8 Nucleoplasm;Nucleus Tetralogy of Fallot;Diaphragmatic hernia 3;Conotruncal heart malformations;46,XY sex reversal 9 0 PE1 NX_Q8WW43 28460 257 9.21 15 Endoplasmic reticulum;Membrane NA 7 PE1 NX_Q8WW52 64028 585 6.19 1 Nucleoplasm;Membrane NA 1 PE1 NX_Q8WW59 23129 207 6.44 12 Nucleoplasm NA 0 PE1 NX_Q8WW62 27631 240 8.38 16 Endoplasmic reticulum membrane NA 1 PE1 NX_Q8WWA0 34962 313 5.66 1 Cell membrane;Secreted NA 0 PE1 NX_Q8WWA1 25495 233 5.36 3 Cytosol;Membrane NA 2 PE1 NX_Q8WWB3 20893 177 4.64 10 NA NA 0 PE1 NX_Q8WWB5 35957 315 5.96 11 Nucleoplasm;Cytosol NA 0 PE1 NX_Q8WWB7 43864 406 6.1 1 Lysosome membrane NA 1 PE1 NX_Q8WWC4 32545 291 9.31 2 Mitochondrion matrix;Mitochondrion NA 0 PE1 NX_Q8WWF1 14923 131 4 1 Cell membrane;Secreted NA 0 PE2 NX_Q8WWF3 28167 244 7.64 7 Membrane NA 1 PE1 NX_Q8WWF5 46958 429 8.34 19 Endoplasmic reticulum membrane NA 1 PE1 NX_Q8WWF6 16559 145 4.85 2 NA NA 0 PE1 NX_Q8WWF8 24229 208 5.76 5 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q8WWG1 12722 115 6.12 15 Cell membrane;Secreted NA 1 PE1 NX_Q8WWG9 23806 221 4.68 2 Cytoskeleton;Nucleus;Membrane NA 1 PE1 NX_Q8WWH4 53458 475 5.6 7 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q8WWH5 37253 349 8.44 10 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Nucleus NA 0 PE1 NX_Q8WWI1 192696 1683 8.34 13 Cytosol;Cytoskeleton NA 0 PE1 NX_Q8WWI5 73302 657 8.93 9 Mitochondrion;Nucleoplasm;Cell membrane;Mitochondrion outer membrane NA 9 PE1 NX_Q8WWK9 76987 683 9.45 13 Cytosol;Cytoskeleton;Spindle;Spindle pole NA 0 PE1 NX_Q8WWL2 79671 714 7.75 16 Cytosol;Cell membrane;Cytoplasmic vesicle;Nucleus;Cytoskeleton;Cytoplasmic vesicle membrane NA 0 PE1 NX_Q8WWL7 157916 1395 6.28 X Nucleus speckle;Nucleus NA 0 PE1 NX_Q8WWM1 12077 108 4.81 X Nucleoplasm;Cytoplasmic vesicle NA 0 PE3 NX_Q8WWM7 113374 1075 8.7 16 Cytosol;Cytoplasm;Cytoplasmic granule;Nucleus speckle;Membrane NA 0 PE1 NX_Q8WWM9 21405 190 6.32 17 Cytoplasm;Nucleus speckle NA 0 PE1 NX_Q8WWN8 169844 1544 6.69 5 Cytoplasm;Cytoskeleton;Ruffle;Cell membrane;Lamellipodium NA 0 PE1 NX_Q8WWN9 48993 437 7.17 6 Cytoplasm;Cell membrane NA 0 PE1 NX_Q8WWP7 34369 306 9.11 7 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum;Golgi apparatus NA 1 PE1 NX_Q8WWQ0 206689 1821 9.02 6 Nucleoplasm;Nucleus Developmental delay, intellectual disability, obesity, and dysmorphic features 0 PE1 NX_Q8WWQ2 66596 592 9.95 10 Extracellular matrix Urofacial syndrome 1 0 PE1 NX_Q8WWQ8 276988 2551 6 12 Cytosol;Cytoplasm;Cell membrane NA 1 PE1 NX_Q8WWR8 51572 484 7.97 2 Lysosome lumen;Membrane NA 0 PE1 NX_Q8WWR9 9188 84 6.53 8 NA NA 0 PE2 NX_Q8WWT9 66841 602 8.58 20 Cell membrane NA 11 PE1 NX_Q8WWU5 56141 503 5.08 6 Flagellum;Acrosome;Membrane NA 1 PE1 NX_Q8WWU7 36212 325 8.61 1 Secreted NA 0 PE1 NX_Q8WWV3 43590 396 9.22 6 Mitochondrion outer membrane Optic atrophy 10 with or without ataxia, mental retardation, and seizures 0 PE1 NX_Q8WWV6 57144 532 9.37 1 Cell membrane NA 1 PE1 NX_Q8WWW0 47090 418 9.31 1 Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q8WWW8 65589 586 6.8 X NA NA 0 PE1 NX_Q8WWX0 36341 329 6.34 4 Cell membrane NA 0 PE2 NX_Q8WWX8 74036 675 6.33 16 Cytosol;Nucleus;Membrane NA 14 PE1 NX_Q8WWX9 16232 145 5.39 22 Golgi apparatus;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleoplasm;Perinuclear region;Nucleus NA 0 PE1 NX_Q8WWY3 55456 499 5.63 19 Cajal body;Nucleus;Nucleus speckle Retinitis pigmentosa 11 0 PE1 NX_Q8WWY6 21616 194 8.52 19 Nucleus NA 0 PE1 NX_Q8WWY7 12050 111 5.35 20 Secreted NA 0 PE1 NX_Q8WWY8 50859 451 7.15 3 Membrane;Secreted Hypotrichosis 7;Woolly hair autosomal recessive 2 0 PE1 NX_Q8WWZ1 16943 152 4.94 2 Secreted NA 0 PE1 NX_Q8WWZ3 24802 215 5.23 1 Cytosol;Cytoplasm;Nucleus Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant 0 PE1 NX_Q8WWZ4 175790 1543 6.22 17 Membrane NA 15 PE2 NX_Q8WWZ7 186508 1642 6.51 17 Nucleus;Late endosome membrane;Lysosome membrane;Golgi apparatus membrane NA 15 PE1 NX_Q8WWZ8 60022 545 5.34 10 Nucleus envelope NA 0 PE1 NX_Q8WX39 20285 176 5.72 9 Secreted NA 0 PE2 NX_Q8WX77 29005 278 8.29 9 Cytoplasmic vesicle;Nucleoplasm;Secreted NA 0 PE1 NX_Q8WX92 65697 580 5.77 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8WX93 150564 1383 6.67 4 Ruffle;Cytosol;Cell membrane;Axon;Focal adhesion;Lamellipodium;Cytoskeleton;Podosome;Growth cone;Z line Pancreatic cancer 1 0 PE1 NX_Q8WX94 111807 980 5.87 19 Golgi apparatus Hydatidiform mole, recurrent, 1 0 PE1 NX_Q8WXA2 14271 126 8.28 11 Secreted NA 0 PE1 NX_Q8WXA3 70010 606 5.61 10 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8WXA8 50220 447 5.59 3 Cell membrane NA 4 PE1 NX_Q8WXA9 59380 508 10.39 5 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_Q8WXB1 24600 218 5.84 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q8WXB4 91812 792 8.16 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q8WXC3 10107 89 6.3 16 Cytoplasm NA 0 PE1 NX_Q8WXC6 6211 57 3.6 2 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q8WXD0 86453 754 9.04 13 Cell membrane Cryptorchidism 7 PE1 NX_Q8WXD2 53005 468 4.94 15 Cytoplasmic vesicle;Secreted;Secretory vesicle membrane;Secretory vesicle lumen NA 0 PE1 NX_Q8WXD5 18824 167 5.02 2 Nucleoplasm;Cytoplasm;Nucleus;Gem NA 0 PE1 NX_Q8WXD9 149814 1431 9.21 16 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q8WXE0 126783 1202 6.63 17 Cytoplasm;Cell membrane NA 0 PE1 NX_Q8WXE1 85838 791 5.9 3 Nucleus NA 0 PE1 NX_Q8WXE9 101165 905 5.2 14 Cytosol;Cytoplasm;Nucleolus;Synaptosome;Membrane NA 0 PE1 NX_Q8WXF0 30512 261 11.69 6 Nucleus NA 0 PE1 NX_Q8WXF1 58744 523 6.26 13 Nucleus speckle;Nucleolus;Nucleoplasm;Cytoplasm;Nucleus;Nucleus matrix NA 0 PE1 NX_Q8WXF3 15451 142 5.41 19 Secreted NA 0 PE1 NX_Q8WXF5 20624 182 5.4 7 NA NA 0 PE2 NX_Q8WXF7 63544 558 5.82 14 Endoplasmic reticulum membrane;Axon;Golgi apparatus membrane Neuropathy, hereditary sensory, 1D;Spastic paraplegia 3, autosomal dominant 2 PE1 NX_Q8WXF8 36179 326 9.23 19 Nucleoplasm;Nucleolus NA 0 PE1 NX_Q8WXG1 42170 361 8.53 2 Endoplasmic reticulum membrane;Nucleolus;Golgi apparatus;Lipid droplet;Endoplasmic reticulum;Mitochondrion outer membrane;Mitochondrion inner membrane;Mitochondrion NA 0 PE1 NX_Q8WXG6 183303 1647 5.72 11 Cytosol;Cytoplasm;Cell membrane;Membrane NA 0 PE1 NX_Q8WXG8 11620 99 7.73 5 NA NA 0 PE1 NX_Q8WXG9 693069 6306 4.53 5 Photoreceptor inner segment;Lipid droplet;Cell membrane;Stereocilium membrane Febrile seizures, familial, 4;Usher syndrome 2C 7 PE1 NX_Q8WXH0 796442 6885 5.26 14 Nucleus membrane;Sarcoplasmic reticulum membrane;Nucleoplasm;Nucleus outer membrane;Cell membrane;Focal adhesion;Mitochondrion;Cytoskeleton;Z line Emery-Dreifuss muscular dystrophy 5, autosomal dominant 1 PE1 NX_Q8WXH2 81469 748 9.43 16 Nucleoplasm;Cytosol;Endoplasmic reticulum membrane;Cell membrane Huntington disease-like 2 1 PE1 NX_Q8WXH4 35367 323 8.39 X NA NA 0 PE1 NX_Q8WXH5 50623 440 6.63 14 Cytosol;Nucleus NA 0 PE1 NX_Q8WXH6 31076 277 9.45 X Cell membrane NA 0 PE2 NX_Q8WXI2 117535 1034 6.34 X Cytoplasm;Golgi apparatus;Cell membrane;Membrane Mental retardation, X-linked, syndromic, Houge type 0 PE1 NX_Q8WXI3 50894 467 6.55 7 Cytoplasm;Nucleus Glaucoma 1, open angle, F 0 PE1 NX_Q8WXI4 68492 607 8.66 1 Cytosol;Cytoplasm NA 0 PE1 NX_Q8WXI7 1519175 14507 5.13 19 Extracellular space;Cell membrane NA 1 PE1 NX_Q8WXI8 24704 215 8.28 12 Membrane NA 1 PE1 NX_Q8WXI9 65261 593 9.73 1 Nucleoplasm;Nucleus speckle Mental retardation, autosomal dominant 18 0 PE1 NX_Q8WXJ9 34282 295 9.05 1 NA NA 0 PE1 NX_Q8WXK1 65799 588 5.51 7 NA NA 0 PE2 NX_Q8WXK3 30007 278 6.36 10 Nucleus;Golgi apparatus NA 0 PE1 NX_Q8WXK4 33943 309 5.53 X NA NA 0 PE1 NX_Q8WXQ3 35482 324 5.84 14 NA NA 0 PE2 NX_Q8WXQ8 49036 436 6.24 7 Nucleus;Secreted NA 0 PE1 NX_Q8WXR4 151829 1341 8.4 2 Cytoskeleton;Stereocilium NA 0 PE1 NX_Q8WXS3 19224 180 5.47 8 Synaptosome;Cytosol;Cytoplasm;Nucleus;Postsynaptic density;Membrane raft NA 0 PE1 NX_Q8WXS4 20932 190 7.65 2 Cytosol;Nucleolus;Nucleus;Membrane NA 4 PE1 NX_Q8WXS5 43313 425 9.34 19 Postsynaptic density;Cell membrane NA 5 PE1 NX_Q8WXS8 133888 1223 6.81 10 Cytosol;Extracellular matrix NA 0 PE1 NX_Q8WXT5 45892 416 9.74 9 Nucleus NA 0 PE2 NX_Q8WXU2 48527 420 8.88 15 Cytosol;Cytoplasm;Nucleus;Cell membrane Dyslexia 1;Ciliary dyskinesia, primary, 25 0 PE1 NX_Q8WXW3 89805 757 5.78 13 Secreted;Cytoplasm;Microtubule organizing center;Centriolar satellite;Nucleus;Centrosome Joubert syndrome 33 0 PE1 NX_Q8WXX0 461159 4024 5.7 2 Cytosol;Cilium axoneme NA 0 PE1 NX_Q8WXX5 29910 260 5.58 10 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q8WXX7 138982 1259 9.41 7 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus;Growth cone Mental retardation, autosomal dominant 26 0 PE1 NX_Q8WY07 67169 619 5.82 X Cell membrane NA 14 PE1 NX_Q8WY21 129635 1168 7.38 10 Cytosol;Cell membrane;Membrane NA 1 PE1 NX_Q8WY22 27836 251 9.48 12 Nucleoplasm;Mitochondrion;Mitochondrion outer membrane NA 4 PE1 NX_Q8WY36 105130 941 8.96 3 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q8WY41 30230 292 8.29 10 Cytosol;Cytoplasm;Perinuclear region;Nucleoplasm Spermatogenic failure 12 0 PE1 NX_Q8WY50 16680 150 7.02 21 NA NA 0 PE2 NX_Q8WY54 83952 755 4.93 17 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q8WY64 49910 445 6.9 6 Cytoplasm;Cell membrane NA 0 PE1 NX_Q8WY91 62890 577 9.39 2 Nucleoplasm;Nucleus speckle NA 0 PE1 NX_Q8WY98 17601 164 8.76 1 Cytoplasmic vesicle;Membrane NA 3 PE1 NX_Q8WYA0 79746 676 8.9 12 Cytosol;Cilium;Centrosome Short-rib thoracic dysplasia 19 with or without polydactyly 0 PE1 NX_Q8WYA1 70887 636 7.01 12 Nucleolus;Nucleus NA 0 PE1 NX_Q8WYA6 65173 563 4.96 20 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q8WYB5 231378 2073 5.68 10 Nucleus Genitopatellar syndrome;Ohdo syndrome, SBBYS variant 0 PE1 NX_Q8WYH8 27751 240 7.53 2 Nucleus NA 0 PE1 NX_Q8WYJ6 41971 367 5.56 16 Cytoplasm;Cytoskeleton;Midbody;Centrosome NA 0 PE1 NX_Q8WYK0 62034 555 6.3 5 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q8WYK1 145623 1306 5.86 2 Cytoplasmic vesicle;Nucleolus;Nucleus;Membrane NA 1 PE1 NX_Q8WYK2 18704 163 9.3 14 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_Q8WYL5 115511 1049 5.87 12 Cleavage furrow;Nucleoplasm;Cell membrane;Cytosol;Lamellipodium;Cytoskeleton;Midbody NA 0 PE1 NX_Q8WYN0 45378 398 4.93 X Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q8WYN3 64900 585 4.68 2 Nucleolus;Nucleus NA 0 PE2 NX_Q8WYP3 100163 895 6.15 20 Cytosol;Cytoplasm;Nucleolus;Golgi apparatus MACS syndrome 0 PE1 NX_Q8WYP5 252498 2266 6.19 1 Kinetochore;Nucleus membrane;Nucleoplasm;Cytoplasm;Nuclear pore complex;Nucleus envelope;Nucleus matrix;Nucleus NA 0 PE1 NX_Q8WYQ3 14149 142 7.73 22 Mitochondrion;Cytoplasm;Mitochondrion intermembrane space Myopathy, isolated mitochondrial, autosomal dominant;Spinal muscular atrophy, Jokela type;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 0 PE1 NX_Q8WYQ4 16487 148 9.03 22 NA NA 0 PE1 NX_Q8WYQ5 86045 773 5.68 22 Nucleolus;Nucleus NA 0 PE1 NX_Q8WYQ9 100042 949 8.47 16 Nucleus membrane NA 0 PE1 NX_Q8WYR1 97348 880 6.3 17 Cytosol;Cytoplasm;Nucleus;Cell membrane;Microtubule organizing center Ataxia-oculomotor apraxia 3 0 PE1 NX_Q8WYR4 35124 309 4.58 21 Nucleoplasm;Cytoplasm;Cilium Ciliary dyskinesia, primary, 24 0 PE1 NX_Q8WZ04 32155 291 9.3 11 Cytoplasm;Endoplasmic reticulum;Membrane Deafness, autosomal recessive, 63 1 PE1 NX_Q8WZ19 36357 329 6.77 16 Nucleus NA 0 PE1 NX_Q8WZ26 14832 134 8.26 19 NA NA 0 PE2 NX_Q8WZ33 13947 124 7.7 4 Cytoplasm;Nucleolus NA 0 PE1 NX_Q8WZ42 3816030 34350 6.02 2 Cytoplasm;Nucleus Limb-girdle muscular dystrophy 2J;Salih myopathy;Cardiomyopathy, familial hypertrophic 9;Tardive tibial muscular dystrophy;Hereditary myopathy with early respiratory failure;Cardiomyopathy, dilated 1G 0 PE1 NX_Q8WZ55 35197 320 4.24 1 Cytoplasm;Cell membrane Bartter syndrome 4A, neonatal, with sensorineural deafness 2 PE1 NX_Q8WZ59 19457 177 5.15 19 Membrane NA 1 PE1 NX_Q8WZ60 70359 621 5.89 3 NA NA 0 PE1 NX_Q8WZ64 193452 1704 7.11 4 Cytoplasm;Cytoskeleton;Focal adhesion NA 0 PE1 NX_Q8WZ69 24620 217 7.61 11 NA NA 0 PE2 NX_Q8WZ71 30404 300 8.74 3 Membrane NA 2 PE1 NX_Q8WZ73 40514 363 5.33 17 Cytosol;Cytoplasmic vesicle;Recycling endosome membrane;Cell membrane NA 0 PE1 NX_Q8WZ74 181051 1663 8.23 7 Cytosol;Midbody ring;Cell cortex;Dendritic spine NA 0 PE1 NX_Q8WZ75 107457 1007 6.18 11 Cell membrane NA 0 PE1 NX_Q8WZ79 41713 361 9.4 1 Lysosome NA 0 PE2 NX_Q8WZ82 24418 227 6.44 17 Nucleoplasm;Cytosol NA 0 PE1 NX_Q8WZ84 34445 308 8.7 11 Cell membrane NA 7 PE2 NX_Q8WZ92 35786 322 8.01 11 Cell membrane NA 7 PE2 NX_Q8WZ94 34296 311 8.67 11 Cell membrane NA 7 PE2 NX_Q8WZA0 21495 190 4.88 1 Cytosol;Nucleoplasm NA 0 PE1 NX_Q8WZA1 75252 660 6.37 1 Golgi apparatus membrane Muscular dystrophy-dystroglycanopathy limb-girdle C3;Retinitis pigmentosa 76;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 1 PE1 NX_Q8WZA2 115522 1011 6.37 2 Cytoplasm;Focal adhesion;Membrane NA 0 PE1 NX_Q8WZA6 38518 343 8.85 17 Cell membrane NA 7 PE3 NX_Q8WZA8 3819 35 7.96 11 NA NA 0 PE5 NX_Q8WZA9 62717 623 4.81 19 Cytoplasmic vesicle NA 0 PE1 NX_Q8WZB0 14715 136 11.93 9 NA NA 0 PE5 NX_Q902F8 79168 699 9.26 8 Virion;Cell membrane NA 1 PE1 NX_Q902F9 79195 699 9.06 19 Virion;Cell membrane NA 1 PE1 NX_Q92185 40519 356 9.41 12 Golgi apparatus membrane NA 1 PE1 NX_Q92186 42430 375 9.48 15 Golgi apparatus membrane;Microtubule organizing center NA 1 PE2 NX_Q92187 41295 359 9.77 5 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q92466 47864 427 9.56 11 Nucleoplasm;Nucleus;Cell junction Xeroderma pigmentosum complementation group E 0 PE1 NX_Q92478 17307 149 9.02 12 Membrane NA 1 PE1 NX_Q92481 50474 460 8.41 6 Nucleoplasm;Nucleus Char syndrome;Patent ductus arteriosus 2 0 PE1 NX_Q92482 31544 292 6.74 9 Basolateral cell membrane;Nucleus;Cell membrane NA 6 PE1 NX_Q92484 51260 453 5.88 6 Mitochondrion;Nucleolus;Nucleus;Secreted NA 0 PE1 NX_Q92485 50814 455 5.36 1 Cytosol;Golgi apparatus;Cell membrane;Secreted NA 0 PE1 NX_Q92496 65351 578 4.85 1 Secreted NA 0 PE1 NX_Q92499 82432 740 6.8 2 Nucleoplasm;Cytosol;Cytoplasm;Cytoplasmic granule;Nucleus;Mitochondrion NA 0 PE1 NX_Q92502 112601 1023 5.87 X Focal adhesion NA 0 PE1 NX_Q92503 81250 715 6.01 17 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleoplasm NA 0 PE1 NX_Q92504 50118 469 6.36 6 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum NA 6 PE1 NX_Q92506 26974 261 6.09 6 Mitochondrion matrix NA 0 PE1 NX_Q92508 286790 2521 7.37 16 Endoplasmic reticulum membrane;Lamellipodium membrane;Cell membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane Lymphedema, hereditary, 3;Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 36 PE1 NX_Q92519 38801 343 5.77 2 Cytosol;Cytoplasm;Cytoskeleton;Nucleoplasm NA 0 PE1 NX_Q92520 24680 227 8.52 7 Cytoplasmic vesicle;Golgi apparatus;Secreted NA 0 PE1 NX_Q92521 65056 554 9.39 15 Endoplasmic reticulum membrane;Cytosol;Cell membrane NA 9 PE1 NX_Q92522 22487 213 10.76 3 Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_Q92523 87801 772 8.86 22 Mitochondrion outer membrane NA 2 PE1 NX_Q92526 57821 530 6.85 17 Cytoplasm NA 0 PE1 NX_Q92527 29029 254 9.09 7 Nucleus NA 0 PE1 NX_Q92529 64056 594 8.57 9 Cytosol;Nucleoplasm NA 0 PE1 NX_Q92530 29817 271 5.42 20 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_Q92535 33583 297 8.66 1 Endoplasmic reticulum membrane Glycosylphosphatidylinositol biosynthesis defect 16 8 PE1 NX_Q92536 56828 515 5.63 16 Cytoplasmic vesicle;Basolateral cell membrane;Cell membrane NA 12 PE1 NX_Q92537 32090 303 5.01 14 Nucleoplasm;Cytoskeleton;Membrane NA 1 PE1 NX_Q92538 206446 1859 5.48 10 Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus;Cytoplasm;Lipid droplet;cis-Golgi network;trans-Golgi network;Membrane NA 0 PE1 NX_Q92539 99399 896 5.18 18 Cytosol;Endoplasmic reticulum membrane;Cytoskeleton;Nucleus;Cell membrane Majeed syndrome 0 PE1 NX_Q92540 127282 1137 8.87 1 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q92541 80313 710 8.21 15 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q92542 78411 709 5.67 1 Cytosol;Cytoplasmic vesicle membrane;Melanosome;Membrane Acne inversa, familial, 1 1 PE1 NX_Q92543 108598 992 4.97 11 Mitochondrion;Cytoplasmic vesicle membrane;Early endosome membrane NA 0 PE1 NX_Q92544 74519 642 6.11 20 Mitochondrion;Membrane;Golgi apparatus;Early endosome NA 9 PE1 NX_Q92545 205138 1883 8.74 2 Cytoplasmic vesicle;Cytoskeleton;Membrane NA 2 PE1 NX_Q92546 42455 391 5.65 9 Cytosol;Cell membrane;Membrane NA 0 PE1 NX_Q92547 170679 1522 6.52 3 Nucleus;Centrosome;Chromosome;Spindle pole NA 0 PE1 NX_Q92551 50236 441 6.81 3 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q92552 47611 414 5.83 5 Mitochondrion;Cytoplasm NA 0 PE1 NX_Q92556 83829 727 5.89 7 Cytoplasm;Cell membrane NA 0 PE1 NX_Q92558 61652 559 6.01 6 Cytoskeleton;Synapse;Focal adhesion NA 0 PE1 NX_Q92560 80362 729 6.38 3 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Tumor predisposition syndrome;Mesothelioma, malignant 0 PE1 NX_Q92561 37573 330 6.53 8 Mitochondrion NA 0 PE1 NX_Q92562 103635 907 6.46 6 Cytoplasmic vesicle;Endosome membrane;Lipid droplet Charcot-Marie-Tooth disease 4J;Amyotrophic lateral sclerosis 11;Yunis-Varon syndrome;Polymicrogyria, bilateral temporooccipital 0 PE1 NX_Q92563 46779 424 4.71 10 Nucleus speckle;Extracellular matrix NA 0 PE1 NX_Q92564 34068 292 5.58 4 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q92565 67733 580 5.89 7 Nucleoplasm;Nucleus NA 0 PE1 NX_Q92567 26184 244 9.01 11 Nucleoplasm NA 0 PE1 NX_Q92569 54448 461 5.68 1 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 NX_Q92570 68230 626 8 9 Nucleus Ewing sarcoma 0 PE1 NX_Q92572 21732 193 5.23 5 Cytoplasmic vesicle membrane;Golgi apparatus NA 0 PE1 NX_Q92574 129767 1164 6.02 9 Cytosol;Cytoplasm;Membrane Focal cortical dysplasia 2;Tuberous sclerosis 1;Lymphangioleiomyomatosis 0 PE1 NX_Q92575 56778 508 6.1 2 Endoplasmic reticulum membrane;Nucleus envelope;Endoplasmic reticulum NA 0 PE1 NX_Q92576 229481 2039 6.52 6 Nucleoplasm NA 0 PE1 NX_Q92581 74162 669 6.03 X Endosome membrane;Cytoplasmic vesicle Mental retardation, X-linked, syndromic, Christianson type 13 PE1 NX_Q92583 10507 94 9.59 16 Secreted NA 0 PE1 NX_Q92585 108054 1016 8.45 5 Nucleoplasm;Nucleus speckle NA 0 PE1 NX_Q92597 42835 394 5.49 8 Cytosol;Cytoskeleton;Nucleus;Centrosome;Cell membrane Charcot-Marie-Tooth disease 4D 0 PE1 NX_Q92598 96865 858 5.28 13 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q92599 55756 483 5.89 5 Axon;Cytoplasm;Cytoskeleton;Synaptic vesicle membrane;Synapse NA 0 PE1 NX_Q92600 33631 299 8.18 2 P-body;Nucleus NA 0 PE1 NX_Q92604 43089 370 9.02 1 Endoplasmic reticulum membrane NA 2 PE1 NX_Q92608 211948 1830 6.43 5 Cytoskeleton;Endomembrane system Immunodeficiency 40 0 PE1 NX_Q92609 89004 795 6.1 3 Endosome membrane;Cytoplasmic vesicle;Autophagosome;Golgi apparatus NA 0 PE1 NX_Q92610 137528 1267 8.1 15 Nucleoplasm;Nucleus NA 0 PE1 NX_Q92611 73768 657 6.45 3 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 NX_Q92613 93808 823 6.79 X Nucleolus;Nucleus NA 0 PE1 NX_Q92614 233115 2054 5.95 17 Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus;Cytoplasm;trans-Golgi network;Cell surface;Cytoskeleton NA 0 PE1 NX_Q92615 80552 738 6.48 10 Cytosol NA 0 PE1 NX_Q92616 292758 2671 7.29 12 Cytosol;Cytoplasm NA 0 PE1 NX_Q92617 116847 1050 10.04 16 Membrane NA 1 PE2 NX_Q92618 124289 1163 9.02 18 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q92619 124614 1136 5.76 19 Cytoplasm;Ruffle membrane NA 0 PE1 NX_Q92620 140503 1227 6.11 16 Nucleus NA 0 PE1 NX_Q92621 227922 2012 5.81 7 Nuclear pore complex;Nucleus membrane Nephrotic syndrome 13 0 PE1 NX_Q92622 108622 972 5.86 3 Cytoplasmic vesicle;Cytosol;Late endosome;Lysosome;Early endosome Spinocerebellar ataxia, autosomal recessive, 15 0 PE1 NX_Q92623 24379 222 9.13 14 NA NA 0 PE1 NX_Q92624 66853 585 6.44 17 Cytoskeleton;Nucleus;Membrane NA 0 PE1 NX_Q92625 123108 1134 5.93 6 Cytosol;Nucleoplasm;Cell projection;Cytoplasm NA 0 PE1 NX_Q92626 165275 1479 6.79 2 Extracellular matrix Anterior segment dysgenesis 7 0 PE1 NX_Q92628 154789 1395 4.71 4 Cytosol NA 0 PE1 NX_Q92629 32071 289 9.24 5 Cytoskeleton;Sarcolemma Limb-girdle muscular dystrophy 2F;Cardiomyopathy, dilated 1L 1 PE1 NX_Q92630 66652 601 9.7 12 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q92633 41109 364 8.87 9 Nucleus speckle;Endosome;Cell membrane;Cell surface NA 7 PE1 NX_Q92636 104372 917 5.8 8 Nucleolus NA 0 PE1 NX_Q92637 32232 280 8.87 1 Cell membrane NA 1 PE1 NX_Q92643 45252 395 5.76 1 Endoplasmic reticulum membrane NA 1 PE1 NX_Q92664 41515 365 9.34 13 Nucleus NA 0 PE1 NX_Q92665 45318 395 9.32 13 Mitochondrion;Nucleolus NA 0 PE1 NX_Q92667 97342 903 4.84 17 Mitochondrion;Mitochondrion outer membrane NA 0 PE1 NX_Q92670 49753 426 9.07 11 Nucleus NA 0 PE5 NX_Q92673 248426 2214 5.32 11 Endosome;Golgi apparatus;Secreted;Nucleoplasm;Membrane;Cell junction Alzheimer disease 1 PE1 NX_Q92674 86720 756 8.98 X Cytosol;Nucleus;Centromere NA 0 PE1 NX_Q92681 66790 617 4.78 1 Nucleoplasm;Nucleus;trans-Golgi network;Cell membrane;Cell junction NA 0 PE1 NX_Q92685 50126 438 9.56 3 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1D 11 PE1 NX_Q92686 7618 78 7.72 11 NA NA 0 PE1 NX_Q92688 28788 251 3.94 9 Cytoplasm;Nucleus NA 0 PE1 NX_Q92692 57742 538 4.74 19 Nucleolus;Cell junction;Cell membrane NA 1 PE1 NX_Q92696 65072 567 5.45 14 Nucleoplasm NA 0 PE1 NX_Q92698 84352 747 8.85 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q92729 162423 1446 6.46 1 Cell junction;Cell membrane NA 1 PE1 NX_Q92730 26056 232 8.24 12 Cytoplasmic vesicle;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q92731 59216 530 8.81 14 Nucleus NA 0 PE1 NX_Q92733 52418 491 5.02 1 Nucleus speckle;Nucleus NA 0 PE1 NX_Q92734 43448 400 4.94 3 Cytosol;Cytoplasmic vesicle;Endoplasmic reticulum Spastic paraplegia 57, autosomal recessive;Neuropathy, hereditary motor and sensory, Okinawa type 0 PE1 NX_Q92736 564567 4967 5.73 1 Sarcoplasmic reticulum membrane;Cytosol;Cell membrane;Nucleoplasm;Sarcoplasmic reticulum;Membrane Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy;Arrhythmogenic right ventricular dysplasia, familial, 2 6 PE1 NX_Q92737 22541 203 9.79 22 Nucleolus;Cell membrane NA 0 PE1 NX_Q92738 94104 828 9.1 10 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_Q92743 51287 480 8.09 10 Cytosol;Cell membrane;Secreted Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2;Macular degeneration, age-related, 7;Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 0 PE1 NX_Q92747 41569 370 8.46 7 Cytosol;Cytoskeleton;Nucleus;Cell junction;Cell membrane NA 0 PE1 NX_Q92748 16561 146 4.79 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q92750 91091 862 9.59 18 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Spermatogenic failure 13 0 PE1 NX_Q92752 149562 1358 4.71 1 Extracellular matrix NA 0 PE1 NX_Q92753 53220 470 7.78 9 Nucleus NA 0 PE1 NX_Q92754 49177 450 7.72 20 Nucleoplasm;Nucleus NA 0 PE1 NX_Q92759 52186 462 9.12 6 Nucleus speckle;Nucleus NA 0 PE1 NX_Q92764 50361 455 4.85 17 NA NA 0 PE1 NX_Q92765 36254 325 8.82 2 Secreted Osteoarthritis 1 0 PE1 NX_Q92766 181420 1687 6.54 6 Nucleus speckle;Nucleolus NA 0 PE1 NX_Q92769 55364 488 5.59 6 Cytoplasm;Nucleus NA 0 PE1 NX_Q92771 106006 950 8.57 12 Nucleus NA 0 PE5 NX_Q92772 56019 493 8.45 4 Cytoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q92777 62996 582 8.58 3 Nucleoplasm;Synapse Schizophrenia 0 PE1 NX_Q92781 34979 318 9.47 12 Cytoplasmic vesicle;Endoplasmic reticulum lumen;Membrane Fundus albipunctatus 0 PE1 NX_Q92782 42502 380 6.47 19 Cytosol;Mitochondrion;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q92783 59180 540 4.7 10 Cytoplasmic vesicle;Cytoplasm;Early endosome membrane NA 0 PE1 NX_Q92784 43084 378 6.01 14 Nucleoplasm;Nucleus NA 0 PE1 NX_Q92785 44155 391 5.94 11 Nucleoplasm;Cytoplasm;Nucleus Coffin-Siris syndrome 7 0 PE1 NX_Q92786 83203 737 6.74 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q92791 50381 437 4.68 17 Endoplasmic reticulum NA 0 PE1 NX_Q92793 265351 2442 8.83 16 Nucleoplasm;Cytoplasm;Nucleus Rubinstein-Taybi syndrome 1 0 PE1 NX_Q92794 225028 2004 5.5 8 PML body;Nucleolus;Nucleus speckle;Nucleoplasm;Cytosol;Nucleus Mental retardation, autosomal dominant 32 0 PE1 NX_Q92796 90314 817 6.56 X Nucleolus;Nucleus Mental retardation, X-linked 90 0 PE1 NX_Q92797 141148 1274 5.82 19 Cytosol;Cell membrane;Nucleoplasm;Cytoskeleton;Cell junction;Tight junction NA 0 PE1 NX_Q92800 85271 747 8.01 17 Nucleoplasm;Nucleus NA 0 PE1 NX_Q92802 67459 583 5.96 13 Nucleoplasm NA 0 PE1 NX_Q92804 61830 592 8.04 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q92805 88184 767 5.24 9 Golgi apparatus membrane;trans-Golgi network membrane;Acrosome;Golgi apparatus NA 0 PE1 NX_Q92806 44020 393 4.86 1 Membrane NA 2 PE1 NX_Q92813 30552 273 8.18 14 Cytosol;Nucleoplasm;Membrane NA 1 PE1 NX_Q92817 231604 2033 6.56 17 Cytosol;Desmosome;Cytoskeleton;Cornified envelope NA 0 PE1 NX_Q92819 63566 552 8.85 8 Nucleus speckle;Membrane NA 7 PE1 NX_Q92820 35964 318 6.66 8 Extracellular space;Melanosome;Lysosome NA 0 PE1 NX_Q92823 143890 1304 5.45 7 Axon;Cell membrane;Secreted NA 1 PE1 NX_Q92824 206942 1860 5.71 9 Endomembrane system;Golgi apparatus;Secreted NA 1 PE1 NX_Q92826 30676 284 9.15 17 Nucleoplasm;Nucleus Prostate cancer 0 PE1 NX_Q92828 59763 525 8.24 9 Cytosol;Cell membrane NA 0 PE1 NX_Q92830 93926 837 9.18 17 Nucleus;Centrosome;Chromosome NA 0 PE1 NX_Q92831 93013 832 9.16 3 Nucleus;Centrosome NA 0 PE1 NX_Q92832 89635 810 5.66 11 Cytoplasm;Nucleus envelope;Secreted NA 0 PE1 NX_Q92833 138734 1246 9.46 6 Mitochondrion;Nucleus NA 0 PE1 NX_Q92834 113387 1020 4.79 X Cilium axoneme;Flagellum axoneme;Centrosome;Golgi apparatus;Cilium basal body Retinitis pigmentosa and sinorespiratory infections with or without deafness;Retinitis pigmentosa 3;Cone-rod dystrophy, X-linked 1;Macular degeneration, X-linked, atrophic 0 PE1 NX_Q92835 133292 1189 7.38 2 Cytosol;Cytoplasm;Cell membrane;Membrane;Cytoskeleton;Membrane raft NA 0 PE1 NX_Q92837 29093 279 7.65 10 Cytoplasmic vesicle;Cytoplasm;Cytosol NA 0 PE1 NX_Q92838 41294 391 8.54 X Cytoplasmic vesicle;Lipid droplet;Cell membrane;Secreted Tooth agenesis, selective, X-linked, 1;Ectodermal dysplasia 1, hypohidrotic, X-linked 1 PE1 NX_Q92839 64832 578 9.35 19 Nucleoplasm;Cell membrane;Membrane NA 7 PE1 NX_Q92841 80272 729 8.53 22 Cytosol;Nucleus speckle;Nucleolus;Nucleus NA 0 PE1 NX_Q92843 20746 193 5.21 14 Mitochondrion membrane NA 0 PE1 NX_Q92844 47816 425 5.46 2 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 NX_Q92845 91205 792 4.96 1 NA NA 0 PE1 NX_Q92847 41329 366 8.65 3 Cell membrane Growth hormone deficiency, isolated partial 7 PE1 NX_Q92851 58951 521 6.95 2 Cytoplasmic vesicle;Golgi apparatus Gastric cancer;Familial non-Hodgkin lymphoma;Autoimmune lymphoproliferative syndrome 2A 0 PE1 NX_Q92854 96150 862 8.25 9 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane NA 1 PE1 NX_Q92858 38160 354 8.26 4 Nucleus NA 0 PE2 NX_Q92859 160017 1461 6.08 15 Nucleoplasm;Cell membrane;Golgi apparatus NA 1 PE1 NX_Q92870 83374 758 5.74 4 Mitochondrion NA 0 PE1 NX_Q92871 29747 262 5.53 22 Cytoplasm NA 0 PE1 NX_Q92874 32853 299 4.8 16 Mitochondrion;Cytoplasm;Endoplasmic reticulum;Secreted NA 0 PE1 NX_Q92876 26856 244 7.15 19 Nucleolus;Nucleus membrane;Secreted;Nucleoplasm;Cytoplasm;Microsome;Mitochondrion;Cytoskeleton NA 0 PE1 NX_Q92878 153892 1312 6.47 5 Nucleoplasm;Nucleus;Chromosome;Telomere Nijmegen breakage syndrome-like disorder 0 PE1 NX_Q92879 52063 486 8.7 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q92882 23787 214 5.46 9 Cytosol;Cytoplasm NA 0 PE1 NX_Q92886 25718 237 6.9 5 Nucleus NA 0 PE1 NX_Q92887 174207 1545 8.57 10 Apical cell membrane Dubin-Johnson syndrome 17 PE1 NX_Q92888 102435 912 5.47 19 Cytosol;Cytoplasm;Cell membrane;Membrane NA 0 PE1 NX_Q92889 104486 916 6.5 16 Nucleoplasm;Nucleus Fanconi anemia complementation group Q;XFE progeroid syndrome;Xeroderma pigmentosum complementation group F;Xeroderma pigmentosum type F/Cockayne syndrome 0 PE1 NX_Q92890 34500 307 6.27 22 Cytosol;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q92896 134552 1179 6.52 16 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q92900 124345 1129 6.18 19 Nucleoplasm;Cytoplasm;P-body;Nucleus NA 0 PE1 NX_Q92901 46296 407 10.45 16 Nucleus speckle NA 0 PE1 NX_Q92902 79292 700 5.62 10 NA Hermansky-Pudlak syndrome 1 0 PE1 NX_Q92903 53304 461 8.29 4 Endoplasmic reticulum membrane;Nucleus;Nucleus membrane NA 6 PE1 NX_Q92904 33178 295 8.92 3 Cytoplasm;Nucleus NA 0 PE1 NX_Q92905 37579 334 6.1 8 Nucleoplasm;Cytosol;Perinuclear region;Nucleus;Synaptic vesicle NA 0 PE1 NX_Q92908 60033 595 8.68 18 Nucleus Conotruncal heart malformations;Tetralogy of Fallot;Atrial septal defect 9;Pancreatic agenesis and congenital heart defects;Atrioventricular septal defect 5 0 PE1 NX_Q92911 68666 643 7.37 19 Membrane Thyroid dyshormonogenesis 1 13 PE1 NX_Q92913 27564 245 9.92 X Nucleolus;Cytosol;Cytoplasm;Dendrite;Nucleus;Filopodium;Growth cone NA 0 PE1 NX_Q92914 25005 225 9.92 17 Centrosome NA 0 PE2 NX_Q92915 27702 247 10.11 13 Nucleolus;Nucleus Spinocerebellar ataxia 27 0 PE1 NX_Q92917 52229 476 5.85 X Nucleoplasm;Nucleus NA 0 PE1 NX_Q92918 91296 833 8.65 19 Nucleoplasm;Cell membrane NA 0 PE1 NX_Q92922 122867 1105 5.51 3 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q92925 58921 531 9.66 17 Nucleoplasm;Nucleus Specific granule deficiency 2 0 PE1 NX_Q92928 22017 201 5.25 9 Cytoplasm;Membrane NA 0 PE5 NX_Q92930 23584 207 9.15 15 Nucleoplasm;Cytoplasmic vesicle;Phagosome membrane;Phagosome;Cell membrane NA 0 PE1 NX_Q92932 111271 1015 5.55 7 Cytoplasmic vesicle;Synaptic vesicle membrane;Secretory vesicle membrane NA 1 PE1 NX_Q92934 18392 168 6.6 11 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA 0 PE1 NX_Q92935 74697 676 8.51 1 Endoplasmic reticulum membrane NA 1 PE1 NX_Q92945 73115 711 6.85 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q92947 48127 438 8.31 19 Mitochondrion;Mitochondrion matrix Glutaric aciduria 1 0 PE1 NX_Q92949 45247 421 5.04 17 Nucleus Allergic rhinitis 0 PE1 NX_Q92952 59987 543 9.04 19 Cytosol;Cytoskeleton;Membrane NA 6 PE2 NX_Q92953 102563 911 5.81 8 Dendrite;Nucleolus;Perikaryon;Midbody;Cell membrane NA 6 PE1 NX_Q92954 151061 1404 9.54 1 Secreted Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 0 PE1 NX_Q92956 30392 283 6.93 1 Cytosol;Cytoplasm;Membrane NA 1 PE1 NX_Q92959 70044 643 9.13 3 Cell membrane Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 12 PE1 NX_Q92963 25145 219 9.2 1 Cell membrane Noonan syndrome 8 0 PE1 NX_Q92966 46753 411 5.12 9 Nucleolus;Nucleus NA 0 PE1 NX_Q92968 44130 403 7.77 2 Cytoplasmic vesicle;Peroxisome membrane Peroxisome biogenesis disorder 11A;Peroxisome biogenesis disorder complementation group 13;Peroxisome biogenesis disorder 11B 1 PE1 NX_Q92973 102355 898 4.83 5 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q92974 111543 986 6.89 1 Golgi apparatus;Cytoplasm;Cytoplasmic vesicle;Ruffle membrane;Cytoskeleton;Spindle;Tight junction Neurodevelopmental disorder with midbrain and hindbrain malformations 0 PE1 NX_Q92979 26720 244 9.28 12 Nucleolus;Nucleus Bowen-Conradi syndrome 0 PE1 NX_Q92982 16345 152 5.83 9 Membrane NA 2 PE1 NX_Q92985 54278 503 5.89 11 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Immunodeficiency 39 0 PE1 NX_Q92988 26263 240 9.25 17 Nucleoplasm;Nucleus Non-syndromic orofacial cleft 15 0 PE1 NX_Q92989 47646 425 6.2 11 Nucleoplasm;Nucleus Pontocerebellar hypoplasia 10 0 PE1 NX_Q92990 68208 594 5.24 1 Nucleoplasm;Cytosol Glomuvenous malformations 0 PE1 NX_Q92993 58582 513 8.75 11 Nucleoplasm;Perinuclear region;Nucleolus;Nucleus NA 0 PE1 NX_Q92994 73840 677 5.29 14 Nucleoplasm;Nucleus Cerebellofaciodental syndrome 0 PE1 NX_Q92995 97327 863 5.33 3 Cytosol;Nucleoplasm NA 0 PE1 NX_Q92997 78055 716 6.18 3 Cytoplasm;Cytoskeleton;Midbody ring;Centrosome Robinow syndrome, autosomal dominant 3 0 PE1 NX_Q93008 292280 2570 5.52 X Cytoplasmic vesicle;Cytoplasm;Growth cone Mental retardation, X-linked 99 0 PE1 NX_Q93009 128302 1102 5.33 16 PML body;Nucleus;Chromosome;Cytoplasm NA 0 PE1 NX_Q93015 31445 286 7.75 3 Cytosol NA 0 PE1 NX_Q93033 115109 1021 6.51 1 Mitochondrion;Membrane NA 1 PE1 NX_Q93034 90955 780 8.08 11 Cytosol;Golgi apparatus NA 0 PE1 NX_Q93038 45385 417 6.01 1 Cytoskeleton;Nucleus;Focal adhesion;Cell membrane;Secreted NA 1 PE1 NX_Q93045 20828 179 8.4 8 Cytoplasmic vesicle;Endosome;Golgi apparatus;Cytoplasm;Endoplasmic reticulum;Axon;Perinuclear region;Membrane;Lamellipodium;Growth cone NA 0 PE1 NX_Q93050 96413 837 6.02 17 Nucleus speckle;Melanosome;Golgi apparatus;Cytosol;Cell membrane;Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA 8 PE1 NX_Q93052 65746 612 7.18 3 Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Nucleus;Cell junction NA 0 PE1 NX_Q93062 21802 196 7.77 8 Nucleoplasm;Cytoplasm;P-body;Nucleus;Cytosol NA 0 PE1 NX_Q93063 82255 718 6.12 11 Endoplasmic reticulum membrane;Golgi apparatus membrane;Golgi apparatus Potocki-Shaffer syndrome;Seizures, scoliosis, and macrocephaly syndrome;Hereditary multiple exostoses 2 1 PE1 NX_Q93070 35878 314 9.31 12 Cytoplasm;Cell membrane NA 0 PE1 NX_Q93073 121776 1101 5.76 15 Nucleoplasm NA 0 PE1 NX_Q93074 243081 2177 6.63 X Nucleoplasm;Nucleus Lujan-Fryns syndrome;Opitz-Kaveggia syndrome;Ohdo syndrome, X-linked 0 PE1 NX_Q93075 85023 761 7.07 3 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 NX_Q93077 14105 130 11.05 6 Nucleus;Chromosome NA 0 PE1 NX_Q93079 13892 126 10.31 6 Nucleus;Chromosome NA 0 PE1 NX_Q93083 6062 61 8.38 16 NA NA 0 PE1 NX_Q93084 113977 1043 5.42 17 Endoplasmic reticulum membrane;Nucleus membrane;Sarcoplasmic reticulum membrane NA 10 PE1 NX_Q93086 47205 422 7.46 17 Cytosol;Membrane NA 2 PE1 NX_Q93088 44998 406 6.58 5 Cytosol;Cytoplasm NA 0 PE1 NX_Q93091 17196 150 9.09 14 Cytoplasmic granule;Lysosome;Secreted NA 0 PE1 NX_Q93096 19815 173 9.17 6 Cytoplasm;Spindle;Cell membrane;Endoplasmic reticulum;Early endosome NA 0 PE1 NX_Q93097 43770 391 9.32 1 Nucleoplasm;Cytoplasmic vesicle;Secreted;Extracellular matrix NA 0 PE1 NX_Q93098 38721 351 8.93 10 Extracellular matrix NA 0 PE2 NX_Q93099 49964 445 6.5 3 Golgi apparatus Alkaptonuria 0 PE1 NX_Q93100 124884 1093 6.5 16 Cell membrane;Golgi apparatus Glycogen storage disease 9B 0 PE1 NX_Q95365 40416 362 5.89 6 Membrane NA 1 PE1 NX_Q95460 39366 341 5.87 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Cell membrane;Secreted NA 1 PE1 NX_Q95604 41238 372 6.33 6 Membrane NA 1 PE1 NX_Q95IE3 29878 266 7.69 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 NX_Q969D9 18141 159 9.75 5 Secreted NA 0 PE1 NX_Q969E1 8814 77 10.31 5 Secreted NA 0 PE1 NX_Q969E2 25728 229 9.07 19 Cytoplasmic vesicle;Lipid droplet;Cell membrane;Golgi apparatus;Membrane NA 4 PE1 NX_Q969E3 17961 161 10.41 10 Secreted NA 0 PE1 NX_Q969E4 22502 200 4.85 X Nucleus NA 0 PE1 NX_Q969E8 20894 191 4.25 X Cytosol;Nucleolus;Nucleus;Cell junction Diamond-Blackfan anemia 14, with mandibulofacial dysostosis 0 PE1 NX_Q969F0 20712 183 9.51 X Mitochondrion;Endoplasmic reticulum membrane;Endoplasmic reticulum;Mitochondrion outer membrane NA 1 PE1 NX_Q969F1 24049 213 4.13 6 Nucleoplasm;Nucleus NA 0 PE1 NX_Q969F2 50055 451 7.83 5 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA 0 PE1 NX_Q969F8 42586 398 9.93 19 Cytoplasmic vesicle;Cell membrane Precocious puberty, central 1;Hypogonadotropic hypogonadism 8 with or without anosmia 7 PE1 NX_Q969F9 113736 1004 6.01 3 Cytosol;Cytoplasm;Cell membrane;Golgi apparatus Hermansky-Pudlak syndrome 3 0 PE1 NX_Q969G2 43124 390 7.52 1 Nucleus speckle;Nucleus Pituitary hormone deficiency, combined, 4 0 PE1 NX_Q969G3 46649 411 4.85 17 Nucleoplasm;Nucleus Meningioma;Coffin-Siris syndrome 5 0 PE1 NX_Q969G5 27701 261 6.05 11 Caveola;Cytosol;Cell membrane;Cytoplasm NA 0 PE1 NX_Q969G6 17623 155 7.85 9 Cytoplasm;Golgi apparatus NA 0 PE1 NX_Q969G9 52285 470 8.82 16 Cytoplasm;Nucleolus;Cell membrane NA 0 PE1 NX_Q969H0 79663 707 5.5 4 Cytoplasmic vesicle;Nucleoplasm;Nucleolus;Cytoplasm NA 0 PE1 NX_Q969H4 79706 720 5.22 1 Cytosol;Cytoplasm;Membrane NA 0 PE1 NX_Q969H6 18820 163 6.89 12 Nucleolus;Nucleus NA 0 PE1 NX_Q969H8 18795 173 6.2 19 Endoplasmic reticulum-Golgi intermediate compartment;Secreted NA 0 PE1 NX_Q969H9 11440 104 8.68 2 Nucleoplasm NA 0 PE2 NX_Q969I3 35101 302 6.41 11 Cytosol;Golgi apparatus NA 0 PE1 NX_Q969I6 60764 547 6.02 12 Cell membrane NA 10 PE1 NX_Q969J2 61579 545 7.56 6 Nucleus NA 0 PE1 NX_Q969J3 22222 196 5.97 12 Cytosol;Lysosome membrane NA 0 PE1 NX_Q969J5 30550 263 8.31 6 Secreted NA 0 PE1 NX_Q969K3 41641 372 4.83 12 Nucleus speckle;Nucleoplasm;Cell membrane;Endomembrane system;Cytosol;Nucleus NA 0 PE1 NX_Q969K4 53979 478 5.15 3 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 NX_Q969K7 23772 222 8.06 1 Cytoplasmic vesicle;Membrane NA 4 PE1 NX_Q969L2 19125 176 5.76 8 Perinuclear region;Apical cell membrane;Cell membrane;Endomembrane system NA 4 PE1 NX_Q969L4 14080 123 9.3 1 Nucleus NA 0 PE1 NX_Q969M1 33917 308 6.73 1 Cytoplasm;Nucleus;Mitochondrion outer membrane NA 0 PE1 NX_Q969M2 61872 543 7.89 6 Gap junction;Cell membrane NA 4 PE2 NX_Q969M3 27989 257 4.18 5 Endoplasmic reticulum membrane;Golgi apparatus;Nucleoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;cis-Golgi network membrane;COPII-coated vesicle NA 5 PE1 NX_Q969M7 21077 185 6.31 2 Cytosol NA 0 PE1 NX_Q969N2 65700 578 8.64 20 Endoplasmic reticulum membrane Multiple congenital anomalies-hypotonia-seizures syndrome 3;Paroxysmal nocturnal hemoglobinuria 2 1 PE1 NX_Q969N4 38029 342 6.42 6 Cell membrane NA 7 PE2 NX_Q969P0 65034 613 8.23 1 Cell membrane NA 1 PE1 NX_Q969P5 41637 355 9.45 8 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q969P6 69872 601 9.46 8 Mitochondrion NA 0 PE1 NX_Q969Q0 12469 106 10.67 14 Cytoplasm NA 0 PE1 NX_Q969Q1 40248 353 4.85 1 Cytoplasm;M line;Nucleus;Z line NA 0 PE1 NX_Q969Q4 21391 196 5.96 13 NA Leukemia, chronic lymphocytic 0 PE1 NX_Q969Q5 23124 203 5.85 5 Cytosol;Focal adhesion;Membrane NA 0 PE1 NX_Q969Q6 53316 453 5.07 14 Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q969R2 101266 916 6.1 22 Cytosol;Membrane NA 0 PE1 NX_Q969R5 79110 705 6.4 22 Nucleoplasm;Nucleus NA 0 PE1 NX_Q969R8 49313 447 5.06 12 Nucleoplasm;Cytoskeleton;Lysosome membrane;Endoplasmic reticulum NA 0 PE1 NX_Q969S0 37424 331 9.24 7 Golgi apparatus membrane NA 11 PE1 NX_Q969S2 36826 332 6.32 8 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q969S3 54272 477 5.8 5 Cytosol;Cytoplasm;Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 NX_Q969S6 15760 136 8.8 9 Endoplasmic reticulum membrane NA 4 PE1 NX_Q969S8 71445 669 5.44 22 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q969S9 86601 779 6.08 5 Mitochondrion NA 0 PE1 NX_Q969T3 41365 373 5.11 20 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Early endosome membrane;Microtubule organizing center NA 0 PE1 NX_Q969T4 22913 207 6.73 2 Cytoplasm;Nucleus NA 0 PE1 NX_Q969T7 34389 300 5.95 17 Cytoplasm NA 0 PE1 NX_Q969T9 28087 261 5.65 17 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Deafness, autosomal recessive, 107 0 PE1 NX_Q969U6 63922 566 5.89 9 Mitochondrion;Cytoplasm NA 0 PE1 NX_Q969U7 29396 264 6.61 18 Nucleus NA 0 PE1 NX_Q969V1 38849 340 9.09 6 Cell membrane NA 7 PE1 NX_Q969V3 62974 563 6.4 19 Endoplasmic reticulum membrane;Nucleoplasm;Lipid droplet;Endoplasmic reticulum NA 1 PE1 NX_Q969V4 48283 418 5.98 17 Flagellum axoneme;Cilium axoneme NA 0 PE1 NX_Q969V5 39800 352 8.46 1 Mitochondrion;Cytosol;Peroxisome;Nucleoplasm;Mitochondrion outer membrane NA 2 PE1 NX_Q969V6 98919 931 5.59 22 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q969W0 8466 71 6.7 14 Endoplasmic reticulum membrane NA 2 PE1 NX_Q969W1 43633 377 9.71 10 Endoplasmic reticulum membrane;Cytosol;Nucleus;Nucleus membrane NA 4 PE1 NX_Q969W3 19484 186 11.26 17 Cytosol;Nucleoplasm NA 0 PE1 NX_Q969W8 49219 418 8.36 19 Nucleus NA 0 PE1 NX_Q969W9 31609 287 6.41 20 Cytoplasmic vesicle;Early endosome membrane;Golgi apparatus membrane NA 1 PE1 NX_Q969X0 23986 211 4.95 12 Cytosol;Cilium;Centrosome NA 0 PE1 NX_Q969X1 34607 311 7.6 2 Cytoplasmic vesicle;Endosome membrane;Lysosome membrane;Membrane NA 7 PE1 NX_Q969X2 38068 333 9.91 9 Golgi apparatus membrane;Nucleus NA 1 PE1 NX_Q969X5 32592 290 6.59 5 Endoplasmic reticulum membrane;Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Centrosome Arthrogryposis multiplex congenita, neurogenic type 2 PE1 NX_Q969X6 76890 686 9.03 16 Nucleolus;Chromosome NA 0 PE1 NX_Q969Y0 63800 559 9.05 3 Nucleoplasm;Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q969Y2 52058 492 6.03 19 Mitochondrion Combined oxidative phosphorylation deficiency 23 0 PE1 NX_Q969Z0 70738 631 6.98 7 Mitochondrion;Mitochondrion matrix NA 0 PE1 NX_Q969Z3 38023 335 9.32 1 Mitochondrion;Mitochondrion outer membrane;Peroxisome NA 0 PE1 NX_Q969Z4 46092 430 8.75 11 Cytoplasm;Perinuclear region;Nucleus;Cell membrane NA 1 PE1 NX_Q96A00 16693 147 9.41 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q96A04 13670 125 9.18 1 Nucleus NA 0 PE1 NX_Q96A05 26074 226 8.79 2 NA NA 0 PE1 NX_Q96A08 14167 127 10.31 6 Nucleus;Chromosome NA 0 PE1 NX_Q96A09 46688 425 8.39 1 NA NA 0 PE1 NX_Q96A11 48956 431 9.96 11 Golgi stack membrane NA 1 PE1 NX_Q96A19 62596 550 5.49 16 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96A22 13921 123 9.51 11 Cell junction NA 0 PE1 NX_Q96A23 62395 557 5.92 3 Nucleoplasm;Cytosol NA 0 PE1 NX_Q96A25 28920 262 6.74 17 Membrane NA 1 PE1 NX_Q96A26 17342 154 9.81 3 Mitochondrion;Cytosol;Membrane NA 1 PE1 NX_Q96A28 32436 289 7.58 1 Membrane NA 1 PE2 NX_Q96A29 39809 364 8.66 11 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2C 8 PE1 NX_Q96A32 19015 169 4.91 16 NA NA 0 PE1 NX_Q96A33 55874 483 4.76 17 Endoplasmic reticulum;Membrane NA 1 PE1 NX_Q96A35 24915 216 9.33 1 Mitochondrion NA 0 PE1 NX_Q96A37 26122 237 8.42 16 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 NX_Q96A44 30179 273 9.39 3 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus NA 0 PE1 NX_Q96A46 39272 364 8.86 10 Mitochondrion inner membrane NA 6 PE1 NX_Q96A47 39768 359 8.64 15 Cytoplasm;Nucleus NA 0 PE1 NX_Q96A49 39933 352 4.45 X Perikaryon;Golgi apparatus;Dendrite;Nucleoplasm;Axon;Cytosol;Perinuclear region;Postsynaptic cell membrane;Presynaptic cell membrane;Membrane;Growth cone NA 0 PE1 NX_Q96A54 42616 375 6.53 1 Cell membrane NA 7 PE1 NX_Q96A56 27366 240 4.75 8 Cytosol;PML body;Nucleus;Autophagosome NA 0 PE1 NX_Q96A57 13188 120 9.3 20 Late endosome;Early endosome;Endoplasmic reticulum;Autophagosome;trans-Golgi network;Membrane;Recycling endosome;Synaptic vesicle Parkinson disease 2 PE1 NX_Q96A58 22608 199 6.91 12 Cytoplasm NA 0 PE1 NX_Q96A59 44911 401 8.84 16 Cytoplasmic vesicle;Cytoskeleton;Tight junction;Membrane NA 4 PE1 NX_Q96A61 34653 297 4.14 5 Cytoskeleton;Nucleolus NA 0 PE1 NX_Q96A65 110498 974 6.07 7 Nucleolus;Cytoplasm;Nucleus;Cell projection;Midbody ring NA 0 PE1 NX_Q96A70 49980 460 5.4 1 Axon;Perikaryon;Cytoplasmic granule;Cytoplasm;cis-Golgi network;Cytoplasmic vesicle;Dendrite;Perinuclear region;Nucleus;trans-Golgi network;Membrane;Endoplasmic reticulum-Golgi intermediate compartment NA 0 PE1 NX_Q96A72 17276 148 5.96 12 Nucleus NA 0 PE1 NX_Q96A73 33247 305 9.39 5 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q96A83 45381 441 7.02 7 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 NX_Q96A84 45292 441 9.31 22 Extracellular matrix NA 0 PE1 NX_Q96A98 11202 100 11.83 19 Secreted NA 0 PE1 NX_Q96A99 52339 478 9.64 16 Cytosol;Secreted NA 0 PE2 NX_Q96AA3 60335 541 9.07 3 Cytoplasmic vesicle;Membrane Congenital disorder of glycosylation 1N 12 PE1 NX_Q96AA8 94934 810 5.88 5 Golgi apparatus NA 0 PE1 NX_Q96AB3 22337 205 7.67 19 Cytosol;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q96AB6 34677 310 5.82 16 Nucleoplasm;Cytoplasm;Golgi apparatus NA 0 PE1 NX_Q96AC1 77861 680 6.26 14 Stress fiber;Nucleoplasm;Cytoplasm;Cell cortex;I band;Focal adhesion;Nucleus;Lamellipodium membrane;Membrane;Cell surface;Cytoskeleton NA 0 PE1 NX_Q96AC6 90147 838 9.62 8 Cytosol;Nucleoplasm;Cytoskeleton NA 0 PE1 NX_Q96AD5 55316 504 6.65 11 Nucleoplasm;Lipid droplet;Cell membrane Neutral lipid storage disease with myopathy 1 PE1 NX_Q96AE4 67560 644 7.18 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96AE7 129558 1141 6.11 11 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q96AG3 46174 418 6.97 5 Mitochondrion;Mitochondrion outer membrane Neuropathy, hereditary motor and sensory, 6B 6 PE1 NX_Q96AG4 34930 307 9.61 17 Endoplasmic reticulum membrane;Microsome membrane;Nucleus envelope;Endoplasmic reticulum NA 1 PE1 NX_Q96AH0 22423 204 9.63 2 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q96AH8 22511 199 6.31 1 Late endosome;Golgi apparatus;Lysosome;Phagosome;trans-Golgi network;Phagosome membrane NA 0 PE1 NX_Q96AJ1 48125 413 4.68 16 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cilium NA 0 PE1 NX_Q96AJ9 25218 217 6.06 10 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q96AK3 46598 386 8.73 22 Cytoplasm;P-body NA 0 PE1 NX_Q96AM1 38171 343 8.96 11 Nucleus membrane;Cell membrane NA 7 PE1 NX_Q96AN5 51715 459 9.69 19 Nucleolus;Membrane NA 2 PE1 NX_Q96AP0 57733 544 6.29 16 Nucleus;Telomere Dyskeratosis congenita, autosomal recessive, 7;Dyskeratosis congenita, autosomal dominant, 6 0 PE1 NX_Q96AP4 65959 578 6.05 6 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q96AP7 41176 390 9.42 11 Adherens junction;Cytoskeleton;Cell membrane;Tight junction NA 1 PE1 NX_Q96AQ1 41605 378 10.52 2 Nucleus NA 0 PE1 NX_Q96AQ2 22172 219 8.32 1 Cytosol;Midbody;Membrane NA 4 PE2 NX_Q96AQ6 80643 731 5.21 1 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Nucleus NA 0 PE1 NX_Q96AQ7 26754 238 8.95 3 Lipid droplet;Nucleus;Endoplasmic reticulum Lipodystrophy, familial partial, 5 0 PE1 NX_Q96AQ8 39694 359 9.67 6 Mitochondrion inner membrane NA 2 PE1 NX_Q96AQ9 30351 280 4.51 1 Cytosol;Cytoskeleton;Nucleolus NA 0 PE1 NX_Q96AT1 17465 154 5.86 3 Cytoskeleton;Nucleus NA 0 PE1 NX_Q96AT9 24928 228 5.33 2 NA NA 0 PE1 NX_Q96AV8 99888 911 8.33 12 Nucleus speckle;Nucleus NA 0 PE1 NX_Q96AW1 19224 172 8.77 7 Cytoplasmic vesicle membrane;Golgi apparatus NA 1 PE1 NX_Q96AX1 67611 596 6.5 12 Lysosome membrane;Nucleoplasm;Cytoplasmic vesicle;Late endosome membrane;Autophagosome;Early endosome;Clathrin-coated vesicle Mucopolysaccharidosis-plus syndrome 0 PE1 NX_Q96AX2 24815 223 5.98 17 Cytoplasmic vesicle NA 0 PE1 NX_Q96AX9 109939 1013 8.81 1 Cytoplasm;Endosome NA 0 PE1 NX_Q96AY2 63252 570 6.7 17 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q96AY3 64245 582 5.36 17 Cytoplasmic vesicle;Endoplasmic reticulum lumen Bruck syndrome 1;Osteogenesis imperfecta 11 0 PE1 NX_Q96AY4 270884 2481 6.42 22 Nucleolus;Spindle pole;Centrosome;Midbody;Mitochondrion;Spindle;Cytoskeleton NA 0 PE1 NX_Q96AZ1 24911 226 5.29 12 Nucleoplasm;Cytoplasm;Nucleus;Centrosome;Golgi apparatus NA 0 PE1 NX_Q96AZ6 20363 181 9.09 15 Cytoplasm;Nucleolus;Nucleus;Cajal body NA 0 PE1 NX_Q96B01 38457 352 9.18 12 Nucleus NA 0 PE1 NX_Q96B02 17331 151 7.64 8 Nucleolus;Nucleus NA 0 PE1 NX_Q96B18 64949 629 10.38 19 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 NX_Q96B21 31826 275 6.45 11 Cytosol;Nucleoplasm;Membrane NA 7 PE1 NX_Q96B23 43395 404 4.77 18 Cytosol;Nucleoplasm NA 0 PE1 NX_Q96B26 30040 276 5.17 13 Mitochondrion;Cytoplasm;Nucleolus;Nucleus Pontocerebellar hypoplasia 1C 0 PE1 NX_Q96B33 31915 292 7.51 8 Nucleus;Tight junction;Cell membrane NA 4 PE1 NX_Q96B36 27383 256 4.65 19 Cytosol NA 0 PE1 NX_Q96B42 16265 140 9.35 2 Mitochondrion;Cytoplasm;Nucleus membrane NA 3 PE1 NX_Q96B45 11564 105 6.27 10 Cytosol;Nucleus speckle;Lysosome membrane NA 0 PE1 NX_Q96B49 8002 74 4.66 6 Mitochondrion;Mitochondrion outer membrane NA 0 PE1 NX_Q96B54 20481 188 4.14 19 Mitochondrion;Nucleolus NA 0 PE1 NX_Q96B67 46395 414 6.16 5 Cytoplasm;Endosome;Lysosome;Cell membrane;Early endosome NA 0 PE1 NX_Q96B70 53167 501 8.01 19 Nucleolus NA 0 PE1 NX_Q96B77 24893 213 9.9 16 Mitochondrion;Cell junction;Membrane NA 2 PE1 NX_Q96B86 49347 450 7.18 15 Nucleoplasm;Cytosol;Cell membrane;Endoplasmic reticulum NA 0 PE1 NX_Q96B96 17522 161 5.05 16 Cytoplasmic vesicle;Membrane NA 3 PE1 NX_Q96B97 73126 665 6.24 X Synaptosome;Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Cytoskeleton;Cytoplasmic vesicle membrane NA 0 PE1 NX_Q96BA8 57005 519 5.03 11 Endoplasmic reticulum membrane;Cytosol;Nucleus;Cell membrane Osteogenesis imperfecta 16 1 PE1 NX_Q96BD0 77193 722 8.15 20 Cell junction;Cell membrane NA 12 PE1 NX_Q96BD5 74854 680 9.51 11 Nucleus NA 0 PE1 NX_Q96BD6 30942 273 8.34 1 Cytosol;Cytoplasm NA 0 PE1 NX_Q96BD8 29484 255 6.68 18 Kinetochore;Spindle;Cytoskeleton NA 0 PE1 NX_Q96BF3 30675 282 9.13 19 Cell membrane NA 1 PE1 NX_Q96BF6 62837 587 5.64 9 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 NX_Q96BH1 51219 459 6.1 2 Nucleoplasm;Cytosol NA 0 PE1 NX_Q96BH3 26106 223 6.2 19 Secreted NA 0 PE1 NX_Q96BI1 44846 424 9.66 11 Apical cell membrane Lung cancer;Rhabdomyosarcoma, embryonal, 1 10 PE1 NX_Q96BI3 28996 265 7.74 1 Endoplasmic reticulum membrane;Golgi stack membrane NA 7 PE1 NX_Q96BJ3 35023 306 6.13 1 Cytosol;Cytoskeleton NA 0 PE1 NX_Q96BJ8 81467 720 5.94 16 Cytoplasm;Cell junction;Cell membrane NA 0 PE1 NX_Q96BK5 37035 328 9.61 8 Kinetochore;Nucleolus;Nucleus;Telomere NA 0 PE1 NX_Q96BM0 9549 104 9.7 14 Membrane NA 3 PE1 NX_Q96BM1 34295 317 9.59 14 NA NA 0 PE1 NX_Q96BM9 21416 186 7.63 1 Late endosome membrane;Lysosome membrane NA 0 PE1 NX_Q96BN2 37382 335 6.92 1 Nucleoplasm;Cytosol;Focal adhesion;Nucleus NA 0 PE1 NX_Q96BN6 64618 582 6.3 10 Nucleoplasm NA 0 PE1 NX_Q96BN8 40263 352 5.35 5 Mitochondrion;Cytoplasm;Cell membrane Autoinflammation, panniculitis, and dermatosis syndrome 0 PE1 NX_Q96BP2 13475 118 10.24 10 Mitochondrion;Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q96BP3 73575 646 6.7 5 Nucleus NA 0 PE1 NX_Q96BQ1 24963 224 9.42 3 Secreted NA 0 PE1 NX_Q96BQ3 52265 446 8.24 2 NA NA 0 PE1 NX_Q96BQ5 30834 260 9.26 5 Nucleolus;Nucleus NA 0 PE1 NX_Q96BR1 57108 496 6.45 8 Cytoplasmic vesicle;Nucleoplasm;Recycling endosome;Early endosome NA 0 PE1 NX_Q96BR5 25709 231 5.66 1 Mitochondrion;Nucleus;Mitochondrion intermembrane space NA 0 PE1 NX_Q96BR6 52597 464 9.06 1 Nucleolus;Nucleus NA 0 PE1 NX_Q96BR9 50141 441 6.81 1 Nucleus speckle;Focal adhesion;Nucleus NA 0 PE1 NX_Q96BS2 24750 214 4.84 12 Cytosol;Cytoplasm;Cell membrane;Nucleus;Ruffle membrane;Membrane;Lamellipodium NA 0 PE1 NX_Q96BT1 33461 292 10.19 3 NA NA 0 PE2 NX_Q96BT3 60423 561 6.14 16 Kinetochore;Nucleus;Centromere NA 0 PE1 NX_Q96BT7 75208 664 8.21 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q96BU1 45582 408 5.02 1 Nucleus speckle;Nucleus NA 0 PE1 NX_Q96BV0 59752 537 10.23 7 Nucleus NA 0 PE1 NX_Q96BW1 33786 309 5.71 X Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_Q96BW5 39018 349 6.07 10 Cytosol;Nucleoplasm NA 0 PE1 NX_Q96BW9 51067 452 8.23 3 Cytosol;Mitochondrion inner membrane NA 0 PE1 NX_Q96BX8 25464 217 8.81 19 NA NA 0 PE1 NX_Q96BY2 39513 351 5.21 14 Cytoplasm;Nucleus;Cell junction NA 0 PE1 NX_Q96BY6 249531 2186 6.72 2 Cytosol;Cytoplasm;Nucleus;Dendritic spine;Nucleoplasm NA 0 PE1 NX_Q96BY7 232763 2078 5.49 14 Nucleoplasm;Lipid droplet;Preautophagosomal structure membrane NA 0 PE1 NX_Q96BY9 36975 339 7.5 8 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum NA 1 PE1 NX_Q96BZ4 55626 506 8.61 14 Membrane NA 1 PE1 NX_Q96BZ8 30529 264 9.68 19 Nucleus;Cell membrane NA 0 PE1 NX_Q96BZ9 45855 403 6.37 20 Membrane Warburg micro syndrome 4 2 PE1 NX_Q96C00 50602 473 6.29 6 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 NX_Q96C01 15641 138 7.56 2 Mitochondrion NA 0 PE1 NX_Q96C03 49269 454 5.01 17 Mitochondrion outer membrane NA 1 PE1 NX_Q96C10 76613 678 6.98 17 Nucleoplasm;Cytoplasm;Cytosol;Golgi apparatus NA 0 PE1 NX_Q96C11 59993 551 5.9 1 Nucleoplasm;Cytoplasm;Nucleus Amyotrophic lateral sclerosis 0 PE1 NX_Q96C12 97682 935 6.75 16 Nucleoplasm;Cytosol;Focal adhesion;Cytoplasm ACTH-independent macronodular adrenal hyperplasia 2 0 PE1 NX_Q96C19 26697 240 5.15 1 Cytosol;Membrane raft NA 0 PE1 NX_Q96C23 37766 342 6.18 2 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q96C24 76024 671 9.1 X Cytosol;Cell membrane;Microtubule organizing center;Nucleoplasm;Membrane;Secretory vesicle membrane NA 0 PE1 NX_Q96C28 43088 371 9.73 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96C34 67643 613 5.84 17 Cytosol;Nucleus speckle NA 0 PE1 NX_Q96C36 33637 320 7.66 1 Mitochondrion;Cytoplasm Leukodystrophy, hypomyelinating, 10 0 PE1 NX_Q96C45 142442 1275 5.9 3 Mitochondrion;Cytosol;Nucleoplasm NA 0 PE1 NX_Q96C55 28709 264 9.07 19 Nucleus NA 0 PE1 NX_Q96C57 28171 262 9.44 12 Nucleolus;Nucleus;Nucleus envelope;Golgi apparatus NA 0 PE1 NX_Q96C74 26107 230 7.62 5 Flagellum;Cilium NA 0 PE1 NX_Q96C86 38609 337 5.93 11 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Al-Raqad syndrome 0 PE1 NX_Q96C90 15911 147 4.75 11 Cytoplasm NA 0 PE1 NX_Q96C92 47961 435 5.03 9 Endosome;Cytoplasm;Midbody;Early endosome;Recycling endosome;Centrosome;Cilium basal body NA 0 PE1 NX_Q96CA5 32798 298 5.43 20 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Microtubule organizing center NA 0 PE1 NX_Q96CB5 18380 159 10.91 8 Nucleoplasm;Nucleus NA 0 PE2 NX_Q96CB8 48808 462 9.72 4 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q96CB9 43089 384 8.47 1 Mitochondrion NA 0 PE1 NX_Q96CC6 97401 855 8.8 16 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Golgi apparatus membrane NA 7 PE1 NX_Q96CD0 40516 374 6.96 16 Golgi apparatus NA 0 PE1 NX_Q96CD2 22395 204 5.72 15 Cytosol NA 0 PE1 NX_Q96CE8 22277 201 7.4 3 Cytoplasmic vesicle;Nucleolus;Membrane NA 4 PE2 NX_Q96CF2 26411 233 5.83 8 Cytosol;Late endosome membrane;Midbody ring NA 0 PE1 NX_Q96CG3 21445 184 5.04 4 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q96CG8 26224 243 8.31 8 Nucleoplasm;Extracellular matrix Barrett esophagus 0 PE1 NX_Q96CH1 36580 333 8.55 7 Cell membrane NA 7 PE2 NX_Q96CJ1 28792 260 5.04 3 Nucleus speckle NA 0 PE1 NX_Q96CK0 67235 615 6.53 19 Nucleus NA 0 PE1 NX_Q96CM3 42205 377 9.9 11 Mitochondrion;Mitochondrion matrix;Nucleoplasm NA 0 PE1 NX_Q96CM4 23943 212 4.72 19 Nucleus outer membrane NA 0 PE1 NX_Q96CM8 68125 615 7.5 17 Mitochondrion;Cytosol;Cytoskeleton;Nucleoplasm NA 0 PE1 NX_Q96CN4 91376 794 5.25 19 Nucleus NA 0 PE1 NX_Q96CN5 75951 670 5.95 17 Cytosol;Nucleoplasm;Centrosome;Cell membrane NA 0 PE1 NX_Q96CN7 32237 298 6.96 5 Cytoplasmic vesicle;Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_Q96CN9 87811 775 5.35 7 Cytosol;Cytoplasm;Golgi apparatus membrane;Golgi apparatus;Cell membrane NA 0 PE1 NX_Q96CP2 14564 140 8.6 16 Nucleus NA 0 PE1 NX_Q96CP6 80680 724 6.29 19 Cytosol;Endoplasmic reticulum membrane;Cell membrane NA 1 PE1 NX_Q96CP7 28548 247 9.54 17 Cytoplasm;Cell membrane NA 4 PE1 NX_Q96CQ1 34283 311 8.8 3 Cytosol;Nucleus;Mitochondrion;Mitochondrion inner membrane NA 6 PE1 NX_Q96CS2 31863 278 5.41 18 Cytosol;Cytoplasm;Spindle;Centrosome;Spindle pole NA 0 PE1 NX_Q96CS3 52623 445 5.46 5 Cytoplasm;Lipid droplet;Endoplasmic reticulum NA 0 PE1 NX_Q96CS4 56907 500 9.89 16 Nucleolus;Nucleus NA 0 PE1 NX_Q96CS7 24736 222 5.15 2 Recycling endosome membrane NA 0 PE1 NX_Q96CT2 94228 875 6.73 2 Mitochondrion;Cytosol NA 0 PE1 NX_Q96CT7 25835 223 9.54 19 Cytosol;Centrosome;Cell membrane;Midbody NA 0 PE1 NX_Q96CU9 53812 486 7.66 11 Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency 1 PE1 NX_Q96CV9 65922 577 5.12 10 Golgi apparatus;Cytosol;Cytoplasmic vesicle;Perinuclear region;Autophagosome;trans-Golgi network;Recycling endosome Amyotrophic lateral sclerosis 12;Glaucoma, normal pressure;Glaucoma 1, open angle, E 0 PE1 NX_Q96CW1 49655 435 9.57 3 Coated pit;Cell membrane NA 0 PE1 NX_Q96CW5 103571 907 8.35 13 Centrosome NA 0 PE1 NX_Q96CW6 35028 309 4.52 16 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q96CW9 59799 530 6.13 9 Nucleolus;Cytosol;Midbody ring;Cell membrane;Nucleus;Cytoskeleton NA 0 PE1 NX_Q96CX2 35701 325 5.51 13 Mitochondrion;Postsynaptic cell membrane;Presynaptic cell membrane NA 0 PE1 NX_Q96CX3 31179 271 9.39 3 Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q96CX6 40586 371 6.41 3 Cytosol;Nucleus NA 0 PE1 NX_Q96D03 21740 193 7.49 4 Nucleoplasm;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q96D05 13238 121 11.58 10 Cytosol;Nucleus;Centrosome;Membrane NA 1 PE1 NX_Q96D09 93773 838 4.96 X Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q96D15 37493 328 4.74 19 Cytoplasmic vesicle;Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 NX_Q96D21 30366 266 9.09 22 Cytosol;Cell membrane NA 0 PE1 NX_Q96D31 32668 301 8.45 12 Cytosol;Cell membrane Immunodeficiency 9;Myopathy, tubular aggregate, 2 4 PE1 NX_Q96D42 38720 359 6.44 5 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q96D46 57603 503 6.76 3 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q96D53 60069 544 6.84 19 Cytosol;Mitochondrion;Cell membrane;Mitochondrion membrane Nephrotic syndrome 9 1 PE1 NX_Q96D59 21617 192 7.59 9 Endoplasmic reticulum membrane;cis-Golgi network membrane;Lysosome membrane;Endoplasmic reticulum NA 1 PE1 NX_Q96D70 30350 268 8.82 19 Cytosol;Nucleus NA 0 PE1 NX_Q96D71 86662 796 5.45 6 Cytosol;Cytoplasmic vesicle;Clathrin-coated pit;Cell membrane Neurodegeneration with brain iron accumulation 7 0 PE1 NX_Q96D96 31683 273 6.33 12 Cell membrane;Membrane NA 4 PE1 NX_Q96D98 16985 161 4.67 19 Nucleus NA 0 PE1 NX_Q96DA0 22739 208 6.74 16 Cytoplasmic vesicle;Nucleoplasm;Secreted NA 0 PE1 NX_Q96DA2 24622 213 7.69 X Cytoplasmic vesicle membrane;Cell membrane;Golgi apparatus Waisman syndrome;Mental retardation, X-linked 72 0 PE1 NX_Q96DA6 12499 116 10.1 3 Mitochondrion inner membrane 3-methylglutaconic aciduria 5 1 PE1 NX_Q96DB2 39183 347 7.17 3 Nucleus;Cell membrane NA 0 PE1 NX_Q96DB5 35808 314 8.64 8 Cytoplasm;Cytoskeleton;Centrosome;Spindle;Spindle pole NA 0 PE1 NX_Q96DB9 19472 178 5.51 19 Endoplasmic reticulum;Cell membrane;Membrane NA 1 PE1 NX_Q96DC7 54442 493 5.58 5 Mitochondrion;Nucleoplasm;Membrane NA 2 PE1 NX_Q96DC8 32634 303 8.9 10 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 NX_Q96DC9 27213 234 5.81 14 NA NA 0 PE1 NX_Q96DD0 38793 335 5.99 1 M line NA 0 PE1 NX_Q96DD7 21522 197 8.21 1 Membrane NA 1 PE1 NX_Q96DE0 21273 195 6.38 3 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q96DE5 11667 110 4.91 10 Cytosol;Kinetochore;Nucleus;Cytoplasm NA 0 PE1 NX_Q96DE9 17780 158 6.43 X NA NA 0 PE2 NX_Q96DF8 52568 476 7.06 22 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96DG6 28048 245 6.71 5 Cytosol NA 0 PE1 NX_Q96DH6 35197 328 8.62 17 Cytosol;Cytoplasm NA 0 PE1 NX_Q96DI7 39311 357 8.34 1 Nucleus speckle;Nucleus NA 0 PE1 NX_Q96DL1 64901 559 8.85 11 Membrane NA 1 PE1 NX_Q96DM1 67004 585 9.29 15 Nucleoplasm;Centrosome NA 0 PE1 NX_Q96DM3 74975 657 7.89 18 Lysosome membrane;Late endosome membrane;Nucleus NA 0 PE1 NX_Q96DN0 30480 273 4.57 12 Endoplasmic reticulum lumen NA 0 PE1 NX_Q96DN2 99915 955 6.06 11 Cytosol;Cytoplasmic vesicle;Nucleus;Secreted NA 0 PE1 NX_Q96DN5 124189 1066 8.84 8 Centrosome NA 0 PE1 NX_Q96DN6 101201 1003 9.72 12 Nucleus;Chromosome NA 0 PE1 NX_Q96DP5 43832 389 9.7 15 Mitochondrion;Cytosol;Nucleoplasm Combined oxidative phosphorylation deficiency 15;Leigh syndrome 0 PE1 NX_Q96DR4 23517 205 5.12 5 Cell membrane NA 0 PE1 NX_Q96DR5 27011 249 5.35 20 Secreted NA 0 PE1 NX_Q96DR7 97346 871 9.07 3 Cytosol;Nucleoplasm;Ruffle;Cell membrane NA 0 PE1 NX_Q96DR8 9039 90 4.41 12 Secreted;Membrane NA 0 PE1 NX_Q96DS6 15909 147 8.48 11 Membrane NA 2 PE2 NX_Q96DT0 37542 336 9.3 11 Nucleus NA 0 PE1 NX_Q96DT5 520369 4516 6.03 7 Cilium axoneme Ciliary dyskinesia, primary, 7 0 PE1 NX_Q96DT6 52497 458 5.65 1 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q96DT7 94894 871 5.05 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96DU3 37345 332 6.32 1 Cell membrane NA 1 PE1 NX_Q96DU7 75207 683 5.03 19 Cytoplasm;Nucleus;Nucleus speckle Kawasaki disease 0 PE1 NX_Q96DU9 43331 382 9.55 X Mitochondrion matrix;Cytoplasm NA 0 PE1 NX_Q96DV4 44597 380 7.19 17 Mitochondrion NA 0 PE1 NX_Q96DW6 33566 304 9.57 3 Mitochondrion inner membrane Anemia, sideroblastic, 2, pyridoxine-refractory 6 PE1 NX_Q96DX4 64180 576 5.35 16 Secreted Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type 0 PE1 NX_Q96DX5 31858 294 6.48 X Mitochondrion NA 0 PE1 NX_Q96DX7 38472 344 4.16 11 Cytoplasmic vesicle;Cell membrane Aniridia 3 0 PE1 NX_Q96DX8 27863 246 8.56 3 Nucleus;Membrane NA 1 PE1 NX_Q96DY2 52359 449 9.26 12 Flagellum axoneme;Nucleus NA 0 PE1 NX_Q96DY7 102193 904 7.91 8 Nucleus NA 0 PE1 NX_Q96DZ1 54858 483 5.88 2 Endoplasmic reticulum lumen NA 0 PE1 NX_Q96DZ5 59560 547 7.93 19 Cytoplasm;Cell membrane;Golgi apparatus;Golgi stack NA 0 PE1 NX_Q96DZ7 22433 209 8.87 3 Membrane NA 4 PE2 NX_Q96DZ9 24653 223 6.13 14 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 4 PE1 NX_Q96E09 30529 287 6.32 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96E11 29277 262 9.8 9 Mitochondrion;Cytoskeleton NA 0 PE1 NX_Q96E14 15865 147 7.76 16 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 NX_Q96E16 12439 107 5.37 8 Membrane NA 1 PE1 NX_Q96E17 25952 227 5.09 5 Cytosol;Cell membrane NA 0 PE1 NX_Q96E22 33224 293 8.81 6 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cell membrane Congenital disorder of glycosylation 1AA;Mental retardation, autosomal dominant 55, with seizures 3 PE1 NX_Q96E29 47971 417 8.6 8 Mitochondrion;Nucleoplasm NA 0 PE1 NX_Q96E35 26433 227 6.4 9 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus;Cell membrane NA 0 PE1 NX_Q96E39 42142 390 9.9 1 Nucleus NA 0 PE1 NX_Q96E40 25166 222 9.3 9 Flagellum;Acrosome;Cytoplasm;Nucleus;Mitochondrion;Cilium basal body NA 0 PE1 NX_Q96E52 60120 524 9.36 1 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA 2 PE1 NX_Q96E66 22206 192 9.38 11 Cytoplasm;Cytoskeleton;Nucleolus NA 0 PE1 NX_Q96E93 21831 195 5.27 12 Cytoplasmic vesicle;Cell membrane NA 1 PE1 NX_Q96EA4 70172 605 5.41 5 Kinetochore;Cytosol;Nucleus;Centrosome;Spindle pole NA 0 PE1 NX_Q96EB1 46588 424 8.75 11 Nucleoplasm;Cytoplasm;Nucleus Aniridia 2 0 PE1 NX_Q96EB6 81681 747 4.55 10 Cytosol;Cytoplasm;Mitochondrion;Nucleus;PML body NA 0 PE1 NX_Q96EC8 26256 236 5.46 X Cytoplasmic vesicle;Golgi apparatus membrane;Endoplasmic reticulum NA 5 PE1 NX_Q96ED9 83207 719 5.36 19 Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Cytosol;Centrosome NA 0 PE1 NX_Q96EE3 39649 360 8.34 18 Kinetochore;Nuclear pore complex;Lysosome membrane NA 0 PE1 NX_Q96EE4 15668 140 9.87 7 Nucleoplasm;Secreted NA 0 PE1 NX_Q96EF0 78919 704 6.2 X Nucleus envelope NA 0 PE1 NX_Q96EF6 31479 278 8.46 19 NA NA 0 PE1 NX_Q96EF9 33285 292 6.61 8 NA NA 0 PE2 NX_Q96EG1 57061 525 6.16 17 Lysosome NA 0 PE1 NX_Q96EG3 58078 531 9.52 19 Nucleolus;Nucleus NA 0 PE1 NX_Q96EH3 26170 234 5.32 7 Mitochondrion matrix;Mitochondrion NA 0 PE1 NX_Q96EH5 6293 51 12.41 3 NA NA 0 PE1 NX_Q96EH8 28789 262 8.36 2 NA NA 0 PE2 NX_Q96EI5 24647 215 5.16 X Nucleus NA 0 PE1 NX_Q96EK2 57455 531 9.43 22 Nucleolus;Nucleus NA 0 PE1 NX_Q96EK4 34455 314 9.18 16 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q96EK5 71814 621 5.34 10 Cytoskeleton Goldberg-Shprintzen syndrome 0 PE1 NX_Q96EK6 20749 184 8.17 14 Endosome membrane;Golgi apparatus membrane NA 0 PE1 NX_Q96EK7 103783 910 5.49 6 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q96EK9 38616 354 6.47 1 Cytosol;Nucleus speckle NA 0 PE1 NX_Q96EL1 31328 285 5.28 3 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q96EL2 19015 167 9.48 7 Nucleoplasm;Cytoplasmic vesicle;Mitochondrion NA 0 PE1 NX_Q96EL3 12107 112 9.05 2 Mitochondrion;Nucleolus NA 0 PE1 NX_Q96EM0 38138 354 6.2 14 Cytoplasmic vesicle NA 0 PE1 NX_Q96EN8 98120 888 6.23 18 Cytosol;Mitochondrion Xanthinuria 2 0 PE1 NX_Q96EN9 22599 201 6.47 19 Cytoplasmic vesicle NA 0 PE1 NX_Q96EP0 119652 1072 6.14 14 Cytosol;Cytoplasm NA 0 PE1 NX_Q96EP1 73386 664 5.71 12 PML body;Cytoskeleton;Nucleus NA 0 PE1 NX_Q96EP5 43383 407 8.73 19 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q96EP9 46504 437 5.09 4 Cell membrane NA 7 PE1 NX_Q96EQ0 33429 304 4.8 5 Nucleus NA 0 PE1 NX_Q96EQ8 26454 232 6.74 18 Cytosol;Nucleolus;Golgi apparatus membrane;Golgi apparatus Tenorio syndrome 0 PE1 NX_Q96ER3 53558 474 4.38 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96ER9 45811 411 8.3 3 Nucleoplasm;Mitochondrion;Centrosome;Membrane NA 2 PE1 NX_Q96ES6 42696 412 9.34 8 Cytoplasmic vesicle;Membrane NA 12 PE1 NX_Q96ES7 33238 293 8.2 16 Nucleolus;Nucleus NA 0 PE1 NX_Q96ET8 31105 276 9.47 17 Cell membrane;Membrane NA 2 PE1 NX_Q96EU6 29823 259 10.17 6 Nucleolus;Nucleus NA 0 PE1 NX_Q96EU7 36382 318 6.36 X Cytosol;Membrane Tn polyagglutination syndrome 1 PE1 NX_Q96EV2 129986 1170 6.45 7 Nucleoplasm NA 0 PE1 NX_Q96EV8 39493 351 4.59 6 Cytoskeleton;Synaptic vesicle membrane;Cytoplasm;Endoplasmic reticulum;Endosome membrane;Nucleus;Postsynaptic cell membrane;Melanosome membrane;Postsynaptic density;Cytoplasmic vesicle membrane;Midbody Hermansky-Pudlak syndrome 7 0 PE1 NX_Q96EW2 55167 488 5.38 3 Mitochondrion;Cytoplasm NA 0 PE1 NX_Q96EX1 10799 92 8.01 1 Mitochondrion;Membrane NA 1 PE1 NX_Q96EX2 48965 444 8.08 12 Cytosol;Nucleoplasm;Membrane NA 4 PE1 NX_Q96EX3 57801 536 6.16 9 Cytosol;Cytoplasm;Cilium axoneme;Cilium basal body Short-rib thoracic dysplasia 11 with or without polydactyly 0 PE1 NX_Q96EY1 52489 480 9.37 16 Mitochondrion;Mitochondrion matrix;Postsynaptic cell membrane;Cytosol NA 0 PE1 NX_Q96EY4 23864 203 9.33 4 Nucleolus NA 0 PE1 NX_Q96EY5 28783 273 9.1 19 Endosome;Golgi apparatus;Nucleoplasm;Cytoplasm;Late endosome membrane;Nucleus;Centrosome NA 0 PE1 NX_Q96EY7 78550 689 6 2 Mitochondrion NA 0 PE1 NX_Q96EY8 27388 250 8.86 12 Mitochondrion Methylmalonic aciduria type cblB 0 PE1 NX_Q96EY9 38071 351 8.06 19 Nucleus Mental retardation, autosomal recessive 36 0 PE1 NX_Q96EZ4 33556 313 9.21 11 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE2 NX_Q96EZ8 51803 462 9.41 12 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q96F05 46101 449 5.59 11 Cytoplasmic vesicle;Nucleoplasm;trans-Golgi network membrane;Cell membrane NA 1 PE1 NX_Q96F07 148399 1278 7.03 5 Synaptosome;Cytosol;Cytoplasm;Endoplasmic reticulum;Perinuclear region;Nucleus;Cell membrane Epileptic encephalopathy, early infantile, 65 0 PE1 NX_Q96F10 19155 170 5.77 17 Cytoplasm NA 0 PE1 NX_Q96F15 34846 307 7.6 7 Lysosome;Mitochondrion outer membrane NA 1 PE1 NX_Q96F24 32378 287 5.61 10 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleoplasm;Nucleus;Autophagosome NA 0 PE1 NX_Q96F25 24151 216 9.13 1 Endoplasmic reticulum membrane;Nucleolus;Nucleus;Nucleus membrane Myasthenic syndrome, congenital, 15 1 PE1 NX_Q96F44 52774 468 5.5 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q96F45 62555 646 8.94 10 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q96F46 96122 866 5.06 22 Cytosol;Nucleoplasm;Cell membrane;Secreted Immunodeficiency 51 1 PE1 NX_Q96F63 38947 343 4.52 19 Nucleoplasm;Cytosol;Cell membrane NA 0 PE1 NX_Q96F81 170934 1524 6.44 1 Nucleus;Membrane NA 12 PE1 NX_Q96F83 35690 325 5.96 14 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q96F85 18648 164 7.72 2 Cytosol NA 0 PE1 NX_Q96F86 56078 508 6.65 15 Cytosol;P-body Mental retardation, autosomal recessive 50 0 PE1 NX_Q96FA3 46286 418 8.33 2 NA NA 0 PE1 NX_Q96FA7 26352 236 7.05 7 Cytoplasmic vesicle;Nucleus membrane NA 0 PE2 NX_Q96FB5 52981 475 8.22 1 Cytosol;Nucleolus;Membrane NA 1 PE1 NX_Q96FC7 42486 376 5.97 10 Mitochondrion;Cytoplasm;Cytosol NA 0 PE1 NX_Q96FC9 108313 970 7.07 12 Nucleolus;Spindle pole;Midbody;Nucleus;Centrosome;Chromosome Warsaw breakage syndrome 0 PE1 NX_Q96FE5 69876 620 8.86 15 Cell membrane NA 1 PE1 NX_Q96FE7 28248 263 4.92 22 Cell membrane NA 1 PE1 NX_Q96FF7 24028 219 10.92 19 NA NA 0 PE1 NX_Q96FF9 27601 252 9.65 11 Nucleoplasm;Cytoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q96FG2 43046 381 8.11 2 Kinocilium;Mitochondrion;Cytoskeleton;Stereocilium;Nucleoplasm Deafness, autosomal recessive, 88 0 PE1 NX_Q96FH0 13403 119 5.54 19 Nucleoplasm;Cytoplasmic vesicle;Lysosome membrane NA 0 PE1 NX_Q96FI4 43684 390 9.94 15 Nucleoplasm;Nucleus;Centrosome;Chromosome NA 0 PE1 NX_Q96FJ0 49783 436 6.79 10 Cell membrane NA 0 PE1 NX_Q96FJ2 10350 89 6.81 17 Cytoskeleton NA 0 PE1 NX_Q96FK6 43215 387 5.72 14 Cytosol;Cytoskeleton NA 0 PE1 NX_Q96FL8 61922 570 7.53 17 Cell membrane NA 13 PE1 NX_Q96FL9 64321 552 7.84 2 Nucleus;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q96FM1 36475 320 6.84 17 Cytosol;Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell membrane Hyperphosphatasia with mental retardation syndrome 4 7 PE1 NX_Q96FN4 61190 548 5.71 16 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Mitochondrion NA 0 PE1 NX_Q96FN5 70660 646 9.19 9 Nucleoplasm;Cytoskeleton NA 0 PE1 NX_Q96FN9 18660 168 7.71 14 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q96FQ6 11801 103 6.28 1 Cytosol;Cytoplasm;Nucleolus;Cell membrane NA 0 PE1 NX_Q96FQ7 10201 95 7.81 18 NA NA 0 PE5 NX_Q96FS4 112149 1042 6.16 11 Nucleolus;Golgi apparatus;Cell membrane;Endomembrane system;Perinuclear region;Nucleus NA 0 PE1 NX_Q96FT7 70105 647 8.04 2 Membrane NA 2 PE1 NX_Q96FT9 23529 208 4.62 14 Cytoskeleton;Cilium;Microtubule organizing center Short-rib thoracic dysplasia 18 with polydactyly;Retinitis pigmentosa 81;Cranioectodermal dysplasia 3 0 PE1 NX_Q96FV0 35340 321 4.86 17 Cytosol NA 0 PE1 NX_Q96FV2 46597 425 5.44 17 Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q96FV3 30264 270 4.96 5 Nucleoplasm;Membrane NA 4 PE1 NX_Q96FV9 75666 657 4.92 18 Nucleoplasm;Nucleus speckle;Nucleus matrix;Cytoplasm NA 0 PE1 NX_Q96FW1 31284 271 4.85 11 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q96FX2 9240 82 3.94 3 Cytoplasm;Nucleus NA 0 PE1 NX_Q96FX7 31382 289 6.89 14 Nucleus NA 0 PE1 NX_Q96FX8 21386 193 6.68 6 Desmosome;Cell membrane NA 4 PE1 NX_Q96FZ2 40575 354 8.43 3 Nucleus NA 0 PE1 NX_Q96FZ5 18834 175 8.23 3 Cell membrane;Membrane NA 4 PE1 NX_Q96FZ7 23485 201 5.28 17 Endosome membrane;Late endosome membrane;Endomembrane system;Membrane NA 0 PE1 NX_Q96G01 110750 975 5.6 12 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_Q96G03 68283 612 6.28 4 Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q96G04 36915 330 5.7 16 Cytoplasm NA 0 PE1 NX_Q96G21 33757 291 9.49 2 Nucleolus NA 0 PE1 NX_Q96G23 44876 380 9.03 1 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus membrane NA 6 PE1 NX_Q96G25 29080 268 6.92 1 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q96G27 29140 269 5.61 2 Cytosol NA 0 PE1 NX_Q96G28 39447 342 4.93 2 Flagellum;Cytoplasm;Nucleus NA 0 PE1 NX_Q96G30 23548 205 4.92 6 Endoplasmic reticulum membrane;Cell membrane Obesity 1 PE1 NX_Q96G42 63314 594 9.25 22 NA NA 0 PE1 NX_Q96G46 72594 650 8.4 19 Cytosol;Nucleoplasm NA 0 PE1 NX_Q96G61 18559 164 5.73 X Cytoplasm;Nucleus NA 0 PE1 NX_Q96G74 60626 571 6.1 X Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q96G75 44414 393 6.15 5 Cytosol;Nucleoplasm NA 0 PE1 NX_Q96G79 34593 324 9.77 5 Nucleoplasm;Golgi apparatus membrane NA 9 PE2 NX_Q96G91 40345 374 9.35 19 Cell membrane NA 7 PE1 NX_Q96G97 44392 398 5.07 11 Endoplasmic reticulum membrane Congenital generalized lipodystrophy 2;Spastic paraplegia 17, autosomal dominant;Neuronopathy, distal hereditary motor, 5A;Encephalopathy, progressive, with or without lipodystrophy 2 PE1 NX_Q96GA3 54855 475 4.8 6 Cytosol;Nucleoplasm NA 0 PE1 NX_Q96GA7 34674 329 6.41 12 Cytosol NA 0 PE1 NX_Q96GC5 23935 212 9.04 11 Mitochondrion NA 0 PE1 NX_Q96GC6 74177 653 6.3 19 Cytoplasm;Nucleolus;Nucleus;Centrosome NA 0 PE1 NX_Q96GC9 46238 406 6.47 17 Nucleolus;Golgi apparatus;Cytoplasm;Vacuole membrane;Cell membrane;Endoplasmic reticulum;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 7 PE1 NX_Q96GD0 31698 296 6.12 22 Cytosol;Cytoskeleton;Ruffle membrane;Cell membrane;Lamellipodium membrane NA 0 PE1 NX_Q96GD3 73354 660 9.37 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96GD4 39311 344 9.36 17 Nucleoplasm;Nucleus;Spindle;Centromere;Midbody;Chromosome NA 0 PE1 NX_Q96GE4 95297 821 8.76 17 Cytoplasmic vesicle;Nucleoplasm;Spindle;Centrosome;Spindle pole NA 0 PE1 NX_Q96GE5 74288 643 9.29 19 Nucleus NA 0 PE1 NX_Q96GE6 21883 196 7.02 15 Nucleoplasm;Cytosol;Golgi apparatus NA 0 PE1 NX_Q96GE9 12257 116 9.8 9 Mitochondrion inner membrane NA 2 PE1 NX_Q96GF1 20459 192 6.09 22 Endoplasmic reticulum membrane;Mitochondrion outer membrane NA 2 PE1 NX_Q96GG9 30124 259 5.18 3 Cytosol;Nucleus NA 0 PE1 NX_Q96GI7 19569 184 5.64 1 Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q96GJ1 56476 504 9.04 X Nucleoplasm;Nucleus NA 0 PE1 NX_Q96GK7 34596 314 8.48 2 NA NA 0 PE1 NX_Q96GL9 17641 167 5.56 1 Membrane NA 1 PE2 NX_Q96GM1 36880 343 9.64 19 Nucleoplasm;Membrane NA 6 PE1 NX_Q96GM5 58233 515 9.31 12 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_Q96GM8 56548 510 6.76 1 Nucleoplasm;Nucleus speckle;Nucleolus;Nucleus Pontocerebellar hypoplasia 7 0 PE1 NX_Q96GN5 52206 454 5.59 7 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q96GP6 92479 870 8.89 22 Cytosol;Nucleoplasm;Nucleus;Membrane Van den Ende-Gupta syndrome 1 PE1 NX_Q96GQ5 51018 468 6.47 16 Nucleolus;Golgi apparatus;Cytosol;Cytoplasmic vesicle;Nucleoplasm;Membrane NA 1 PE1 NX_Q96GQ7 89835 796 9.33 20 Nucleolus;Chromosome NA 0 PE1 NX_Q96GR2 81290 724 5.73 15 Cytoplasmic vesicle;Cytoplasm;Microsome;Endoplasmic reticulum NA 0 PE1 NX_Q96GR4 30813 267 6.75 9 Nucleoplasm;Membrane NA 4 PE1 NX_Q96GS4 37226 357 5.56 17 Cytosol;Lysosome membrane;Centrosome NA 0 PE1 NX_Q96GS6 33990 310 6.39 19 Cytoplasmic vesicle;Postsynaptic density;Endosome membrane;Cell membrane;Dendritic spine NA 0 PE1 NX_Q96GT9 12354 111 5.12 X NA NA 0 PE1 NX_Q96GU1 14046 130 4.27 X Mitochondrion NA 0 PE1 NX_Q96GV9 23083 206 9.51 5 Cytoplasm;Cilium NA 0 PE1 NX_Q96GW7 99118 911 4.57 1 Membrane;Extracellular matrix NA 0 PE1 NX_Q96GW9 66591 593 8.38 2 Cytosol;Mitochondrion matrix;Cytoskeleton Spastic ataxia 3, autosomal recessive;Combined oxidative phosphorylation deficiency 25 0 PE1 NX_Q96GX1 76871 697 5.09 12 Cytoplasmic vesicle;Cilium basal body;Golgi apparatus;Membrane Joubert syndrome 24;Meckel syndrome 8 1 PE1 NX_Q96GX2 10771 97 4.27 12 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q96GX5 97319 879 5.67 10 Nucleoplasm;Nucleus;Centrosome;Cleavage furrow NA 0 PE1 NX_Q96GX8 8118 76 4.13 16 Centrosome;Cell membrane NA 0 PE1 NX_Q96GX9 27125 242 6.7 11 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 NX_Q96GY0 35092 325 9.86 8 Cytosol;Cytoskeleton NA 0 PE1 NX_Q96GY3 28383 246 8.93 19 Nucleoplasm NA 0 PE1 NX_Q96GZ6 54767 507 7.97 3 Cell membrane;Endoplasmic reticulum NA 10 PE1 NX_Q96H12 32363 275 8.58 9 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q96H15 41578 378 5.75 5 Membrane NA 1 PE1 NX_Q96H20 28864 258 6.2 17 Cytosol;Cytoplasm;Endosome membrane;Nucleoplasm;Late endosome membrane;Nucleus NA 0 PE1 NX_Q96H22 39555 339 9.18 16 Kinetochore;Nucleus NA 0 PE1 NX_Q96H35 21649 190 9.46 9 Nucleolus;Nucleus;Midbody NA 0 PE1 NX_Q96H40 53631 463 9.27 19 Nucleus NA 0 PE1 NX_Q96H55 109135 970 7.87 17 Cytosol;Cytoskeleton;Mitochondrion outer membrane NA 0 PE1 NX_Q96H72 39011 371 5.21 11 Cytosol;Golgi apparatus membrane Ehlers-Danlos syndrome, spondylodysplastic type, 3 8 PE1 NX_Q96H78 35392 314 9.64 1 Mitochondrion;Nucleus;Mitochondrion inner membrane NA 6 PE1 NX_Q96H79 32962 300 8.5 7 Cytosol NA 0 PE1 NX_Q96H86 44943 408 9.19 16 Cytosol;Nucleus NA 0 PE1 NX_Q96H96 40489 371 9.27 4 Cytosol;Mitochondrion inner membrane Multiple system atrophy 1;Coenzyme Q10 deficiency, primary, 1 9 PE1 NX_Q96HA1 127720 1249 10.58 7 Endoplasmic reticulum membrane;Nuclear pore complex;Nucleus membrane NA 1 PE1 NX_Q96HA4 40283 380 10.07 1 Cytosol;Nucleolus;Membrane NA 1 PE1 NX_Q96HA7 150929 1378 5.99 8 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q96HA8 23680 205 5.46 8 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q96HA9 26636 241 9.35 19 Peroxisome membrane NA 2 PE1 NX_Q96HB5 67567 630 9.51 X Endosome;Cytoplasm;Centriole;Mitochondrion;Cell projection;Growth cone NA 0 PE1 NX_Q96HC4 63945 596 8.55 4 Synaptosome;Nucleoplasm;Cytoplasm;Cell membrane;Focal adhesion;Postsynaptic density NA 0 PE1 NX_Q96HD1 45440 420 4.81 3 Cytosol;Nucleolus;Endoplasmic reticulum;Golgi apparatus;Membrane Atrioventricular septal defect 2 2 PE1 NX_Q96HD9 35241 319 5.57 11 Cytoplasm;Apical cell membrane NA 0 PE1 NX_Q96HE7 54393 468 5.48 14 Endoplasmic reticulum membrane NA 0 PE1 NX_Q96HE8 23077 216 10.55 11 Cilium;Golgi apparatus;Membrane NA 4 PE2 NX_Q96HE9 40085 360 10.13 17 Cytoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q96HF1 33490 295 7.41 4 Cytoskeleton;Secreted NA 0 PE1 NX_Q96HG1 9236 83 10.36 X Membrane NA 1 PE1 NX_Q96HH4 33611 297 4.76 2 Cytosol;Nucleoplasm;Centrosome;Membrane NA 2 PE1 NX_Q96HH6 36392 336 8.73 12 Membrane NA 6 PE1 NX_Q96HH9 47869 432 8 5 Cytosol;Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q96HI0 86693 755 9.3 3 Nucleolus NA 0 PE1 NX_Q96HJ3 43225 373 7.06 11 Nucleolus;Nucleus membrane NA 0 PE1 NX_Q96HJ5 22933 214 5.18 11 Perinuclear region;Endomembrane system NA 4 PE1 NX_Q96HJ9 12749 113 10.08 7 Mitochondrion NA 0 PE1 NX_Q96HL8 37148 342 9.18 2 Nucleus NA 0 PE1 NX_Q96HM7 49727 432 9.58 12 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_Q96HN2 66721 611 7.13 7 Nucleoplasm;Cytoplasm;Cytosol;Microsome NA 0 PE1 NX_Q96HP0 229558 2047 6.28 19 Cytosol;Cytoplasm;Perinuclear region Adams-Oliver syndrome 2 0 PE1 NX_Q96HP4 34854 312 8.68 3 Nucleus NA 0 PE1 NX_Q96HP8 26116 235 8.83 7 Mitochondrion;Membrane NA 4 PE1 NX_Q96HQ0 58564 510 9.22 19 Nucleus NA 0 PE1 NX_Q96HQ2 13196 116 4.87 5 NA NA 0 PE1 NX_Q96HR3 20277 178 8.45 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96HR8 53717 494 4.76 4 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q96HR9 23418 211 8.74 19 Endoplasmic reticulum membrane;Endoplasmic reticulum Retinitis pigmentosa 77 2 PE1 NX_Q96HS1 32004 289 8.88 12 Mitochondrion;Mitochondrion outer membrane NA 1 PE1 NX_Q96HT8 14808 127 4.46 4 NA NA 0 PE1 NX_Q96HU1 85354 749 5.66 22 Cytoplasm;Golgi apparatus NA 0 PE1 NX_Q96HU8 22485 199 8.98 9 Cell membrane NA 0 PE1 NX_Q96HV5 29665 264 9.23 3 Nucleoplasm;Cytosol;Golgi apparatus;Membrane NA 5 PE1 NX_Q96HW7 108171 963 6 11 Nucleolus;Nucleus NA 0 PE1 NX_Q96HY6 35611 314 5.12 20 Nucleolus;Endoplasmic reticulum Spondyloepimetaphyseal dysplasia, Shohat type 0 PE1 NX_Q96HY7 103077 919 6.46 10 Mitochondrion 2-aminoadipic 2-oxoadipic aciduria;Charcot-Marie-Tooth disease 2Q 0 PE1 NX_Q96HZ4 24129 224 5.18 2 Cytosol;Nucleolus;Nucleus NA 0 PE2 NX_Q96HZ7 6513 61 12.37 21 NA NA 0 PE5 NX_Q96I13 47331 439 6.54 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96I15 48149 445 6.63 2 Cytosol;Golgi apparatus NA 0 PE1 NX_Q96I23 12655 114 9.45 4 Mitochondrion;Nucleoplasm NA 0 PE1 NX_Q96I24 61640 572 8.6 9 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q96I25 44962 401 5.76 10 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96I27 34746 306 9.21 19 Mitochondrion;Nucleus NA 0 PE1 NX_Q96I34 57811 528 5.68 8 Cell membrane NA 0 PE1 NX_Q96I36 6600 57 9.58 12 Mitochondrion;Mitochondrion membrane NA 1 PE1 NX_Q96I45 11875 108 8.69 9 Mitochondrion;Cell junction;Membrane NA 2 PE1 NX_Q96I51 49997 464 8.74 7 Mitochondrion;Cytosol;Nucleus;Mitochondrion inner membrane;Mitochondrion membrane NA 0 PE1 NX_Q96I59 54090 477 6.79 11 Mitochondrion matrix;Nucleoplasm;Mitochondrion;Cytosol Leigh syndrome;Combined oxidative phosphorylation deficiency 24 0 PE1 NX_Q96I76 59338 525 4.93 1 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q96I82 32945 304 4.67 10 Extracellular matrix NA 0 PE1 NX_Q96I85 5742 54 4.96 14 Secreted NA 0 PE3 NX_Q96I99 46511 432 6.15 3 Mitochondrion;Cell membrane NA 0 PE1 NX_Q96IC2 86886 774 8.64 16 Nucleolus;Nucleus;Nucleus membrane;Endoplasmic reticulum NA 0 PE1 NX_Q96ID5 51835 467 6.48 1 Postsynaptic cell membrane NA 0 PE1 NX_Q96IF1 56934 538 6.86 14 P-body;Golgi apparatus;Cell membrane;Centrosome;Nucleus;Cytoskeleton;Cell junction NA 0 PE1 NX_Q96IG2 48423 436 7.65 17 Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q96II8 86083 777 6.25 3 Cytosol;Secreted NA 0 PE1 NX_Q96IJ6 46291 420 6.73 2 Nucleoplasm;Cytoplasm Alacrima, achalasia, and mental retardation syndrome 0 PE1 NX_Q96IK0 28795 257 9.62 17 Nucleoplasm;Cell membrane;Membrane NA 8 PE1 NX_Q96IK1 19196 185 5.89 5 Kinetochore;Centrosome NA 0 PE1 NX_Q96IK5 58685 515 7.42 2 Nucleus matrix NA 0 PE1 NX_Q96IL0 24153 206 9.99 14 Mitochondrion NA 0 PE1 NX_Q96IM9 20586 177 5.46 10 NA NA 0 PE1 NX_Q96IP4 49666 442 5.03 6 NA Osteogenesis imperfecta 18 0 PE1 NX_Q96IQ7 34348 327 7.5 11 Nucleoplasm;Membrane NA 1 PE1 NX_Q96IQ9 32782 312 8.02 19 Cytosol;Nucleus NA 0 PE1 NX_Q96IR2 113133 970 9.47 19 Nucleus NA 0 PE1 NX_Q96IR3 4679 41 5.05 22 NA NA 0 PE5 NX_Q96IR7 39386 371 6.55 1 Mitochondrion NA 0 PE1 NX_Q96IS3 20086 184 9.45 19 Nucleus Macular degeneration, age-related, 6;Cone-rod dystrophy 11 0 PE1 NX_Q96IT1 66908 587 5.48 1 Nucleus;Golgi apparatus NA 0 PE1 NX_Q96IT6 6106 56 10.42 14 NA NA 0 PE5 NX_Q96IU2 25132 234 8.65 5 Nucleoplasm;Cytoplasm;Cell membrane;Membrane NA 0 PE1 NX_Q96IU4 22346 210 5.94 3 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q96IV0 74390 654 6.47 3 Cytoplasm Congenital disorder of deglycosylation 0 PE1 NX_Q96IV6 39002 333 9.01 5 Membrane NA 5 PE1 NX_Q96IW2 38264 340 4.88 19 Cytosol;Microtubule organizing center NA 0 PE1 NX_Q96IW7 34948 307 8.57 3 Endoplasmic reticulum membrane NA 4 PE1 NX_Q96IX5 6458 58 9.78 10 Mitochondrion;Mitochondrion membrane NA 1 PE1 NX_Q96IX9 14172 119 9.1 1 NA NA 0 PE5 NX_Q96IY1 32162 281 6.35 1 Kinetochore;Nucleoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q96IY4 48424 423 7.61 13 Secreted NA 0 PE1 NX_Q96IZ0 36568 340 5.35 12 Cytoplasm;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 NX_Q96IZ2 26842 230 9.74 6 Nucleolus;Cell membrane NA 6 PE1 NX_Q96IZ5 47100 413 8.85 X Cytosol;Cytoplasm;Nucleus speckle NA 0 PE1 NX_Q96IZ6 43537 378 5.69 17 NA NA 0 PE1 NX_Q96IZ7 38677 334 11.08 3 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q96J01 38772 351 5.7 5 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_Q96J02 102803 903 5.94 20 Nucleoplasm;Cytoplasm;Early endosome membrane;Cell membrane;Endosome membrane;Nucleus Autoimmune disease, multisystem, with facial dysmorphism 0 PE1 NX_Q96J42 39885 360 4.77 5 Golgi apparatus;Membrane NA 1 PE1 NX_Q96J65 152297 1359 8.64 16 Membrane NA 10 PE1 NX_Q96J66 154301 1382 8.39 16 Cytoplasmic vesicle membrane;Vacuole membrane;Cell membrane NA 10 PE1 NX_Q96J77 15503 140 9.96 9 NA NA 0 PE1 NX_Q96J84 83536 757 5.49 1 Cell membrane NA 1 PE1 NX_Q96J86 16626 154 8.28 21 Nucleoplasm;Membrane NA 1 PE2 NX_Q96J87 50477 481 8.87 15 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q96J88 36793 318 9.9 13 Cytosol NA 0 PE1 NX_Q96J92 134739 1243 5.36 17 Tight junction Pseudohypoaldosteronism 2B 0 PE1 NX_Q96J94 98603 861 9.5 12 Cytoplasm NA 0 PE1 NX_Q96JA1 119113 1093 6.66 3 Cytosol;Cell membrane NA 1 PE1 NX_Q96JA3 58261 519 5.03 7 trans-Golgi network membrane;Membrane NA 0 PE1 NX_Q96JA4 76580 679 5.39 11 Membrane NA 4 PE2 NX_Q96JB1 514664 4490 5.95 6 Cilium axoneme NA 0 PE1 NX_Q96JB2 94096 828 5.39 13 Cytosol;Nucleoplasm;Cell membrane;Golgi apparatus;Golgi stack membrane NA 0 PE1 NX_Q96JB3 66156 615 5.95 22 Nucleus NA 0 PE1 NX_Q96JB5 56921 506 4.68 17 Cytosol;Cytoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q96JB6 84483 756 7.32 10 Cytoplasmic vesicle;Extracellular space NA 0 PE1 NX_Q96JB8 72779 637 5.4 2 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q96JC1 101809 886 6.53 15 Lysosome membrane;Cytoplasm;Late endosome membrane;Late endosome;Lysosome NA 0 PE1 NX_Q96JC4 60598 524 9.21 7 Nucleus NA 0 PE2 NX_Q96JC9 29042 268 5.24 3 Cajal body;Nucleus speckle;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Cytoskeleton NA 0 PE1 NX_Q96JD6 36589 320 7.19 10 Nucleoplasm;Cytoplasm;Golgi apparatus NA 0 PE1 NX_Q96JE7 116604 1060 5.71 1 Endoplasmic reticulum membrane;Cytoskeleton;Golgi apparatus membrane;Endoplasmic reticulum;Cell membrane NA 0 PE1 NX_Q96JE9 86505 813 9.2 11 Golgi apparatus;Cell membrane;Axon;Dendrite;Cytoskeleton;Secretory vesicle membrane NA 0 PE1 NX_Q96JF0 60158 529 9.77 2 Golgi stack membrane;Nucleolus;Nucleus NA 1 PE1 NX_Q96JF6 93907 807 9.01 17 Nucleus NA 0 PE1 NX_Q96JG6 111174 964 5.85 7 Cytosol;Recycling endosome;Cell membrane NA 0 PE1 NX_Q96JG8 81378 741 6.34 X NA NA 0 PE1 NX_Q96JG9 410202 3925 7.88 16 Cytoplasmic vesicle;Nucleus Brittle cornea syndrome 1 0 PE1 NX_Q96JH7 134321 1222 6.77 8 Cytoplasm;Golgi stack;Endoplasmic reticulum;Cell membrane NA 0 PE1 NX_Q96JH8 117455 1075 6.67 7 Nucleus;Nucleus membrane NA 0 PE1 NX_Q96JI7 278868 2443 5.63 15 Nucleolus;Cytosol;Cell membrane;Axon;Dendrite;Nucleus Charcot-Marie-Tooth disease 2X;Amyotrophic lateral sclerosis 5, juvenile;Spastic paraplegia 11, autosomal recessive 0 PE1 NX_Q96JJ3 82615 720 5.62 20 Cytosol;Cytoplasm;Membrane Vascular malformation, primary intraosseous 0 PE1 NX_Q96JJ6 65861 628 6.39 14 Cytosol;Nucleoplasm;Endoplasmic reticulum membrane;Cell membrane NA 1 PE1 NX_Q96JJ7 51872 454 4.8 18 Endoplasmic reticulum membrane NA 1 PE1 NX_Q96JK2 103963 942 5.48 14 Mitochondrion NA 0 PE1 NX_Q96JK4 86731 782 7.69 14 Secreted NA 0 PE1 NX_Q96JK9 122293 1138 7.12 4 Nucleus speckle NA 0 PE1 NX_Q96JL9 75544 665 8.27 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96JM2 284688 2506 7.53 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96JM3 89099 812 8.7 13 Nucleoplasm;Kinetochore;Spindle;Nucleus;Chromosome Mental retardation, autosomal dominant 40 0 PE1 NX_Q96JM4 199300 1722 5.85 12 NA NA 0 PE1 NX_Q96JM7 88337 780 6.02 6 Nucleolus;Nucleus NA 0 PE1 NX_Q96JN0 47007 433 9.39 10 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96JN2 134045 1154 4.63 7 Acrosome membrane;Nucleolus NA 1 PE1 NX_Q96JN8 166907 1562 5.57 17 Centriole NA 0 PE1 NX_Q96JP0 68673 617 7.6 5 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q96JP2 167088 1530 8.75 17 Cytoplasm NA 0 PE1 NX_Q96JP5 63445 570 7.02 11 Nucleolus;Nucleus NA 0 PE1 NX_Q96JP9 93595 859 5.34 10 Cell membrane Cone-rod dystrophy 15 1 PE1 NX_Q96JQ0 346181 3298 4.79 11 Cell membrane Mitral valve prolapse 2;Van Maldergem syndrome 1 1 PE1 NX_Q96JQ2 111651 1002 4.84 14 Cytosol;Nucleus;Membrane NA 1 PE1 NX_Q96JQ5 25441 239 7.63 11 Membrane NA 4 PE2 NX_Q96JS3 92515 809 5.45 6 Cytosol;Nucleoplasm NA 0 PE1 NX_Q96JT2 59323 553 7.44 1 Nucleoplasm;Cytoplasmic vesicle;Membrane NA 11 PE1 NX_Q96JW4 62473 573 5.69 12 Cell membrane;Endoplasmic reticulum NA 11 PE1 NX_Q96JX3 74147 654 7.59 6 Mitochondrion;Endoplasmic reticulum;Membrane 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 PE1 NX_Q96JY0 49219 434 8.94 1 Cytoplasm;Nucleus NA 0 PE1 NX_Q96JY6 37459 352 9 8 Cytoplasm;Cytoskeleton;Nucleus;Focal adhesion NA 0 PE1 NX_Q96JZ2 39002 352 6.64 19 Cytosol;Cytoplasm;Focal adhesion;Nucleus;Cell membrane NA 0 PE1 NX_Q96K12 59438 515 9.44 12 Nucleolus;Peroxisome membrane;Golgi apparatus NA 1 PE1 NX_Q96K17 17271 158 5.95 1 Cytosol;Nucleus NA 0 PE1 NX_Q96K19 29815 258 5.34 8 Endoplasmic reticulum membrane;Endoplasmic reticulum Ataxia, sensory, 1, autosomal dominant 3 PE1 NX_Q96K21 51546 471 5.57 15 Midbody ring;Centrosome;Cleavage furrow NA 0 PE1 NX_Q96K30 28619 269 11.07 12 Cytoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q96K31 43273 380 5.31 8 NA NA 0 PE1 NX_Q96K37 44773 410 9.82 19 Golgi apparatus;Membrane NA 9 PE1 NX_Q96K49 63536 555 7.16 2 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus NA 7 PE1 NX_Q96K58 67890 619 9.2 16 Nucleolus;Nucleus NA 0 PE1 NX_Q96K62 54008 511 6.44 19 Cytosol;Nucleus NA 0 PE1 NX_Q96K75 45938 400 9.13 2 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96K76 157311 1375 4.97 11 Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q96K78 88909 797 8.77 3 Membrane NA 7 PE1 NX_Q96K80 46052 434 7.58 12 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q96K83 147866 1311 6.56 18 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96KA5 62229 538 8.71 5 Endoplasmic reticulum;Membrane NA 6 PE1 NX_Q96KB5 36085 322 4.98 8 Cytosol NA 0 PE1 NX_Q96KC2 20375 179 6.06 10 NA NA 0 PE1 NX_Q96KC8 63883 554 8.77 10 Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum;Nucleus membrane NA 1 PE1 NX_Q96KC9 43003 395 4.07 4 Mitochondrion;Cytoplasm;Flagellum NA 0 PE1 NX_Q96KD3 38946 344 9.51 7 Cytosol NA 0 PE2 NX_Q96KE9 53411 485 5.87 14 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q96KF2 5959 57 9.9 17 Nucleus NA 0 PE2 NX_Q96KF7 11059 97 9.3 6 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q96KG7 122205 1140 6.5 5 Phagocytic cup;Cell membrane Myopathy, early-onset, areflexia, respiratory distress, and dysphagia 1 PE1 NX_Q96KG9 89631 808 5.93 11 Endoplasmic reticulum-Golgi intermediate compartment;Cytosol;Cytoplasm;cis-Golgi network;Nucleus;Centrosome Spinocerebellar ataxia, autosomal recessive, 21 0 PE1 NX_Q96KH6 19680 178 6.12 18 NA NA 0 PE2 NX_Q96KJ4 74540 702 6.71 16 Membrane NA 1 PE3 NX_Q96KJ9 20010 171 9.65 20 Mitochondrion inner membrane Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis 0 PE1 NX_Q96KK3 58372 526 6.71 20 Cell membrane NA 6 PE1 NX_Q96KK4 34384 312 8.64 6 Cell membrane NA 7 PE2 NX_Q96KK5 13906 128 10.88 6 Nucleus;Chromosome NA 0 PE1 NX_Q96KM6 97264 892 9.87 20 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96KN1 34474 310 5.34 8 Nucleoplasm NA 0 PE1 NX_Q96KN2 56706 507 5.14 18 Secreted NA 0 PE1 NX_Q96KN3 52028 472 4.76 11 Cytoskeleton;Nucleus NA 0 PE1 NX_Q96KN4 32491 292 5.46 2 Nucleus NA 0 PE1 NX_Q96KN7 146682 1286 5.47 14 Cilium Cone-rod dystrophy 13;Leber congenital amaurosis 6 0 PE1 NX_Q96KN8 30312 279 8.33 11 NA NA 0 PE1 NX_Q96KN9 40140 370 9.26 10 Gap junction;Cell membrane NA 4 PE2 NX_Q96KP1 104066 924 6.46 6 Cytoplasmic vesicle;Midbody ring NA 0 PE1 NX_Q96KP4 52878 475 5.66 18 Cytosol;Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q96KP6 38943 325 7.56 4 NA NA 0 PE1 NX_Q96KQ4 119565 1090 6.33 14 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q96KQ7 132370 1210 5.3 6 Nucleoplasm;Nucleus speckle;Nucleus;Chromosome NA 0 PE1 NX_Q96KR1 117012 1074 9.17 5 Nucleoplasm;Cytoplasm;Nucleus;Chromosome;Cytoplasmic granule NA 0 PE1 NX_Q96KR4 73568 655 6.5 3 Cytosol;Cytoplasm;Focal adhesion;Lipid droplet NA 0 PE1 NX_Q96KR6 20424 192 10.45 20 Mitochondrion;Cytosol;Cell membrane;Mitochondrion outer membrane NA 2 PE1 NX_Q96KR7 62552 559 9.27 20 Nucleoplasm;Nucleus matrix NA 0 PE1 NX_Q96KS0 43650 407 8.18 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96KS9 24182 214 5.93 8 Mitochondrion NA 0 PE1 NX_Q96KT0 11632 104 9.8 8 NA NA 0 PE4 NX_Q96KT6 9816 92 8.81 8 NA NA 0 PE5 NX_Q96KT7 35161 338 6.68 8 Membrane NA 9 PE2 NX_Q96KV6 65713 586 5.48 6 Membrane NA 1 PE5 NX_Q96KV7 187437 1748 6.56 16 Centriole;Nucleus speckle NA 0 PE1 NX_Q96KW2 109912 1035 9.92 6 NA NA 0 PE1 NX_Q96KW9 21466 195 4.71 13 Acrosome lumen;Acrosome;Secreted NA 0 PE1 NX_Q96KX0 16433 146 8.6 3 Flagellum;Acrosome;Secreted NA 0 PE1 NX_Q96KX1 13276 117 9.54 4 Cytosol;Focal adhesion NA 0 PE2 NX_Q96KX2 35025 299 7.61 12 NA NA 0 PE1 NX_Q96L03 43499 361 9.87 1 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q96L08 27119 255 10.24 9 Nucleus;Cell membrane NA 1 PE1 NX_Q96L11 13527 122 5.89 7 Secreted NA 0 PE2 NX_Q96L12 44996 384 6.19 19 Endoplasmic reticulum lumen Cardiomyopathy, familial hypertrophic 19 0 PE1 NX_Q96L14 32648 293 5.45 4 NA NA 0 PE5 NX_Q96L15 32054 291 8.52 11 Secreted NA 0 PE1 NX_Q96L21 24519 214 10.03 14 Nucleus NA 0 PE1 NX_Q96L33 26217 236 8.36 15 Endosome membrane;Cell membrane NA 0 PE1 NX_Q96L34 82520 752 9.7 19 Cytosol;Cytoplasm;Microtubule organizing center;Dendrite;Cilium axoneme;Centrosome;Cilium basal body NA 0 PE1 NX_Q96L42 123804 1107 6.46 3 Cell membrane;Membrane NA 6 PE2 NX_Q96L46 27660 248 5.51 16 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q96L50 46723 414 9.27 14 Cytoplasmic vesicle;Nucleoplasm;Nucleus membrane NA 0 PE1 NX_Q96L58 37138 329 9.72 1 Golgi stack membrane Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures;Ehlers-Danlos syndrome, spondylodysplastic type, 2 1 PE1 NX_Q96L73 296652 2696 8.4 5 Nucleus;Chromosome;Cell membrane Sotos syndrome 1;Beckwith-Wiedemann syndrome 0 PE1 NX_Q96L91 343489 3159 9.27 12 Nucleus NA 0 PE1 NX_Q96L92 61265 541 6.06 1 Nucleoplasm;Cytosol;Early endosome membrane NA 0 PE1 NX_Q96L93 152011 1317 5.86 20 Mitochondrion;Cytoskeleton;Early endosome membrane NA 0 PE1 NX_Q96L94 22068 193 9.6 15 Nucleoplasm;Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA 0 PE1 NX_Q96L96 201272 1907 7.73 15 Nucleus Cardiomyopathy, familial hypertrophic 27 0 PE1 NX_Q96LA5 55542 508 5.98 1 Cell membrane NA 1 PE1 NX_Q96LA6 46936 429 5.32 1 Cell membrane NA 1 PE1 NX_Q96LA8 41938 375 5.32 1 Nucleolus;Nucleus NA 0 PE1 NX_Q96LA9 36461 322 9 11 Cell membrane NA 7 PE2 NX_Q96LB0 36483 322 8.79 11 Cell membrane NA 7 PE2 NX_Q96LB1 37099 330 8.36 11 Cell membrane NA 7 PE1 NX_Q96LB2 36250 322 7.5 11 Cell membrane NA 7 PE1 NX_Q96LB3 69239 600 5.73 9 Cytoplasmic vesicle;Cilium;Golgi apparatus Bardet-Biedl syndrome 20 0 PE1 NX_Q96LB4 13917 118 9.16 1 NA NA 0 PE1 NX_Q96LB8 40620 373 7.2 1 Cytoplasmic vesicle;Cell membrane;Secreted NA 0 PE1 NX_Q96LB9 37611 341 6.48 1 Secreted NA 0 PE1 NX_Q96LC7 76592 697 8.69 19 Cytosol;Cytoskeleton;Cell membrane;Secreted NA 1 PE1 NX_Q96LC9 20508 184 4.91 15 Nucleoplasm NA 0 PE1 NX_Q96LD1 32949 299 7.59 8 Cytoskeleton;Sarcolemma NA 1 PE1 NX_Q96LD4 69532 638 6.03 17 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q96LD8 24107 212 5.6 15 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 NX_Q96LI5 63001 555 6.26 4 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q96LI6 45107 401 6.68 Y Cytoplasm;Nucleus NA 0 PE1 NX_Q96LI9 38899 332 10.19 X NA NA 0 PE2 NX_Q96LJ7 33909 313 8.01 14 Cytosol;Nucleus;Centrosome;Endoplasmic reticulum NA 0 PE1 NX_Q96LJ8 30811 280 8.87 1 Nucleoplasm;Cilium;Cell membrane;Cell junction NA 0 PE1 NX_Q96LK0 19166 163 5.24 3 Centriole;Centrosome;Spindle pole;Cilium basal body Morbid obesity and spermatogenic failure 0 PE1 NX_Q96LK8 42325 384 4.7 17 NA NA 0 PE1 NX_Q96LL3 14383 132 9.23 16 Membrane NA 1 PE2 NX_Q96LL4 36790 319 8.84 8 Nucleoplasm;Cytosol NA 0 PE1 NX_Q96LL9 25961 226 10.49 7 Mitochondrion inner membrane NA 1 PE1 NX_Q96LM1 14531 132 9.93 12 NA NA 0 PE5 NX_Q96LM5 21723 186 9.97 4 NA NA 0 PE1 NX_Q96LM6 20615 180 7.14 2 Cytoplasm;Nucleus NA 0 PE1 NX_Q96LM9 16552 149 6.25 20 NA NA 0 PE2 NX_Q96LP2 52032 452 9.15 5 NA NA 0 PE1 NX_Q96LP6 39738 360 9.69 12 NA NA 0 PE2 NX_Q96LQ0 49440 422 9.41 14 NA NA 0 PE1 NX_Q96LR2 25806 239 4.74 1 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q96LR4 15682 140 9.24 3 Secreted NA 0 PE1 NX_Q96LR5 22255 201 7.59 3 Nucleoplasm NA 0 PE1 NX_Q96LR7 17838 162 9.51 2 NA NA 0 PE1 NX_Q96LR9 30546 279 10.45 12 Nucleoplasm;Cytosol;Cell membrane NA 3 PE2 NX_Q96LS8 17367 159 9.49 2 NA NA 0 PE2 NX_Q96LT4 48321 415 8.35 10 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 6 PE1 NX_Q96LT6 29561 269 5.41 1 Cytosol;Cell membrane NA 0 PE2 NX_Q96LT7 54328 481 5.82 9 Endosome;P-body;Perikaryon;Nucleus membrane;Secreted;Stress granule;Cytoplasm;Lysosome;Axon;Dendrite;Nucleus;Autophagosome;Growth cone Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 0 PE1 NX_Q96LT9 58575 517 7.61 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96LU5 18504 166 8.29 11 Mitochondrion inner membrane NA 0 PE1 NX_Q96LU7 101670 910 6.4 12 Nucleolus;Membrane NA 1 PE2 NX_Q96LW1 70529 612 9.6 5 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96LW2 46191 410 6.87 17 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA 0 PE2 NX_Q96LW4 64412 560 5.19 4 Cytosol;Cytoplasm;Mitochondrion matrix;Nucleus;Nucleoplasm Myopia 22, autosomal dominant 0 PE1 NX_Q96LW7 25589 228 9.43 9 Mitochondrion;Endoplasmic reticulum membrane;Nucleus;Mitochondrion membrane NA 0 PE1 NX_Q96LW9 47293 406 6.42 6 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q96LX7 67721 622 6.76 1 NA NA 0 PE1 NX_Q96LX8 48076 424 6.29 16 Nucleolus;Nucleus NA 0 PE1 NX_Q96LY2 41826 380 10.46 2 NA NA 0 PE2 NX_Q96LZ2 38971 347 5.74 X NA NA 0 PE1 NX_Q96LZ3 19533 170 4.73 9 NA NA 0 PE1 NX_Q96LZ7 47399 410 6.12 2 Golgi apparatus;Cytosol;Cytoplasm;Membrane;Spindle;Spindle pole NA 1 PE1 NX_Q96M02 77910 699 9.21 10 Cytosol;Cytoplasm;Centrosome;Cell membrane;Nucleoplasm NA 0 PE1 NX_Q96M11 34359 299 6.98 11 Cytosol;Cytoplasm;Cell membrane;Centrosome;Centriole;Cilium Hydrolethalus syndrome 1 0 PE1 NX_Q96M15 15995 143 9.42 3 NA NA 0 PE2 NX_Q96M19 18185 166 10.52 12 Membrane NA 3 PE5 NX_Q96M20 67512 576 9.33 20 Cytosol NA 0 PE1 NX_Q96M27 46701 445 5.56 5 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_Q96M29 56294 485 6.8 16 Cytoskeleton;Flagellum NA 0 PE1 NX_Q96M32 82658 723 4.67 14 Cytosol;Flagellum Spermatogenic failure 27 0 PE1 NX_Q96M34 60162 536 5.51 3 NA NA 0 PE1 NX_Q96M42 15208 142 8.28 21 NA NA 0 PE5 NX_Q96M43 72053 638 4.83 1 Cytoplasm NA 0 PE2 NX_Q96M53 39460 351 9.21 10 Cytosol NA 0 PE2 NX_Q96M60 59956 508 9 15 Nucleus speckle NA 0 PE2 NX_Q96M61 38533 343 6.81 X Cytoplasm NA 0 PE1 NX_Q96M63 75046 670 5.87 19 Cilium Ciliary dyskinesia, primary, 20 0 PE1 NX_Q96M66 20693 194 9.73 16 NA NA 0 PE2 NX_Q96M69 93618 825 6 7 Cytoskeleton;Acrosome;Cilium basal body NA 0 PE1 NX_Q96M78 15528 137 6.44 8 NA NA 0 PE2 NX_Q96M83 157448 1385 7.16 10 Cytosol;Spindle;Nucleolus NA 0 PE1 NX_Q96M85 19601 177 9.71 22 NA NA 0 PE2 NX_Q96M86 533644 4753 6.25 11 Nucleoplasm;Cytoskeleton NA 0 PE1 NX_Q96M89 76219 665 8.75 2 Cytosol;Nucleus NA 0 PE1 NX_Q96M91 61835 514 9 18 Cilium;Midbody Heterotaxy, visceral, 6, autosomal 0 PE1 NX_Q96M93 64411 576 9.14 4 Nucleus NA 0 PE1 NX_Q96M94 69775 604 5.98 X Cytosol;Nucleus Mental retardation, X-linked 103 0 PE1 NX_Q96M95 38019 316 9.18 17 NA NA 0 PE1 NX_Q96M96 86626 766 5.8 12 Cytoskeleton;Filopodium Charcot-Marie-Tooth disease 4H 0 PE1 NX_Q96M98 33342 296 8.42 6 NA NA 0 PE1 NX_Q96MA1 36205 342 6.6 1 Nucleus NA 0 PE1 NX_Q96MA6 54926 479 5.77 9 Cytosol NA 0 PE1 NX_Q96MB7 39146 349 5.28 11 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q96MC2 87134 740 5.3 2 Flagellum axoneme;Cilium axoneme Ciliary dyskinesia, primary, 21 0 PE1 NX_Q96MC4 69839 621 9.65 17 Cytoplasmic vesicle;Cilium NA 0 PE1 NX_Q96MC5 23732 204 5.93 16 Cytosol;Nucleoplasm NA 0 PE1 NX_Q96MC6 53027 490 8.63 1 Cytoplasmic vesicle;Membrane NA 12 PE1 NX_Q96MC9 29841 270 10.45 1 NA NA 0 PE2 NX_Q96MD2 50415 445 8.95 12 Cytoskeleton;Lysosome membrane;Spindle NA 0 PE1 NX_Q96MD7 20166 179 9.54 9 Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 NX_Q96ME1 88341 805 8.73 7 Nucleoplasm;Cytosol NA 0 PE1 NX_Q96ME7 64682 567 9.8 2 Nucleus NA 0 PE1 NX_Q96MF0 14640 132 8.82 15 NA NA 0 PE5 NX_Q96MF2 41507 364 6.5 12 Nucleoplasm;Cytosol;Sarcolemma;Cytoplasm Native American myopathy 0 PE1 NX_Q96MF4 18252 163 10.64 2 NA NA 0 PE2 NX_Q96MF6 27686 247 9.81 12 Cytosol;Mitochondrion inner membrane;Golgi apparatus;Endoplasmic reticulum NA 0 PE1 NX_Q96MF7 27932 247 7.62 8 PML body;Nucleus;Telomere Seckel syndrome 10 0 PE1 NX_Q96MG2 36319 331 9.43 19 Endoplasmic reticulum membrane;Endoplasmic reticulum;Sarcoplasmic reticulum membrane NA 0 PE1 NX_Q96MG7 34308 304 9.3 15 Cytoplasm;Nucleus;Telomere Lung disease, immunodeficiency, and chromosome breakage syndrome 0 PE1 NX_Q96MG8 40675 357 5.46 8 Nucleoplasm;Cytoplasm;Cell membrane;Membrane NA 0 PE1 NX_Q96MH2 32419 286 6.13 17 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_Q96MH6 37425 324 7.72 8 Cytoplasmic vesicle;Membrane NA 2 PE1 NX_Q96MH7 72898 638 8.16 5 NA NA 0 PE1 NX_Q96MI6 30375 270 5.34 3 Nucleus NA 0 PE1 NX_Q96MI9 120281 1066 6.85 15 Cytosol Corneal dystrophy, Fuchs endothelial, 8 0 PE1 NX_Q96MK2 105290 946 7.26 20 Nucleoplasm NA 0 PE1 NX_Q96MK3 61417 541 8.2 17 Golgi apparatus;Endoplasmic reticulum;Secreted Amelogenesis imperfecta 1G 0 PE1 NX_Q96MM3 34802 310 9.12 4 Nucleus NA 0 PE1 NX_Q96MM6 75688 686 8.81 20 NA NA 0 PE1 NX_Q96MM7 69130 605 9.79 X Nucleoplasm;Membrane NA 1 PE1 NX_Q96MN2 113415 994 5.54 19 NA NA 0 PE1 NX_Q96MN5 24150 208 10.05 1 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_Q96MN9 36962 340 9.2 10 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q96MP5 79454 696 7.27 20 Cytoplasmic vesicle;Cytosol;Nucleolus NA 0 PE1 NX_Q96MP8 33132 289 5.58 7 Cytosol;Cell membrane Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 0 PE1 NX_Q96MR6 144961 1250 5.61 1 Cytosol NA 0 PE1 NX_Q96MR7 17524 158 11.82 1 NA NA 0 PE5 NX_Q96MR9 91121 790 8.99 19 Nucleoplasm;Nucleus;Cell membrane NA 0 PE2 NX_Q96MS0 148209 1386 6.74 11 Membrane Gaze palsy, familial horizontal, with progressive scoliosis, 1 1 PE1 NX_Q96MS3 38507 346 6.02 12 Cytosol;Secreted NA 0 PE1 NX_Q96MT0 16963 163 5.29 10 NA NA 0 PE2 NX_Q96MT1 75617 663 6.39 5 Endoplasmic reticulum membrane;Cytoplasm;Cytosol;Cell membrane;Nucleoplasm NA 14 PE1 NX_Q96MT3 94300 831 5.84 12 Cytosol;Nucleoplasm;Nucleus membrane Neural tube defects;Epilepsy, progressive myoclonic 1B 0 PE1 NX_Q96MT4 13896 127 7.59 6 NA NA 0 PE1 NX_Q96MT7 213865 1854 5.28 3 Flagellum axoneme;Flagellum Spermatogenic failure 20 0 PE1 NX_Q96MT8 81344 703 5.78 3 Centriole;Nucleoplasm;Centriolar satellite;Centrosome Seckel syndrome 6 0 PE1 NX_Q96MU5 26264 243 6.58 17 Secreted NA 0 PE2 NX_Q96MU6 81964 729 8.77 16 Nucleus NA 0 PE1 NX_Q96MU7 84700 727 5.87 4 Nucleoplasm;Nucleus speckle;Nucleus;Cell membrane NA 0 PE1 NX_Q96MU8 51744 473 6.69 22 Nucleoplasm;Cytosol;Nucleus;Cell membrane Ectodermal dysplasia 13, hair/tooth type 1 PE1 NX_Q96MV1 30041 263 9.4 1 Nucleus speckle;Membrane NA 6 PE1 NX_Q96MV8 39331 337 8.42 X Cytosol;Nucleus speckle;Golgi apparatus membrane Mental retardation, X-linked 91 4 PE1 NX_Q96MW1 25248 224 4.85 17 Cytosol NA 0 PE1 NX_Q96MW5 68424 612 5.12 16 Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2H 0 PE1 NX_Q96MW7 67299 591 8.53 2 Nucleolus;Nucleus NA 0 PE1 NX_Q96MX0 19714 182 4.39 16 Nucleoplasm;Membrane NA 3 PE1 NX_Q96MX3 67820 618 9.51 16 Mitochondrion;Nucleus NA 0 PE1 NX_Q96MX6 39740 357 8.32 2 Nucleoplasm NA 0 PE1 NX_Q96MY1 47215 436 4.92 20 Nucleoplasm NA 0 PE1 NX_Q96MY7 73647 647 9.44 14 NA NA 0 PE1 NX_Q96MZ0 41973 367 6.13 20 Endoplasmic reticulum NA 0 PE1 NX_Q96MZ4 17021 157 11.82 4 NA NA 0 PE1 NX_Q96N03 22349 204 8.75 20 NA NA 0 PE1 NX_Q96N06 15461 139 9.27 16 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q96N11 50047 449 7.61 7 Cytosol;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_Q96N16 73209 626 5.84 4 Cytoskeleton;Membrane NA 0 PE1 NX_Q96N19 46059 417 8.78 11 Cytoskeleton;Nucleolus;Nucleus;Membrane NA 7 PE1 NX_Q96N20 34694 296 9.55 16 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q96N21 55137 525 6.57 17 Nucleus speckle;trans-Golgi network membrane;Nucleus membrane;Golgi apparatus;Cytosol;Cytoplasmic vesicle NA 0 PE1 NX_Q96N22 75059 645 9.27 19 Nucleus NA 0 PE2 NX_Q96N23 351970 3096 8.41 12 Cytosol;Cytoskeleton;Cilium axoneme NA 0 PE1 NX_Q96N28 19247 172 7.02 18 Mitochondrion NA 0 PE1 NX_Q96N35 15076 136 7.18 15 Membrane NA 1 PE5 NX_Q96N38 63883 554 9.29 19 Nucleus NA 0 PE1 NX_Q96N46 88319 770 8.77 3 Nucleus NA 0 PE1 NX_Q96N53 15424 147 11.86 11 NA NA 0 PE5 NX_Q96N58 68531 590 9.19 19 Nucleus NA 0 PE1 NX_Q96N64 81960 755 9.09 5 Nucleoplasm;Focal adhesion;Nucleus NA 0 PE1 NX_Q96N66 52765 472 9.16 19 Cytosol;Membrane Mental retardation, autosomal recessive 57 7 PE1 NX_Q96N67 242561 2140 6.34 1 Axon Epileptic encephalopathy, early infantile, 23 0 PE1 NX_Q96N68 19136 181 7.45 18 Membrane NA 1 PE5 NX_Q96N76 74831 676 6.34 3 NA Urocanase deficiency 0 PE1 NX_Q96N77 49528 438 5.78 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96N87 70897 628 7.03 5 Endoplasmic reticulum;Membrane NA 12 PE2 NX_Q96N95 38612 335 8.26 18 Cytoplasm;Nucleus NA 0 PE1 NX_Q96N96 74820 652 7.01 13 Ruffle membrane;Cytosol;Cytoplasm;Nucleoplasm;Filopodium;Lamellipodium NA 0 PE1 NX_Q96NA2 44200 401 5.47 17 Phagosome membrane;Late endosome membrane;Lysosome membrane NA 0 PE1 NX_Q96NA8 55949 513 9.23 8 Nucleus;Cell membrane;Membrane NA 1 PE1 NX_Q96NB1 19778 174 6.6 16 Cilium;Centriole;Cytoplasmic granule;Centriolar satellite;Centrosome;Cilium basal body NA 0 PE1 NX_Q96NB2 36232 322 9.48 10 Mitochondrion;Mitochondrion membrane NA 5 PE1 NX_Q96NB3 41999 372 5.22 17 Nucleoplasm;Nucleus speckle;Nucleus;Chromosome NA 0 PE1 NX_Q96NC0 23612 199 9.08 5 Mitochondrion;Nucleus NA 0 PE1 NX_Q96ND0 30777 272 9.77 18 Mitochondrion;Cytoplasm;Nucleus;Golgi apparatus;Membrane NA 1 PE1 NX_Q96ND8 66033 569 9.07 19 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q96NE9 72044 622 7.12 14 Mitochondrion;Cytoplasm;Cell membrane NA 0 PE1 NX_Q96NF6 25558 230 9.67 8 Membrane NA 1 PE2 NX_Q96NG3 76655 672 5.49 17 Cytoplasm;Cilium axoneme Ciliary dyskinesia, primary, 35 0 PE1 NX_Q96NG5 45755 402 9.2 19 Nucleus NA 0 PE1 NX_Q96NG8 60498 517 8.79 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q96NH3 144756 1257 6.3 6 Mitochondrion;Cytoplasm;Cilium NA 0 PE1 NX_Q96NI6 79445 719 7.26 14 Membrane NA 1 PE1 NX_Q96NI8 62330 536 8.63 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96NJ1 14269 140 11.49 9 NA NA 0 PE2 NX_Q96NJ3 68261 590 8.59 19 Nucleus NA 0 PE1 NX_Q96NJ5 70362 620 5.97 6 NA NA 0 PE2 NX_Q96NJ6 57662 502 6.99 17 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q96NK8 38705 337 8.76 7 Nucleus NA 0 PE1 NX_Q96NL0 52813 473 5.44 7 NA NA 0 PE1 NX_Q96NL1 33338 305 5.12 8 Cytosol;Autophagosome membrane;Lysosome membrane NA 2 PE1 NX_Q96NL3 67492 588 8.73 19 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q96NL6 80910 688 5.83 4 Centriole;Cytosol;Cytoskeleton NA 0 PE1 NX_Q96NL8 23381 207 6.52 8 Photoreceptor inner segment;Cytoplasm;Cytosol;Cell junction;Cell membrane Cone-rod dystrophy 16;Retinitis pigmentosa 64;Bardet-Biedl syndrome 21 0 PE1 NX_Q96NM4 51604 488 6.23 20 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96NN9 66791 605 9.2 22 Mitochondrion NA 0 PE1 NX_Q96NR2 14382 134 11.88 20 NA NA 0 PE2 NX_Q96NR3 101341 888 8.57 X Cell membrane Autism, X-linked 4 11 PE2 NX_Q96NR7 21356 200 12.28 4 NA NA 0 PE5 NX_Q96NR8 35094 316 9.73 14 NA Leber congenital amaurosis 13;Retinitis pigmentosa 53 0 PE1 NX_Q96NS1 14301 127 8.42 11 Nucleolus NA 0 PE2 NX_Q96NS5 49637 453 8.39 17 Focal adhesion NA 0 PE1 NX_Q96NS8 16687 147 6.48 16 NA NA 0 PE5 NX_Q96NT0 19761 180 6.44 2 Endoplasmic reticulum-Golgi intermediate compartment;Endosome;Lysosome;COPI-coated vesicle;Endoplasmic reticulum;Cytoplasmic vesicle;Cell membrane Congenital disorder of glycosylation 2O 0 PE1 NX_Q96NT1 19593 182 4.12 4 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q96NT3 27207 240 6.4 22 Nucleoplasm NA 0 PE1 NX_Q96NT5 49771 459 9.03 17 Cytosol;Cytoplasm;Apical cell membrane;Cell membrane Hereditary folate malabsorption 12 PE1 NX_Q96NU0 140415 1288 7.19 9 Membrane NA 1 PE2 NX_Q96NU1 72708 681 7.34 1 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_Q96NU7 46743 426 6.14 12 Cytoskeleton;Focal adhesion;Cell membrane NA 0 PE1 NX_Q96NW4 116984 1050 6.42 19 Endosome;Late endosome;Melanosome;Lysosome;Cytosol;Cell membrane;Early endosome;Cytoplasmic vesicle membrane NA 0 PE1 NX_Q96NW7 172581 1537 6.37 1 Postsynaptic density;Cytoplasm NA 0 PE1 NX_Q96NX5 53087 476 7.83 1 Cytoplasm;Golgi apparatus membrane;Cell membrane NA 0 PE1 NX_Q96NX9 65323 599 9.22 X Nucleus NA 0 PE2 NX_Q96NY7 73012 704 4.29 21 Cytoplasm;Cell membrane NA 1 PE1 NX_Q96NY8 55454 510 5.23 1 Adherens junction;Cell membrane;Secreted Ectodermal dysplasia-syndactyly syndrome 1 1 PE1 NX_Q96NY9 61173 551 9.78 11 Nucleolus;Nucleus NA 0 PE1 NX_Q96NZ1 55215 517 5.93 12 Cytosol;Mitochondrion;Nucleus NA 0 PE1 NX_Q96NZ8 58798 548 5.84 16 Secreted NA 0 PE1 NX_Q96NZ9 17208 151 5.2 10 Cytoplasmic vesicle;Nucleoplasm;Cell membrane;Secreted NA 0 PE1 NX_Q96P09 27089 236 6.99 19 Cytoplasm NA 0 PE1 NX_Q96P11 46692 429 8.91 7 NA NA 0 PE1 NX_Q96P15 44099 392 8.42 18 Cytoplasm NA 0 PE1 NX_Q96P16 35720 312 7.13 18 Nucleus;Golgi apparatus NA 0 PE1 NX_Q96P20 118173 1036 6.22 1 Cytosol;Inflammasome;Nucleus;Endoplasmic reticulum;Secreted Chronic infantile neurologic cutaneous and articular syndrome;Deafness, autosomal dominant 34, with or without inflammation;Keratoendothelitis fugax hereditaria;Familial cold autoinflammatory syndrome 1;Muckle-Wells syndrome 0 PE1 NX_Q96P26 68804 610 9.03 2 Cytoplasm NA 0 PE1 NX_Q96P31 80856 734 6.56 1 Cell membrane Rheumatoid arthritis 1 PE1 NX_Q96P44 99369 957 8.57 6 Cytosol;Cytoplasm;Extracellular matrix NA 0 PE1 NX_Q96P47 95044 875 8.22 7 Cytoplasm NA 0 PE1 NX_Q96P48 162192 1450 5.86 11 Golgi stack membrane;Nucleoplasm;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol NA 0 PE1 NX_Q96P50 92495 834 5.69 1 Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q96P53 45154 400 6.46 13 Cytoplasm;Endosome;Early endosome NA 0 PE1 NX_Q96P56 62041 530 6.83 15 Flagellum membrane Deafness-infertility syndrome 6 PE1 NX_Q96P63 46276 405 5.36 18 Cytoplasm NA 0 PE1 NX_Q96P64 73070 663 7.03 10 NA NA 0 PE2 NX_Q96P65 49488 431 9.27 4 Cell membrane NA 7 PE2 NX_Q96P66 56716 508 5.51 X Cell membrane Pituitary adenoma 2, growth hormone-secreting 7 PE1 NX_Q96P67 38409 336 9.21 X Cell membrane NA 6 PE2 NX_Q96P68 38251 337 8.54 13 Cell membrane NA 7 PE2 NX_Q96P69 39332 363 10.26 4 Cell membrane NA 7 PE1 NX_Q96P70 115963 1041 4.71 1 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q96P71 44350 396 5.83 20 Golgi apparatus NA 0 PE1 NX_Q96P88 32537 292 9.45 1 Cell membrane NA 5 PE5 NX_Q96PB1 91680 797 9.04 7 Nucleoplasm;Golgi apparatus membrane NA 15 PE1 NX_Q96PB7 54930 478 8.29 1 Cytoplasmic vesicle;Synapse;Secreted NA 0 PE1 NX_Q96PB8 29275 259 6.49 3 Membrane NA 1 PE1 NX_Q96PC2 46417 410 8.28 6 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q96PC3 18280 154 6.32 2 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Clathrin-coated pit;Golgi apparatus Psoriasis 15, pustular 0 PE1 NX_Q96PC5 159836 1412 4.61 14 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 NX_Q96PD2 85035 775 6.77 3 Cytosol;Golgi apparatus;Cell membrane;Membrane NA 1 PE1 NX_Q96PD4 18045 163 9.15 6 Secreted Candidiasis, familial, 6 0 PE1 NX_Q96PD5 62217 576 7.25 19 Membrane;Cell junction;Secreted NA 0 PE1 NX_Q96PD6 38812 335 9.52 2 Endoplasmic reticulum membrane NA 3 PE2 NX_Q96PD7 43831 388 9.46 11 Endoplasmic reticulum membrane;Perinuclear region;Lipid droplet NA 2 PE1 NX_Q96PE1 142647 1338 8.82 8 Filopodium;Cell membrane NA 7 PE1 NX_Q96PE2 221673 2063 5.9 11 Cytosol NA 0 PE1 NX_Q96PE3 109956 977 6.53 2 Nucleus;Nucleus membrane NA 0 PE1 NX_Q96PE5 15683 141 5.83 10 Golgi apparatus;Cell membrane NA 1 PE1 NX_Q96PE6 54498 472 9.43 19 Nucleus NA 0 PE1 NX_Q96PE7 18749 176 9.17 2 Mitochondrion;Cytoplasm;Nucleolus Methylmalonyl-CoA epimerase deficiency 0 PE1 NX_Q96PF1 79941 710 6.54 15 NA NA 0 PE1 NX_Q96PF2 40939 358 9.02 22 Centriole;Cytoplasm NA 0 PE1 NX_Q96PG1 15209 132 8.42 11 Membrane NA 2 PE2 NX_Q96PG2 29747 267 9.14 11 Membrane NA 4 PE2 NX_Q96PG8 26498 261 11.98 19 NA NA 0 PE1 NX_Q96PH1 86439 765 8.88 15 Endoplasmic reticulum;Membrane NA 7 PE1 NX_Q96PH6 13614 123 6.88 20 Secreted NA 0 PE1 NX_Q96PI1 8793 79 9.76 1 Cytoplasm;Cell cortex NA 0 PE2 NX_Q96PJ5 57224 515 6.08 1 Cell membrane NA 1 PE1 NX_Q96PK6 69492 669 9.68 11 Cytoplasm;Nucleolus;Nucleus;Nucleus speckle NA 0 PE1 NX_Q96PL1 10161 93 6.71 5 Secreted NA 0 PE1 NX_Q96PL2 36956 329 8.34 10 Cell membrane;Extracellular matrix NA 0 PE2 NX_Q96PL5 52605 475 8.75 1 Cytoplasm;Cell membrane NA 1 PE1 NX_Q96PM5 30110 261 6.26 4 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q96PM9 40454 386 9.88 12 Cytosol;Dendrite;Nucleolus;Nucleus;Cytoplasm NA 0 PE1 NX_Q96PN6 187149 1610 6.99 1 Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Mitochondrion;Cytoskeleton;Cilium Hypercalciuria absorptive 2 0 PE1 NX_Q96PN7 132256 1200 6.26 6 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q96PN8 30102 268 6.25 1 Nucleolus;Nucleus NA 0 PE1 NX_Q96PP4 31778 275 10.07 7 NA NA 0 PE1 NX_Q96PP8 66617 586 5.38 1 Cytoplasm;Golgi apparatus membrane;Endoplasmic reticulum NA 0 PE1 NX_Q96PP9 73165 640 5.73 1 Cytoplasm;Perinuclear region;Nucleus;Cell membrane;Golgi apparatus membrane NA 0 PE1 NX_Q96PQ0 128152 1159 6.64 4 Cytosol;Nucleus;Membrane NA 1 PE1 NX_Q96PQ1 64984 595 6.21 19 Membrane NA 1 PE1 NX_Q96PQ5 22863 205 4.73 6 NA NA 0 PE5 NX_Q96PQ6 67959 595 9.21 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96PQ7 84457 755 6.2 4 Cytoskeleton NA 0 PE1 NX_Q96PR1 70226 638 8.24 12 Synaptosome;Synapse;Apical cell membrane;Basolateral cell membrane;Cytosol;Cell membrane;Axon;Dendrite;Postsynaptic cell membrane;Presynaptic cell membrane;Membrane;Perikaryon NA 6 PE1 NX_Q96PS1 20188 177 9.45 3 NA NA 0 PE2 NX_Q96PS6 8425 74 8.48 14 Membrane NA 1 PE4 NX_Q96PS8 31763 301 6.29 1 Membrane NA 5 PE1 NX_Q96PT3 22164 197 10.66 unknown Nucleus NA 0 PE2 NX_Q96PT4 22130 197 10.87 unknown Nucleus NA 0 PE2 NX_Q96PU4 89985 802 8.55 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96PU5 111932 975 5.56 18 Cytoplasm;Focal adhesion;Multivesicular body;Golgi apparatus Periventricular nodular heterotopia 7 0 PE1 NX_Q96PU8 37671 341 8.63 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q96PU9 27710 254 9.9 11 Cytoplasm NA 0 PE1 NX_Q96PV0 148284 1343 9.12 6 Nucleus Mental retardation, autosomal dominant 5 0 PE1 NX_Q96PV4 49934 448 6.33 X NA NA 0 PE1 NX_Q96PV6 88157 800 9.24 19 Nucleus NA 0 PE1 NX_Q96PV7 96543 902 8.18 5 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q96PX1 73579 679 4.6 17 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus NA 0 PE1 NX_Q96PX6 59976 553 9.03 2 NA NA 0 PE1 NX_Q96PX8 77735 696 6.01 13 Synapse;Secreted;Membrane Trichotillomania 1 PE1 NX_Q96PX9 139667 1271 6.33 5 Nucleoplasm NA 0 PE1 NX_Q96PY0 28245 264 11.15 7 NA NA 0 PE5 NX_Q96PY5 123321 1086 6.98 2 Cytosol;Cytoplasm;Golgi apparatus;Cell membrane NA 0 PE1 NX_Q96PY6 142828 1258 5.67 4 Cytoplasm;Nucleolus;Nucleus;Centrosome;Nucleus membrane Short-rib thoracic dysplasia 6 with or without polydactyly;Amyotrophic lateral sclerosis 24 0 PE1 NX_Q96PZ0 75035 661 5.98 7 Nucleus NA 0 PE1 NX_Q96PZ2 70196 611 8.77 11 Cytoplasm;Nucleolus;Nucleus Kenny-Caffey syndrome 2;Gracile bone dysplasia 0 PE1 NX_Q96PZ7 388736 3564 5.64 8 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q96Q04 153661 1460 4.77 19 Nucleoplasm;Axon;Dendrite;Golgi apparatus membrane;Membrane;Cell junction NA 1 PE1 NX_Q96Q05 128530 1148 6.17 8 Golgi apparatus;Nucleoplasm;Cytoplasm;cis-Golgi network;Endoplasmic reticulum;Cytoplasmic vesicle Mental retardation, autosomal recessive 13 0 PE1 NX_Q96Q06 134431 1357 8.92 19 Cytosol;Cytoplasm;Cytoplasmic vesicle;Lipid droplet;Cell membrane NA 0 PE1 NX_Q96Q07 69188 612 5.48 6 Nucleoplasm Restless legs syndrome 6 0 PE1 NX_Q96Q11 50128 434 8.14 3 Mitochondrion Retinitis pigmentosa and erythrocytic microcytosis;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 0 PE1 NX_Q96Q15 410501 3661 6.03 16 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q96Q27 65084 587 7.55 14 NA NA 0 PE1 NX_Q96Q35 52439 445 6.29 2 Cytosol;Cytoplasm;Flagellum;Cell membrane;Cytoplasmic granule NA 0 PE1 NX_Q96Q40 49023 435 6.68 2 Nucleus;Golgi apparatus NA 0 PE1 NX_Q96Q42 183634 1657 5.88 2 Cytosol;Cytoskeleton Amyotrophic lateral sclerosis 2;Juvenile primary lateral sclerosis;Infantile-onset ascending spastic paralysis 0 PE1 NX_Q96Q45 45526 408 6.09 2 Cilium;Membrane Joubert syndrome 14 4 PE1 NX_Q96Q77 21802 187 4.52 19 NA NA 0 PE1 NX_Q96Q80 26679 235 8.64 22 Endoplasmic reticulum membrane;Cytoplasmic vesicle NA 4 PE1 NX_Q96Q83 33375 286 8.58 11 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q96Q89 210629 1820 5.54 10 Nucleolus;Nucleoplasm;Cytoplasm;Spindle pole;Centrosome;Axon;Nucleus;Growth cone;Spindle;Midbody NA 0 PE1 NX_Q96Q91 108248 983 6.66 5 Membrane NA 12 PE2 NX_Q96QA5 49365 445 5.19 17 Cytosol;Nucleoplasm;Perinuclear region;Nucleus;Cell membrane NA 0 PE1 NX_Q96QA6 13577 119 8.21 17 Nucleolus NA 0 PE1 NX_Q96QB1 170591 1528 5.98 8 Golgi apparatus;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Focal adhesion;Membrane NA 0 PE1 NX_Q96QC0 99058 940 9.22 6 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96QD5 58310 511 7.62 11 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q96QD8 56026 506 8.08 12 Cytoplasmic vesicle;Cell membrane NA 11 PE1 NX_Q96QD9 35818 318 11.78 3 Nucleoplasm;Nucleus speckle;Nucleus envelope NA 0 PE1 NX_Q96QE2 70371 648 5.81 12 Nucleus membrane;Membrane NA 12 PE1 NX_Q96QE3 207570 1844 9.27 17 Nucleus NA 0 PE1 NX_Q96QE4 105567 947 4.83 17 Cytosol;Membrane NA 1 PE1 NX_Q96QE5 41676 360 9.39 17 Mitochondrion matrix;Mitochondrion;Mitochondrion nucleoid NA 0 PE1 NX_Q96QF0 53021 476 5.73 12 Cytoplasm;Cytoskeleton;Nucleus;Lamellipodium NA 0 PE1 NX_Q96QF7 76112 691 4.37 X Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q96QG7 63462 549 5.98 8 Cytoplasm;Cytoskeleton;Centrosome NA 0 PE1 NX_Q96QH2 73969 670 9.67 19 Golgi apparatus NA 0 PE1 NX_Q96QH8 17896 159 5.94 X Secreted NA 0 PE1 NX_Q96QI5 37186 342 10.8 16 Golgi apparatus membrane NA 1 PE1 NX_Q96QK1 91707 796 5.32 16 Endosome;Late endosome;Lysosome;Cytoplasm;Early endosome;Membrane Parkinson disease 17 0 PE1 NX_Q96QK8 10710 99 5.15 4 Endoplasmic reticulum membrane NA 1 PE1 NX_Q96QP1 138861 1244 5.83 4 Cytosol;Centrosome NA 0 PE1 NX_Q96QR1 10100 104 8.57 5 Secreted NA 0 PE1 NX_Q96QR8 33241 312 5.35 7 Nucleus NA 0 PE1 NX_Q96QS1 34631 320 8.81 11 Membrane NA 4 PE1 NX_Q96QS3 58160 562 5.14 X Nucleus Mental retardation, X-linked, ARX-related;Lissencephaly, X-linked 2;Epileptic encephalopathy, early infantile, 1;Partington syndrome;Agenesis of the corpus callosum, with abnormal genitalia 0 PE1 NX_Q96QS6 43027 385 9.65 8 NA NA 0 PE2 NX_Q96QT4 212697 1865 8.1 15 Nucleoplasm;Membrane Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 6 PE1 NX_Q96QT6 109698 1004 7.94 17 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96QU1 216069 1955 4.94 10 Cell membrane;Secreted Deafness, autosomal recessive, 23;Usher syndrome 1D/F;Usher syndrome 1F 1 PE1 NX_Q96QU4 30564 278 8.29 10 Nucleus NA 0 PE2 NX_Q96QU6 57324 501 6.01 11 Golgi apparatus NA 0 PE1 NX_Q96QU8 128883 1125 5.94 16 Cytosol;Cytoplasm;Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_Q96QV1 78851 700 8.24 4 Nucleoplasm;Cytoplasm;Cell membrane;Secreted NA 0 PE1 NX_Q96QV6 14234 131 10.86 6 Nucleus;Chromosome NA 0 PE1 NX_Q96QZ0 44683 392 8.48 11 Gap junction;Cell membrane NA 4 PE2 NX_Q96QZ7 164581 1491 7.3 3 Nucleoplasm;Tight junction;Cell membrane;Cell junction NA 0 PE1 NX_Q96R05 15536 134 7.67 1 Cytosol;Nucleus speckle;Cytoplasm NA 0 PE1 NX_Q96R06 134422 1193 4.93 17 Kinetochore;Cytoskeleton;Cytoplasm;Midbody;Cytoplasmic granule;Centriolar satellite;Centrosome;Spindle;Spindle pole NA 0 PE1 NX_Q96R08 35182 314 6.58 11 Cell membrane NA 7 PE2 NX_Q96R09 34568 309 8.58 11 Cell membrane NA 7 PE2 NX_Q96R27 35071 311 8.82 1 Cell membrane NA 7 PE2 NX_Q96R28 39177 347 7.07 1 Cell membrane NA 7 PE3 NX_Q96R30 35339 315 8.81 5 Cell membrane NA 7 PE3 NX_Q96R45 34742 310 8.96 7 Cell membrane NA 7 PE2 NX_Q96R47 34993 310 8.63 7 Cell membrane NA 7 PE2 NX_Q96R48 35207 311 9.44 7 Cell membrane NA 7 PE2 NX_Q96R54 34780 314 8.67 1 Cell membrane NA 7 PE3 NX_Q96R67 34491 309 8.67 11 Cell membrane NA 7 PE2 NX_Q96R69 34259 305 8.49 15 Cell membrane NA 7 PE2 NX_Q96R72 35408 315 8.69 14 Cell membrane NA 7 PE3 NX_Q96R84 34944 312 8.92 16 Cell membrane NA 7 PE5 NX_Q96RA2 34747 312 6.57 19 Cell membrane NA 7 PE2 NX_Q96RB7 34450 305 8.7 11 Cell membrane NA 7 PE2 NX_Q96RC9 34404 309 6.57 11 Cell membrane NA 7 PE2 NX_Q96RD0 35272 313 9.23 11 Cell membrane NA 7 PE3 NX_Q96RD1 35660 312 9.09 12 Cell membrane NA 7 PE2 NX_Q96RD2 36185 323 8.9 11 Cell membrane NA 7 PE2 NX_Q96RD3 35524 313 8.11 11 Cell membrane NA 7 PE3 NX_Q96RD6 74447 677 8.19 22 Gap junction;Cell membrane NA 4 PE1 NX_Q96RD7 48050 426 5.75 11 Endoplasmic reticulum membrane;Gap junction;Cell membrane NA 4 PE1 NX_Q96RD9 106437 977 6.7 1 Cell membrane NA 1 PE1 NX_Q96RE7 57258 527 5.52 19 Nucleoplasm;Cytoplasm;Nucleus Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 0 PE1 NX_Q96RE9 68743 604 9 5 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q96RF0 68894 628 5.44 5 Cytosol;Endosome membrane;Cytoplasmic vesicle membrane;Cell membrane;Endomembrane system NA 0 PE1 NX_Q96RG2 142929 1323 4.75 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q96RI0 41133 385 9.17 19 Cell membrane NA 7 PE1 NX_Q96RI1 55914 486 6.39 12 Nucleoplasm;Nucleus Cholestasis, progressive familial intrahepatic, 5 0 PE1 NX_Q96RI8 38451 345 8.28 6 Cell membrane NA 7 PE2 NX_Q96RI9 39016 348 6.22 6 Cell membrane NA 7 PE2 NX_Q96RJ0 39092 339 8.99 6 Cell membrane NA 7 PE2 NX_Q96RJ3 18864 184 8.47 22 Nucleus;Membrane Immunodeficiency, common variable, 4 1 PE1 NX_Q96RJ6 19017 166 5.11 7 Nucleus NA 0 PE1 NX_Q96RK0 163820 1608 8.74 19 Cytoplasmic vesicle;Nucleoplasm;Nucleus Mental retardation, autosomal dominant 45 0 PE1 NX_Q96RK1 18569 184 5.38 1 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_Q96RK4 58282 519 6.9 15 Flagellum;Cytosol;Cytoplasm;Cilium;Cilium membrane;Centriolar satellite;Centrosome Bardet-Biedl syndrome 4 0 PE1 NX_Q96RL1 79727 719 5.35 5 Nucleus NA 0 PE1 NX_Q96RL6 75795 698 7.28 19 Membrane NA 1 PE1 NX_Q96RL7 360276 3174 5.94 9 NA Choreoacanthocytosis 0 PE1 NX_Q96RM1 7805 72 8.73 1 Cytoplasm NA 0 PE1 NX_Q96RN1 109006 970 5.86 6 Membrane Spermatogenic failure 3 12 PE1 NX_Q96RN5 86753 788 9.49 22 Cytoplasm;Nucleus NA 0 PE1 NX_Q96RP3 12146 112 11.58 3 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q96RP7 54166 486 10.2 7 Cytosol;Golgi stack membrane;Nucleoplasm NA 1 PE1 NX_Q96RP8 50559 456 7.03 19 Membrane NA 6 PE2 NX_Q96RP9 83471 751 6.58 3 Mitochondrion;Nucleus Combined oxidative phosphorylation deficiency 1 0 PE1 NX_Q96RQ1 42549 377 6.27 12 Endoplasmic reticulum membrane;Nucleolus;Cytoplasm;Cytoplasmic vesicle;cis-Golgi network membrane;Nucleus;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 2 PE1 NX_Q96RQ3 80473 725 7.66 3 Mitochondrion matrix;Mitochondrion 3-methylcrotonoyl-CoA carboxylase 1 deficiency 0 PE1 NX_Q96RQ9 62881 567 8.79 19 Lysosome NA 0 PE1 NX_Q96RR1 77154 684 9.13 10 Mitochondrion nucleoid Perrault syndrome 5;Mitochondrial DNA depletion syndrome 7;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 0 PE1 NX_Q96RR4 64746 588 6.25 12 Cytosol;Cytoplasm;Nucleus;Cell projection NA 0 PE1 NX_Q96RS0 96620 853 4.84 8 Cytosol;Cytoplasm;Nucleolus;Nucleus;Cajal body NA 0 PE1 NX_Q96RS6 66756 583 4.99 8 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q96RT1 158298 1412 5.32 5 Nucleus speckle;Basolateral cell membrane;Hemidesmosome;Cell membrane;Nucleus membrane NA 0 PE1 NX_Q96RT6 85282 745 5.85 18 Membrane NA 1 PE1 NX_Q96RT7 200498 1819 5.89 22 Centrosome Microcephaly and chorioretinopathy, autosomal recessive, 1 0 PE1 NX_Q96RT8 118321 1024 5.58 15 Cytosol;Centrosome NA 0 PE1 NX_Q96RU2 122491 1077 5.1 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96RU3 71307 617 5.53 9 Lysosome;Cytoplasm;Clathrin-coated pit;Cell membrane;Cytoplasmic vesicle;Cell cortex;Cytoskeleton NA 0 PE1 NX_Q96RU7 39578 358 8.34 20 Nucleus NA 0 PE1 NX_Q96RU8 41009 372 6.86 8 Cell membrane NA 0 PE1 NX_Q96RV3 258676 2341 6.8 14 Nucleoplasm;Membrane NA 10 PE1 NX_Q96RW7 613390 5635 6.07 1 Cytoplasm;Basement membrane;Cell junction;Cleavage furrow Macular degeneration, age-related, 1 0 PE1 NX_Q96RY5 134718 1269 8.08 16 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q96RY7 165193 1462 5.69 16 Cilium basal body;Cilium;Centrosome Short-rib thoracic dysplasia 9 with or without polydactyly;Retinitis pigmentosa 80 0 PE1 NX_Q96S06 64873 567 9.42 16 Endoplasmic reticulum membrane Combined lipase deficiency 5 PE1 NX_Q96S07 40998 402 11.09 16 NA NA 0 PE4 NX_Q96S15 101989 920 6.11 16 Cytoplasm;Lysosome membrane NA 0 PE1 NX_Q96S16 29509 264 6.16 16 Cytoplasm;Endoplasmic reticulum lumen NA 0 PE1 NX_Q96S19 22578 204 7.71 16 NA NA 0 PE1 NX_Q96S21 31304 281 9.34 16 Cell membrane NA 0 PE1 NX_Q96S37 59630 553 8.61 11 Cell membrane Hypouricemia renal 1 12 PE1 NX_Q96S38 118682 1066 4.76 1 Endosome;Lysosome;Cytosol;Cytoplasm;Membrane;Nucleus;Early endosome NA 0 PE1 NX_Q96S42 39561 347 6.5 10 Secreted Heterotaxy, visceral, 5, autosomal 0 PE1 NX_Q96S44 28160 253 9.56 20 Cytoplasm;Nucleus Galloway-Mowat syndrome 4 0 PE1 NX_Q96S52 61656 555 6.05 17 Endoplasmic reticulum membrane NA 2 PE1 NX_Q96S53 63639 571 6.63 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96S55 72133 665 5.73 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q96S59 77847 729 6.31 6 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 NX_Q96S65 63508 589 4.61 3 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q96S66 62023 551 5.36 1 Nucleus;Golgi apparatus;Endoplasmic reticulum;Membrane NA 3 PE1 NX_Q96S79 23229 203 9.55 17 Cytoplasmic vesicle;Cell membrane NA 0 PE2 NX_Q96S82 40510 380 4.88 15 Nucleoplasm;Cytosol NA 0 PE1 NX_Q96S86 40894 360 6.07 15 Cytosol;Cell membrane;Extracellular matrix NA 0 PE1 NX_Q96S90 25003 227 8.59 1 Nucleus NA 0 PE1 NX_Q96S94 58147 520 10.27 1 Nucleoplasm;Nucleus speckle NA 0 PE1 NX_Q96S95 8658 79 5.32 3 Cytosol;Nucleus;Centrosome NA 0 PE1 NX_Q96S96 25733 227 6.08 8 Lysosome NA 0 PE1 NX_Q96S97 35274 322 8.53 19 Nucleus speckle;Membrane NA 8 PE1 NX_Q96S99 31195 279 8.59 19 Perinuclear region;Nucleus;Lysosome NA 0 PE1 NX_Q96SA4 50742 455 5.81 1 Membrane NA 11 PE1 NX_Q96SB3 89192 815 4.91 17 Synapse;Filopodium;Cytoplasm;Lamellipodium;Cell membrane;Nucleus;Dendritic spine;Ruffle membrane;Adherens junction;Cytoskeleton NA 0 PE1 NX_Q96SB4 74325 655 5.81 6 Cytosol;Cytoplasm;Microsome;Cell membrane;Nucleus;Nucleus matrix NA 0 PE1 NX_Q96SB8 126326 1091 6.57 2 PML body;Nucleus speckle;Nucleoplasm;Cytoplasm;Telomere;Nucleus;Chromosome NA 0 PE1 NX_Q96SC8 53356 542 8.05 1 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q96SD1 78436 692 5.69 10 Nucleoplasm;Nucleus;Golgi apparatus Omenn syndrome;Severe combined immunodeficiency Athabaskan type;Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation 0 PE1 NX_Q96SE0 45207 405 5.8 2 Membrane NA 1 PE1 NX_Q96SE7 95770 839 9.34 19 Cytoskeleton;Nucleus NA 0 PE1 NX_Q96SF2 59388 557 5.49 22 Cytoplasm NA 0 PE1 NX_Q96SF7 65757 602 7.05 1 Nucleoplasm;Nucleus;Centrosome Cousin syndrome 0 PE1 NX_Q96SI1 31942 283 7.05 19 Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q96SI9 73653 672 8.91 9 Cytoplasm;Nucleus NA 0 PE1 NX_Q96SJ8 27710 248 4.9 11 Membrane NA 4 PE1 NX_Q96SK2 62922 561 8.8 7 Cytoplasmic vesicle;Nucleus speckle;Nucleus membrane;Membrane NA 2 PE1 NX_Q96SK3 80507 696 8.93 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96SL1 52088 478 8.85 3 Cytoplasmic vesicle;Lysosome membrane NA 12 PE1 NX_Q96SL4 20996 187 8.42 1 Nucleolus;Secreted Barrett esophagus 0 PE1 NX_Q96SL8 51996 496 8.59 19 Cytoplasm;Nucleus NA 0 PE1 NX_Q96SM3 81668 734 6.19 20 Secreted NA 0 PE1 NX_Q96SN7 28570 254 8.7 7 Nucleus;Membrane NA 4 PE1 NX_Q96SN8 215038 1893 5.44 9 Cytoplasm;Cytoskeleton;Cell junction;Golgi apparatus;Centrosome Microcephaly 3, primary, autosomal recessive 0 PE1 NX_Q96SQ5 65622 575 9.2 19 Nucleus NA 0 PE1 NX_Q96SQ7 34644 321 10.24 2 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE2 NX_Q96SQ9 55817 504 8.8 19 Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum NA 0 PE1 NX_Q96SR6 64010 550 9.42 19 Nucleus speckle;Nucleus NA 0 PE1 NX_Q96ST2 91955 819 4.58 2 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96ST3 145175 1273 6.82 15 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q96ST8 89590 783 6.36 19 Cytosol;Cell membrane;Centrosome;Centriole;Mitochondrion intermembrane space;Spindle pole NA 0 PE1 NX_Q96SU4 83185 736 5.77 1 Cytoplasmic vesicle;Cytoplasm;Late endosome membrane;trans-Golgi network membrane;Golgi apparatus NA 0 PE1 NX_Q96SW2 50546 442 5.41 3 Cytoplasm;Nucleolus;Nucleus;Membrane Mental retardation, autosomal recessive 2A 0 PE1 NX_Q96SY0 57471 518 4.99 15 Nucleoplasm;Cytoplasm;Mitochondrion;Nucleus;Nucleus membrane NA 0 PE1 NX_Q96SZ4 80387 725 9.17 16 Nucleus NA 0 PE1 NX_Q96SZ5 29751 270 5.68 10 NA NA 0 PE1 NX_Q96SZ6 67689 601 8.52 20 Mitochondrion;Nucleus speckle NA 0 PE1 NX_Q96T17 81965 732 8.95 X Cytosol;Nucleoplasm NA 0 PE1 NX_Q96T21 95462 854 8.31 9 Mitochondrion;Nucleoplasm;Nucleus Abnormal thyroid hormone metabolism 0 PE1 NX_Q96T23 163821 1441 4.94 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96T25 68448 663 9.01 13 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q96T37 107189 977 10.09 1 Nucleoplasm;Nucleus speckle;Nucleus envelope;Nucleus membrane NA 0 PE1 NX_Q96T49 63551 567 6.06 20 Nucleus;Cell projection;Cell membrane;Nucleus speckle NA 0 PE1 NX_Q96T51 79818 708 5.54 5 Cytosol;Cytoplasmic vesicle;Early endosome membrane;Nucleus;Cytoplasm NA 0 PE1 NX_Q96T52 19718 175 9.43 7 Mitochondrion;Mitochondrion inner membrane Gilles de la Tourette syndrome 1 PE1 NX_Q96T53 49716 435 8.82 8 Endoplasmic reticulum membrane;Golgi apparatus NA 7 PE1 NX_Q96T54 36895 332 8.61 6 Membrane NA 4 PE2 NX_Q96T55 34153 309 8.94 6 Membrane NA 4 PE1 NX_Q96T58 402248 3664 7.35 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96T59 20651 188 8.31 17 NA NA 0 PE1 NX_Q96T60 57076 521 8.73 19 Nucleolus;Nucleus Microcephaly, seizures, and developmental delay;Ataxia-oculomotor apraxia 4 0 PE1 NX_Q96T66 28322 252 9.28 3 Mitochondrion NA 0 PE1 NX_Q96T68 81894 719 7.62 13 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q96T75 10969 97 8.71 21 NA NA 0 PE1 NX_Q96T76 113290 1030 5.92 10 Nucleoplasm;Spindle;Nucleus NA 0 PE1 NX_Q96T83 80131 725 5.97 X Cytoplasmic vesicle;trans-Golgi network membrane;Recycling endosome membrane NA 13 PE1 NX_Q96T88 89814 793 7.66 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q96T91 14163 129 8.58 11 Secreted NA 0 PE1 NX_Q96T92 59491 566 9.46 14 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q96TA0 80449 734 4.84 5 Cell membrane NA 1 PE5 NX_Q96TA1 84138 746 5.82 9 Cytosol;Adherens junction;Nucleoplasm;Cell membrane;Membrane NA 0 PE1 NX_Q96TA2 86455 773 8.86 10 Mitochondrion;Nucleus;Mitochondrion inner membrane Optic atrophy 11 1 PE1 NX_Q96TC7 52118 470 5.02 15 Cytoplasm;Mitochondrion outer membrane;Nucleus;Mitochondrion;Spindle;Spindle pole;Mitochondrion membrane NA 1 PE1 NX_Q99062 92156 836 5.76 1 Cell membrane;Secreted Hereditary neutrophilia;Neutropenia, severe congenital 7, autosomal recessive 1 PE1 NX_Q99075 23067 208 9.47 5 Extracellular space;Cell membrane NA 1 PE1 NX_Q99081 72965 682 6.52 15 Nucleoplasm;Nucleus speckle;Nucleus Craniosynostosis 3 0 PE1 NX_Q99102 231518 2169 5.85 3 Membrane;Cell membrane;Secreted NA 1 PE1 NX_Q99217 21603 191 6.51 X Extracellular matrix Amelogenesis imperfecta 1E 0 PE1 NX_Q99218 23250 206 6.92 Y Extracellular matrix NA 0 PE2 NX_Q99250 227975 2005 5.56 2 Cell membrane Epileptic encephalopathy, early infantile, 11;Seizures, benign familial infantile, 3 24 PE1 NX_Q99259 66897 594 7.54 2 Cytoplasmic vesicle Cerebral palsy, spastic quadriplegic 1 0 PE1 NX_Q99417 11967 103 5.71 1 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 NX_Q99418 46546 400 5.43 19 Golgi apparatus;Cytosol;Cytoplasm;Cell membrane;Adherens junction;Cell projection;Growth cone;Tight junction NA 0 PE1 NX_Q99424 76827 681 7.32 3 Cytosol;Cytoplasmic vesicle;Peroxisome Congenital bile acid synthesis defect 6 0 PE1 NX_Q99426 27326 244 5.06 19 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q99435 91346 816 5.44 12 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q99436 29965 277 7.58 9 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q99437 21406 205 7.61 1 Cytosol;Vacuole membrane NA 5 PE1 NX_Q99439 33697 309 6.94 19 Cytosol;Nucleoplasm;Cytoskeleton NA 0 PE1 NX_Q99440 10499 93 8.85 4 NA NA 0 PE2 NX_Q99442 45862 399 6.67 3 Endoplasmic reticulum membrane;Cytoskeleton;Endoplasmic reticulum NA 2 PE1 NX_Q99445 17730 158 6.1 8 Cell membrane NA 0 PE2 NX_Q99447 43835 389 6.44 17 Cytoskeleton;Centrosome NA 0 PE1 NX_Q99453 31621 314 9.02 4 Nucleoplasm;Nucleus Congenital central hypoventilation syndrome;Neuroblastoma 2 0 PE1 NX_Q99456 53511 494 4.71 17 NA Corneal dystrophy, Meesmann 0 PE1 NX_Q99457 57593 506 5.01 X Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q99459 92251 802 8.22 6 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 NX_Q99460 105836 953 5.25 2 Nucleoplasm;Cytoskeleton NA 0 PE1 NX_Q99463 33180 290 9.26 5 Membrane NA 6 PE5 NX_Q99466 209622 2003 5.43 6 Nucleus;Cell membrane NA 1 PE1 NX_Q99467 74179 661 5.96 5 Cell membrane NA 1 PE1 NX_Q99469 44554 402 8.74 3 Nucleoplasm;Cytosol;Sarcolemma;Cell membrane NA 0 PE1 NX_Q99470 23026 211 6.83 17 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q99471 17328 154 5.94 12 Cytoplasm;Nucleus NA 0 PE1 NX_Q99487 44036 392 6.43 1 Endoplasmic reticulum membrane;Cytoplasm;Membrane NA 0 PE1 NX_Q99489 37535 341 8.07 6 Cytosol;Peroxisome NA 0 PE1 NX_Q99490 124674 1192 9.91 12 Mitochondrion;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q99496 37655 336 6.38 1 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q99497 19891 189 6.33 1 Cytosol;Cytoplasm;Cell membrane;Nucleus;Mitochondrion;Membrane raft Parkinson disease 7 0 PE1 NX_Q99500 42250 378 9.78 9 Cell membrane NA 7 PE1 NX_Q99501 72717 681 10.1 22 Cytoskeleton;Cell junction;Cell membrane NA 0 PE1 NX_Q99502 64593 592 5.79 8 Nucleoplasm;Cytoplasm;Nucleus Otofaciocervical syndrome 1;Anterior segment anomalies with or without cataract;Branchiootic syndrome 1;Branchiootorenal syndrome 1 0 PE1 NX_Q99504 62663 573 5.06 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q99518 53644 471 6.8 1 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_Q99519 45467 415 5.59 6 Lysosome lumen;Lysosome membrane;Lysosome;Cell membrane;Cytoplasmic vesicle;Cell junction Sialidosis 0 PE1 NX_Q99523 92068 831 5.46 1 Endoplasmic reticulum membrane;Golgi stack membrane;Lysosome membrane;Nucleus membrane;Golgi apparatus;Cytosol;Cell membrane;Endosome membrane;Membrane NA 1 PE1 NX_Q99525 11009 98 11.06 6 Nucleus;Chromosome NA 0 PE1 NX_Q99527 42248 375 8.63 7 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cytoskeleton;Basolateral cell membrane;Cytoplasm;Dendritic spine membrane;Cell membrane;Axon;Dendrite;Perinuclear region;Nucleus;trans-Golgi network;Early endosome;Postsynaptic density;Recycling endosome;Cytoplasmic vesicle membrane;Mitochondrion membrane NA 7 PE1 NX_Q99536 41920 393 5.88 17 Cytoplasm;Mitochondrion outer membrane NA 0 PE1 NX_Q99538 49411 433 6.07 14 Nucleoplasm;Cytoplasmic vesicle;Lysosome NA 0 PE1 NX_Q99541 48075 437 6.34 9 Lipid droplet;Membrane NA 0 PE1 NX_Q99542 57357 508 7.22 12 Cytoplasmic vesicle;Endoplasmic reticulum;Extracellular matrix Cavitary optic disc anomalies 0 PE1 NX_Q99543 71996 621 8.85 7 Cytosol;Nucleus NA 0 PE1 NX_Q99547 19024 160 5.15 16 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q99549 97182 860 5.81 13 Cytosol;Nucleus;Cell membrane;Chromosome NA 0 PE1 NX_Q99550 133024 1183 5.87 12 Centriole;Cytosol;Nucleus;Cell membrane;Golgi apparatus membrane NA 0 PE1 NX_Q99551 45778 399 9.49 7 Mitochondrion NA 0 PE1 NX_Q99558 104042 947 7.77 17 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus;Cytosol NA 0 PE1 NX_Q99567 83542 741 5.47 17 Nucleoplasm;Nuclear pore complex NA 0 PE1 NX_Q99569 131868 1192 9.07 2 Desmosome;Spindle;Midbody;Cell membrane;Cell junction NA 0 PE1 NX_Q99570 153103 1358 6.74 3 Cytoplasmic vesicle;Cytoskeleton;Late endosome;Autophagosome;Membrane NA 0 PE1 NX_Q99571 43369 388 8.29 12 Cytosol;Cytoskeleton;Membrane NA 2 PE1 NX_Q99572 68585 595 8.57 12 Cell membrane;Golgi apparatus NA 2 PE1 NX_Q99574 46427 410 4.84 3 Cytosol;Secreted;Perikaryon;Secretory vesicle lumen Encephalopathy, familial, with neuroserpin inclusion bodies 0 PE1 NX_Q99575 114709 1024 9.36 8 Nucleolus Anauxetic dysplasia 2 0 PE1 NX_Q99576 14810 134 4.51 X Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Nucleus speckle NA 0 PE1 NX_Q99578 24668 217 6.14 18 Nucleus;Cell membrane NA 0 PE1 NX_Q99581 25030 238 9.28 2 Nucleus speckle;Nucleus Sudden infant death syndrome 0 PE1 NX_Q99583 62300 582 8.79 17 Nucleoplasm;Nucleus NA 0 PE1 NX_Q99584 11471 98 5.9 1 Nucleolus;Secreted;Cytosol;Cytoplasm;Cell membrane;Nucleus NA 0 PE1 NX_Q99590 164652 1463 8.69 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q99592 58354 522 5.41 1 Nucleus Mental retardation, autosomal dominant 22 0 PE1 NX_Q99593 57711 518 7.14 12 Nucleoplasm;Cytoplasm;Nucleus Holt-Oram syndrome 0 PE1 NX_Q99594 48676 435 8.49 6 Nucleus NA 0 PE1 NX_Q99595 18024 171 7.72 1 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA 3 PE1 NX_Q99598 33112 290 6.1 1 Nucleoplasm;Cytosol;Perinuclear region;Nucleus;Golgi apparatus NA 0 PE1 NX_Q99607 70730 663 5.41 X Nucleoplasm;PML body;Nucleus NA 0 PE1 NX_Q99608 36086 321 8.81 15 Nucleoplasm;Cytosol;Nucleus;Perikaryon NA 0 PE1 NX_Q99611 47305 448 5.63 16 Nucleoplasm NA 0 PE1 NX_Q99612 31865 283 6.46 10 Cytosol;Cytoplasmic vesicle;Nucleolus;Nucleus Gastric cancer;Prostate cancer 0 PE1 NX_Q99613 105344 913 5.48 16 Cytoplasm NA 0 PE1 NX_Q99614 33526 292 4.78 5 Cytosol;Cytoplasm NA 0 PE1 NX_Q99615 56441 494 6.56 17 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Nucleoplasm NA 0 PE1 NX_Q99616 10986 98 9.94 17 Secreted NA 0 PE1 NX_Q99618 28998 268 6.02 12 Cytosol NA 0 PE1 NX_Q99619 28630 263 8.32 12 Cytosol;Cytoplasm NA 0 PE1 NX_Q99622 13178 126 5.04 12 Nucleus speckle;Cytoplasm Temtamy syndrome 0 PE1 NX_Q99623 33296 299 9.83 12 Mitochondrion inner membrane;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q99624 55773 504 8.03 3 Cytosol;Cytoskeleton;Cell membrane NA 10 PE1 NX_Q99626 33520 313 9.65 13 Nucleoplasm;Nucleus NA 0 PE1 NX_Q99627 23226 209 5.25 2 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q99633 39860 342 8.19 10 Cytosol;Nucleus speckle NA 0 PE1 NX_Q99638 42547 391 5.41 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q99640 54521 499 6.48 16 Endoplasmic reticulum membrane;Nucleus;Nucleolus;Golgi apparatus membrane;Golgi apparatus NA 0 PE1 NX_Q99643 18610 169 9.74 1 Mitochondrion inner membrane Paraganglioma and gastric stromal sarcoma;Paragangliomas 3 3 PE1 NX_Q99645 36637 322 4.67 12 Extracellular matrix NA 0 PE1 NX_Q99650 110509 979 5.54 5 Nucleolus;Membrane Amyloidosis, primary localized cutaneous, 1 1 PE1 NX_Q99653 22456 195 4.98 15 Endoplasmic reticulum-Golgi intermediate compartment;Cytoplasm;Endoplasmic reticulum;Endomembrane system;Cytoplasmic vesicle;Nucleus;Cell membrane;Membrane;Cytoskeleton NA 0 PE1 NX_Q99661 81313 725 8.03 1 Kinetochore;Nucleoplasm;Centrosome;Nucleus;Cytoskeleton;Centromere;Midbody NA 0 PE1 NX_Q99665 97135 862 7.91 1 Cytosol;Cell membrane;Membrane NA 1 PE1 NX_Q99666 198924 1765 6.03 2 Cytoplasm;Nucleus envelope NA 0 PE1 NX_Q99674 31905 301 4.35 2 Secreted NA 0 PE1 NX_Q99675 38242 332 5.05 14 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q99676 86174 751 8.41 6 Nucleus NA 0 PE1 NX_Q99677 41895 370 9.28 X Cytoplasmic vesicle;Nucleus;Cell membrane NA 7 PE1 NX_Q99678 38650 358 9.36 8 Cell membrane NA 7 PE1 NX_Q99679 39515 349 7.87 9 Cell membrane NA 7 PE2 NX_Q99680 49265 433 9.43 7 Cell membrane NA 7 PE2 NX_Q99683 154537 1374 5.52 6 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_Q99684 45297 422 9.24 1 Nucleus Neutropenia, severe congenital 2, autosomal dominant;Dominant nonimmune chronic idiopathic neutropenia of adults 0 PE1 NX_Q99685 33261 303 6.49 3 Cytosol;Nucleoplasm;Membrane NA 0 PE1 NX_Q99687 41115 375 5 19 Nucleus NA 0 PE2 NX_Q99689 45119 392 4.24 11 Cytosol;Cytoskeleton;Centrosome;Cell membrane NA 0 PE1 NX_Q99697 35370 317 9.53 4 Nucleus Anterior segment dysgenesis 4;Axenfeld-Rieger syndrome 1;Ring dermoid of cornea 0 PE1 NX_Q99698 429139 3801 6.15 1 Nucleoplasm;Cytoplasm;Cell membrane;Microtubule organizing center Chediak-Higashi syndrome 0 PE1 NX_Q99700 140283 1313 9.6 12 Cytosol;Cytoplasm Amyotrophic lateral sclerosis 13;Spinocerebellar ataxia 2 0 PE1 NX_Q99704 52392 481 6.05 2 Cytosol;Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 NX_Q99705 45963 422 9.23 22 Cell membrane NA 7 PE1 NX_Q99706 41487 377 7.29 19 Early endosome membrane;Cell membrane NA 1 PE1 NX_Q99707 140527 1265 5.39 1 Cytosol;Cytoplasm Homocystinuria-megaloblastic anemia, cblG complementation type;Neural tube defects, folate-sensitive 0 PE1 NX_Q99708 101942 897 5.92 18 Nucleoplasm;Nucleus;Chromosome Seckel syndrome 2;Jawad syndrome 0 PE1 NX_Q99712 42577 375 7.6 21 Cytoplasmic vesicle;Cytosol;Cell membrane;Membrane NA 2 PE1 NX_Q99714 26923 261 7.65 X Mitochondrion HDS10 mitochondrial disease;Mental retardation, X-linked 17 0 PE1 NX_Q99715 333147 3063 5.38 6 Nucleus;Extracellular matrix Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 0 PE1 NX_Q99717 52258 465 7.63 5 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 NX_Q99719 42777 369 6.21 22 Nucleoplasm;Cytosol;Cytoskeleton;Cytoplasm NA 0 PE1 NX_Q99720 25128 223 5.61 9 Endoplasmic reticulum membrane;Nucleus outer membrane;Lipid droplet;Nucleus envelope;Cell membrane;Growth cone;Cytoplasmic vesicle;Membrane;Postsynaptic density;Nucleus inner membrane;Cell junction Amyotrophic lateral sclerosis 16, juvenile;Distal spinal muscular atrophy, autosomal recessive, 2 1 PE1 NX_Q99726 41945 388 6 2 Synaptosome;Synaptic vesicle membrane;Lysosome membrane;Cytosol;Nucleolus;Cytoplasmic vesicle;Late endosome membrane;Nucleus;Synaptic vesicle NA 6 PE1 NX_Q99727 25503 224 7.95 3 Secreted NA 0 PE1 NX_Q99728 86648 777 8.99 2 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q99729 36225 332 8.21 5 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q99731 10993 98 9.84 9 Secreted NA 0 PE1 NX_Q99732 17107 161 5.99 16 Endosome membrane;Lysosome membrane;Cytosol;Cytoplasm;Early endosome membrane;Cell membrane;Cytoplasmic vesicle;Nucleoplasm;Late endosome membrane;Golgi apparatus membrane;Nucleus Charcot-Marie-Tooth disease 1C 0 PE1 NX_Q99733 42823 375 4.6 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q99735 16621 147 9.6 4 Nucleoplasm;Microsome membrane;Endoplasmic reticulum membrane NA 3 PE1 NX_Q99741 62720 560 9.64 17 Cytosol;Cytoplasm;Spindle;Nucleus;Cytoskeleton Meier-Gorlin syndrome 5 0 PE1 NX_Q99742 62702 590 8.61 19 Nucleoplasm;Nucleus NA 0 PE2 NX_Q99743 91791 824 6.35 2 Nucleoplasm;Nucleus NA 0 PE1 NX_Q99747 34746 312 5.3 18 Cytosol;Cell membrane;Membrane NA 0 PE1 NX_Q99748 22405 197 10.92 19 Secreted NA 0 PE1 NX_Q99750 25029 246 4.29 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q99755 62633 562 8.41 1 Nucleus speckle;Ruffle;Cytoplasm;Cell membrane;Nucleus;Lamellipodium NA 0 PE1 NX_Q99757 18383 166 8.46 22 Mitochondrion Combined oxidative phosphorylation deficiency 29 0 PE1 NX_Q99758 191362 1704 7.55 16 Nucleoplasm;Cytosol;Membrane Pulmonary surfactant metabolism dysfunction 3 14 PE1 NX_Q99759 70898 626 8.98 17 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q99766 24866 215 7.51 14 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane NA 0 PE1 NX_Q99767 82512 749 4.77 15 NA NA 0 PE1 NX_Q99784 55343 485 6.48 9 Synapse;Nucleolus;Perikaryon;Secreted;Cytosol;Endoplasmic reticulum;Axon;Nucleus NA 0 PE1 NX_Q99788 42322 373 8.71 12 Cell membrane NA 7 PE1 NX_Q99795 35632 319 4.85 1 Membrane NA 1 PE1 NX_Q99797 80641 713 6.6 13 Mitochondrion;Mitochondrion matrix Combined oxidative phosphorylation deficiency 31 0 PE1 NX_Q99798 85425 780 7.36 22 Mitochondrion Infantile cerebellar-retinal degeneration;Optic atrophy 9 0 PE1 NX_Q99801 26350 234 9.23 8 Nucleus NA 0 PE1 NX_Q99805 75776 663 7.22 13 Endosome membrane;Cytoplasm;Cell membrane NA 9 PE1 NX_Q99807 24277 217 8.77 16 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane;Cell membrane Coenzyme Q10 deficiency, primary, 8 0 PE1 NX_Q99808 50219 456 8.62 6 Apical cell membrane;Basolateral cell membrane;Cell membrane NA 11 PE1 NX_Q99811 27079 253 10.15 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q99814 96459 870 5.87 2 Cytosol;Nucleoplasm;Nucleus;Nucleus speckle Erythrocytosis, familial, 4 0 PE1 NX_Q99816 43944 390 6.06 11 Nucleolus;Cytosol;Cytoplasm;Early endosome membrane;Midbody ring;Cell membrane;Late endosome membrane;Nucleus;Centrosome NA 0 PE1 NX_Q99819 25098 225 5.45 16 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q99828 21703 191 4.65 15 Sarcolemma;Apical cell membrane;trans-Golgi network;Nucleoplasm;Cytoplasm;Filopodium tip;Cell membrane;Growth cone;Perinuclear region;Nucleus;Ruffle membrane;Membrane;Lamellipodium;Cytoskeleton;Centrosome NA 0 PE1 NX_Q99829 59059 537 5.52 20 Nucleoplasm;Cytoplasm;Nucleus;Nucleus membrane;Cell membrane NA 0 PE1 NX_Q99832 59367 543 7.55 2 Cytosol;Cytoplasm NA 0 PE1 NX_Q99835 86397 787 8.71 7 Cilium;Membrane Curry-Jones syndrome 7 PE1 NX_Q99836 33233 296 5.89 3 Cytosol;Cytoplasm;Mitochondrion;Nucleus;Cytoplasmic vesicle MYD88 deficiency 0 PE1 NX_Q99848 34852 306 10.1 1 Nucleolus NA 0 PE1 NX_Q99853 34978 325 9.66 15 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 NX_Q99856 62889 593 4.84 19 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;Cytosol NA 0 PE1 NX_Q99865 29188 258 6.72 X Nucleus NA 0 PE1 NX_Q99871 40778 368 4.73 X Nucleolus;Cytosol;Cytoplasm;Cell membrane;Nucleus;Spindle;Centrosome NA 0 PE1 NX_Q99873 42462 371 5.18 19 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q99877 13922 126 10.31 6 Nucleus;Chromosome NA 0 PE1 NX_Q99878 13936 128 10.88 6 Nucleus;Chromosome NA 0 PE1 NX_Q99879 13989 126 10.31 6 Nucleus;Chromosome NA 0 PE1 NX_Q99880 13952 126 10.31 6 Nucleus;Chromosome NA 0 PE1 NX_Q99884 70911 636 6.22 5 Cytoplasm;Cell membrane;Membrane NA 12 PE1 NX_Q99895 29484 268 7.54 1 NA Pancreatitis, hereditary 0 PE1 NX_Q99909 21697 188 8.82 X NA NA 0 PE1 NX_Q99928 54289 467 7.46 15 Postsynaptic cell membrane;Cell membrane NA 4 PE2 NX_Q99929 20185 193 11.18 11 Nucleus NA 0 PE1 NX_Q99932 44819 426 5.31 9 Cytoplasm;Spindle;Nucleus;Acrosome;Microtubule organizing center NA 0 PE1 NX_Q99933 38779 345 7.68 9 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q99935 27217 248 10.42 4 Secreted NA 0 PE1 NX_Q99941 76709 703 5.9 6 Endoplasmic reticulum membrane;Nucleolus;Nucleus NA 1 PE1 NX_Q99942 19881 180 6.2 6 Endoplasmic reticulum membrane;Endoplasmic reticulum;Mitochondrion membrane;Membrane NA 2 PE1 NX_Q99943 31717 283 9.48 6 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum NA 3 PE1 NX_Q99944 32262 293 6.37 6 Cytoplasmic vesicle;Nucleus speckle;Secreted NA 0 PE1 NX_Q99946 31430 306 7.26 6 Synapse;Cell membrane NA 2 PE1 NX_Q99952 50482 460 8.57 2 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q99954 14048 134 9.62 4 Secreted NA 0 PE1 NX_Q99956 41868 384 5.8 X Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_Q99958 53719 501 8.68 16 Nucleoplasm;Nucleus Lymphedema-distichiasis 0 PE1 NX_Q99959 97415 881 9.39 12 Nucleoplasm;Desmosome;Nucleus;Cell junction Arrhythmogenic right ventricular dysplasia, familial, 9 0 PE1 NX_Q99961 41490 368 5.31 19 Cytosol;Cytoplasm;Early endosome membrane;Podosome NA 0 PE1 NX_Q99962 39962 352 5.32 9 Cytoplasm;Spindle;Membrane;Cytoskeleton;Early endosome NA 0 PE1 NX_Q99963 39285 347 5.27 15 Cytoplasm;Early endosome membrane NA 0 PE1 NX_Q99965 82457 735 5.77 8 Membrane NA 1 PE1 NX_Q99966 19896 193 4.63 X Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 NX_Q99967 28497 270 6.42 6 Nucleoplasm;Nucleus Ventricular septal defect 2;Atrial septal defect 8 0 PE1 NX_Q99969 18618 163 9.3 7 Cytosol;Secreted NA 0 PE1 NX_Q99972 56972 504 5.44 1 Extracellular space;Rough endoplasmic reticulum;Golgi apparatus;Secreted;Extracellular matrix;Exosome;Endoplasmic reticulum;Mitochondrion outer membrane;Cytoplasmic vesicle;Mitochondrion inner membrane;Mitochondrion intermembrane space;Mitochondrion;Cell projection;Cilium Glaucoma 1, open angle, A;Glaucoma 3, primary congenital, A 0 PE1 NX_Q99973 290490 2627 8.26 14 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Telomere NA 0 PE1 NX_Q99983 49492 421 5.34 9 Nucleolus;Endoplasmic reticulum;Extracellular matrix NA 0 PE1 NX_Q99985 85207 751 8.96 7 Cytosol;Cell membrane;Golgi apparatus;Secreted NA 0 PE1 NX_Q99986 45476 396 9.02 14 Cytosol;Cytoplasm;Spindle;Nucleus Pontocerebellar hypoplasia 1A 0 PE1 NX_Q99988 34140 308 9.79 19 Golgi apparatus;Secreted NA 0 PE1 NX_Q99990 28707 258 9.26 X Nucleus NA 0 PE1 NX_Q99996 452987 3907 4.95 7 Cytoplasmic vesicle;Cytoplasm;Centrosome;Golgi apparatus Long QT syndrome 11 0 PE1 NX_Q99999 48764 423 8.84 22 Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 NX_Q9BPU6 61421 564 6.73 2 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 NX_Q9BPU9 19261 175 7.14 19 Nucleus;Cilium axoneme;Cilium basal body Meckel syndrome 10;Joubert syndrome 34 0 PE1 NX_Q9BPV8 40789 354 9.94 3 Cell membrane NA 7 PE1 NX_Q9BPW4 39164 351 7.78 22 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q9BPW5 27508 248 9.28 4 Nucleus NA 0 PE2 NX_Q9BPW8 33310 284 9.35 22 NA NA 0 PE1 NX_Q9BPW9 35227 319 8.78 2 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_Q9BPX1 28317 270 5.8 19 Cytoplasm NA 0 PE1 NX_Q9BPX3 114334 1015 5.44 4 Cytoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q9BPX5 16941 153 6.15 9 Cytoskeleton NA 0 PE1 NX_Q9BPX6 54351 476 8.61 10 Mitochondrion;Mitochondrion inner membrane;Mitochondrion intermembrane space Myopathy with extrapyramidal signs 1 PE1 NX_Q9BPX7 46451 421 6 7 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9BPY3 39499 351 5.65 11 Cytosol;Cajal body;Cytoskeleton NA 0 PE1 NX_Q9BPY8 8260 73 4.8 4 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9BPZ2 29158 258 6.72 X Nucleus NA 0 PE1 NX_Q9BPZ3 14984 127 4.03 5 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q9BPZ7 59123 522 7.24 9 Nucleoplasm;Cytosol;Cytoplasmic vesicle;Nucleus;Cell membrane NA 0 PE1 NX_Q9BQ04 40150 359 6.28 11 Nucleolus;Nucleus NA 0 PE1 NX_Q9BQ08 11730 111 7.44 3 Secreted NA 0 PE2 NX_Q9BQ13 29591 255 8.78 11 NA NA 0 PE1 NX_Q9BQ15 22338 211 9.17 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BQ16 49429 436 4.79 4 Nucleolus;Nucleus;Golgi apparatus;Extracellular matrix NA 0 PE1 NX_Q9BQ24 26506 234 8.78 14 Cytoplasmic vesicle;Cytoplasm;Endosome;Focal adhesion NA 0 PE1 NX_Q9BQ31 56001 491 4.92 2 Cytosol;Golgi apparatus;Cell membrane NA 6 PE1 NX_Q9BQ39 82565 737 9.26 10 Nucleolus NA 0 PE1 NX_Q9BQ48 10165 92 12.25 19 Nucleoplasm;Cytoplasmic vesicle;Mitochondrion;Nucleus NA 0 PE1 NX_Q9BQ49 8631 75 7.9 19 Golgi apparatus;Membrane NA 1 PE1 NX_Q9BQ50 30621 279 6.37 X Nucleus NA 0 PE1 NX_Q9BQ51 30957 273 8.18 9 Cytosol;Endomembrane system;Cell membrane;Secreted NA 1 PE1 NX_Q9BQ52 92219 826 8.13 17 Nucleoplasm;Mitochondrion;Nucleus Combined oxidative phosphorylation deficiency 17;Prostate cancer, hereditary, 2 0 PE1 NX_Q9BQ61 18419 176 9.46 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BQ65 30268 265 6.06 16 Nucleus Poikiloderma with neutropenia 0 PE1 NX_Q9BQ66 21407 201 8.37 17 NA NA 0 PE1 NX_Q9BQ67 49419 446 4.82 19 Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_Q9BQ69 35505 325 9.58 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BQ70 76667 676 5.96 16 Nucleus NA 0 PE1 NX_Q9BQ75 31884 279 9.26 3 Mitochondrion;Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 NX_Q9BQ83 30771 275 6.59 16 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BQ87 56688 522 5.33 Y Nucleus NA 0 PE1 NX_Q9BQ89 31271 295 10.46 20 Cytosol;Cytoplasm;Spindle pole;Cytoplasmic vesicle;Nucleus;Centrosome NA 0 PE1 NX_Q9BQ90 43088 382 8.37 6 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q9BQ95 49148 431 5.89 19 Cytosol;Nucleoplasm;Mitochondrion;Nucleus;Cytoplasm NA 0 PE1 NX_Q9BQA1 36724 342 5.03 1 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Golgi apparatus NA 0 PE1 NX_Q9BQA5 59678 517 5.77 11 Nucleus NA 0 PE1 NX_Q9BQA9 20774 187 6.3 17 Endoplasmic reticulum membrane;Cell junction;Cell membrane NA 1 PE1 NX_Q9BQB4 24031 213 9.43 17 Extracellular matrix Craniodiaphyseal dysplasia autosomal dominant;Sclerosteosis 1;Van Buchem disease 0 PE1 NX_Q9BQB6 18235 163 9.53 16 Endoplasmic reticulum membrane;Endoplasmic reticulum Combined deficiency of vitamin K-dependent clotting factors 2;Coumarin resistance 4 PE1 NX_Q9BQC3 52083 489 5.36 1 Nucleus NA 0 PE1 NX_Q9BQC6 12266 102 11.45 13 Mitochondrion NA 0 PE1 NX_Q9BQD1 9856 86 8.66 5 NA NA 0 PE5 NX_Q9BQD3 19668 176 4.79 19 Cytosol;Lysosome membrane;Centrosome;Nucleolus NA 0 PE1 NX_Q9BQD7 25130 235 9.45 16 Cytosol;Membrane NA 1 PE1 NX_Q9BQE3 49895 449 4.96 12 Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q9BQE4 21163 189 9.72 15 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum NA 1 PE1 NX_Q9BQE5 37092 337 6.28 22 Cytoplasm NA 0 PE1 NX_Q9BQE6 31565 289 4.52 11 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9BQE9 22195 202 4.67 7 Nucleoplasm NA 0 PE1 NX_Q9BQF6 119658 1050 6.19 3 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9BQG0 148855 1328 9.34 17 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9BQG1 63304 590 6.16 19 Secretory vesicle membrane;Cell membrane NA 1 PE1 NX_Q9BQG2 52076 462 6.38 5 Nucleus;Peroxisome NA 0 PE1 NX_Q9BQI0 17068 150 6.63 9 Cytoskeleton;Ruffle membrane NA 0 PE1 NX_Q9BQI3 71106 630 5.68 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9BQI4 30731 270 8.95 10 Cytosol;Nucleus;Endoplasmic reticulum;Secreted NA 0 PE1 NX_Q9BQI5 89109 828 8.39 1 Mitochondrion;Cytoplasm;Clathrin-coated pit NA 0 PE1 NX_Q9BQI6 121050 1058 8.7 5 Cytoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q9BQI7 84660 771 5.04 5 Cleavage furrow;Ruffle membrane;Cell membrane NA 1 PE1 NX_Q9BQI9 31331 281 8.75 12 Cytosol;Nucleus NA 0 PE1 NX_Q9BQJ4 19998 181 6.26 X Adherens junction;Nucleus membrane;Cell membrane;Membrane NA 4 PE1 NX_Q9BQK8 93614 851 5.35 20 Cytosol;Nucleus NA 0 PE1 NX_Q9BQL6 77437 677 5.91 20 Cytoskeleton;Focal adhesion;Ruffle membrane Kindler syndrome 0 PE1 NX_Q9BQM9 17214 153 11.47 20 NA NA 0 PE1 NX_Q9BQN1 81078 747 8.28 20 NA NA 0 PE1 NX_Q9BQP7 39421 344 7.58 20 Mitochondrion Mitochondrial DNA depletion syndrome 11 0 PE1 NX_Q9BQP9 28436 254 6.17 20 Secreted NA 0 PE1 NX_Q9BQQ3 46482 440 4.42 3 cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus NA 0 PE1 NX_Q9BQQ7 27031 232 8.97 3 Mitochondrion;Membrane NA 1 PE1 NX_Q9BQR3 31940 290 8.47 16 Secreted NA 0 PE1 NX_Q9BQS2 47375 421 7.12 10 Golgi apparatus;Cell membrane NA 1 PE1 NX_Q9BQS6 17486 159 9.16 17 Cytoplasm;Nucleus NA 0 PE1 NX_Q9BQS7 130449 1158 5.61 X Membrane NA 1 PE1 NX_Q9BQS8 166983 1478 4.86 3 Cytoplasmic vesicle;Endosome;Autophagosome;Lysosome Cataract 18 0 PE1 NX_Q9BQT8 33303 299 9.53 14 Mitochondrion inner membrane NA 6 PE1 NX_Q9BQT9 106098 956 5.24 12 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell membrane NA 1 PE1 NX_Q9BQW3 64473 602 8.9 20 Nucleus NA 0 PE2 NX_Q9BQY4 31692 288 4.53 X Nucleus NA 0 PE1 NX_Q9BQY6 14626 131 8.64 20 Secreted NA 0 PE2 NX_Q9BQY9 27671 259 4.45 20 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q9BR01 33085 284 5.42 22 Cytoplasm NA 0 PE1 NX_Q9BR09 31690 285 7.76 20 Cytoplasmic vesicle;Cytoplasm NA 0 PE2 NX_Q9BR10 23834 227 8.59 20 Golgi apparatus;Membrane NA 1 PE1 NX_Q9BR11 55071 485 7.05 20 Cytosol;Cell membrane NA 0 PE1 NX_Q9BR26 61579 566 8.88 20 Membrane NA 6 PE2 NX_Q9BR39 74222 696 8.82 20 Endoplasmic reticulum membrane;Cell membrane;Sarcoplasmic reticulum membrane Cardiomyopathy, familial hypertrophic 17 1 PE1 NX_Q9BR46 17183 151 8.93 20 NA NA 0 PE4 NX_Q9BR61 31151 282 5 1 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q9BR76 54235 489 5.6 11 Cytosol;Cytoskeleton;Stress fiber;Cell membrane NA 0 PE1 NX_Q9BR77 57486 488 8.91 12 Nucleus membrane NA 0 PE1 NX_Q9BR84 62318 538 8.9 19 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q9BRA0 13514 125 5.37 17 Cytoplasm;Nucleus NA 0 PE1 NX_Q9BRA2 13941 123 5.4 17 Cytoplasm NA 0 PE1 NX_Q9BRB3 84082 760 8.37 16 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus;Membrane NA 5 PE1 NX_Q9BRC7 87585 762 5.08 2 Nucleus membrane;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleus;Cell membrane;Membrane NA 0 PE1 NX_Q9BRD0 70521 619 9.86 11 Nucleus NA 0 PE1 NX_Q9BRF8 35548 314 5.79 16 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9BRG1 20748 176 5.97 17 Nucleoplasm;Endosome membrane;Centrosome;Cytoplasm NA 0 PE1 NX_Q9BRG2 63093 576 7.03 19 Nucleoplasm;Cytoskeleton NA 0 PE1 NX_Q9BRH9 75763 671 9.36 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BRI3 35178 323 5.7 1 Cytoplasmic vesicle;Vacuole membrane;Lysosome membrane Zinc deficiency, transient neonatal 5 PE1 NX_Q9BRJ2 35351 306 9.14 17 Mitochondrion NA 0 PE1 NX_Q9BRJ6 22083 194 9.65 7 Nucleolus;Nucleus NA 0 PE1 NX_Q9BRJ7 23338 211 9.07 16 Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q9BRJ9 28501 268 9.26 15 Nucleolus;Nucleus NA 0 PE2 NX_Q9BRK0 28261 252 9.54 5 Membrane Spastic paraplegia 72 2 PE1 NX_Q9BRK3 49132 442 6.75 1 Nucleolus;Membrane NA 1 PE1 NX_Q9BRK4 72759 669 6.13 10 Cytosol;Cytoplasm;Centrosome;Cell membrane NA 0 PE1 NX_Q9BRK5 41807 362 4.76 1 Cytoplasm;Bleb;Golgi apparatus;Cell membrane;Golgi apparatus lumen NA 0 PE1 NX_Q9BRL6 32288 282 11.72 11 Nucleus NA 0 PE1 NX_Q9BRL7 34269 303 5.91 3 Endoplasmic reticulum membrane;Golgi apparatus NA 4 PE1 NX_Q9BRN9 27118 247 8.43 15 Cytosol;Nucleoplasm;Membrane NA 2 PE1 NX_Q9BRP0 30438 275 9.02 20 Cytosol;Nucleoplasm;Nucleus Corneal dystrophy, posterior polymorphous, 1 0 PE1 NX_Q9BRP1 39417 358 4.71 19 Mitochondrion NA 0 PE1 NX_Q9BRP4 42190 392 5.92 11 Cytosol;Nucleus NA 0 PE1 NX_Q9BRP7 70416 624 6.29 11 Cytosol;Nucleus NA 0 PE1 NX_Q9BRP8 22656 204 9.45 12 Nucleolus;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Cell junction NA 0 PE1 NX_Q9BRP9 15625 147 9.02 11 NA NA 0 PE5 NX_Q9BRQ0 41244 406 6.89 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BRQ3 32580 303 4.99 11 Nucleoplasm NA 0 PE1 NX_Q9BRQ4 30859 267 6.39 11 Cytoplasm;Centrosome;Cilium axoneme NA 0 PE1 NX_Q9BRQ5 31499 295 7.21 16 Nucleoplasm;Cytosol;Membrane NA 4 PE1 NX_Q9BRQ6 26458 235 9.01 3 Mitochondrion inner membrane;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q9BRQ8 40527 373 9.16 10 Cytosol;Cytoplasm;Mitochondrion outer membrane;Membrane NA 1 PE1 NX_Q9BRR0 60641 538 5.98 6 Cytoplasm;Nucleus NA 0 PE1 NX_Q9BRR3 46588 403 7.27 9 Mitochondrion;Membrane NA 3 PE1 NX_Q9BRR6 54089 497 5.77 15 Cytoplasm;Nucleus;Centrosome;Secreted NA 0 PE1 NX_Q9BRR8 103345 931 6.59 19 Nucleoplasm;Cell junction;Cell membrane NA 0 PE1 NX_Q9BRR9 83260 750 8.65 12 NA NA 0 PE1 NX_Q9BRS2 65583 568 5.84 6 Cytosol;Nucleus speckle;Nucleolus NA 0 PE1 NX_Q9BRS8 54737 491 8.4 15 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9BRT2 14875 126 6.84 6 Mitochondrion nucleoid;Mitochondrion matrix;Nucleus;Mitochondrion intermembrane space;Mitochondrion;Mitochondrion inner membrane Mitochondrial complex III deficiency, nuclear 7 0 PE1 NX_Q9BRT3 12403 115 4.4 17 Cytosol;Cell membrane NA 0 PE1 NX_Q9BRT6 15225 129 10.38 12 Nucleolus;Chromosome NA 0 PE1 NX_Q9BRT8 44068 395 4.76 9 NA NA 0 PE1 NX_Q9BRT9 26047 223 4.94 8 Nucleoplasm;Cytoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q9BRU2 12324 100 8.46 X Nucleus NA 0 PE2 NX_Q9BRU9 28402 249 10.08 8 Nucleolus NA 0 PE1 NX_Q9BRV3 25030 221 8.8 1 Golgi apparatus membrane;Cell membrane NA 7 PE1 NX_Q9BRV8 23721 207 5.09 1 Cytoplasmic vesicle;Cytoplasm;Focal adhesion NA 0 PE1 NX_Q9BRX2 43359 385 5.93 5 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9BRX5 24535 216 5.21 16 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BRX8 25764 229 8.92 10 Cytoplasm;Secreted NA 0 PE1 NX_Q9BRX9 34343 315 5.36 19 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;Centrosome NA 0 PE1 NX_Q9BRY0 33601 314 6.39 19 Cytoplasmic vesicle;Membrane NA 8 PE1 NX_Q9BRZ2 81488 755 8.02 7 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q9BS16 31655 269 4.83 5 Kinetochore;Nucleus;Centromere NA 0 PE1 NX_Q9BS18 8521 74 4.04 3 Mitochondrion;Cytosol;Nucleus NA 0 PE1 NX_Q9BS26 46971 406 5.09 9 Endoplasmic reticulum lumen NA 0 PE1 NX_Q9BS31 57683 505 9.03 19 Nucleus NA 0 PE1 NX_Q9BS34 44603 389 8.8 1 Cytosol;Nucleus NA 0 PE1 NX_Q9BS40 25750 222 5.54 3 Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 NX_Q9BS86 40142 351 9.42 7 Acrosome membrane;Secreted NA 0 PE1 NX_Q9BS91 48500 424 8.55 3 Golgi apparatus;Membrane NA 10 PE1 NX_Q9BS92 28313 247 9.32 9 NA NA 0 PE1 NX_Q9BSA4 58772 534 5.48 17 Cell membrane NA 5 PE1 NX_Q9BSA9 55615 504 7.61 4 Endosome membrane;Lysosome membrane;Nucleus;Nucleus membrane Parkinson disease 12 PE1 NX_Q9BSB4 25003 218 5.81 12 Cytoplasm;Preautophagosomal structure NA 0 PE1 NX_Q9BSC4 80302 688 8.64 2 Nucleolus NA 0 PE1 NX_Q9BSD3 26709 238 9.69 12 Nucleus;Chromosome NA 0 PE1 NX_Q9BSD7 20713 190 9.61 1 Cytosol NA 0 PE1 NX_Q9BSE2 43520 394 4.87 1 Lysosome;Nucleolus;trans-Golgi network;Membrane NA 5 PE1 NX_Q9BSE4 45147 406 4.93 7 Nucleolus;Membrane NA 1 PE1 NX_Q9BSE5 37660 352 7.54 1 Mitochondrion NA 0 PE1 NX_Q9BSF0 10970 95 4.84 2 Cell membrane NA 0 PE1 NX_Q9BSF4 29233 260 8.29 19 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane NA 1 PE1 NX_Q9BSF8 53779 475 7.65 11 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9BSG0 21042 188 5.23 2 Secreted NA 0 PE1 NX_Q9BSG1 48863 426 8.91 2 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9BSG5 24615 229 8.59 19 Interphotoreceptor matrix;Endoplasmic reticulum;Cell membrane NA 0 PE1 NX_Q9BSH3 24202 213 6.59 3 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BSH4 32477 297 8.37 17 Mitochondrion Leigh syndrome 0 PE1 NX_Q9BSH5 28000 251 6.21 9 Nucleolus NA 0 PE1 NX_Q9BSI4 50023 451 8.2 14 Nucleus;Nucleus matrix;Telomere Dyskeratosis congenita, autosomal dominant, 3;Dyskeratosis congenita, autosomal dominant, 5 0 PE1 NX_Q9BSJ1 52285 452 5.72 11 Cytoplasmic vesicle;Nucleolus NA 0 PE2 NX_Q9BSJ2 102534 902 6.38 10 Nucleoplasm;Centrosome NA 0 PE1 NX_Q9BSJ5 67315 609 9.3 17 Nucleoplasm;Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q9BSJ6 27480 248 10.22 17 Nucleolus;Nucleus NA 0 PE1 NX_Q9BSJ8 122856 1104 5.57 12 Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum NA 2 PE1 NX_Q9BSK0 18914 173 9.69 10 Cytoskeleton;Nucleus;Cell membrane NA 4 PE1 NX_Q9BSK1 54939 485 9.39 19 Nucleolus;Nucleus NA 0 PE1 NX_Q9BSK2 35375 321 9.65 1 Mitochondrion inner membrane NA 6 PE1 NX_Q9BSK4 73639 669 5.71 19 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9BSL1 45338 405 4.82 9 Cytosol;Cytoplasm;Cell membrane;Golgi apparatus NA 0 PE1 NX_Q9BSM1 30346 259 9.14 2 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BSN7 24540 226 8.1 16 Adherens junction;Cell membrane NA 4 PE2 NX_Q9BSQ5 48837 444 5.32 7 Mitochondrion;Cytoplasm Cerebral cavernous malformations 2 0 PE1 NX_Q9BSR8 27083 244 4.5 2 Cytoplasmic vesicle;cis-Golgi network membrane;Golgi apparatus;Endoplasmic reticulum;Cell membrane NA 5 PE1 NX_Q9BST9 62667 563 7.18 2 Nucleoplasm;Mitochondrion NA 0 PE1 NX_Q9BSU1 47524 422 7.64 16 Cytosol;Nucleus speckle NA 0 PE1 NX_Q9BSU3 25979 229 5.05 4 Cytoplasm;Nucleus NA 0 PE1 NX_Q9BSV6 33652 310 8.53 19 Nucleolus;Nucleus Pontocerebellar hypoplasia 2C 0 PE1 NX_Q9BSW2 45592 395 4.95 12 Cytoplasm NA 0 PE1 NX_Q9BSW7 53849 474 7.23 16 Cytosol;Nucleus;Membrane NA 0 PE1 NX_Q9BSY4 12395 110 6.28 2 Mitochondrion;Mitochondrion intermembrane space NA 0 PE1 NX_Q9BSY9 21444 194 4.86 1 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q9BT04 45679 418 5.9 19 Cytosol;Cytoplasm;Cytoskeleton;Cilium basal body NA 0 PE1 NX_Q9BT09 30748 278 5.36 6 Endoplasmic reticulum Epileptic encephalopathy, early infantile, 60 0 PE1 NX_Q9BT17 37237 334 9.54 10 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_Q9BT22 52518 464 6.8 16 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1K 1 PE1 NX_Q9BT23 14070 127 9.23 17 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_Q9BT25 44857 410 6.6 19 Cytoplasm;Spindle;Centrosome;Spindle pole NA 0 PE1 NX_Q9BT30 24516 221 6.61 19 Mitochondrion matrix NA 0 PE1 NX_Q9BT40 51090 448 6.07 17 Endoplasmic reticulum Muscular dystrophy, congenital, with cataracts and intellectual disability 0 PE1 NX_Q9BT43 25334 218 4.49 1 Nucleus NA 0 PE1 NX_Q9BT49 34414 309 9.54 22 Cytoplasmic vesicle;Nucleus;Chromosome NA 0 PE1 NX_Q9BT56 13302 116 9.73 12 Extracellular space;Secretory vesicle;Secreted NA 0 PE1 NX_Q9BT67 24899 221 4.55 5 Endosome membrane;Dendrite;Secreted;Golgi apparatus membrane;Synaptosome NA 3 PE1 NX_Q9BT73 13104 122 7.72 7 Cytoplasm NA 0 PE1 NX_Q9BT76 33882 320 6.33 7 Cytosol;Cytoplasmic vesicle;Nucleus;Cell membrane NA 1 PE1 NX_Q9BT78 46269 406 5.57 4 Cytoplasm;Synaptic vesicle;Nucleus;Nucleus speckle NA 0 PE1 NX_Q9BT81 42197 388 6.2 8 Cytoplasm;Nucleus;Golgi apparatus;Nucleus speckle NA 0 PE1 NX_Q9BT88 48297 431 9.15 1 Synaptic vesicle membrane;Synapse;Membrane NA 1 PE1 NX_Q9BT92 61072 498 6.2 12 Cytosol;Cytoplasm;Cell membrane;Desmosome;Mitochondrion;Cytoskeleton;Centrosome NA 0 PE1 NX_Q9BTA0 18414 163 5.28 1 Cytoskeleton NA 0 PE1 NX_Q9BTA9 70724 647 9.49 10 Nucleoplasm;Nucleus speckle;Nucleus DeSanto-Shinawi syndrome 0 PE1 NX_Q9BTC0 243873 2240 8.09 20 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleoplasm;Nucleus;Spindle NA 0 PE1 NX_Q9BTC8 67504 594 8.8 2 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9BTD1 13317 123 9.49 11 NA NA 0 PE5 NX_Q9BTD3 35814 319 9.39 14 Cytosol;Membrane NA 7 PE2 NX_Q9BTD8 50414 480 9.65 19 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9BTE0 23361 207 4.67 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9BTE1 20127 182 8.32 16 Kinetochore;Nucleoplasm;Cytoskeleton;Nucleus membrane NA 0 PE1 NX_Q9BTE3 72980 642 5.56 10 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BTE6 45480 412 6 17 Cytosol;Cytoplasm;Nucleus membrane NA 0 PE1 NX_Q9BTE7 27508 237 5.44 11 Nucleolus;Nucleus NA 0 PE1 NX_Q9BTF0 56433 503 7.92 2 Nucleoplasm NA 0 PE1 NX_Q9BTK2 4916 45 11.19 X NA NA 0 PE5 NX_Q9BTK6 27716 254 4.4 16 Nucleus NA 0 PE1 NX_Q9BTL3 14381 118 8.89 15 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BTL4 24196 223 6.46 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9BTM1 14019 129 10.9 12 Nucleus;Chromosome NA 0 PE1 NX_Q9BTM9 11380 101 4.54 9 Cytoplasmic vesicle;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q9BTN0 66260 628 6.88 19 Synapse;Cell membrane;Axon;Dendrite;Postsynaptic cell membrane;Presynaptic cell membrane NA 1 PE1 NX_Q9BTP6 25122 218 6.57 3 Mitochondrion;Cytosol;Nucleus NA 0 PE1 NX_Q9BTP7 23897 215 9.28 19 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9BTT0 30692 268 3.77 1 Cytoplasm;Nucleus NA 0 PE1 NX_Q9BTT4 15688 135 5.82 5 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BTT6 59242 524 4.94 6 Cytosol;Cytoplasm;Membrane NA 0 PE1 NX_Q9BTU6 54022 479 8.51 10 Synaptosome;Endosome;trans-Golgi network membrane;Cell membrane;Cytoplasmic vesicle;Dendrite;Presynaptic cell membrane;Membrane;Mitochondrion;Membrane raft NA 0 PE1 NX_Q9BTV4 44876 400 7.86 3 Nucleus inner membrane;Endoplasmic reticulum;Golgi apparatus Arrhythmogenic right ventricular dysplasia, familial, 5;Emery-Dreifuss muscular dystrophy 7, autosomal dominant 4 PE1 NX_Q9BTV5 55820 496 6.54 19 Cytoplasm;Nucleus;Centrosome;Cleavage furrow NA 0 PE1 NX_Q9BTV6 50575 452 6.11 9 Nucleus NA 0 PE1 NX_Q9BTV7 52235 478 9.84 20 Nucleus;Cell junction NA 0 PE1 NX_Q9BTW9 132600 1192 5.8 17 Cytoplasm;Lateral cell membrane;Centrosome;Tight junction;Adherens junction Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 0 PE1 NX_Q9BTX1 76305 674 9.22 1 Cytoskeleton;Cell membrane;Nucleus membrane;Nuclear pore complex NA 6 PE1 NX_Q9BTX3 19642 173 9.33 16 Endoplasmic reticulum membrane NA 3 PE1 NX_Q9BTX7 38515 342 6.03 20 Cytosol;Golgi apparatus NA 0 PE1 NX_Q9BTY2 54067 467 5.84 6 Secreted NA 0 PE1 NX_Q9BTY7 42129 390 4.73 8 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q9BTZ2 29537 278 8.81 14 Nucleus;Peroxisome NA 0 PE1 NX_Q9BU02 25566 230 4.75 14 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9BU19 56968 519 7.54 1 Nucleolus;Nucleus NA 0 PE1 NX_Q9BU20 28498 258 7.06 1 Nucleoplasm;Cilium basal body NA 0 PE1 NX_Q9BU23 79698 707 10.1 22 Endoplasmic reticulum membrane;Centrosome;Endoplasmic reticulum NA 11 PE1 NX_Q9BU40 51168 450 8.52 X Secreted Megalocornea 1, X-linked 0 PE1 NX_Q9BU61 20350 184 8.48 3 Nucleus;Mitochondrion inner membrane Mitochondrial complex I deficiency 0 PE1 NX_Q9BU64 33786 300 7.63 2 Kinetochore;Centromere;Nucleus NA 0 PE1 NX_Q9BU68 11705 103 9.49 17 Cytosol NA 0 PE1 NX_Q9BU70 48587 441 6.74 9 Nucleoplasm NA 0 PE1 NX_Q9BU76 29412 263 10.03 1 Cytosol;Nucleus speckle;Cell membrane NA 0 PE1 NX_Q9BU79 13391 118 8.4 7 Membrane NA 3 PE1 NX_Q9BU89 32904 302 4.74 19 Cytosol;Nucleus NA 0 PE1 NX_Q9BUA3 41037 381 4.92 11 Nucleus speckle NA 0 PE1 NX_Q9BUA6 25308 226 5.56 7 Mitochondrion NA 0 PE1 NX_Q9BUB4 55392 502 9.2 16 Nucleoplasm NA 0 PE1 NX_Q9BUB5 51342 465 6.26 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9BUB7 28969 260 9.02 8 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane Mitochondrial complex V deficiency, nuclear type 2 2 PE1 NX_Q9BUD6 35846 331 5.35 4 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 NX_Q9BUE0 23663 208 6.06 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BUE6 14179 129 9.19 9 Mitochondrion Multiple mitochondrial dysfunctions syndrome 5 0 PE1 NX_Q9BUF5 49857 446 4.77 18 Cytoskeleton Facial palsy, congenital, with ptosis and velopharyngeal dysfunction 0 PE1 NX_Q9BUF7 12854 120 9.96 19 Apical cell membrane;Cell junction;Tight junction NA 1 PE1 NX_Q9BUG6 55865 496 8.7 19 Nucleus NA 0 PE1 NX_Q9BUH6 21640 204 5.39 9 Nucleus NA 0 PE1 NX_Q9BUH8 64803 593 5.4 14 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Membrane NA 0 PE1 NX_Q9BUI4 60612 534 6.88 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BUJ0 29765 271 8.74 3 Cytoplasmic vesicle;Cytoplasm;Endoplasmic reticulum;Membrane NA 1 PE1 NX_Q9BUJ2 95739 856 6.49 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BUK0 10095 85 9.1 8 Cell junction;Mitochondrion intermembrane space NA 0 PE1 NX_Q9BUK6 61835 570 5.7 1 Cytosol;Cytoplasm;Nucleus;Nucleus membrane;Mitochondrion outer membrane Myopathy, mitochondrial, and ataxia 0 PE1 NX_Q9BUL5 43818 403 5.62 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9BUL8 24702 212 7.8 3 Cytoplasm;Golgi apparatus membrane;Cell membrane Cerebral cavernous malformations 3 0 PE1 NX_Q9BUL9 20632 199 9.66 15 Nucleoplasm;Nucleus;Microtubule organizing center NA 0 PE1 NX_Q9BUM1 38735 346 8.47 17 Endoplasmic reticulum membrane;Endoplasmic reticulum Neutropenia, severe congenital 4, autosomal recessive;Dursun syndrome 9 PE1 NX_Q9BUN1 36769 341 8.96 1 Secreted NA 0 PE1 NX_Q9BUN5 22037 200 5.23 1 Centrosome Bardet-Biedl syndrome 0 PE1 NX_Q9BUN8 28801 251 9.54 8 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 4 PE1 NX_Q9BUP0 26928 239 5.34 2 Nucleolus;Mitochondrion inner membrane;Golgi apparatus NA 0 PE1 NX_Q9BUP3 27049 242 8.58 11 Cytosol;Cytoplasm;Nucleus envelope NA 0 PE1 NX_Q9BUQ8 95583 820 9.58 12 Nucleolus;Nucleus NA 0 PE1 NX_Q9BUR4 59309 548 4.46 17 Cajal body;Nucleoplasm;Telomere;Cytosol;Nucleus;Chromosome Dyskeratosis congenita, autosomal recessive, 3 0 PE1 NX_Q9BUR5 22285 198 9.18 X Endoplasmic reticulum membrane;Secreted;Cytosol;Golgi apparatus membrane;Mitochondrion;Mitochondrion inner membrane NA 1 PE1 NX_Q9BUT1 26724 245 7.56 4 Cytosol;Cytoplasm NA 0 PE1 NX_Q9BUT9 17828 160 9.5 16 Stress granule;Cytoplasm;Nucleus NA 0 PE1 NX_Q9BUU2 44486 404 4.9 16 Nucleolus;Nucleus NA 0 PE1 NX_Q9BUV0 33613 290 11.76 1 Nucleoplasm NA 0 PE1 NX_Q9BUV8 15487 137 5.06 20 Cytosol NA 0 PE1 NX_Q9BUW7 9054 83 4.13 9 Cytoskeleton NA 0 PE1 NX_Q9BUX1 24418 222 5.05 15 Cytosol;trans-Golgi network NA 0 PE1 NX_Q9BUY5 63106 554 7.96 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BUY7 19225 163 8.59 14 Cytosol;Cell junction NA 0 PE1 NX_Q9BUZ4 53543 470 8.54 17 Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Cytoskeleton;Tight junction NA 0 PE1 NX_Q9BV10 54655 488 9.63 22 Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1G 12 PE1 NX_Q9BV19 21877 199 5.54 1 NA NA 0 PE1 NX_Q9BV20 39150 369 5.89 19 Nucleolus;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Cell projection NA 0 PE1 NX_Q9BV23 38331 337 8.67 3 Mitochondrion;Nucleoplasm;Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q9BV29 20656 185 4.42 15 Cytoplasmic vesicle;Nucleus speckle NA 0 PE1 NX_Q9BV35 52378 468 6.85 19 Mitochondrion;Mitochondrion inner membrane NA 6 PE1 NX_Q9BV36 65949 600 5.73 2 Cytoplasm Griscelli syndrome 3 0 PE1 NX_Q9BV38 47405 432 6.21 19 Nucleoplasm;Cytoplasm;Nucleolus NA 0 PE1 NX_Q9BV40 11438 100 6.73 2 Late endosome membrane;Lysosome membrane;Early endosome membrane;Cell membrane NA 1 PE1 NX_Q9BV44 57003 507 5.97 3 Cytosol;Nucleolus NA 0 PE1 NX_Q9BV47 23946 211 9.66 8 Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9BV57 21498 179 5.43 2 Nucleoplasm;Cytoplasm;Nucleus;Golgi apparatus;Cell membrane NA 0 PE1 NX_Q9BV68 35585 326 5.44 19 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q9BV73 281137 2442 5 20 Centriole;Perinuclear region;Centrosome;Cilium basal body NA 0 PE1 NX_Q9BV79 40462 373 8.99 1 Mitochondrion;Cytoplasm;Nucleus Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0 PE1 NX_Q9BV81 12017 110 10.08 17 Nucleus;Centrosome;Membrane NA 2 PE1 NX_Q9BV86 25387 223 5.32 9 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q9BV87 45456 410 5.47 2 Membrane NA 1 PE2 NX_Q9BV90 15270 132 7.75 16 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9BV94 64753 578 5.16 20 Endoplasmic reticulum lumen NA 0 PE1 NX_Q9BV97 20610 191 10.78 16 NA NA 0 PE1 NX_Q9BV99 28014 259 4.69 7 Nucleoplasm NA 0 PE1 NX_Q9BVA0 72334 655 7.51 16 Cytosol;Cytoplasm;Cell membrane;Spindle pole;Centrosome;Cytoskeleton;Spindle Lissencephaly 6, with microcephaly 0 PE1 NX_Q9BVA1 49953 445 4.78 6 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 7;Fetal akinesia deformation sequence 0 PE1 NX_Q9BVA6 51778 458 7.31 12 Endoplasmic reticulum membrane;Nucleus NA 1 PE1 NX_Q9BVC3 44825 393 5.05 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BVC4 35876 326 5.5 16 Nucleoplasm;Cytoplasm;Cell junction;Golgi apparatus NA 0 PE1 NX_Q9BVC5 25858 232 9.76 2 Mitochondrion;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q9BVC6 26210 243 10.48 11 Endoplasmic reticulum membrane;Cytosol;Sarcoplasmic reticulum membrane;Nucleus membrane;Nucleus outer membrane NA 3 PE1 NX_Q9BVG3 54268 475 6.17 1 Cytoplasmic vesicle;Cytoplasm;Focal adhesion NA 0 PE1 NX_Q9BVG4 26057 233 4.72 X Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9BVG8 92775 833 7.62 16 Adherens junction;Cytoplasmic vesicle membrane;Centrosome NA 0 PE1 NX_Q9BVG9 56253 487 5.86 11 Endoplasmic reticulum membrane NA 7 PE1 NX_Q9BVH7 38443 336 9.56 1 Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 NX_Q9BVI0 115386 1012 6.55 20 Nucleoplasm;Cytosol;Nucleus;Nucleus membrane NA 0 PE1 NX_Q9BVI4 58468 516 7.08 12 Nucleolus;Nucleus;Nucleus membrane NA 3 PE1 NX_Q9BVJ6 87978 771 7.67 X Nucleolus NA 0 PE1 NX_Q9BVJ7 16588 150 8.44 1 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BVK2 60088 526 9.28 11 Endoplasmic reticulum membrane;Nucleoplasm Polycystic liver disease 3 with or without kidney cysts;Congenital disorder of glycosylation 1H 11 PE1 NX_Q9BVK6 27277 235 7.81 5 Endoplasmic reticulum membrane;cis-Golgi network membrane;trans-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE1 NX_Q9BVK8 25261 224 7.61 19 Endoplasmic reticulum membrane;Cytosol;Cytoskeleton;Golgi apparatus NA 6 PE1 NX_Q9BVL2 60897 599 9.36 13 Mitochondrion;Cytosol;Nuclear pore complex;Cell membrane;Nucleus membrane NA 0 PE1 NX_Q9BVL4 73489 669 5.69 22 Mitochondrion NA 0 PE1 NX_Q9BVM2 23240 203 9.11 10 Nucleus speckle NA 0 PE1 NX_Q9BVM4 17329 153 6.37 13 NA NA 0 PE1 NX_Q9BVN2 96444 902 5.9 1 Golgi apparatus;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Early endosome;Postsynaptic density;Cytoskeleton NA 0 PE1 NX_Q9BVP2 61993 549 9.23 3 Nucleolus;Nucleus NA 0 PE1 NX_Q9BVQ7 80710 753 8.42 15 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9BVR0 128943 1158 6.45 15 NA NA 0 PE5 NX_Q9BVS4 63283 552 5.66 5 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9BVS5 52965 477 6.17 2 Mitochondrion;Cytosol NA 0 PE1 NX_Q9BVT8 26261 246 5.44 7 Nucleolus;Cytosol;Cytoplasm;Nucleoplasm;Postsynaptic cell membrane;Membrane;Nucleus;Recycling endosome;Centrosome NA 3 PE1 NX_Q9BVV2 36526 318 8.82 20 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 NX_Q9BVV6 169307 1533 5.37 14 Cytosol;Centriole;Nucleoplasm;Photoreceptor inner segment;Centrosome;Cilium basal body Short-rib thoracic dysplasia 14 with polydactyly;Joubert syndrome 23 0 PE1 NX_Q9BVV7 28202 248 9.73 18 Nucleoplasm;Mitochondrion membrane NA 1 PE1 NX_Q9BVV8 14249 132 9.23 19 Nucleus speckle;Golgi apparatus;Membrane NA 1 PE1 NX_Q9BVW5 34555 301 4.73 15 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_Q9BVW6 9520 85 5.19 13 Membrane NA 1 PE1 NX_Q9BVX2 27875 250 6.3 12 Endoplasmic reticulum membrane;Membrane NA 2 PE1 NX_Q9BW04 63964 601 8.78 1 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9BW11 23477 206 9.32 5 Nucleolus;Nucleus NA 0 PE1 NX_Q9BW19 73748 673 9.15 6 Spindle;Nucleus;Centrosome;Early endosome NA 0 PE1 NX_Q9BW27 75019 656 5.36 17 Kinetochore;Nucleus membrane;Cytosol;Cytoplasm;Nuclear pore complex;Nucleus;Spindle NA 0 PE1 NX_Q9BW30 18985 176 9.19 16 Cytoskeleton;Nucleolus NA 0 PE1 NX_Q9BW60 32663 279 9.62 1 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 7 PE1 NX_Q9BW61 11835 102 8.73 19 Nucleolus;Nucleus NA 0 PE1 NX_Q9BW62 55392 490 6.35 13 Cytoskeleton;Cytosol;Cytoplasm;Nucleoplasm;Spindle;Spindle pole NA 0 PE1 NX_Q9BW66 24324 212 5.87 14 Nucleus NA 0 PE1 NX_Q9BW71 61957 556 8.71 16 Nucleus NA 0 PE1 NX_Q9BW72 11529 106 10.21 5 Mitochondrion inner membrane;Mitochondrion membrane NA 2 PE1 NX_Q9BW83 20480 186 5.28 22 Nucleoplasm;Cytoplasm;Mitochondrion;Flagellum;Cilium Bardet-Biedl syndrome 19 0 PE1 NX_Q9BW85 37086 323 5.75 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BW91 39125 350 8.26 4 Mitochondrion NA 0 PE1 NX_Q9BW92 81036 718 6.9 1 Mitochondrion matrix;Nucleoplasm;Cytoskeleton;Cytosol Combined oxidative phosphorylation deficiency 21 0 PE1 NX_Q9BWC9 32032 280 9.47 19 Cytosol;Nucleus NA 0 PE1 NX_Q9BWD1 41351 397 6.47 6 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9BWD3 13188 113 4.94 X NA NA 0 PE1 NX_Q9BWE0 63575 567 10.05 7 Nucleus NA 0 PE1 NX_Q9BWF2 53294 469 8.75 3 Nucleolus;Cytosol;Cytoplasm;Cell membrane;Perinuclear region;Nucleus Seckel syndrome 9 0 PE1 NX_Q9BWF3 40314 364 6.61 11 Cytoplasmic granule;Nucleolus;Nucleus;Nucleus speckle;Cytoplasm NA 0 PE1 NX_Q9BWG4 39388 385 6.3 19 Nucleus NA 0 PE1 NX_Q9BWG6 25949 230 9.03 1 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_Q9BWH2 20676 189 9.74 X Mitochondrion NA 0 PE1 NX_Q9BWH6 152755 1393 5.95 15 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BWJ2 6658 59 6.1 8 NA NA 0 PE5 NX_Q9BWJ5 10135 86 5.89 6 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BWK5 16829 157 5.16 7 Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9BWL3 28779 253 9.61 1 Membrane NA 1 PE1 NX_Q9BWM5 67188 594 8.33 19 Cytosol;Nucleus NA 0 PE1 NX_Q9BWM7 35503 321 9.26 10 Mitochondrion;Mitochondrion membrane NA 4 PE1 NX_Q9BWN1 64328 585 10.35 16 Nucleoplasm;Nucleus;Chromosome;Nucleus lamina NA 0 PE1 NX_Q9BWP8 28665 271 5.26 2 Secreted 3MC syndrome 2 0 PE1 NX_Q9BWQ6 35151 316 5.43 19 Mitochondrion;cis-Golgi network membrane;Late endosome membrane;trans-Golgi network membrane;Golgi apparatus NA 5 PE1 NX_Q9BWQ8 35110 316 6.06 12 Cytoskeleton;Postsynaptic cell membrane;Membrane raft;Cell membrane NA 7 PE1 NX_Q9BWS9 44941 393 8.74 11 Nucleoplasm;Cytoskeleton;Lysosome;Secreted NA 0 PE1 NX_Q9BWT1 42573 371 9.57 2 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Immunodeficiency-centromeric instability-facial anomalies syndrome 3 0 PE1 NX_Q9BWT3 82803 736 9.21 2 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BWT6 23753 205 8.28 4 Nucleus NA 0 PE1 NX_Q9BWT7 115931 1032 5.74 22 Cytosol;Cytoplasm;Cytoskeleton;Cytoplasmic vesicle NA 0 PE1 NX_Q9BWU0 88814 796 5.11 2 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 NX_Q9BWU1 56802 502 8.66 6 Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 NX_Q9BWV1 121059 1114 6.58 3 Nucleoplasm;Cell membrane NA 1 PE1 NX_Q9BWV2 28740 254 9.53 5 Mitochondrion;Membrane NA 1 PE1 NX_Q9BWV3 58455 514 8.34 13 Nucleoplasm NA 0 PE1 NX_Q9BWV7 67336 592 9 6 Nucleolus;Nucleus membrane NA 0 PE1 NX_Q9BWW4 40421 388 6.4 1 Nucleus NA 0 PE1 NX_Q9BWW7 35570 348 9.56 8 Nucleus NA 0 PE1 NX_Q9BWW8 38128 343 8.58 22 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9BWW9 47044 433 9.39 22 Cytoplasm NA 0 PE2 NX_Q9BWX1 43767 381 8.58 3 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9BWX5 41299 397 9.17 20 Nucleoplasm;Cytosol;Nucleus Congenital heart defects, multiple types, 5 0 PE1 NX_Q9BX10 65768 602 8.32 6 Cytoplasmic vesicle;Cytoplasm Jaberi-Elahi syndrome 0 PE1 NX_Q9BX26 175639 1530 9.01 20 Cytosol;Nucleoplasm;Nucleus;Cell membrane;Chromosome NA 0 PE1 NX_Q9BX40 42071 385 9.69 20 Cytoplasmic vesicle;Nucleolus NA 0 PE1 NX_Q9BX46 24776 236 8.52 6 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 NX_Q9BX51 24274 225 5 20 NA NA 0 PE2 NX_Q9BX59 50183 468 5.12 12 Endoplasmic reticulum membrane;Microsome membrane;Golgi apparatus membrane;Cell membrane NA 1 PE1 NX_Q9BX63 140867 1249 6.49 17 Cytoplasm;Nucleus;Nucleus membrane Fanconi anemia complementation group J;Breast cancer 0 PE1 NX_Q9BX66 142513 1292 6.4 10 Cell membrane;Focal adhesion;Nucleus;Nucleus matrix;Adherens junction;Cytoskeleton;Centrosome NA 0 PE1 NX_Q9BX67 35020 310 7.53 11 Golgi apparatus;Secreted;Cell membrane;Desmosome;Cell junction;Tight junction Hemorrhagic destruction of the brain with subependymal calcification and cataracts 1 PE1 NX_Q9BX68 17162 163 9.2 9 Mitochondrion NA 0 PE1 NX_Q9BX69 116468 1037 5.98 5 Cytosol;Focal adhesion NA 0 PE1 NX_Q9BX70 55931 525 5.63 19 Cytoplasm NA 0 PE1 NX_Q9BX73 22871 214 4.83 8 Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Membrane NA 2 PE1 NX_Q9BX74 22327 207 6.09 1 Membrane NA 2 PE1 NX_Q9BX79 73503 667 9.18 15 Cytosol;Nucleus;Cell membrane Microphthalmia, syndromic, 9 9 PE1 NX_Q9BX82 73009 626 8.88 19 Nucleus NA 0 PE1 NX_Q9BX84 231708 2022 7.86 9 Cell membrane Hypomagnesemia 1 6 PE1 NX_Q9BX93 21659 195 5.75 10 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q9BX95 49108 441 9.08 14 Endoplasmic reticulum membrane;Nucleus;Cell membrane NA 9 PE1 NX_Q9BX97 50594 442 9.01 19 Caveola;Perinuclear region;Cell membrane NA 1 PE1 NX_Q9BXA5 38698 334 9.14 3 Cell membrane NA 7 PE1 NX_Q9BXA6 30331 273 9.24 19 NA NA 0 PE1 NX_Q9BXA7 41618 367 7.6 5 Cytoplasm;Flagellum;Acrosome NA 0 PE1 NX_Q9BXA9 135346 1300 6.56 18 Nucleus NA 0 PE1 NX_Q9BXB1 104475 951 5.78 11 Cell membrane;Microtubule organizing center Osteoporosis 7 PE1 NX_Q9BXB4 83643 747 6.6 3 Nucleoplasm;Late endosome membrane;trans-Golgi network membrane;Golgi apparatus NA 0 PE1 NX_Q9BXB5 83970 764 8.56 3 Cytosol;Cytoskeleton;Cell membrane;Golgi apparatus NA 0 PE1 NX_Q9BXB7 65263 569 9.21 3 Golgi apparatus Spermatogenic failure 6 0 PE1 NX_Q9BXC0 39295 346 9.14 12 Cell membrane NA 7 PE1 NX_Q9BXC1 38503 333 8.73 X Cytoplasmic vesicle;Cell membrane NA 7 PE2 NX_Q9BXC9 79871 721 5.74 16 Cytoplasm;Centriolar satellite;Cilium membrane Retinitis pigmentosa 74;Bardet-Biedl syndrome 2 0 PE1 NX_Q9BXD5 35163 320 5.4 1 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9BXE9 34713 311 9.83 16 Cell membrane NA 7 PE2 NX_Q9BXF3 164213 1484 6.51 22 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9BXF6 70415 653 9.28 2 Recycling endosome membrane;Cytoplasm;Early endosome membrane;Microtubule organizing center;Cytoplasmic vesicle;Golgi apparatus membrane;Secretory vesicle membrane;Mitochondrion membrane NA 0 PE1 NX_Q9BXF9 56636 490 6.93 17 Acrosome outer membrane;Flagellum NA 0 PE1 NX_Q9BXG8 49445 430 7.21 5 Cytoplasm;Nucleus NA 0 PE1 NX_Q9BXH1 20532 193 9.09 19 Mitochondrion;Cytosol NA 0 PE1 NX_Q9BXI2 32580 301 9.22 5 Mitochondrion inner membrane NA 6 PE1 NX_Q9BXI3 41021 368 6.11 1 Cytoplasm NA 0 PE1 NX_Q9BXI6 57118 508 8.69 22 Microvillus;Cell membrane NA 0 PE1 NX_Q9BXI9 30861 278 5.92 22 Nucleus;Secreted NA 0 PE1 NX_Q9BXJ0 25298 243 6.05 11 Secreted Late-onset retinal degeneration 0 PE1 NX_Q9BXJ1 31743 281 6.42 17 Secreted NA 0 PE1 NX_Q9BXJ2 30683 289 5.11 4 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q9BXJ3 35256 329 8.38 11 Secreted NA 0 PE1 NX_Q9BXJ4 26994 246 6.04 5 Golgi apparatus;Secreted NA 0 PE1 NX_Q9BXJ5 29952 285 9.04 5 Secreted NA 0 PE1 NX_Q9BXJ7 47754 453 5.76 14 Endosome;Coated pit;Apical cell membrane;Cell membrane Recessive hereditary megaloblastic anemia 1 1 PE1 NX_Q9BXJ8 40610 343 9.14 7 Nucleus inner membrane NA 5 PE1 NX_Q9BXJ9 101272 866 7.23 4 Cytosol;Cytoplasm;Nucleus Mental retardation, autosomal dominant 50 0 PE1 NX_Q9BXK1 25431 252 9.95 19 Nucleus NA 0 PE1 NX_Q9BXK5 52723 485 4.41 22 Mitochondrion;Nucleus;Mitochondrion membrane NA 1 PE1 NX_Q9BXL5 55341 484 4.82 9 Nucleus NA 0 PE1 NX_Q9BXL6 113270 1004 5.65 17 Cytoplasm Psoriasis 2;Pityriasis rubra pilaris 0 PE1 NX_Q9BXL7 133284 1154 5.78 7 Cytoplasm;Membrane raft Immunodeficiency 11 A;B-cell expansion with NFKB and T-cell anergy;Immunodeficiency 11B with atopic dermatitis 0 PE1 NX_Q9BXL8 26114 241 4.86 14 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q9BXM0 154905 1461 7.22 19 Golgi apparatus;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Cell junction Charcot-Marie-Tooth disease 4F;Dejerine-Sottas syndrome 0 PE1 NX_Q9BXM7 62769 581 9.43 1 Cytosol;Mitochondrion inner membrane;Mitochondrion outer membrane Parkinson disease 6 1 PE1 NX_Q9BXM9 59578 530 5.86 9 Cytoskeleton;Cell membrane NA 0 PE1 NX_Q9BXN1 43417 380 6.61 9 Nucleoplasm;Extracellular matrix Intervertebral disc disease;Osteoarthritis 3 0 PE1 NX_Q9BXN2 27627 247 5.21 12 Cytoplasmic vesicle;Cytoplasm;Cell membrane;Nucleoplasm Candidiasis, familial, 4 1 PE1 NX_Q9BXN6 11029 97 5.87 X Cytoplasm;Nucleus NA 0 PE1 NX_Q9BXP2 96110 914 8.35 7 Cell membrane NA 12 PE1 NX_Q9BXP5 100666 876 5.7 7 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q9BXP8 198539 1791 5.26 1 Cytoplasmic vesicle;Endoplasmic reticulum;Secreted NA 0 PE1 NX_Q9BXQ6 58425 578 9.35 22 Cytoplasmic vesicle;Nucleoplasm;Cell membrane NA 0 PE1 NX_Q9BXR0 44048 403 6.82 19 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA 0 PE1 NX_Q9BXR3 107688 956 9.07 7 NA NA 0 PE2 NX_Q9BXR5 94564 811 6.32 4 Membrane NA 1 PE1 NX_Q9BXR6 64419 569 6.81 1 Secreted CFHR5 deficiency 0 PE1 NX_Q9BXS0 64771 654 8.6 4 Cytoplasmic vesicle;Cytosol;Endoplasmic reticulum;Membrane Fibrosis of extraocular muscles, congenital, 5 1 PE1 NX_Q9BXS1 26753 227 6.01 10 Peroxisome NA 0 PE1 NX_Q9BXS4 36223 323 5 1 Late endosome membrane;Lysosome membrane;Golgi apparatus membrane;Cell membrane NA 1 PE1 NX_Q9BXS5 48587 423 6.82 19 Clathrin-coated vesicle membrane;Golgi apparatus NA 0 PE1 NX_Q9BXS6 49452 441 9.92 15 Cytoplasm;Spindle;Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_Q9BXS9 82967 759 8.57 3 Apical cell membrane;Basolateral cell membrane;Cytosol;Microsome;Cell membrane;Membrane;Cytoplasmic vesicle membrane NA 8 PE1 NX_Q9BXT2 28129 260 9.4 19 Cytosol;Nucleolus;Cell membrane NA 4 PE1 NX_Q9BXT4 132024 1180 5.96 10 Cytoplasm NA 0 PE1 NX_Q9BXT5 315336 2789 5.81 8 Cytoplasm;Nucleus;Nucleus speckle Spermatogenic failure 25 0 PE1 NX_Q9BXT6 135293 1211 6.07 22 Cytoplasm NA 0 PE1 NX_Q9BXT8 184643 1623 5.27 13 Cytoplasm;Nucleus NA 0 PE1 NX_Q9BXU0 14107 123 5.22 11 NA NA 0 PE1 NX_Q9BXU1 115694 1019 5.04 7 NA NA 0 PE1 NX_Q9BXU2 33967 312 5.79 X NA NA 0 PE1 NX_Q9BXU3 45583 409 5.36 X NA NA 0 PE1 NX_Q9BXU7 104047 913 8.91 X Nucleus NA 0 PE1 NX_Q9BXU8 21142 183 6.05 X NA NA 0 PE1 NX_Q9BXU9 24837 219 4.76 7 Cytoplasmic vesicle;Perinuclear region;trans-Golgi network membrane;Cell membrane NA 1 PE2 NX_Q9BXV9 10859 100 4.08 14 Nucleolus;Nucleus NA 0 PE1 NX_Q9BXW3 6988 62 4.63 1 NA NA 0 PE5 NX_Q9BXW4 16852 147 9.14 1 Cytosol;Autophagosome membrane;Cytoskeleton;Autophagosome;Endomembrane system NA 0 PE1 NX_Q9BXW6 108470 950 5.96 18 Cytosol;Nucleoplasm;Late endosome NA 0 PE1 NX_Q9BXW7 46321 423 8.38 22 Mitochondrion NA 0 PE1 NX_Q9BXW9 164128 1451 5.58 3 Cytosol;Nucleolus;Nucleus Fanconi anemia complementation group D2 0 PE1 NX_Q9BXX0 115687 1053 6.04 18 Extracellular matrix NA 0 PE1 NX_Q9BXX2 158049 1392 6.01 18 NA NA 0 PE2 NX_Q9BXX3 158835 1397 6.08 10 NA NA 0 PE1 NX_Q9BXY0 35369 300 5.27 8 Cytoplasmic vesicle;Nucleolus NA 0 PE1 NX_Q9BXY4 30929 272 9.53 6 Secreted NA 0 PE1 NX_Q9BXY5 63835 557 8.87 12 Nucleolus;Nucleus;Centrosome NA 0 PE2 NX_Q9BXY8 15321 128 5.89 X Cytoplasm;Nucleus NA 0 PE1 NX_Q9BY07 126255 1137 8.1 2 Apical cell membrane NA 12 PE1 NX_Q9BY08 23204 206 5.91 13 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 4 PE1 NX_Q9BY10 51067 475 9.18 9 Cell membrane NA 12 PE2 NX_Q9BY11 50966 444 5.15 6 Synaptosome;Synapse;Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleus;Ruffle membrane;Membrane;Cytoplasmic vesicle membrane;Cell projection NA 0 PE1 NX_Q9BY12 158287 1400 7.21 15 Cytosol;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q9BY14 26667 249 4.9 19 Cytoplasmic vesicle;Cell membrane;Membrane raft;Acrosome;Secreted NA 0 PE1 NX_Q9BY15 72621 652 8.41 19 Cell membrane;Secreted NA 7 PE1 NX_Q9BY19 26290 250 5.76 11 Membrane NA 4 PE2 NX_Q9BY21 41436 358 9.55 3 Mitochondrion;Nucleoplasm;Lipid droplet;Cell membrane NA 7 PE2 NX_Q9BY27 24932 220 7.02 22 Nucleus NA 0 PE1 NX_Q9BY31 105251 904 8.91 3 Nucleus NA 0 PE1 NX_Q9BY32 21446 194 5.5 20 Cytosol;Cytoplasm Inosine triphosphate pyrophosphohydrolase deficiency;Epileptic encephalopathy, early infantile, 35 0 PE1 NX_Q9BY41 41758 377 5.36 X Cytoplasm;Nucleus;Cell membrane Wilson-Turner X-linked mental retardation syndrome;Cornelia de Lange syndrome 5 0 PE1 NX_Q9BY42 33887 306 8.87 20 Nucleolus;Nucleus NA 0 PE1 NX_Q9BY43 25098 222 4.65 14 Cytoplasmic vesicle membrane;Late endosome membrane NA 0 PE1 NX_Q9BY44 64990 585 9 3 Cytosol;Mitochondrion NA 0 PE1 NX_Q9BY49 32544 303 8.97 2 Peroxisome NA 0 PE1 NX_Q9BY50 21542 192 9.2 18 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_Q9BY60 13976 117 8.71 15 Autophagosome membrane;Cytoskeleton NA 0 PE2 NX_Q9BY64 60906 529 8.84 4 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_Q9BY65 11990 106 7.72 3 NA NA 0 PE4 NX_Q9BY66 174073 1539 5.59 Y Nucleolus;Nucleus NA 0 PE1 NX_Q9BY67 48509 442 4.94 11 Synapse;Cell junction;Cell membrane NA 1 PE1 NX_Q9BY71 28108 257 6.45 21 Membrane NA 1 PE1 NX_Q9BY76 45214 406 9.07 19 Cytoplasmic vesicle;Nucleoplasm;Secreted;Extracellular matrix NA 0 PE1 NX_Q9BY77 46089 421 10 22 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q9BY78 47737 433 8.86 11 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Cytosol;Nucleoplasm NA 5 PE1 NX_Q9BY79 62212 579 4.84 11 Apical cell membrane Microphthalmia, isolated, 5;Nanophthalmos 2 1 PE1 NX_Q9BY84 73102 665 7.24 12 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9BY89 196711 1806 8.69 22 Cytoskeleton NA 0 PE1 NX_Q9BYB0 184667 1731 8.99 22 Postsynaptic density;Dendritic spine;Cytoplasm Phelan-McDermid syndrome;Schizophrenia 15 0 PE1 NX_Q9BYB4 35618 327 8.27 22 Cytosol NA 0 PE1 NX_Q9BYC2 56140 517 6.73 1 Mitochondrion NA 0 PE1 NX_Q9BYC5 66516 575 7.36 14 Cytosol;Golgi stack membrane;Golgi apparatus Congenital disorder of glycosylation with defective fucosylation 1 PE1 NX_Q9BYC8 21405 188 9.78 7 Mitochondrion NA 0 PE1 NX_Q9BYC9 17443 149 10.87 1 Mitochondrion NA 0 PE1 NX_Q9BYD1 20692 178 9.18 8 Mitochondrion NA 0 PE1 NX_Q9BYD2 30243 267 10.09 1 Mitochondrion NA 0 PE1 NX_Q9BYD3 34919 311 9.73 19 Cytosol;Mitochondrion;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q9BYD5 12376 112 5.7 19 Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q9BYD6 36909 325 8.88 4 Mitochondrion NA 0 PE1 NX_Q9BYD9 41008 372 5.53 3 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9BYE0 24899 225 10.49 17 Nucleoplasm;Nucleus Spondylocostal dysostosis 4, autosomal recessive 0 PE1 NX_Q9BYE2 63153 586 8.96 11 Membrane NA 1 PE1 NX_Q9BYE3 9444 92 9.03 1 NA NA 0 PE1 NX_Q9BYE4 8158 73 8.3 1 Cytoplasm NA 0 PE1 NX_Q9BYE7 39047 350 4.92 10 Nucleus NA 0 PE1 NX_Q9BYE9 141543 1310 4.31 5 Microvillus membrane;Apical cell membrane;Cell junction NA 1 PE1 NX_Q9BYF1 92463 805 5.36 X Cytoplasm;Cell membrane;Secreted NA 1 PE1 NX_Q9BYG0 44053 378 8 3 Nucleolus;Golgi apparatus membrane NA 1 PE1 NX_Q9BYG3 34222 293 9.88 2 Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_Q9BYG4 40883 376 8.36 18 Cytoplasm;Cell membrane;Tight junction NA 0 PE1 NX_Q9BYG5 41182 372 5.37 20 Cytosol;Cytoplasm;Tight junction;Cell membrane NA 0 PE1 NX_Q9BYG7 29054 248 9.93 18 Nucleolus NA 0 PE2 NX_Q9BYG8 57692 508 5.55 8 Mitochondrion;Cytosol;Cell membrane NA 0 PE1 NX_Q9BYH1 111782 1024 4.68 22 Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 1 PE1 NX_Q9BYH8 78061 718 6.15 3 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 NX_Q9BYI3 57625 521 8.45 7 Cytosol;Cell membrane Leukodystrophy, hypomyelinating, 5 0 PE1 NX_Q9BYJ0 24581 223 9.15 4 Extracellular space NA 0 PE1 NX_Q9BYJ1 80543 711 6.53 17 Cytosol;Cytoplasm;Cell membrane Ichthyosis, congenital, autosomal recessive 3 0 PE1 NX_Q9BYJ4 56864 488 7.43 11 Cytoplasm;Nucleolus;Centrosome NA 0 PE1 NX_Q9BYJ9 60874 559 8.86 20 Cytoplasm NA 0 PE1 NX_Q9BYK8 294651 2649 7.36 20 Nucleus NA 0 PE1 NX_Q9BYL1 22770 202 10.02 20 Nucleoplasm NA 0 PE1 NX_Q9BYM8 57572 510 5.47 20 NA Polyglucosan body myopathy 1 with or without immunodeficiency 0 PE1 NX_Q9BYN0 14259 137 7.92 20 Cytoplasm;Nucleus NA 0 PE1 NX_Q9BYN7 92728 854 9.11 20 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9BYN8 24212 205 10.39 20 Mitochondrion NA 0 PE1 NX_Q9BYP7 198416 1800 5.77 X Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q9BYP8 9504 105 3.83 17 NA NA 0 PE3 NX_Q9BYP9 16266 154 8.22 17 NA NA 0 PE1 NX_Q9BYQ0 16723 159 8.04 17 NA NA 0 PE1 NX_Q9BYQ2 16378 154 7.95 17 NA NA 0 PE1 NX_Q9BYQ3 16854 159 7.93 17 NA NA 0 PE1 NX_Q9BYQ4 18287 174 8.15 17 NA NA 0 PE1 NX_Q9BYQ5 21825 205 8.43 17 NA NA 0 PE1 NX_Q9BYQ6 20927 195 8.4 17 NA NA 0 PE1 NX_Q9BYQ7 15241 146 8.15 17 NA NA 0 PE1 NX_Q9BYQ8 22405 210 8.29 17 NA NA 0 PE1 NX_Q9BYQ9 19627 185 8.21 17 NA NA 0 PE1 NX_Q9BYR0 22535 210 8.31 17 NA NA 0 PE1 NX_Q9BYR2 19363 181 8.25 17 NA NA 0 PE1 NX_Q9BYR3 18023 166 8.39 17 NA NA 0 PE1 NX_Q9BYR4 20504 195 8.43 17 NA NA 0 PE1 NX_Q9BYR5 14462 136 8.31 17 NA NA 0 PE1 NX_Q9BYR6 10365 98 5.4 17 NA NA 0 PE1 NX_Q9BYR7 10407 98 5.4 17 NA NA 0 PE1 NX_Q9BYR8 10539 98 5.99 17 NA NA 0 PE1 NX_Q9BYR9 13480 128 8.32 17 NA NA 0 PE1 NX_Q9BYS1 18010 174 6.59 17 NA NA 0 PE1 NX_Q9BYS8 42943 371 5.79 3 NA NA 0 PE1 NX_Q9BYT1 47482 436 7.96 20 Nucleoplasm;Membrane Porokeratosis 8, disseminated superficial actinic type 10 PE1 NX_Q9BYT3 57831 514 6.6 11 Cytosol;Perinuclear region;Nucleolus;Nucleus NA 0 PE1 NX_Q9BYT5 12957 123 8.26 17 NA NA 0 PE2 NX_Q9BYT8 80652 704 6.21 5 Mitochondrion;Cytoplasm;Mitochondrion intermembrane space NA 0 PE1 NX_Q9BYT9 114657 981 8.87 11 Cell membrane Dystonia 24 8 PE1 NX_Q9BYU1 40854 374 9.05 19 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9BYU5 13514 128 8.32 17 NA NA 0 PE2 NX_Q9BYV1 57156 514 8.08 5 Mitochondrion NA 0 PE1 NX_Q9BYV2 40301 358 5.15 2 Cytoskeleton;Z line NA 0 PE1 NX_Q9BYV6 60466 548 4.74 8 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9BYV7 65674 579 8.65 11 Mitochondrion NA 0 PE1 NX_Q9BYV8 41368 373 8.46 7 Cilium basal body;Centrosome;Cilium Joubert syndrome 15 0 PE1 NX_Q9BYV9 92537 841 5 6 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9BYW1 53703 496 8.57 22 Nucleus;Cell junction;Cell membrane NA 12 PE2 NX_Q9BYW2 287597 2564 5.8 3 Cytosol;Nucleus speckle;Nucleus;Chromosome Luscan-Lumish syndrome;Leukemia, acute myelogenous;Leukemia, acute lymphoblastic;Renal cell carcinoma 0 PE1 NX_Q9BYW3 12174 111 9.47 20 Secreted NA 0 PE1 NX_Q9BYX2 105414 928 6.15 9 Cytosol;Cytoplasmic vesicle;Nucleus;Cell junction;Cytoplasm NA 0 PE1 NX_Q9BYX4 116689 1025 5.38 2 Cytoplasm;Nucleus Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1;Diabetes mellitus, insulin-dependent, 19 0 PE1 NX_Q9BYX7 42016 375 5.91 2 Cytoskeleton NA 0 PE5 NX_Q9BYZ2 41943 381 8.88 15 NA NA 0 PE1 NX_Q9BYZ6 82626 727 6.27 8 Cell membrane Epileptic encephalopathy, early infantile, 64 0 PE1 NX_Q9BYZ8 18230 158 9.33 1 Secreted NA 0 PE1 NX_Q9BZ11 87739 813 6.54 20 Nucleus speckle;Cell membrane;Membrane Asthma 1 PE1 NX_Q9BZ19 37630 345 9.2 20 NA NA 0 PE4 NX_Q9BZ23 62681 570 9.39 20 Cytosol;Cytoplasm;Mitochondrion Neurodegeneration with brain iron accumulation 1;Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 0 PE1 NX_Q9BZ29 236446 2069 7.25 13 Endomembrane system NA 0 PE1 NX_Q9BZ67 51218 464 5.83 11 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q9BZ68 41136 369 5.54 X NA NA 0 PE5 NX_Q9BZ71 106781 974 6.69 17 Cell membrane;Endomembrane system Cone-rod dystrophy 5 0 PE1 NX_Q9BZ72 148933 1349 6.72 12 Cytoplasmic vesicle;Endomembrane system NA 0 PE1 NX_Q9BZ76 140690 1288 8.02 9 Cell membrane;Secreted NA 1 PE1 NX_Q9BZ81 31906 275 7.56 X NA NA 0 PE2 NX_Q9BZ95 161613 1437 8.57 8 Mitochondrion;Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q9BZ97 6256 58 4.45 Y Membrane NA 1 PE5 NX_Q9BZ98 10490 90 9.55 Y NA NA 0 PE5 NX_Q9BZA0 7782 68 9.63 Y NA NA 0 PE5 NX_Q9BZA5 14632 131 5.22 Y NA NA 0 PE5 NX_Q9BZA7 147558 1347 5.04 X Cell membrane NA 1 PE1 NX_Q9BZA8 146775 1340 5.03 Y Cell membrane NA 1 PE1 NX_Q9BZB8 62595 566 7.55 15 Nucleoplasm;Synapse;P-body;Dendrite;Cytosol;Cytoplasm;Cytoplasmic granule;Nucleus;Membrane;Postsynaptic density NA 0 PE1 NX_Q9BZC1 51966 486 8.11 18 Cytoplasm;Nucleus NA 0 PE1 NX_Q9BZC7 269833 2435 6.37 9 Endosome membrane;Lysosome membrane NA 14 PE1 NX_Q9BZD2 51815 475 7.95 10 Cytoplasmic vesicle;Late endosome membrane;Lysosome membrane;Golgi apparatus;Membrane Histiocytosis-lymphadenopathy plus syndrome 11 PE1 NX_Q9BZD3 41713 368 6.36 4 NA NA 0 PE5 NX_Q9BZD4 54304 464 8.41 1 Kinetochore;Nucleus NA 0 PE1 NX_Q9BZD6 25403 226 7.08 11 Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus NA 1 PE1 NX_Q9BZD7 25875 231 5.75 X Membrane NA 1 PE2 NX_Q9BZE0 55689 524 9.08 16 Cytosol;Cytoplasm;Nucleoplasm;Cell membrane;Nucleus speckle Nephronophthisis 7 0 PE1 NX_Q9BZE1 48117 423 8.83 1 Mitochondrion;Cytoplasm NA 0 PE1 NX_Q9BZE2 55647 481 7.2 11 Cytosol;Nucleus Mental retardation, autosomal recessive 55 0 PE1 NX_Q9BZE3 35074 327 9.05 9 Nucleus NA 0 PE2 NX_Q9BZE4 73964 634 9.52 10 Nucleolus;Nucleus membrane NA 0 PE1 NX_Q9BZE7 24956 217 9.83 22 Nucleus NA 0 PE1 NX_Q9BZE9 60183 553 6.23 17 Nucleoplasm;Cytoplasm;Cell membrane;Endomembrane system;Cytoplasmic vesicle;Nucleus;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 0 PE1 NX_Q9BZF1 101196 889 6.52 12 Cytoplasmic vesicle;Cytosol;Endoplasmic reticulum membrane;Nucleus membrane;Cell membrane NA 1 PE1 NX_Q9BZF2 95432 842 8.31 17 Cytosol;Endoplasmic reticulum membrane;Cell membrane;Nucleoplasm NA 0 PE1 NX_Q9BZF3 106306 934 6.48 2 Cytosol;Endoplasmic reticulum membrane;Nucleus envelope;Cell membrane NA 0 PE1 NX_Q9BZF9 162505 1416 6.6 15 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9BZG1 29044 259 8.07 17 Phagosome membrane;Cytoplasm;Phagosome;Golgi apparatus;Cilium NA 0 PE1 NX_Q9BZG2 46090 426 8.45 19 Membrane Amelogenesis imperfecta 1J 1 PE1 NX_Q9BZG8 48805 443 8.47 17 Nucleoplasm;Cytoplasm;Nucleus;Cell junction Developmental delay with short stature, dysmorphic features, and sparse hair 0 PE1 NX_Q9BZH6 136685 1224 6.48 10 trans-Golgi network;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Cilium axoneme;Cytoskeleton;Cilium basal body Hypogonadotropic hypogonadism 14 with or without anosmia 0 PE1 NX_Q9BZI1 49129 471 5.14 5 Nucleolus;Nucleus NA 0 PE1 NX_Q9BZI7 57762 483 9.48 X Cytosol;Cytoplasm;Nucleolus;Nucleus Mental retardation, X-linked, syndromic, 14 0 PE1 NX_Q9BZJ0 100452 848 8.1 20 Nucleus speckle;Nucleus NA 0 PE1 NX_Q9BZJ3 26584 242 5.51 16 Nucleus speckle;Secreted NA 0 PE1 NX_Q9BZJ4 39249 359 9.68 17 Mitochondrion;Mitochondrion inner membrane NA 6 PE1 NX_Q9BZJ6 47578 419 9.6 6 Cytosol;Nucleus;Cell membrane NA 7 PE2 NX_Q9BZJ7 37614 368 10.86 3 Endosome membrane;Cell membrane NA 7 PE1 NX_Q9BZJ8 49292 451 6.19 1 Endosome membrane;Cell membrane NA 7 PE1 NX_Q9BZK3 23306 213 4.53 8 NA NA 0 PE5 NX_Q9BZK7 55595 514 5.28 3 Nucleoplasm;Nucleus Mental retardation, autosomal dominant 41;Pierpont syndrome 0 PE1 NX_Q9BZK8 8369 76 8.97 1 NA NA 0 PE4 NX_Q9BZL1 8547 73 8.58 19 Cytoplasm NA 0 PE1 NX_Q9BZL3 6593 60 6.69 5 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q9BZL4 84881 782 5.44 19 Cytoplasm;Stress fiber NA 0 PE1 NX_Q9BZL6 96722 878 6.39 19 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;trans-Golgi network NA 0 PE1 NX_Q9BZM1 21067 189 6.95 4 Cytoplasm;Secreted NA 0 PE1 NX_Q9BZM2 18658 168 5.09 1 Cell membrane;Secreted NA 0 PE1 NX_Q9BZM3 32031 304 9.22 4 Nucleus NA 0 PE2 NX_Q9BZM4 27949 244 8.2 6 Cytoplasmic vesicle;Cell membrane;Microtubule organizing center NA 0 PE1 NX_Q9BZM5 27368 246 6.93 6 Cytoplasmic vesicle;Endoplasmic reticulum;Cell membrane;Secreted NA 0 PE1 NX_Q9BZM6 27997 244 7.07 6 Cytosol;Cytoskeleton;Cell membrane;Endoplasmic reticulum NA 0 PE1 NX_Q9BZP3 9646 86 4.99 18 NA NA 0 PE5 NX_Q9BZP6 52271 476 5.54 1 Cytoplasm;Secreted NA 0 PE1 NX_Q9BZQ2 72632 653 5.2 1 Spindle NA 0 PE1 NX_Q9BZQ4 34439 307 6.59 1 Axon;Cytoplasm;Cytoplasmic vesicle membrane;Golgi apparatus membrane NA 0 PE1 NX_Q9BZQ6 104664 932 4.82 1 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 NX_Q9BZQ8 103135 928 4.74 1 Cytosol;Cytoplasm;Cell membrane;Membrane NA 0 PE1 NX_Q9BZR6 50708 473 9.22 22 Perikaryon;Cell membrane;Axon;Dendrite;Focal adhesion;Endoplasmic reticulum;Cytoskeleton;Membrane raft Schizophrenia 0 PE1 NX_Q9BZR8 36598 327 6.17 12 Cytosol;Cytoplasm;Endomembrane system NA 0 PE1 NX_Q9BZR9 61489 551 7.26 10 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9BZS1 47244 431 9.52 X Nucleoplasm;Cytoplasm;Nucleus Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome 0 PE1 NX_Q9BZS9 5619 49 5.91 7 NA NA 0 PE5 NX_Q9BZV1 49754 441 6.46 19 Lysosome membrane;Golgi apparatus;Cytosol;Cytoplasm;Early endosome membrane;Late endosome membrane;Nucleus;Membrane;Centrosome NA 0 PE1 NX_Q9BZV2 55665 496 6.01 2 Nucleoplasm;Cytosol;Membrane Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type 12 PE1 NX_Q9BZV3 138621 1241 4.52 3 Membrane Retinitis pigmentosa 56;Macular dystrophy, vitelliform, 5 1 PE1 NX_Q9BZW2 66134 595 8.35 7 Membrane NA 13 PE1 NX_Q9BZW4 42554 377 7.95 19 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 9 PE1 NX_Q9BZW5 41636 370 7.55 15 Lysosome membrane NA 9 PE1 NX_Q9BZW7 81421 698 5.73 2 Centriole;Cytoplasm;Cytosol Spermatogenic failure 26 0 PE1 NX_Q9BZW8 41616 370 9.14 1 Cell membrane;Membrane NA 1 PE1 NX_Q9BZX2 29299 261 6.24 1 Nucleus NA 0 PE1 NX_Q9BZX4 23964 212 5.11 3 Flagellum NA 0 PE1 NX_Q9BZY9 48244 425 7.55 6 Mitochondrion;Cytoplasm NA 0 PE1 NX_Q9BZZ2 182624 1709 6.15 20 Cell membrane;Secreted NA 1 PE1 NX_Q9BZZ5 59005 524 6.99 11 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q9C000 165866 1473 6.39 17 Nucleoplasm;Cytosol;Inflammasome;Nucleus;Cytoplasm Autoinflammation with arthritis and dyskeratosis;Vitiligo-associated multiple autoimmune disease 1;Palmoplantar carcinoma, multiple self-healing 0 PE1 NX_Q9C002 9617 83 9.45 15 Nucleus NA 0 PE1 NX_Q9C004 32541 299 8.25 5 Cytoplasm;Ruffle membrane Hypogonadotropic hypogonadism 17 with or without anosmia 0 PE1 NX_Q9C005 11250 99 4.84 2 Nucleoplasm;Nucleus;Golgi apparatus;trans-Golgi network NA 0 PE1 NX_Q9C009 41526 403 9.52 6 Nucleus NA 0 PE1 NX_Q9C010 8468 78 4.76 6 NA NA 0 PE1 NX_Q9C019 52113 465 5.4 6 NA NA 0 PE1 NX_Q9C026 79177 710 6.4 14 Synapse;Cytosol;Cytoplasm;Dendrite;Cytoskeleton;Synaptic vesicle NA 0 PE1 NX_Q9C029 56631 511 7.81 5 Cytoplasmic vesicle;Nucleoplasm;Cytosol NA 0 PE1 NX_Q9C030 56400 488 7.5 11 Cytoplasm NA 0 PE1 NX_Q9C035 56338 493 5.73 11 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9C037 57461 500 8.4 7 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9C040 81530 744 6.51 4 Cytoplasm;Centrosome Charcot-Marie-Tooth disease 2R 0 PE1 NX_Q9C056 29263 277 9.71 10 Nucleus Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 0 PE1 NX_Q9C073 48319 453 8.67 17 Nucleoplasm NA 0 PE1 NX_Q9C075 48131 422 6.09 17 Cytosol;Cytoskeleton NA 0 PE1 NX_Q9C086 38637 356 9.66 2 Nucleolus;Nucleus NA 0 PE1 NX_Q9C091 214354 1923 6.18 18 Mitochondrion;Nucleolus;Membrane Renal hypodysplasia/aplasia 3 1 PE1 NX_Q9C093 209811 1822 5.4 5 Cytoplasm;Golgi apparatus NA 0 PE1 NX_Q9C098 73814 648 9 3 Cytoplasm;Nucleus NA 0 PE2 NX_Q9C099 119596 1032 5.62 8 Centriole NA 0 PE1 NX_Q9C0A0 145274 1308 6.22 16 Presynaptic cell membrane NA 1 PE1 NX_Q9C0A1 274176 2572 5.59 14 Nucleolus;Nucleus Marsili syndrome 0 PE1 NX_Q9C0A6 157515 1442 8.74 3 Cytosol;Nucleus Mental retardation, autosomal dominant 23 0 PE1 NX_Q9C0B0 88084 810 6.4 17 Cytosol;Cytoplasm NA 0 PE1 NX_Q9C0B1 58282 505 5.1 16 Cytosol;Nucleus speckle;Cytoplasmic vesicle;Nucleus;Cytoplasm Obesity;Growth retardation, developmental delay, and facial dysmorphism 0 PE1 NX_Q9C0B2 178589 1584 6.01 1 Cilium axoneme NA 0 PE1 NX_Q9C0B5 77545 715 9.17 11 Cytosol;Nucleoplasm;Cell junction;Cell membrane NA 4 PE1 NX_Q9C0B6 89005 783 8.18 1 Cytoplasmic vesicle;Nucleolus;Secreted NA 0 PE1 NX_Q9C0B7 120748 1094 5.75 16 Cytosol;Golgi apparatus;Membrane NA 1 PE1 NX_Q9C0B9 125936 1178 6.55 18 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q9C0C2 181796 1729 4.77 11 Cytoskeleton;Nucleus;Chromosome NA 0 PE1 NX_Q9C0C4 92623 833 6.92 2 Postsynaptic density;Synaptic vesicle membrane NA 1 PE1 NX_Q9C0C6 42692 399 9.08 14 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q9C0C7 142507 1298 6.73 11 Mitochondrion;Cytoplasmic vesicle;Autophagosome NA 0 PE1 NX_Q9C0C9 141293 1292 5.01 17 Cytoplasm;Nucleus NA 0 PE1 NX_Q9C0D0 66308 580 6.51 6 Cytoplasm;Synapse;Nucleus;Cell membrane NA 0 PE1 NX_Q9C0D2 295176 2601 5.68 11 Cytosol;Cell membrane;Centrosome;Centriole;Cytoskeleton;Spindle NA 0 PE1 NX_Q9C0D3 83921 744 6.38 1 Cytoskeleton;Golgi apparatus NA 0 PE1 NX_Q9C0D4 119531 1074 9.52 4 Nucleus NA 0 PE1 NX_Q9C0D5 202219 1861 8.63 2 Postsynaptic density NA 0 PE1 NX_Q9C0D6 124762 1143 9.17 4 Cilium;Golgi apparatus NA 0 PE1 NX_Q9C0D7 99340 883 6.48 11 Golgi apparatus;Nucleus membrane NA 0 PE1 NX_Q9C0D9 45229 397 6.12 2 Membrane NA 10 PE1 NX_Q9C0E2 130139 1151 4.95 13 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q9C0E4 112573 1043 6.02 3 Cytosol;Cytoplasm;Membrane NA 0 PE1 NX_Q9C0E8 47740 428 5.07 2 Endoplasmic reticulum membrane;Nucleoplasm;Endoplasmic reticulum NA 2 PE1 NX_Q9C0F0 241919 2248 5.8 18 Nucleus Bainbridge-Ropers syndrome 0 PE1 NX_Q9C0F1 44140 390 5.13 4 Midbody;Centrosome;Spindle pole NA 0 PE1 NX_Q9C0F3 54277 470 6.75 1 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q9C0G0 247367 2248 6.05 18 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9C0G6 475983 4158 5.72 2 Cilium axoneme NA 0 PE1 NX_Q9C0H2 57545 523 5.19 7 Cell membrane NA 5 PE1 NX_Q9C0H5 121286 1083 7.3 8 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9C0H6 80245 718 6.39 X Cytoskeleton;Microtubule organizing center NA 0 PE1 NX_Q9C0H9 127105 1183 9.39 17 Synapse;Cytoplasm;Axon;Dendrite;Postsynaptic density;Cytoskeleton;Cell junction NA 0 PE1 NX_Q9C0I1 86148 747 6.17 5 Sarcomere;Cytoplasm;Sarcoplasmic reticulum NA 0 PE1 NX_Q9C0I3 99510 900 7.88 4 NA NA 0 PE1 NX_Q9C0I4 179402 1608 7.93 2 Nucleoplasm;Cytosol;Membrane NA 1 PE1 NX_Q9C0I9 60089 530 9.62 10 Nucleus;Golgi apparatus NA 0 PE2 NX_Q9C0J1 42310 378 9.44 12 Mitochondrion;Nucleolus;Golgi apparatus membrane NA 1 PE1 NX_Q9C0J8 145891 1336 9.24 2 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9C0J9 50498 482 6.95 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9C0K0 95519 894 6.1 14 Nucleolus;Nucleus Immunodeficiency 49 0 PE1 NX_Q9C0K1 49631 460 5.71 4 Membrane Congenital disorder of glycosylation 2N 8 PE1 NX_Q9C0K3 23712 210 5.36 7 NA NA 0 PE2 NX_Q9C0K7 47026 418 6.52 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9GIP4 19840 190 6.72 16 Membrane NA 3 PE5 NX_Q9GIY3 30139 266 8.22 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 NX_Q9GZK3 40412 357 8.61 6 Cell membrane NA 7 PE2 NX_Q9GZK4 35339 316 9.02 6 Cell membrane NA 7 PE2 NX_Q9GZK6 35454 312 8.31 6 Cell membrane NA 7 PE3 NX_Q9GZK7 35250 315 8.05 6 Cell membrane NA 7 PE2 NX_Q9GZL7 47708 423 5.57 2 Nucleoplasm;Cytosol;Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_Q9GZL8 12676 116 4.52 3 NA NA 0 PE2 NX_Q9GZM3 13088 115 6.28 7 Nucleus NA 0 PE1 NX_Q9GZM5 38248 350 5.47 6 Golgi apparatus;Nucleoplasm;Cytoplasm;Cell membrane;cis-Golgi network membrane;Endoplasmic reticulum NA 5 PE1 NX_Q9GZM6 34857 311 8.37 11 Cell membrane NA 7 PE2 NX_Q9GZM7 52387 467 6.54 1 Secreted NA 0 PE1 NX_Q9GZM8 38375 345 5.16 17 Kinetochore;Spindle;Cytoskeleton;Centrosome NA 0 PE1 NX_Q9GZN0 40246 384 9.8 1 Cytoplasm;Nucleus;Cell membrane Chorea, childhood-onset, with psychomotor retardation 7 PE2 NX_Q9GZN1 45810 396 4.92 12 Cytosol;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 NX_Q9GZN2 25878 237 7.77 20 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9GZN4 33732 317 7.55 16 Nucleoplasm;Secreted NA 0 PE1 NX_Q9GZN6 82200 736 8.59 19 Golgi apparatus;Membrane NA 12 PE1 NX_Q9GZN7 32254 287 8.3 16 Perikaryon;Cytoplasm;Nucleus envelope;Axon;Dendrite;Nucleus;Presynaptic cell membrane;Synaptic vesicle Kohlschuetter-Toenz syndrome 0 PE1 NX_Q9GZN8 19291 174 6.34 20 Nucleoplasm;Cytosol NA 0 PE1 NX_Q9GZP0 42848 370 8.28 11 Cytoplasmic vesicle;Golgi apparatus;Secreted NA 0 PE1 NX_Q9GZP1 21983 204 4.69 20 Golgi apparatus;Nucleoplasm;Cell membrane;Cytoplasmic vesicle;Cytosol;Membrane NA 2 PE1 NX_Q9GZP4 24178 211 5.47 1 NA NA 0 PE1 NX_Q9GZP7 40021 353 9.46 19 Cytoplasmic vesicle;Nucleus;Cell membrane NA 7 PE2 NX_Q9GZP8 10897 106 9.73 19 Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q9GZP9 27567 239 6.73 17 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 4 PE1 NX_Q9GZQ3 24670 224 6.52 8 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q9GZQ4 47696 415 8.96 5 Cell membrane NA 7 PE1 NX_Q9GZQ6 47819 430 9.54 10 Cell membrane NA 7 PE2 NX_Q9GZQ8 14688 125 8.89 16 Autophagosome membrane;Cytoplasm;Endomembrane system;Nucleus;Autophagosome;Cytoskeleton NA 0 PE1 NX_Q9GZR1 126146 1112 6.3 6 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q9GZR2 46672 422 9.79 9 Nucleolus;Nucleus NA 0 PE1 NX_Q9GZR5 36829 314 9.49 6 Endoplasmic reticulum membrane Spinocerebellar ataxia 34;Stargardt disease 3;Ichthyosis, spastic quadriplegia, and mental retardation 7 PE1 NX_Q9GZR7 96332 859 9.14 14 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q9GZS0 68821 605 4.68 17 Cilium axoneme Ciliary dyskinesia, primary, 9 0 PE1 NX_Q9GZS1 47260 419 9.1 9 Nucleolus;Nucleus NA 0 PE1 NX_Q9GZS3 33581 305 5.16 15 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q9GZS9 46161 411 10.07 16 Golgi apparatus membrane NA 1 PE1 NX_Q9GZT3 12349 109 10.26 14 Mitochondrion;Nucleus NA 0 PE1 NX_Q9GZT4 36566 340 6.11 17 Cytoplasmic vesicle NA 0 PE1 NX_Q9GZT5 46444 417 9.38 2 Extracellular matrix;Secreted Tooth agenesis, selective, 4;Odonto-onycho-dermal dysplasia;Schopf-Schulz-Passarge syndrome 0 PE1 NX_Q9GZT6 29506 254 6.99 11 Mitochondrion;Mitochondrion membrane NA 1 PE1 NX_Q9GZT8 41968 377 6.19 2 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_Q9GZT9 46021 426 8.83 1 Cytosol;Cytoplasm;Nucleus Erythrocytosis, familial, 3 0 PE1 NX_Q9GZU0 27083 229 9.05 6 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9GZU1 65022 580 6.9 19 Phagocytic cup;Cytosol;Cell membrane;Lysosome membrane;Late endosome membrane;Phagosome membrane;Cytoplasmic vesicle membrane Mucolipidosis 4 6 PE1 NX_Q9GZU2 180827 1588 5.31 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9GZU3 56274 492 9.51 1 Cytoplasmic vesicle;Membrane NA 8 PE1 NX_Q9GZU5 52000 481 9.1 X Extracellular matrix Night blindness, congenital stationary, 1A 0 PE1 NX_Q9GZU7 29203 261 5.62 2 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9GZU8 28912 254 5.38 16 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9GZV1 39859 360 5.72 10 Cytoplasmic vesicle;I band;Nucleus;Cytosol;PML body NA 0 PE1 NX_Q9GZV3 63204 580 5 2 Synapse;Cell membrane;Nucleus;Membrane;Cytoskeleton;Cell junction Neuronopathy, distal hereditary motor, 7A;Myasthenic syndrome, congenital, 20, presynaptic 13 PE1 NX_Q9GZV4 16793 153 5.38 3 Endoplasmic reticulum membrane;Cytoplasm;Nuclear pore complex;Nucleus;Cytoplasmic vesicle NA 0 PE1 NX_Q9GZV5 44101 400 5.49 3 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q9GZV7 37775 340 9.12 1 Extracellular matrix NA 0 PE1 NX_Q9GZV8 64062 571 6.65 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9GZV9 27954 251 9.17 12 Secreted Hypophosphatemic rickets, autosomal dominant;Tumoral calcinosis, hyperphosphatemic, familial, 2 0 PE1 NX_Q9GZW5 34217 306 10.67 15 Nucleus NA 0 PE5 NX_Q9GZW8 26131 240 6.17 11 Membrane NA 4 PE2 NX_Q9GZX3 44099 395 10.03 16 Golgi apparatus membrane Macular dystrophy, corneal 1 PE1 NX_Q9GZX5 60011 532 8.92 19 Nucleoplasm;Nucleus;Nucleus matrix NA 0 PE1 NX_Q9GZX6 20011 179 7.65 12 Secreted NA 0 PE1 NX_Q9GZX7 23954 198 9.5 12 Cytoplasm;Nucleus Immunodeficiency with hyper-IgM 2 0 PE1 NX_Q9GZX9 25017 223 5.17 18 Cytosol;Centrosome;Secreted NA 0 PE1 NX_Q9GZY0 71627 626 7.74 X Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q9GZY1 15722 135 9.77 6 Cytoplasm;Nucleus NA 0 PE2 NX_Q9GZY4 16694 146 8.76 7 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 NX_Q9GZY6 26550 243 4.69 7 Cell membrane NA 1 PE1 NX_Q9GZY8 38465 342 9.01 2 Mitochondrion;Peroxisome;Synaptic vesicle;Mitochondrion outer membrane Encephalopathy due to defective mitochondrial and peroxisomal fission 2 1 PE1 NX_Q9GZZ0 34093 328 9.15 2 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9GZZ1 19398 169 8.96 3 Cytoplasm;Nucleus NA 0 PE1 NX_Q9GZZ6 49705 450 8.2 11 Postsynaptic cell membrane;Cell membrane NA 4 PE1 NX_Q9GZZ7 31670 299 10.47 20 Cell membrane;Secreted NA 0 PE1 NX_Q9GZZ8 14246 138 5.44 12 Secreted NA 0 PE1 NX_Q9GZZ9 44863 404 4.79 3 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Golgi apparatus Spinocerebellar ataxia, autosomal recessive, 24;Epileptic encephalopathy, early infantile, 44 0 PE1 NX_Q9H000 46940 416 7.73 3 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 NX_Q9H008 29165 270 5.8 10 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q9H009 23223 215 4.68 17 Cytoplasm;Nucleus NA 0 PE1 NX_Q9H013 104997 955 8.75 5 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q9H015 62155 551 6.85 5 Mitochondrion;Membrane Rheumatoid arthritis 12 PE1 NX_Q9H019 31957 292 5.77 1 Mitochondrion;Cytoplasm;Cell junction NA 0 PE1 NX_Q9H040 55134 489 8.38 1 Nucleoplasm;Nucleus;Chromosome Ruijs-Aalfs syndrome 0 PE1 NX_Q9H061 21527 195 9.36 11 Mitochondrion;Nucleus;Mitochondrion inner membrane;Cytosol Optic atrophy 7 with or without auditory neuropathy 4 PE1 NX_Q9H063 28771 256 4.47 8 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9H069 61054 523 4.68 17 Cytoplasm;Flagellum axoneme;Cilium;Cilium axoneme NA 0 PE1 NX_Q9H074 53525 479 4.71 5 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9H078 78729 707 9.13 11 Mitochondrion 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 0 PE1 NX_Q9H079 34767 304 9.18 15 Spindle;Nucleus;Spindle pole;Midbody NA 0 PE1 NX_Q9H081 24140 205 5.5 17 Kinetochore;Nucleus NA 0 PE1 NX_Q9H082 25718 229 6.7 4 Golgi apparatus membrane;cis-Golgi network;Golgi apparatus Smith-McCort dysplasia 2 0 PE1 NX_Q9H089 75225 658 5.96 3 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum;Cajal body NA 0 PE1 NX_Q9H091 81860 742 6.38 17 Cytosol;Nucleus speckle;Nucleus;Cytoplasm Spermatogenic failure 14 0 PE1 NX_Q9H093 69612 628 9.01 1 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q9H094 72951 633 4.4 1 Cytoplasm NA 0 PE2 NX_Q9H095 51918 443 6.18 3 Flagellum axoneme;Flagellum;Cytosol;Cytoplasm;Cytoskeleton;Cilium NA 0 PE1 NX_Q9H098 15558 131 7.89 10 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9H0A0 115730 1025 8.5 11 Nucleolus;Midbody NA 0 PE1 NX_Q9H0A3 17963 160 8.95 22 Membrane NA 1 PE2 NX_Q9H0A6 41516 362 9.15 7 Cytoplasm;Cell membrane NA 0 PE1 NX_Q9H0A8 21764 199 6.89 15 Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9H0A9 37613 340 7.05 21 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Cell membrane NA 0 PE1 NX_Q9H0B3 127693 1180 10.25 19 Mitochondrion NA 0 PE1 NX_Q9H0B6 68935 622 6.72 11 Nucleoplasm;Cytoplasm;Cytoskeleton;Cytosol;Cell membrane Spastic paraplegia, optic atrophy, and neuropathy 0 PE1 NX_Q9H0B8 55920 497 8.36 16 Nucleolus;Nucleus;Golgi apparatus;Secreted NA 0 PE1 NX_Q9H0C1 41818 365 5.82 1 Cytoplasm;Nucleus NA 0 PE1 NX_Q9H0C2 35022 315 9.91 4 Mitochondrion;Flagellum;Mitochondrion inner membrane NA 6 PE1 NX_Q9H0C3 60185 514 8.67 12 Cytoskeleton;Nucleolus;Nucleus;Cell membrane;Endoplasmic reticulum NA 8 PE1 NX_Q9H0C5 52771 482 5.79 15 Cytoplasm NA 0 PE1 NX_Q9H0C8 42907 392 6.68 2 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q9H0D2 145587 1346 8.28 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9H0D6 108582 950 7.26 20 Nucleolus;Nucleus NA 0 PE1 NX_Q9H0E2 30282 274 5.68 11 Cytosol;Cytoplasm;Endosome;Cell membrane NA 0 PE1 NX_Q9H0E3 110324 1048 9.83 2 Nucleus speckle;Nucleus NA 0 PE1 NX_Q9H0E7 81185 712 8.21 12 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_Q9H0E9 135336 1235 4.52 5 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q9H0F5 57595 515 7.68 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9H0F6 39949 387 5.53 8 Cytosol;Synapse;Nucleus NA 0 PE1 NX_Q9H0F7 21097 186 8.72 3 Cytoplasmic vesicle;Cilium membrane;Nucleoplasm;Cilium axoneme;Cilium basal body Retinitis pigmentosa 55;Bardet-Biedl syndrome 3 0 PE1 NX_Q9H0G5 66390 558 8.9 17 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_Q9H0H0 134323 1204 5.72 17 Cytoplasm;Nucleus;Nucleus membrane NA 1 PE1 NX_Q9H0H3 65923 589 6.1 15 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 NX_Q9H0H5 71027 632 9.08 12 Acrosome;Cleavage furrow;Nucleoplasm;Cytoplasm;Midbody ring;Nucleus envelope;Cell membrane;Nucleus;Spindle NA 0 PE1 NX_Q9H0H9 12413 118 9.49 2 NA NA 0 PE5 NX_Q9H0I2 38759 346 9.84 16 Cytosol;Cytoskeleton;Centrosome;Cell membrane NA 0 PE1 NX_Q9H0I3 44220 377 8.75 16 Cytosol;Cytoplasm;Centriolar satellite;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9H0I9 67877 626 5.9 4 Cytoplasm NA 0 PE1 NX_Q9H0J4 180827 1663 6.25 17 Cytoplasmic vesicle;Nucleoplasm;Nucleus membrane NA 0 PE1 NX_Q9H0J9 79064 701 8.84 7 Nucleus NA 0 PE1 NX_Q9H0K1 103915 926 5.7 11 Cytoplasm;Golgi apparatus NA 0 PE1 NX_Q9H0K4 80913 717 4.36 19 Cytoplasm;Nucleus NA 0 PE1 NX_Q9H0K6 80700 701 7.31 12 Nucleus speckle;Nucleus NA 0 PE1 NX_Q9H0L4 64437 616 6.79 10 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9H0M0 105202 922 5.64 8 Cytosol;Cytoplasm;Nucleus;Golgi apparatus;Cell membrane NA 0 PE1 NX_Q9H0M4 72007 648 7.47 7 Golgi apparatus NA 0 PE1 NX_Q9H0M5 86232 742 9.15 19 Nucleus NA 0 PE1 NX_Q9H0N0 28355 254 7.58 2 Cytoplasm;Nucleus;Centrosome;Golgi apparatus NA 0 PE1 NX_Q9H0N5 14365 130 9.17 5 Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9H0P0 37948 336 6.67 7 Mitochondrion;Cytoplasm;Nucleus;Endoplasmic reticulum P5N deficiency 0 PE1 NX_Q9H0P7 20949 198 6.01 6 Cytoplasm NA 0 PE5 NX_Q9H0Q0 37313 323 5.71 2 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9H0Q3 10542 95 5.05 11 Cytoplasmic vesicle;Membrane;Golgi apparatus;Cell membrane;Nucleus membrane NA 1 PE1 NX_Q9H0R1 54767 490 6.17 14 Cytosol;Lysosome membrane;Late endosome membrane NA 0 PE1 NX_Q9H0R3 23230 208 6.04 1 Cytosol;Cell membrane;Membrane NA 3 PE1 NX_Q9H0R4 28536 259 5.84 18 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_Q9H0R5 68114 595 6.11 1 Cytoplasm;Perinuclear region;Golgi apparatus membrane NA 0 PE1 NX_Q9H0R6 57460 528 5.47 6 Mitochondrion;Cytoplasmic vesicle;Centrosome NA 0 PE1 NX_Q9H0R8 14044 117 8.67 12 Golgi apparatus;Cytoplasm;Endoplasmic reticulum;Nucleus;Autophagosome;Cytoskeleton;Cytoplasmic vesicle membrane NA 0 PE1 NX_Q9H0S4 50647 455 9.18 12 Nucleolus;Nucleus NA 0 PE1 NX_Q9H0T7 23491 212 7.7 2 Cytoplasm;Recycling endosome membrane;Nucleus;Melanosome;Dendrite NA 0 PE1 NX_Q9H0U3 38037 335 9.68 X Endoplasmic reticulum membrane;Cell membrane;Endoplasmic reticulum Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 4 PE1 NX_Q9H0U4 22171 201 5.55 11 Cytoplasm;Preautophagosomal structure membrane;Endoplasmic reticulum;Golgi apparatus;Membrane NA 0 PE1 NX_Q9H0U6 20577 180 9.63 6 Mitochondrion NA 0 PE1 NX_Q9H0U9 49192 437 5.36 6 Nucleolus;Nucleus Sudden infant death with dysgenesis of the testes syndrome 0 PE1 NX_Q9H0V1 79755 697 8.34 7 Golgi apparatus;Membrane NA 11 PE1 NX_Q9H0V9 39711 348 8.55 2 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum Mental retardation, autosomal recessive 52 1 PE1 NX_Q9H0W5 59374 538 8.72 19 Cytosol;Cytoplasm;Nucleus;Centrosome;Cell membrane 3M syndrome 3 0 PE1 NX_Q9H0W7 26260 228 10.17 12 Nucleoplasm;Golgi apparatus;Cell membrane NA 0 PE1 NX_Q9H0W8 57651 520 6.52 19 Mitochondrion;Cytosol;Nucleus;Cytoplasm Heart and brain malformation syndrome 0 PE1 NX_Q9H0W9 35117 315 6.23 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9H0X4 59660 552 5.84 16 Nucleoplasm;Mitochondrion;Cell membrane;Membrane NA 1 PE1 NX_Q9H0X6 27964 261 7.45 9 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q9H0X9 98616 879 7.29 11 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Endoplasmic reticulum NA 1 PE1 NX_Q9H0Y0 25279 220 5.35 5 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9H0Z9 25498 239 8.76 20 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9H106 21687 197 9.56 20 Secreted NA 0 PE1 NX_Q9H112 16506 138 6.51 20 Secreted NA 0 PE1 NX_Q9H114 16989 145 9.84 20 Secreted NA 0 PE2 NX_Q9H115 33557 298 5.32 20 Membrane NA 0 PE1 NX_Q9H116 80492 711 8.11 20 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Joint laxity, short stature, and myopia 0 PE1 NX_Q9H147 37013 329 9.11 20 Nucleus NA 0 PE1 NX_Q9H156 95404 845 7.95 X Cell membrane;Membrane NA 1 PE1 NX_Q9H158 103942 963 5.05 5 Cytoplasmic vesicle;Nucleolus;Nucleus;Cell membrane NA 1 PE2 NX_Q9H159 87002 772 4.62 18 Cell membrane NA 1 PE1 NX_Q9H160 32808 280 8.17 4 Nucleoplasm;Cytosol;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9H161 44241 411 8.56 11 Nucleoplasm;Nucleus Potocki-Shaffer syndrome;Parietal foramina 2;Frontonasal dysplasia 2;Craniosynostosis 5 0 PE1 NX_Q9H165 91197 835 6.15 2 Nucleoplasm;Cytoplasm;Nucleus Intellectual developmental disorder with persistence of fetal hemoglobin 0 PE1 NX_Q9H169 22071 189 5.76 8 Axon;Cytoplasmic vesicle;Growth cone;Golgi apparatus NA 0 PE1 NX_Q9H171 46343 429 6.29 20 NA NA 0 PE1 NX_Q9H172 71896 646 8.49 11 Membrane NA 6 PE1 NX_Q9H173 52085 461 5.27 5 Endoplasmic reticulum lumen Marinesco-Sjoegren syndrome 0 PE1 NX_Q9H175 59591 543 4.68 12 Nucleus speckle;Nucleus NA 0 PE1 NX_Q9H190 31594 292 9.15 20 Nucleus speckle;Nucleolus;Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 NX_Q9H195 131402 1237 5.28 7 Membrane NA 1 PE2 NX_Q9H1A3 36536 318 6.96 16 Cytosol;Nucleus;Cell junction NA 0 PE1 NX_Q9H1A4 216500 1944 5.88 2 Cytoplasmic vesicle NA 0 PE1 NX_Q9H1A7 13092 115 5.88 7 Nucleus NA 0 PE2 NX_Q9H1B4 45628 397 9.1 X Cytoplasm;Nucleus NA 0 PE2 NX_Q9H1B5 96767 865 8.5 17 Cytosol;Nucleus;Golgi apparatus membrane;Secreted Spondyloocular syndrome;Pseudoxanthoma elasticum 1 PE1 NX_Q9H1B7 82659 796 8.56 14 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9H1C0 41347 372 10.22 12 Cell membrane NA 7 PE2 NX_Q9H1C3 40026 349 6.57 12 Cytosol;Membrane NA 1 PE1 NX_Q9H1C4 66631 597 6.48 11 Endoplasmic reticulum membrane;Nucleoplasm;Endosome;Phagosome;Lysosome Encephalopathy, acute, infection-induced, Herpes-specific, 1 12 PE1 NX_Q9H1C7 10631 97 4.2 5 Membrane NA 1 PE1 NX_Q9H1D0 87286 765 7.86 7 Cell membrane NA 6 PE1 NX_Q9H1D9 35684 316 5.79 20 Nucleus NA 0 PE1 NX_Q9H1E1 17419 156 9.76 14 Secreted NA 0 PE1 NX_Q9H1E3 27296 243 5 1 Nucleolus;Nucleus NA 0 PE1 NX_Q9H1E5 38952 349 4.31 20 Nucleus membrane;Membrane NA 1 PE1 NX_Q9H1F0 8943 79 8.8 20 Secreted NA 0 PE2 NX_Q9H1H1 16872 148 6.3 20 Nucleolus NA 0 PE1 NX_Q9H1H9 202308 1805 5.43 6 Endosome membrane;Golgi apparatus membrane;Centrosome;Midbody NA 0 PE1 NX_Q9H1I8 86360 757 5.02 22 Cytosol;Nucleus speckle;Focal adhesion;Nucleus NA 0 PE1 NX_Q9H1J1 54696 476 9.12 13 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q9H1J5 38849 351 8.1 5 Cytosol;Secreted;Cell membrane;Extracellular matrix NA 0 PE1 NX_Q9H1J7 40323 359 8.8 12 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 NX_Q9H1K0 88870 784 5.36 3 Cytoplasmic vesicle;Early endosome membrane;Cell membrane NA 0 PE1 NX_Q9H1K1 17999 167 9.54 12 Mitochondrion;Cytoplasm;Nucleus;Cytosol Myopathy with exercise intolerance Swedish type 0 PE1 NX_Q9H1K4 33849 315 9.39 22 Mitochondrion inner membrane NA 6 PE1 NX_Q9H1K6 37758 362 8.54 15 Nucleoplasm;Cytosol NA 0 PE1 NX_Q9H1L0 12410 117 6.4 20 NA NA 0 PE4 NX_Q9H1M0 20837 184 4.41 X NA NA 0 PE1 NX_Q9H1M3 20299 183 9.04 20 Secreted NA 0 PE1 NX_Q9H1M4 11343 99 9.05 20 Secreted NA 0 PE1 NX_Q9H1N7 44593 401 9.34 6 Golgi apparatus membrane NA 10 PE1 NX_Q9H1P3 55201 480 5.94 20 Cytosol Deafness, autosomal dominant, 67 0 PE1 NX_Q9H1P6 15719 137 8.72 20 NA NA 0 PE1 NX_Q9H1Q7 51782 454 6.41 20 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9H1R2 31882 295 8.77 20 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9H1R3 64685 596 6.6 20 Cytoplasm;Endoplasmic reticulum Cardiomyopathy, familial hypertrophic 0 PE1 NX_Q9H1U4 62984 602 5.45 9 Cytosol;Nucleus;Membrane NA 1 PE1 NX_Q9H1U9 33672 297 9.51 9 Mitochondrion inner membrane NA 6 PE1 NX_Q9H1V8 81001 727 5.68 1 Synaptic vesicle membrane;Nucleus;Golgi apparatus Mental retardation, autosomal recessive 48 12 PE1 NX_Q9H1X1 31292 276 5.28 6 Cilium axoneme Ciliary dyskinesia, primary, 12 0 PE1 NX_Q9H1X3 42404 360 9.2 9 Nucleoplasm;Cytosol;Membrane NA 3 PE1 NX_Q9H1Y0 32447 275 5.48 6 Cytoplasm;Preautophagosomal structure membrane;Centrosome Spinocerebellar ataxia, autosomal recessive, 25 0 PE1 NX_Q9H1Y3 44873 402 9.3 1 Nucleoplasm;Membrane NA 7 PE1 NX_Q9H1Z4 53696 485 9.33 X Nucleoplasm;Nucleus;Cell membrane;Microtubule organizing center NA 0 PE1 NX_Q9H1Z8 17183 148 8.57 2 Secretory vesicle;Secreted NA 0 PE1 NX_Q9H1Z9 36498 355 5.57 17 Membrane NA 3 PE1 NX_Q9H201 68222 632 5.64 17 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Perinuclear region;Nucleus;Clathrin-coated vesicle NA 0 PE1 NX_Q9H204 19520 178 5.39 4 Nucleoplasm;Cytoplasm;Nucleus;Membrane NA 0 PE1 NX_Q9H205 35270 316 8.38 11 Cell membrane NA 7 PE1 NX_Q9H207 35519 317 9.06 11 Cell membrane NA 7 PE2 NX_Q9H208 33817 303 9.12 11 Cell membrane NA 7 PE2 NX_Q9H209 35117 315 7.56 11 Cell membrane NA 7 PE2 NX_Q9H210 34172 308 9.31 11 Cell membrane NA 7 PE2 NX_Q9H211 60390 546 9.82 16 Kinetochore;Nucleus Meier-Gorlin syndrome 4 0 PE1 NX_Q9H213 24441 219 9.05 X Nucleolus NA 0 PE1 NX_Q9H221 75679 673 8.52 2 Cytoplasmic vesicle;Apical cell membrane;Cell membrane Gallbladder disease 4;Sitosterolemia 6 PE1 NX_Q9H222 72504 651 9.15 2 Apical cell membrane;Nucleus;Cell membrane Sitosterolemia 6 PE1 NX_Q9H223 61175 541 6.33 15 Early endosome membrane;Recycling endosome membrane;Cell membrane NA 0 PE1 NX_Q9H227 53696 469 5.39 4 Cytosol NA 0 PE1 NX_Q9H228 41775 398 9.86 19 Cell membrane NA 7 PE1 NX_Q9H237 52318 461 9.08 X Cytoplasmic vesicle;Endoplasmic reticulum membrane Focal dermal hypoplasia 8 PE1 NX_Q9H239 58939 520 9.7 17 Extracellular matrix NA 0 PE1 NX_Q9H244 39439 342 9.6 3 Cell membrane Bleeding disorder, platelet-type 8 7 PE1 NX_Q9H246 13865 121 5.17 1 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9H251 369494 3354 4.5 10 Cell membrane Pituitary adenoma 5, multiple types;Usher syndrome 1D;Usher syndrome 1D/F;Deafness, autosomal recessive, 12 1 PE1 NX_Q9H252 109925 994 6.55 17 Membrane NA 6 PE1 NX_Q9H254 288985 2564 5.72 19 Nucleus;Cytoskeleton;Nucleolus;Cell cortex Myopathy, congenital, with neuropathy and deafness 0 PE1 NX_Q9H255 35493 320 9.16 11 Cell membrane NA 7 PE2 NX_Q9H257 62241 536 5.79 9 Cytoplasm Candidiasis, familial, 2 0 PE1 NX_Q9H267 70585 617 6.29 15 Lysosome membrane;Late endosome membrane;Clathrin-coated vesicle;Recycling endosome;Early endosome Arthrogryposis, renal dysfunction and cholestasis syndrome 1 0 PE1 NX_Q9H269 94694 839 6.32 20 Lysosome membrane;Late endosome membrane;Clathrin-coated vesicle;Autophagosome;Early endosome NA 0 PE1 NX_Q9H270 107837 941 6.6 11 Endosome;Lysosome membrane;Cytosol;Cytoplasmic vesicle;Late endosome membrane;Autophagosome;Early endosome;Clathrin-coated vesicle Leukodystrophy, hypomyelinating, 12 0 PE1 NX_Q9H293 20330 177 8.73 14 Secreted NA 0 PE1 NX_Q9H295 53393 470 9.41 8 Endoplasmic reticulum membrane;Endosome;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cell membrane NA 6 PE1 NX_Q9H299 10438 93 4.82 1 Cytoplasm;Nucleus NA 0 PE1 NX_Q9H2A2 53401 487 6.76 6 Cytoplasm;Centrosome NA 0 PE1 NX_Q9H2A3 28621 272 7.65 4 Nucleus NA 0 PE2 NX_Q9H2A7 27579 254 9.06 17 Cytoplasmic vesicle;Cell membrane;Golgi apparatus;Secreted NA 1 PE1 NX_Q9H2A9 48834 424 10.18 19 Golgi apparatus membrane Peeling skin syndrome 3 1 PE1 NX_Q9H2B2 47958 425 8.72 18 Cytoplasmic vesicle;Synaptic vesicle membrane;Cell membrane NA 1 PE1 NX_Q9H2B4 75016 701 8.47 4 Cytoskeleton;Basolateral cell membrane;Cell membrane Nephrolithiasis, calcium oxalate 9 PE1 NX_Q9H2C0 67638 597 5.58 16 Cytoplasm;Cytoskeleton Giant axonal neuropathy 1, autosomal recessive 0 PE1 NX_Q9H2C1 44406 402 7.87 12 Nucleus NA 0 PE1 NX_Q9H2C2 31052 271 8.59 1 Endoplasmic reticulum membrane;Cytoplasmic vesicle Epileptic encephalopathy, early infantile, 38 3 PE1 NX_Q9H2C5 35955 316 9.02 11 Cell membrane NA 7 PE3 NX_Q9H2C8 36749 321 8.95 11 Cell membrane NA 7 PE3 NX_Q9H2D1 35407 315 9.49 8 Mitochondrion;Mitochondrion inner membrane Exercise intolerance, riboflavin-responsive 6 PE1 NX_Q9H2D6 261376 2365 8.86 22 Cytoskeleton;Nucleus;Midbody;Centrosome Deafness, autosomal recessive, 28 0 PE1 NX_Q9H2E6 114395 1030 8.68 5 Cytoskeleton;Nucleus;Cell membrane NA 1 PE1 NX_Q9H2F3 41016 369 8.48 16 Endoplasmic reticulum membrane;Lipid droplet Congenital bile acid synthesis defect 1 2 PE1 NX_Q9H2F5 93463 836 8.77 10 Nucleus NA 0 PE1 NX_Q9H2F9 38869 335 8.78 18 Centriole;Cytosol;Golgi apparatus NA 0 PE1 NX_Q9H2G2 142695 1235 5.08 10 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9H2G4 79435 693 4.45 X Cytoplasm;Nucleus NA 0 PE1 NX_Q9H2G9 44910 400 8.74 1 Cytoplasm;Nucleus;Golgi apparatus;Golgi apparatus membrane NA 0 PE1 NX_Q9H2H0 20978 198 9.39 4 Cytoplasm NA 0 PE1 NX_Q9H2H8 18155 161 6.29 2 Nucleus NA 0 PE1 NX_Q9H2H9 54048 487 6.6 12 Cell membrane NA 11 PE1 NX_Q9H2I8 22568 198 6.23 10 Cytosol;Nucleus Albinism, oculocutaneous, 7 0 PE1 NX_Q9H2J1 18048 176 7.75 9 NA NA 0 PE2 NX_Q9H2J4 27614 239 4.78 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9H2J7 81836 730 5.06 12 Cytoplasmic vesicle;Nucleolus;Membrane NA 12 PE1 NX_Q9H2K0 31725 278 9.7 13 Mitochondrion;Nucleoplasm NA 0 PE1 NX_Q9H2K2 126918 1166 6.76 10 Cytoplasm;Cytoskeleton;Nucleus;Golgi apparatus membrane;Telomere NA 0 PE1 NX_Q9H2K8 105406 898 6.83 12 Mitochondrion;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9H2L4 15500 133 9.62 7 Membrane NA 4 PE2 NX_Q9H2L5 36748 321 7.66 10 Nucleolus;Nucleus;Cell junction NA 0 PE1 NX_Q9H2M3 40354 363 5.61 5 NA NA 0 PE1 NX_Q9H2M9 155985 1393 5.4 1 Cytosol;Cytoplasm;Cell membrane Warburg micro syndrome 2;Martsolf syndrome 0 PE1 NX_Q9H2P0 123563 1102 6.97 20 Nucleoplasm;Nucleus Helsmoortel-van der Aa syndrome 0 PE1 NX_Q9H2P9 31651 285 5.19 1 Golgi apparatus NA 0 PE1 NX_Q9H2Q1 14539 129 8.65 11 Endoplasmic reticulum;Golgi apparatus;Membrane NA 2 PE2 NX_Q9H2R5 28087 256 8.27 19 Secreted NA 0 PE1 NX_Q9H2S1 63760 579 9.58 5 Nucleoplasm;Cytosol;Membrane NA 6 PE1 NX_Q9H2S5 45525 420 8.69 6 Cytoplasmic vesicle;Cytoplasm;Centrosome;Cell membrane NA 0 PE1 NX_Q9H2S6 37130 317 5.12 X Cytoplasm;Nucleus envelope;Membrane NA 1 PE1 NX_Q9H2S9 64106 585 6.39 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9H2T7 124375 1088 6.02 5 Cytosol;Cytoplasm;Nuclear pore complex;Nucleus;Nucleus membrane NA 0 PE1 NX_Q9H2U1 114760 1008 7.58 3 Nucleus speckle;Perikaryon;Dendrite;Cytosol;Cytoplasm;Telomere;Axon;Stress granule;Nucleus;Mitochondrion NA 0 PE1 NX_Q9H2U2 37920 334 7.07 4 Mitochondrion;Nucleus Sudden cardiac failure, infantile;Sudden cardiac failure, alcohol-induced 0 PE1 NX_Q9H2U6 11474 94 7.64 15 NA NA 0 PE5 NX_Q9H2U9 85669 754 6.08 8 Membrane NA 1 PE1 NX_Q9H2V7 56630 528 6.19 16 Endosome;Nucleolus;Golgi apparatus;Cytosol;Endoplasmic reticulum;Cytoplasmic vesicle;Mitochondrion inner membrane NA 12 PE1 NX_Q9H2W1 26943 248 6.57 11 Membrane NA 4 PE1 NX_Q9H2W2 24659 232 9.04 1 Nucleus NA 0 PE1 NX_Q9H2W6 31705 279 6.55 15 Mitochondrion;Nucleoplasm;Cell junction NA 0 PE1 NX_Q9H2X0 102032 955 8.07 3 Secreted NA 0 PE1 NX_Q9H2X3 45350 399 5.12 19 Cell membrane;Secreted NA 1 PE1 NX_Q9H2X6 130966 1198 8.69 7 Cytoplasm;Nucleus;PML body NA 0 PE1 NX_Q9H2X8 12410 130 5.36 14 Cytosol;Nucleolus;Mitochondrion membrane NA 3 PE1 NX_Q9H2X9 126184 1139 6.29 20 Membrane Epilepsy, idiopathic generalized 14;Epileptic encephalopathy, early infantile, 34 12 PE1 NX_Q9H2Y7 208883 1883 6.73 15 Cytosol;Nucleus speckle;Nucleolus;Nucleus NA 0 PE1 NX_Q9H2Y9 91864 848 7.96 8 Cell membrane NA 12 PE2 NX_Q9H2Z4 36179 354 9.6 20 Nucleus NA 0 PE1 NX_Q9H300 42190 379 9.82 3 Mitochondrion;Mitochondrion inner membrane;Nucleus NA 7 PE1 NX_Q9H305 21892 208 5.55 16 Nucleoplasm;Late endosome membrane;Lysosome membrane;Centrosome NA 0 PE1 NX_Q9H306 59026 513 8.83 11 Endoplasmic reticulum membrane NA 0 PE1 NX_Q9H307 81628 717 6.71 14 Nucleus speckle;Desmosome NA 0 PE1 NX_Q9H310 47231 441 8.74 1 Nucleoplasm;Cytoplasmic vesicle membrane;Basolateral cell membrane NA 12 PE1 NX_Q9H313 49051 450 4.88 19 Cell membrane NA 5 PE1 NX_Q9H320 22289 206 4.37 X NA NA 0 PE2 NX_Q9H321 26878 246 4.2 X NA NA 0 PE2 NX_Q9H322 14661 139 6.18 X NA NA 0 PE2 NX_Q9H324 120874 1103 8.34 19 Cytosol;Extracellular matrix Weill-Marchesani syndrome 1 0 PE1 NX_Q9H329 99712 900 9.17 9 Cytosol;Cytoplasm;Tight junction;Cell membrane NA 0 PE1 NX_Q9H330 97357 879 9.04 9 Cytosol;Cell membrane;Membrane NA 14 PE1 NX_Q9H334 75317 677 6.2 3 Nucleoplasm;Nucleus Mental retardation with language impairment and autistic features 0 PE1 NX_Q9H336 56888 500 8.47 8 Secreted NA 0 PE1 NX_Q9H339 35241 312 8.59 11 Cell membrane NA 7 PE2 NX_Q9H340 35269 312 9.26 11 Cell membrane NA 7 PE3 NX_Q9H341 36669 326 9.1 11 Cell membrane NA 7 PE3 NX_Q9H342 34838 316 8.5 11 Cell membrane NA 7 PE3 NX_Q9H343 35484 314 9.22 11 Cell membrane NA 7 PE2 NX_Q9H344 35002 312 8.98 11 Cell membrane NA 7 PE2 NX_Q9H346 35122 318 8.57 11 Cell membrane NA 7 PE2 NX_Q9H347 70841 655 5.01 11 NA NA 0 PE1 NX_Q9H354 14747 126 10.34 10 Membrane NA 1 PE5 NX_Q9H361 70031 631 9.68 13 Cytoplasm NA 0 PE1 NX_Q9H379 10324 93 7.47 9 NA NA 0 PE5 NX_Q9H3C7 79086 697 5.97 17 Cytoplasmic vesicle;Endoplasmic reticulum NA 0 PE1 NX_Q9H3D4 76785 680 6.12 3 Nucleoplasm;Cytosol;Nucleus;Golgi apparatus Ectodermal dysplasia, Rapp-Hodgkin type;Acro-dermato-ungual-lacrimal-tooth syndrome;Split-hand/foot malformation 4;Non-syndromic orofacial cleft 8;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3;Limb-mammary syndrome;Ankyloblepharon-ectodermal defects-cleft lip/palate 0 PE1 NX_Q9H3E2 97945 840 5.99 4 Cytoplasmic vesicle;Endosome membrane NA 0 PE1 NX_Q9H3F6 35432 313 5.97 12 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q9H3G5 54164 476 5.39 7 Endoplasmic reticulum NA 0 PE1 NX_Q9H3H1 52725 467 8.35 1 Nucleoplasm;Mitochondrion;Cytosol;Cytoplasm Combined oxidative phosphorylation deficiency 35 0 PE1 NX_Q9H3H3 31430 292 5.92 11 Nucleolus;Nucleus NA 0 PE1 NX_Q9H3H5 46090 408 8.25 11 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1J;Myasthenic syndrome, congenital, 13 10 PE1 NX_Q9H3H9 25850 227 5.79 X Cytosol;Nucleus speckle;Nucleus NA 0 PE1 NX_Q9H3J6 18828 166 9.82 12 Mitochondrion;Cytosol;Nucleus Combined oxidative phosphorylation deficiency 7;Spastic paraplegia 55, autosomal recessive 0 PE1 NX_Q9H3K2 37205 345 9.95 10 Mitochondrion;Mitochondrion inner membrane NA 7 PE1 NX_Q9H3K6 10117 86 6.07 16 Cytoplasm;Nucleus NA 0 PE1 NX_Q9H3L0 32940 296 5.16 2 Mitochondrion;Cytoplasm Methylmalonic aciduria and homocystinuria, cblD type 0 PE1 NX_Q9H3M0 55584 494 5.9 2 Golgi apparatus;Membrane NA 6 PE1 NX_Q9H3M7 43661 391 7.46 1 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9H3M9 40747 355 4.87 X Nucleus NA 0 PE1 NX_Q9H3N1 31791 280 4.91 14 Endoplasmic reticulum membrane;Nucleolus;Endoplasmic reticulum;Membrane NA 1 PE1 NX_Q9H3N8 44496 390 9.62 18 Cell membrane NA 7 PE1 NX_Q9H3P2 57277 528 9.1 4 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9H3P7 60593 528 5.02 1 Mitochondrion;Golgi apparatus membrane;Golgi apparatus NA 0 PE1 NX_Q9H3Q1 37980 356 5.05 17 Cytoskeleton;Cell membrane;Endomembrane system NA 0 PE1 NX_Q9H3Q3 46110 398 10.03 2 Golgi stack membrane NA 1 PE1 NX_Q9H3R0 119982 1056 6.06 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9H3R1 100716 872 7.19 4 Golgi apparatus membrane NA 1 PE1 NX_Q9H3R2 54604 512 4.91 3 Apical cell membrane;Cell membrane;Secreted NA 1 PE1 NX_Q9H3R5 28481 247 5.23 5 Kinetochore;Nucleolus;Nucleus NA 0 PE1 NX_Q9H3S1 83574 761 6.38 1 Nucleus;Cell membrane Retinitis pigmentosa 35;Cone-rod dystrophy 10 1 PE1 NX_Q9H3S3 49560 457 6.24 11 Nucleoplasm;Cell membrane NA 1 PE1 NX_Q9H3S4 27265 243 5.03 7 Cytoplasmic vesicle Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type 0 PE1 NX_Q9H3S5 49460 423 9.26 1 Endoplasmic reticulum membrane Glycosylphosphatidylinositol deficiency 10 PE1 NX_Q9H3S7 178974 1636 6.45 3 Endosome;Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Nucleus;Early endosome;Cilium basal body NA 0 PE1 NX_Q9H3T2 99686 930 8.36 1 Cytosol;Nucleoplasm;Nucleolus;Cell membrane NA 1 PE1 NX_Q9H3T3 95285 888 8.83 19 Cell membrane NA 1 PE1 NX_Q9H3U1 103077 944 5.8 15 Cytosol;Cytoplasm;Perinuclear region;Nucleus;Nucleus speckle NA 0 PE1 NX_Q9H3U5 51209 465 6.32 3 Nucleolus;Nucleus;Endoplasmic reticulum;Membrane NA 11 PE1 NX_Q9H3U7 49674 446 8.8 6 Basement membrane Dentin dysplasia 1 0 PE1 NX_Q9H3V2 22283 200 6.27 11 Membrane NA 4 PE2 NX_Q9H3W5 79424 708 8.02 7 Cytosol;Nucleus;Membrane NA 1 PE2 NX_Q9H3Y0 28605 253 9.25 20 Secreted NA 0 PE2 NX_Q9H3Y6 54507 488 8.51 20 Cytosol;Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q9H3Y8 11777 114 6.89 20 Nucleoplasm;Cytoskeleton;Nucleolus NA 0 PE1 NX_Q9H3Z4 22149 198 4.93 20 Melanosome;Golgi apparatus;Cell membrane;Membrane Ceroid lipofuscinosis, neuronal, 4B 0 PE1 NX_Q9H3Z7 52555 469 8.9 20 Nucleoplasm NA 0 PE1 NX_Q9H400 31288 295 9.7 20 Cell membrane NA 1 PE1 NX_Q9H410 40067 356 6.57 20 Cytosol;Kinetochore;Nucleolus;Nucleus NA 0 PE1 NX_Q9H422 133743 1215 7.16 11 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9H425 36346 327 5.6 1 Cytosol;Cytoplasm NA 0 PE1 NX_Q9H426 29329 269 5.65 20 Nucleoplasm;Synapse NA 0 PE1 NX_Q9H427 36130 330 9.89 20 Membrane NA 4 PE1 NX_Q9H444 24950 224 4.76 20 Cytosol;Late endosome membrane;Nucleus envelope;Midbody Cataract 31, multiple types 0 PE1 NX_Q9H446 27940 243 4.11 6 NA NA 0 PE1 NX_Q9H461 73300 694 8.58 10 Endoplasmic reticulum;Golgi apparatus;Cell membrane;Membrane NA 7 PE1 NX_Q9H467 32009 287 4.74 10 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 NX_Q9H469 32998 300 7.13 10 Cytoplasm NA 0 PE1 NX_Q9H477 34143 322 4.94 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9H478 7384 68 9.59 11 NA NA 0 PE2 NX_Q9H479 35171 309 7.13 17 Mitochondrion NA 0 PE1 NX_Q9H488 43956 388 8.77 20 Centrosome;Endoplasmic reticulum Dowling-Degos disease 2 0 PE1 NX_Q9H489 39573 355 8.24 20 NA NA 0 PE5 NX_Q9H490 50052 435 7.59 20 Cytosol;Nucleoplasm;Endoplasmic reticulum membrane NA 9 PE1 NX_Q9H492 14272 121 8.73 20 Autophagosome membrane;Cytoskeleton;Autophagosome;Endomembrane system NA 0 PE1 NX_Q9H496 15348 131 6.88 1 NA NA 0 PE1 NX_Q9H497 46199 397 5.67 1 Cytoplasm;Endoplasmic reticulum lumen NA 0 PE1 NX_Q9H4A3 250794 2382 5.94 12 Cytosol;Cytoplasm Neuropathy, hereditary sensory and autonomic, 2A;Pseudohypoaldosteronism 2C 0 PE1 NX_Q9H4A4 72596 650 5.51 1 Nucleoplasm;Golgi apparatus;Secreted NA 0 PE1 NX_Q9H4A5 32767 285 5.62 1 Cytosol;Golgi stack membrane;trans-Golgi network membrane;Cell membrane;Nucleoplasm NA 0 PE1 NX_Q9H4A6 33811 298 6.05 5 Golgi stack membrane;Endosome;trans-Golgi network membrane;Golgi apparatus;Cell membrane;Cytoplasmic vesicle;Mitochondrion intermembrane space NA 0 PE1 NX_Q9H4A9 53365 486 6.08 16 Membrane NA 0 PE1 NX_Q9H4B0 45123 414 8.83 2 Mitochondrion NA 0 PE1 NX_Q9H4B4 71629 646 9.28 1 Cytoplasm;Nucleolus;Nucleus;Centrosome;Golgi apparatus NA 0 PE1 NX_Q9H4B6 44634 383 9.12 14 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9H4B7 50327 451 5.05 20 Cytoplasm;Cytoskeleton Macrothrombocytopenia, autosomal dominant, TUBB1-related 0 PE1 NX_Q9H4B8 53687 488 8.11 16 Membrane NA 0 PE1 NX_Q9H4D0 107006 955 5.21 3 Endoplasmic reticulum membrane;Nucleus membrane;Nucleoplasm;Cell membrane;Golgi apparatus membrane;Cell junction NA 1 PE1 NX_Q9H4D5 60102 531 6.29 X Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9H4E5 23821 214 6.37 14 Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_Q9H4E7 73910 631 5.78 6 Nucleoplasm;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Filopodium;Cytoskeleton NA 0 PE1 NX_Q9H4F1 34201 302 8.9 9 Golgi apparatus membrane;Nucleus;Golgi apparatus NA 1 PE1 NX_Q9H4F8 48163 434 8.59 14 Basement membrane;Cell membrane Ophthalmoacromelic syndrome 0 PE1 NX_Q9H4G0 98503 881 5.43 20 Cytoskeleton;Cell membrane Mental retardation, autosomal dominant 11 0 PE1 NX_Q9H4G1 17276 147 5.93 20 Secreted NA 0 PE1 NX_Q9H4G4 17218 154 9.44 9 Cytoplasmic vesicle;Cytoskeleton;Golgi apparatus membrane NA 0 PE1 NX_Q9H4G8 8721 78 3.96 20 NA NA 0 PE5 NX_Q9H4H8 64424 585 6.1 20 Cytoplasm;Spindle;Spindle pole NA 0 PE1 NX_Q9H4I0 63324 556 5.07 20 Nucleus;Chromosome NA 0 PE1 NX_Q9H4I2 104658 956 5.73 20 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9H4I3 42321 376 8.15 22 Mitochondrion;Nucleus NA 0 PE1 NX_Q9H4I8 35369 314 6.3 22 Perinuclear region;Peroxisome NA 0 PE1 NX_Q9H4I9 11441 107 6.56 22 Mitochondrion;Nucleus;Mitochondrion inner membrane NA 1 PE1 NX_Q9H4K1 37060 309 9.57 22 NA NA 0 PE1 NX_Q9H4K7 43955 406 9.52 20 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_Q9H4L4 65010 574 8.82 17 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9H4L5 101224 887 6.42 7 Endoplasmic reticulum membrane;Nucleolus;Nucleus membrane;Cytosol;Filopodium tip;Cell membrane NA 0 PE1 NX_Q9H4L7 117402 1026 5.39 4 Nucleoplasm;Nucleus;Chromosome Basan syndrome;Adermatoglyphia 0 PE1 NX_Q9H4M3 29747 255 5.52 1 Nucleoplasm NA 0 PE1 NX_Q9H4M7 85401 779 10.57 19 Cytosol;Cytoplasm;Cell membrane;Membrane;Cytoskeleton;Centrosome NA 0 PE1 NX_Q9H4M9 60627 534 6.35 11 Cilium membrane;Early endosome membrane;Recycling endosome membrane;Cell membrane NA 0 PE1 NX_Q9H4P4 35905 317 5.75 12 Nucleus;Midbody ring NA 0 PE1 NX_Q9H4Q3 73981 707 9 6 Nucleus NA 0 PE2 NX_Q9H4Q4 40403 367 8.58 9 Nucleus Neuropathy, hereditary sensory and autonomic, 8 0 PE1 NX_Q9H4R4 11336 102 6.96 20 NA NA 0 PE5 NX_Q9H4S2 27883 264 9.17 13 Nucleus NA 0 PE2 NX_Q9H4T2 40792 348 8.36 6 Nucleus NA 0 PE1 NX_Q9H4W6 64864 596 8.91 10 Nucleus Hypotonia, ataxia, and delayed development syndrome 0 PE1 NX_Q9H4X1 14559 137 4.59 13 Cytoplasm;Nucleolus;Nucleus;Centrosome NA 0 PE1 NX_Q9H4Y5 28254 243 7.51 10 Nucleolus;Nucleus NA 0 PE1 NX_Q9H4Z2 144893 1342 5.97 20 Nucleoplasm;Nucleus Microcephaly 10, primary, autosomal recessive 0 PE1 NX_Q9H4Z3 80670 704 7.09 20 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9H501 98796 851 5.01 20 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9H503 10309 90 5.5 20 Cytoplasm;Nucleus NA 0 PE1 NX_Q9H511 70246 634 6.3 6 Nucleus NA 0 PE1 NX_Q9H521 9322 79 4.71 13 NA NA 0 PE5 NX_Q9H553 47092 416 6.61 9 Cytosol;Cytoskeleton;Membrane Myasthenic syndrome, congenital, 14;Congenital disorder of glycosylation 1I 1 PE1 NX_Q9H560 30436 264 9.15 9 NA NA 0 PE5 NX_Q9H568 41360 366 5.78 1 Cytosol;Cytoskeleton NA 0 PE1 NX_Q9H579 54816 483 5.96 20 Nucleus NA 0 PE1 NX_Q9H582 149565 1327 8.43 1 Cytoplasmic vesicle;Nucleus Myopia 21, autosomal dominant 0 PE1 NX_Q9H583 242370 2144 6.11 1 Mitochondrion;Nucleolus NA 0 PE1 NX_Q9H596 21529 190 8.95 X Mitochondrion inner membrane;Cytoplasm;Nucleus NA 0 PE1 NX_Q9H598 57415 525 6.19 20 Cytoplasmic vesicle membrane NA 10 PE1 NX_Q9H5F2 17785 150 8.68 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9H5H4 60229 540 8.27 16 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9H5I1 46682 410 8.55 10 Mitochondrion;Centromere;Nucleus NA 0 PE1 NX_Q9H5I5 318064 2752 5.82 18 Cytoplasmic vesicle;Membrane Arthrogryposis, distal, 3;Arthrogryposis, distal, 5;Arthrogryposis, distal, with impaired proprioception and touch;Marden-Walker syndrome 37 PE1 NX_Q9H5J0 61827 574 5.4 11 Mitochondrion;Nucleus NA 0 PE1 NX_Q9H5J4 31376 265 9.42 4 Endoplasmic reticulum membrane NA 7 PE1 NX_Q9H5J8 32058 278 8.8 11 Nucleoplasm;Nucleus;Microtubule organizing center NA 0 PE1 NX_Q9H5K3 40050 350 5.68 8 Endoplasmic reticulum membrane;Cytosol;Nucleus Muscular dystrophy-dystroglycanopathy limb-girdle C12;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 1 PE1 NX_Q9H5L6 103411 903 9.26 4 Mitochondrion NA 0 PE1 NX_Q9H5L9 15570 145 8.9 5 NA NA 0 PE5 NX_Q9H5N1 63543 569 4.76 16 Cytosol;Cytoplasmic vesicle;Cytoplasm;Early endosome NA 0 PE1 NX_Q9H5P4 111752 1033 9.74 10 Stereocilium;Nucleus;Cilium Usher syndrome 2A;Usher syndrome 2C;Deafness, autosomal recessive, 57 0 PE1 NX_Q9H5Q4 45349 396 9.3 1 Mitochondrion NA 0 PE1 NX_Q9H5U6 59010 513 9.06 4 Nucleus speckle;Golgi apparatus NA 0 PE1 NX_Q9H5V7 46510 419 7.09 10 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q9H5V8 92932 836 8.28 3 Cell membrane;Secreted NA 1 PE1 NX_Q9H5V9 25625 222 8.94 X Cytoplasm;Nucleus;Centrosome Mental retardation, X-linked 107 0 PE1 NX_Q9H5X1 18355 160 4.88 15 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q9H5Y7 95110 841 6.07 13 Cell membrane;Endoplasmic reticulum Deafness and myopia 1 PE1 NX_Q9H5Z1 78910 703 8.81 20 Nucleus;Centrosome NA 0 PE1 NX_Q9H5Z6 50961 455 6.86 2 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9H606 19976 182 10.13 Y NA NA 0 PE2 NX_Q9H607 29404 264 10.01 19 Golgi apparatus NA 0 PE2 NX_Q9H609 18890 170 8.79 19 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9H611 69799 641 9.81 15 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9H628 23855 205 9.56 12 Nucleoplasm NA 0 PE2 NX_Q9H633 17570 154 9.64 6 Nucleolus NA 0 PE1 NX_Q9H649 38244 340 9.09 3 Mitochondrion matrix;Nucleoplasm;Nucleus membrane NA 0 PE1 NX_Q9H665 37895 355 6.7 19 Focal adhesion;Cell membrane NA 1 PE1 NX_Q9H668 42119 368 5.72 10 Nucleus;Telomere Cerebroretinal microangiopathy with calcifications and cysts 2 0 PE1 NX_Q9H672 36011 318 8.57 15 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9H693 16793 158 9.83 16 Endoplasmic reticulum NA 0 PE1 NX_Q9H694 104844 974 8.75 10 Nucleoplasm;Cytoplasm Renal dysplasia, cystic 0 PE1 NX_Q9H6A0 53672 471 7.55 1 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q9H6A9 222039 2034 6.19 11 Cytosol;Membrane NA 13 PE1 NX_Q9H6B1 42296 395 10.04 3 Nucleus NA 0 PE1 NX_Q9H6B4 41281 373 8.11 11 Tight junction;Cell membrane Congenital short bowel syndrome 1 PE1 NX_Q9H6B9 40909 360 7.67 19 Microsome membrane NA 1 PE1 NX_Q9H6D3 44655 395 7.62 1 Golgi apparatus;Cell membrane;Endoplasmic reticulum NA 8 PE1 NX_Q9H6D7 42400 363 5.52 14 Spindle;Focal adhesion;Centrosome;Cell membrane NA 0 PE1 NX_Q9H6D8 25159 234 8.39 2 Nucleoplasm;Cytosol;Secreted;Membrane NA 1 PE2 NX_Q9H6E4 26561 229 8.89 22 Cytoplasm;Nucleus;Endoplasmic reticulum;Secreted NA 0 PE1 NX_Q9H6E5 93847 874 5.8 11 Cytosol;Nucleus speckle;Nucleolus;Nucleus NA 0 PE1 NX_Q9H6F2 33260 299 8.56 19 Nucleus;Nucleus membrane;Sarcoplasmic reticulum membrane NA 7 PE1 NX_Q9H6F5 40236 360 10.33 11 Nucleolus;Nucleus NA 0 PE1 NX_Q9H6H4 29395 257 9.74 8 Cytosol;Endoplasmic reticulum membrane NA 2 PE1 NX_Q9H6I2 44117 414 6 8 Nucleoplasm;Nucleus Vesicoureteral reflux 3 0 PE1 NX_Q9H6J7 37353 331 5.16 11 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q9H6K1 32872 298 4.43 6 Nucleus speckle;Nucleus NA 0 PE1 NX_Q9H6K4 19996 179 9.07 19 Mitochondrion;Cytosol;Nucleoplasm Optic atrophy 3;3-methylglutaconic aciduria 3 0 PE1 NX_Q9H6K5 132748 1346 10.48 19 Nucleus;Golgi apparatus NA 0 PE1 NX_Q9H6L2 36059 316 7.76 16 Cytoplasmic vesicle;Cilium membrane Meckel syndrome 11;Joubert syndrome 20 2 PE1 NX_Q9H6L4 21924 198 5.73 17 Cytosol NA 0 PE1 NX_Q9H6L5 54681 497 4.53 5 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum Neuropathy, hereditary sensory and autonomic, 2B 4 PE1 NX_Q9H6N6 128290 1097 5.4 7 NA NA 0 PE1 NX_Q9H6P5 44455 420 7.89 20 Cell membrane NA 0 PE1 NX_Q9H6Q3 28585 261 5.23 20 Cytoplasmic vesicle;Cytoplasm;Golgi apparatus;Cell membrane;Nucleoplasm NA 0 PE1 NX_Q9H6Q4 53020 476 6.81 16 Cytosol;Cell membrane NA 0 PE1 NX_Q9H6R0 78874 707 9.08 17 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;Inflammasome NA 0 PE1 NX_Q9H6R3 74778 686 8.84 12 Mitochondrion NA 0 PE1 NX_Q9H6R4 127593 1146 7.42 9 Mitochondrion;Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_Q9H6R6 47663 413 8.81 10 Endoplasmic reticulum membrane NA 4 PE1 NX_Q9H6R7 79136 721 6.23 2 Cytosol;Nucleolus NA 0 PE1 NX_Q9H6S0 160248 1430 8.68 5 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 NX_Q9H6S1 44935 392 6.15 3 Cytoplasm NA 0 PE1 NX_Q9H6S3 80621 715 6.39 11 Cytosol;Cytoplasm;Stereocilium;Cell membrane Deafness, autosomal recessive, 106 0 PE1 NX_Q9H6T0 78401 727 6.27 16 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9H6T3 75719 665 6.46 12 Cytosol NA 0 PE1 NX_Q9H6U6 101237 928 6.23 17 Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_Q9H6U8 69863 611 8.91 11 Endoplasmic reticulum membrane;Endoplasmic reticulum Gillessen-Kaesbach-Nishimura syndrome;Congenital disorder of glycosylation 1L 8 PE1 NX_Q9H6V9 37319 325 6.09 2 Cytosol;Nucleus speckle;Lipid droplet;Endoplasmic reticulum NA 0 PE1 NX_Q9H6W3 71086 641 6.02 14 Nucleoplasm;Nucleolus NA 0 PE1 NX_Q9H6X2 62789 564 7.54 2 Cytoplasmic vesicle;Filopodium membrane;Lamellipodium membrane;Cell membrane GAPO syndrome;Hemangioma, capillary infantile 1 PE1 NX_Q9H6X4 21586 195 6.08 11 Cytosol;Perinuclear region;Membrane NA 2 PE1 NX_Q9H6X5 71343 657 5.52 19 Nucleus NA 0 PE1 NX_Q9H6Y2 42070 383 4.78 5 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9H6Y5 35273 334 10.79 X NA NA 0 PE1 NX_Q9H6Y7 38299 350 5.37 17 Cytosol;Endomembrane system NA 1 PE1 NX_Q9H6Z4 60210 567 4.7 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9H6Z9 27261 239 7.56 14 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9H706 97186 876 6.32 18 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9H707 46198 407 8.84 19 Nucleus NA 0 PE1 NX_Q9H714 73457 662 5.69 13 Cytosol NA 0 PE1 NX_Q9H720 78584 699 8.75 4 Membrane NA 10 PE1 NX_Q9H741 23594 205 8.49 12 Secreted NA 0 PE1 NX_Q9H756 42334 370 5.01 9 Membrane NA 1 PE1 NX_Q9H765 31642 288 5.58 12 Cytoplasm NA 0 PE1 NX_Q9H772 19320 168 9.36 1 Secreted Tooth agenesis, selective, 9 0 PE1 NX_Q9H773 18681 170 4.93 16 Cytosol;Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q9H777 40019 363 6.32 18 Cytosol;Nucleus NA 0 PE1 NX_Q9H788 52727 454 8.09 8 Cytosol;Cytoplasm NA 0 PE1 NX_Q9H790 41816 373 5.28 1 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9H792 193106 1746 6.46 15 Focal adhesion;Cytoskeleton NA 0 PE1 NX_Q9H799 361746 3197 6.55 5 Cytosol;Cilium;Membrane Orofaciodigital syndrome 6;Joubert syndrome 17 2 PE1 NX_Q9H7B2 35583 306 10 6 Nucleolus;Nucleus NA 0 PE1 NX_Q9H7B4 49097 428 7.05 1 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q9H7B7 14425 122 9.47 7 Secreted NA 0 PE2 NX_Q9H7C4 55299 482 4.59 1 Cytoplasmic vesicle;Perinuclear region;Golgi apparatus;Cell membrane NA 0 PE1 NX_Q9H7C9 13332 122 8.58 11 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q9H7D0 215309 1870 8.08 8 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9H7D7 72124 661 5.74 1 Cytosol;Mitochondrion;Cytoplasm;Nucleus;Nucleoplasm Skraban-Deardorff syndrome 0 PE1 NX_Q9H7E2 73185 651 9.27 13 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Golgi apparatus NA 0 PE1 NX_Q9H7E9 24993 229 9.99 8 Nucleoplasm;Cell membrane NA 0 PE1 NX_Q9H7F0 138043 1226 6.21 3 Cytosol;Nucleolus;Cell membrane;Membrane NA 11 PE1 NX_Q9H7F4 40599 350 7.66 2 Membrane NA 7 PE1 NX_Q9H7H0 50734 456 9.45 14 Mitochondrion;Nucleus NA 0 PE1 NX_Q9H7J1 30644 279 11.16 14 Mitochondrion;Spindle;Cytoskeleton NA 0 PE1 NX_Q9H7L2 38777 352 8.69 19 Secreted NA 0 PE5 NX_Q9H7L9 38136 328 5.55 12 Cytosol;Nucleus NA 0 PE1 NX_Q9H7M6 110138 989 6.63 19 NA NA 0 PE1 NX_Q9H7M9 33908 311 6.45 10 Nucleoplasm;Cell membrane NA 1 PE1 NX_Q9H7N4 139270 1312 9.31 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9H7P6 35620 319 8.42 9 Cytoplasmic vesicle;Endosome;Late endosome membrane;Golgi apparatus NA 0 PE1 NX_Q9H7P9 147969 1386 5.57 19 Cytosol;Nucleoplasm Leukodystrophy and acquired microcephaly with or without dystonia 0 PE1 NX_Q9H7R0 72863 627 9.03 19 Cytoplasmic vesicle;Nucleus;Nucleus membrane NA 0 PE2 NX_Q9H7R5 70223 613 9.4 19 Nucleus;Nucleus membrane NA 0 PE1 NX_Q9H7S9 58222 590 8.99 8 Cytoplasm;Nucleus NA 0 PE1 NX_Q9H7T0 126924 1116 6.72 14 Cytoplasmic vesicle;Membrane NA 4 PE1 NX_Q9H7T3 26270 257 11.69 10 NA NA 0 PE1 NX_Q9H7T9 40253 357 7.19 1 Nucleus;Spindle pole;Chromosome;Centrosome NA 0 PE1 NX_Q9H7U1 93548 834 6.4 10 Cytosol;Nucleoplasm;Cytoskeleton NA 0 PE1 NX_Q9H7V2 28551 258 4.74 20 Synapse;Early endosome membrane;Cell membrane;Cytoplasmic vesicle;Dendrite;Dendritic spine;Postsynaptic density NA 1 PE1 NX_Q9H7X0 27451 242 7.21 16 Cytosol;Cytoskeleton;Golgi apparatus membrane NA 0 PE1 NX_Q9H7X2 15517 142 9.87 1 Membrane NA 1 PE2 NX_Q9H7X3 40575 374 9.26 8 Nucleolus;Nucleus NA 0 PE1 NX_Q9H7X7 20835 185 5.03 7 Cytosol;Cytoskeleton;Cilium NA 0 PE1 NX_Q9H7Y0 48555 433 8.11 X Secreted NA 0 PE1 NX_Q9H7Z3 132673 1164 7.72 14 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q9H7Z6 52403 458 8.48 16 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q9H7Z7 41943 377 9.22 9 Mitochondrion;Perinuclear region;Golgi apparatus membrane NA 1 PE1 NX_Q9H808 63473 572 5.78 19 Cytoplasm Preimplantation embryonic lethality 1 0 PE1 NX_Q9H813 40043 350 9.01 1 Membrane NA 2 PE1 NX_Q9H814 44403 394 5.27 5 Nucleoplasm;Cytoplasm;Cajal body NA 0 PE1 NX_Q9H816 60002 532 8.64 1 Nucleoplasm;Nucleus;Centrosome;Telomere Hoyeraal-Hreidarsson syndrome 0 PE1 NX_Q9H819 41551 358 7.04 5 Cell junction;Membrane NA 1 PE1 NX_Q9H825 33387 291 6.46 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9H832 38210 354 5.37 17 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9H840 14537 131 6.83 19 Cytosol;Cytoplasm;Nucleus;Gem;Nucleoplasm NA 0 PE1 NX_Q9H841 40785 368 9.05 8 Membrane NA 9 PE1 NX_Q9H845 68760 621 8.15 3 Mitochondrion Acyl-CoA dehydrogenase family, member 9, deficiency 0 PE1 NX_Q9H853 27551 241 7.71 2 Cytoskeleton NA 0 PE5 NX_Q9H857 60719 520 6.3 3 NA NA 0 PE1 NX_Q9H867 25807 229 4.83 14 Cytosol;Cytoplasm NA 0 PE1 NX_Q9H869 87944 796 8.04 1 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Grange syndrome 0 PE1 NX_Q9H871 43993 391 5.71 2 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q9H875 20997 184 9.78 7 Cytosol;Cytoskeleton;Nucleolus NA 0 PE1 NX_Q9H892 78756 705 5.5 11 Nucleoplasm NA 0 PE1 NX_Q9H898 25833 229 9.49 8 Cytoskeleton;Nucleus NA 0 PE1 NX_Q9H8E8 88844 782 6.14 20 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_Q9H8G1 66319 570 8.94 19 Nucleus NA 0 PE1 NX_Q9H8G2 38368 361 4.63 9 Cytoplasmic vesicle NA 0 PE1 NX_Q9H8H0 81124 719 5.74 17 Nucleolus NA 0 PE1 NX_Q9H8H2 94087 851 10.01 9 Cytoplasmic vesicle;Nucleolus;Golgi apparatus NA 0 PE1 NX_Q9H8H3 28319 244 8.7 12 Lipid droplet;Endoplasmic reticulum;Membrane NA 0 PE1 NX_Q9H8J5 46810 431 6.09 12 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 1 PE1 NX_Q9H8K7 49249 445 5.85 10 NA NA 0 PE1 NX_Q9H8L6 104409 949 5.56 10 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 NX_Q9H8M1 27071 238 9.67 2 Cytosol;Mitochondrion inner membrane NA 0 PE1 NX_Q9H8M2 67000 597 5.81 5 Nucleoplasm NA 0 PE1 NX_Q9H8M5 96623 875 6 10 Cytoplasmic vesicle;Cell membrane Hypomagnesemia 6;Hypomagnesemia, seizures, and mental retardation 3 PE1 NX_Q9H8M7 49725 445 4.69 10 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_Q9H8M9 17470 152 6.44 2 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Lysosome membrane;Cell membrane NA 1 PE1 NX_Q9H8N7 54939 513 7.17 8 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9H8P0 36521 318 9.49 4 Endoplasmic reticulum membrane;Cytosol;Cell membrane Kahrizi syndrome;Congenital disorder of glycosylation 1Q 6 PE1 NX_Q9H8Q6 16103 139 9.14 15 NA NA 0 PE5 NX_Q9H8S5 33574 307 8.96 19 NA NA 0 PE2 NX_Q9H8S9 25080 216 6.45 2 NA NA 0 PE1 NX_Q9H8T0 33128 292 9.34 16 Cytoplasm;Cell membrane NA 0 PE1 NX_Q9H8U3 25184 227 7.43 6 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9H8V3 103505 914 7.77 3 Cleavage furrow;Cytosol;Cytoplasm;Cell junction;Nucleus;Spindle;Midbody;Tight junction NA 0 PE1 NX_Q9H8V8 14815 135 11.93 4 NA NA 0 PE5 NX_Q9H8W2 13851 130 12.08 6 NA NA 0 PE5 NX_Q9H8W3 27021 233 7.69 10 Nucleolus;Nucleus NA 0 PE1 NX_Q9H8W4 27798 249 8.55 8 Endosome;Early endosome membrane;Endoplasmic reticulum NA 0 PE1 NX_Q9H8W5 64359 580 8.26 1 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9H8X2 56017 491 8.67 9 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9H8X3 13648 128 8.17 6 NA NA 0 PE5 NX_Q9H8X9 45975 412 8.65 5 Membrane NA 4 PE1 NX_Q9H8Y1 78260 702 9.17 14 Nucleoplasm NA 0 PE1 NX_Q9H8Y5 80927 726 8.69 2 Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q9H8Y8 47145 452 4.73 2 Endoplasmic reticulum membrane;Golgi apparatus membrane;Golgi apparatus NA 0 PE1 NX_Q9H900 67214 591 5.85 15 Kinetochore NA 0 PE1 NX_Q9H902 22255 201 9.52 2 Mitochondrion membrane;Endoplasmic reticulum;Membrane Neuronopathy, distal hereditary motor, 5B;Spastic paraplegia 31, autosomal dominant 2 PE1 NX_Q9H903 37315 347 9.38 4 Cytoplasm;Mitochondrion inner membrane NA 0 PE1 NX_Q9H910 20063 190 9.3 16 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9H920 37882 327 6.6 11 Cytoplasmic vesicle;Nucleus;Golgi apparatus;Membrane NA 6 PE1 NX_Q9H930 67005 580 8.79 2 Nucleoplasm NA 0 PE1 NX_Q9H936 34470 323 9.42 11 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane Epileptic encephalopathy, early infantile, 3 6 PE1 NX_Q9H939 38858 334 8.72 18 Mitochondrion;Cytoplasm;Nucleus;Cell membrane;Membrane NA 0 PE1 NX_Q9H944 23222 212 6.42 6 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q9H963 15019 129 9.39 19 Nucleus NA 0 PE5 NX_Q9H967 69769 626 9.35 15 Nucleolus;Nucleus NA 0 PE1 NX_Q9H972 58697 538 5.71 14 Nucleus;Cell membrane;Secreted NA 0 PE1 NX_Q9H974 46713 415 6.36 3 Nucleoplasm;Cytoplasm;Cytoskeleton;Mitochondrion outer membrane NA 0 PE1 NX_Q9H977 35891 334 5.77 2 Cytosol;Cytoplasmic vesicle NA 0 PE1 NX_Q9H981 70484 624 7.86 3 Nucleus;Centrosome;Chromosome NA 0 PE1 NX_Q9H987 102481 977 9.77 10 Cytosol;Nucleus speckle;Cytoskeleton;Cell junction NA 0 PE1 NX_Q9H992 78051 704 6.32 2 Cytosol;Cell membrane NA 0 PE1 NX_Q9H993 51172 441 5.48 6 Cytosol;Nucleus NA 0 PE1 NX_Q9H999 41094 370 6.13 5 Nucleoplasm;Cytoplasm;Golgi apparatus NA 0 PE1 NX_Q9H9A5 82310 744 7.95 3 Cytosol;Cytoplasm;Nucleus;Centrosome;Nucleoplasm NA 0 PE1 NX_Q9H9A6 68250 602 6.04 1 Nucleolus NA 0 PE1 NX_Q9H9A7 70144 625 4.86 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9H9B1 141466 1298 5.5 9 Nucleoplasm;Nucleus;Chromosome Kleefstra syndrome 1 0 PE1 NX_Q9H9B4 35619 322 9.22 5 Mitochondrion;Mitochondrion membrane NA 5 PE1 NX_Q9H9C1 57005 493 6.94 14 Cytoplasmic vesicle;Cytoplasm;Recycling endosome;Late endosome;Early endosome Arthrogryposis, renal dysfunction and cholestasis syndrome 2 0 PE1 NX_Q9H9D4 78439 720 6.88 11 Cytosol;Nucleus;Microtubule organizing center Retinitis pigmentosa 72;Vitreoretinopathy, exudative 6 0 PE1 NX_Q9H9E1 34272 313 4.99 5 Cytoskeleton;Cell junction;Cell membrane;Membrane NA 0 PE1 NX_Q9H9E3 89083 785 5.09 16 Cytoplasmic vesicle;Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2J 0 PE1 NX_Q9H9F9 68297 607 5.17 20 Cytoplasm;Nucleus NA 0 PE1 NX_Q9H9G7 97360 860 9.26 1 Cytosol;Nucleoplasm;P-body NA 0 PE1 NX_Q9H9H4 31307 285 6.78 12 Late endosome membrane NA 0 PE1 NX_Q9H9H5 21005 199 10.08 3 Cytosol;Cytoskeleton;Golgi apparatus NA 0 PE1 NX_Q9H9J2 37535 332 8.65 2 Mitochondrion;Nucleus;Cell membrane Combined oxidative phosphorylation deficiency 16 0 PE1 NX_Q9H9J4 145392 1324 8.87 7 Nucleus NA 0 PE1 NX_Q9H9K5 63547 563 8.16 4 Cytosol;Nucleus;Cell membrane;Secreted NA 1 PE1 NX_Q9H9L3 39154 353 9.94 1 Nucleoplasm;Nucleolus NA 0 PE1 NX_Q9H9L4 55042 492 6.18 12 Cytosol;Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9H9L7 21867 192 8.91 1 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_Q9H9P2 30431 273 6.38 21 Endoplasmic reticulum membrane;Cytoplasm;Endoplasmic reticulum;Membrane NA 1 PE1 NX_Q9H9P5 73828 680 8.42 16 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9H9P8 50316 463 8.45 14 Mitochondrion L-2-hydroxyglutaric aciduria 0 PE1 NX_Q9H9Q2 29622 264 5.83 2 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9H9Q4 33337 299 5.65 2 Nucleolus;Nucleus Severe combined immunodeficiency due to NHEJ1 deficiency 0 PE1 NX_Q9H9R9 17042 158 4.26 16 Cytosol;Nucleus speckle NA 0 PE1 NX_Q9H9S0 34620 305 6.32 12 Nucleus NA 0 PE1 NX_Q9H9S3 52248 476 8.31 10 Endoplasmic reticulum membrane NA 10 PE1 NX_Q9H9S4 39088 337 8.49 13 Cytoplasmic vesicle NA 0 PE1 NX_Q9H9S5 54568 495 7.05 19 Rough endoplasmic reticulum;Golgi apparatus;Secreted;Cytosol;Cytoplasm;Golgi apparatus membrane;Sarcolemma;Nucleus Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5;Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5;Muscular dystrophy-dystroglycanopathy limb-girdle C5 1 PE1 NX_Q9H9T3 62259 547 9.04 8 Cytoplasm;Nucleus NA 0 PE1 NX_Q9H9V4 17475 155 8.21 8 Endoplasmic reticulum;Golgi apparatus;Membrane NA 1 PE1 NX_Q9H9V9 52493 463 5.79 1 Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_Q9H9Y2 40111 349 10.01 1 Nucleolus NA 0 PE1 NX_Q9H9Y4 34561 310 5.07 1 NA NA 0 PE1 NX_Q9H9Y6 128229 1135 8.07 2 Cytosol;Nucleolus NA 0 PE1 NX_Q9H9Z2 22743 209 8.35 1 P-body;Stress granule;Cytoplasm;Nucleoplasm;Nucleolus;Rough endoplasmic reticulum NA 0 PE1 NX_Q9HA38 32059 289 9.12 3 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9HA47 31435 277 6.8 9 Nucleus NA 0 PE1 NX_Q9HA64 34412 309 6.84 17 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q9HA65 72728 648 5.05 19 Autophagosome NA 0 PE1 NX_Q9HA72 36175 323 7.61 10 Mitochondrion;Nucleoplasm;Cytosol;Membrane NA 4 PE1 NX_Q9HA77 62224 564 8.58 13 Mitochondrion;Mitochondrion matrix;Nucleoplasm Combined oxidative phosphorylation deficiency 27 0 PE1 NX_Q9HA82 46399 394 9.19 19 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Nucleus;Nucleus membrane;Endoplasmic reticulum NA 6 PE1 NX_Q9HA90 65701 598 5.44 3 NA NA 0 PE1 NX_Q9HA92 48714 442 7.7 17 Mitochondrion;Cytosol;Cell membrane;Nucleoplasm NA 0 PE1 NX_Q9HAA7 14475 133 9.61 21 NA NA 0 PE5 NX_Q9HAB3 45777 445 6.73 8 Cell membrane Brown-Vialetto-Van Laere syndrome 2 11 PE1 NX_Q9HAB8 34005 311 6.26 1 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 NX_Q9HAC7 48462 445 8.54 7 Mitochondrion Glutaric aciduria 3 0 PE1 NX_Q9HAC8 25938 227 7.69 10 Cytosol;Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_Q9HAD4 51728 459 5.25 5 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9HAE3 24488 211 4.91 8 Nucleoplasm;Cell membrane NA 0 PE1 NX_Q9HAF1 21635 191 9.32 1 Kinetochore;Nucleolus NA 0 PE1 NX_Q9HAH1 51581 456 9.94 19 Nucleus NA 0 PE1 NX_Q9HAH7 48388 460 9.96 16 Nucleoplasm NA 0 PE1 NX_Q9HAI6 33894 301 4.94 X Nucleoplasm;Cytoplasmic vesicle NA 0 PE1 NX_Q9HAJ7 20877 183 9.43 5 Nucleolus;Nucleus NA 0 PE1 NX_Q9HAK2 62650 575 9.21 8 Nucleus NA 0 PE1 NX_Q9HAN9 31932 279 8.98 1 Nucleoplasm;Nucleus Leber congenital amaurosis 9 0 PE1 NX_Q9HAP2 101185 919 8.61 12 Cytoplasm;Nucleus;Mitochondrion outer membrane NA 0 PE1 NX_Q9HAP6 22896 207 8.71 19 Synaptosome;Basolateral cell membrane;Cell membrane;Postsynaptic density;Cell junction;Tight junction NA 0 PE1 NX_Q9HAQ2 89986 790 6.71 3 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_Q9HAR2 161812 1447 5.99 4 Axon;Cell junction;Cell membrane NA 7 PE1 NX_Q9HAS0 44622 396 4.98 17 Cytosol;Cytoplasmic vesicle;Golgi apparatus;trans-Golgi network NA 0 PE1 NX_Q9HAS3 76930 691 7.56 9 Endoplasmic reticulum membrane;Cell membrane NA 13 PE1 NX_Q9HAT0 23893 212 5.52 3 Flagellum NA 0 PE1 NX_Q9HAT1 57129 526 7.73 15 Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE2 NX_Q9HAT2 58315 523 6.93 11 Secreted;Lysosome Autoimmune disease 6 0 PE1 NX_Q9HAT8 46435 420 6.97 14 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_Q9HAU0 127464 1116 7.2 12 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q9HAU4 86196 748 8.18 17 Nucleus speckle;Nucleus;Membrane raft;Cell membrane;Cytoplasm NA 0 PE1 NX_Q9HAU5 147810 1272 5.5 10 Cytosol;Cytoplasm;Perinuclear region NA 0 PE1 NX_Q9HAU6 15994 139 5.42 8 NA NA 0 PE5 NX_Q9HAU8 80000 725 5.06 2 Nucleolus;Nucleus NA 0 PE1 NX_Q9HAV0 37567 340 5.59 3 NA Charcot-Marie-Tooth disease, dominant, intermediate type, F 0 PE1 NX_Q9HAV4 136311 1204 5.56 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9HAV5 32759 297 4.91 X Cell junction;Membrane NA 1 PE1 NX_Q9HAV7 24279 217 8.24 4 Mitochondrion;Mitochondrion matrix NA 0 PE1 NX_Q9HAW0 46533 419 8.29 8 Nucleolus;Nucleus NA 0 PE1 NX_Q9HAW4 151094 1339 4.74 1 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9HAW7 59819 530 7.88 2 Endoplasmic reticulum membrane;Microsome NA 1 PE1 NX_Q9HAW8 59810 530 6.88 2 Endoplasmic reticulum membrane;Microsome NA 1 PE1 NX_Q9HAW9 59742 530 7.6 2 Endoplasmic reticulum membrane;Microsome NA 1 PE1 NX_Q9HAY2 35222 307 9.71 3 Cytoskeleton NA 0 PE1 NX_Q9HAY6 62637 547 6.21 16 Cytoskeleton;Microtubule organizing center Hypercarotenemia and vitamin A deficiency, autosomal dominant 0 PE1 NX_Q9HAZ1 57492 481 8.92 5 Cytoskeleton;Nucleus NA 0 PE1 NX_Q9HAZ2 140251 1276 5.81 1 Nucleoplasm;Nucleus Cardiomyopathy, dilated 1LL;Left ventricular non-compaction 8 0 PE1 NX_Q9HB03 31500 270 9.55 10 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cytosol NA 7 PE1 NX_Q9HB07 42449 376 6.19 12 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9HB09 36821 334 9.45 19 Cytosol NA 0 PE1 NX_Q9HB14 45391 408 8.73 14 Nucleus speckle;Cell junction;Membrane NA 4 PE1 NX_Q9HB15 46889 430 9.89 2 Membrane NA 4 PE1 NX_Q9HB19 47255 425 8.92 8 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9HB20 33861 300 6.19 2 trans-Golgi network membrane;Golgi apparatus NA 0 PE1 NX_Q9HB21 45553 404 8.77 10 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9HB29 65405 575 7.24 2 Membrane NA 1 PE1 NX_Q9HB31 22879 216 9.12 17 Nucleus NA 0 PE3 NX_Q9HB40 50831 452 5.6 17 Golgi apparatus;Secreted NA 0 PE1 NX_Q9HB55 57670 503 8.27 7 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_Q9HB58 78396 689 9.1 2 Nucleus Hepatic venoocclusive disease with immunodeficiency 0 PE1 NX_Q9HB63 70071 628 8.44 12 Basement membrane NA 0 PE1 NX_Q9HB65 45361 397 5.73 15 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9HB71 26210 228 8.28 1 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9HB75 99712 910 6.01 11 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9HB89 47351 426 9.06 2 Cell membrane NA 7 PE2 NX_Q9HB90 44224 399 4.94 1 Cytoplasmic vesicle;Cytoplasm;Nucleus;Lysosome NA 0 PE1 NX_Q9HB96 58711 536 5.17 6 Nucleoplasm;Nucleus Fanconi anemia complementation group E 0 PE1 NX_Q9HBA0 98281 871 7.83 12 Adherens junction;Apical cell membrane;Cilium;Endoplasmic reticulum;Cell membrane Parastremmatic dwarfism;Charcot-Marie-Tooth disease 2C;Brachyolmia 3;Metatropic dysplasia;Spondylometaphyseal dysplasia Kozlowski type;Scapuloperoneal spinal muscular atrophy;Neuronopathy, distal hereditary motor, 8;Digital arthropathy-brachydactyly, familial;Avascular necrosis of the femoral head, primary 2;Spondyloepiphyseal dysplasia Maroteaux type 6 PE1 NX_Q9HBA9 50045 442 6.53 11 Cytoplasm NA 0 PE2 NX_Q9HBB8 88223 845 4.81 11 Microvillus membrane;Apical cell membrane NA 1 PE1 NX_Q9HBD1 131669 1191 6.43 9 Cytoplasmic vesicle;P-body NA 0 PE1 NX_Q9HBE1 74060 687 8.71 22 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9HBE4 17923 155 9.42 4 Secreted Immunodeficiency, common variable, 11 0 PE1 NX_Q9HBE5 59130 538 4.57 16 Cytosol;Cell membrane;Membrane Immunodeficiency 56 1 PE1 NX_Q9HBF4 87176 777 7.29 14 Golgi stack;Endoplasmic reticulum NA 0 PE1 NX_Q9HBF5 9024 79 8.52 15 NA NA 0 PE2 NX_Q9HBG4 96386 840 5.75 7 Cytosol;Apical cell membrane Renal tubular acidosis, distal, autosomal recessive 8 PE1 NX_Q9HBG6 141825 1241 6.08 3 Cytosol;Nucleoplasm;Cytoplasm;Cilium;Cilium basal body Cranioectodermal dysplasia 1 0 PE1 NX_Q9HBG7 72139 655 5.36 1 Cell membrane;Membrane NA 1 PE1 NX_Q9HBH0 23625 211 8.9 12 Cytoskeleton;Nucleus;Cell membrane;Golgi apparatus NA 0 PE1 NX_Q9HBH1 27013 243 9.48 16 Nucleoplasm;Mitochondrion NA 0 PE1 NX_Q9HBH5 36865 336 9.02 2 Cytosol;Nucleoplasm;Endoplasmic reticulum NA 0 PE1 NX_Q9HBH7 14860 125 6.31 X Cytoplasm;Nucleus NA 0 PE1 NX_Q9HBH9 51875 465 5.8 19 Cytoplasm;Nucleus;PML body NA 0 PE1 NX_Q9HBI0 37485 331 5.32 22 Focal adhesion;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q9HBI1 41714 364 6.26 22 Cytosol;Cell membrane;Focal adhesion;Sarcomere;Lamellipodium;Cytoskeleton;Z line NA 0 PE1 NX_Q9HBI5 15007 128 5.67 3 Cytosol;Cell membrane NA 0 PE1 NX_Q9HBI6 60146 524 6.26 19 Microsome membrane NA 1 PE1 NX_Q9HBJ0 23616 212 6.23 X Nucleus;Cell membrane;Secreted NA 0 PE1 NX_Q9HBJ7 104156 922 5.62 19 NA NA 0 PE2 NX_Q9HBJ8 25235 222 5.43 X Cytoplasmic vesicle;Cell membrane;Endoplasmic reticulum NA 1 PE1 NX_Q9HBK9 41748 375 5.83 10 Mitochondrion;Cytosol;Nucleus NA 0 PE1 NX_Q9HBL0 185701 1735 7.55 2 Cell surface;Focal adhesion;Cytoskeleton NA 0 PE1 NX_Q9HBL6 38171 345 6.26 3 Membrane NA 1 PE2 NX_Q9HBL7 17201 147 9.58 9 Mitochondrion;Cell membrane NA 2 PE1 NX_Q9HBL8 33344 299 7.06 16 Cytoplasm;Perinuclear region;Nucleus NA 0 PE1 NX_Q9HBM0 88665 779 5.11 12 Acrosome;Cytosol;Cell membrane;Nucleoplasm;Nucleus;Adherens junction;Stereocilium membrane NA 2 PE1 NX_Q9HBM1 26153 224 7.7 2 Kinetochore;Cytosol;Nucleus NA 0 PE1 NX_Q9HBM6 27622 251 9.58 X Nucleus NA 0 PE1 NX_Q9HBQ8 15482 144 5.27 12 NA NA 0 PE5 NX_Q9HBR0 119762 1119 5.51 17 Golgi apparatus;Membrane NA 10 PE1 NX_Q9HBT6 88993 801 4.54 18 Cell membrane NA 1 PE1 NX_Q9HBT7 87565 754 8.8 17 Nucleus;Golgi apparatus NA 0 PE1 NX_Q9HBT8 60175 521 8.64 17 Nucleolus;Nucleus NA 0 PE1 NX_Q9HBU1 27298 254 9.72 9 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9HBU6 50968 452 6.09 12 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA 0 PE1 NX_Q9HBU9 40448 364 5.23 3 Sarcolemma;Membrane NA 2 PE1 NX_Q9HBV1 33870 291 8.12 6 Cytosol;Nucleolus;Membrane NA 3 PE2 NX_Q9HBV2 32143 294 4.57 6 Acrosome inner membrane NA 1 PE1 NX_Q9HBW0 39084 351 9.48 19 Cell surface;Cell membrane NA 7 PE1 NX_Q9HBW1 72717 653 6.58 7 Postsynaptic cell membrane;Golgi apparatus;Membrane NA 1 PE1 NX_Q9HBW9 77811 690 7.81 1 Cell membrane NA 7 PE1 NX_Q9HBX3 12922 110 8.84 7 NA NA 0 PE4 NX_Q9HBX8 104298 967 5.43 1 Nucleoplasm;Cell membrane NA 7 PE1 NX_Q9HBX9 86975 757 8.39 4 Cell membrane NA 7 PE1 NX_Q9HBY0 64935 568 8.28 6 Cytoplasmic vesicle;Membrane NA 6 PE1 NX_Q9HBY8 47604 427 7.16 20 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9HBZ2 78691 717 6.25 15 Nucleus Webb-Dattani syndrome 0 PE1 NX_Q9HC07 34906 324 6.53 4 Lysosome membrane;trans-Golgi network membrane;Golgi apparatus;Early endosome membrane;Cytoplasmic vesicle;Late endosome membrane;Golgi apparatus membrane Congenital disorder of glycosylation 2K 6 PE1 NX_Q9HC10 226753 1997 5.49 2 Endoplasmic reticulum membrane;Synaptic vesicle membrane;Basolateral cell membrane;Cell membrane Auditory neuropathy, autosomal recessive, 1;Deafness, autosomal recessive, 9 1 PE1 NX_Q9HC16 46408 384 8.28 22 Cytoplasm;P-body;Nucleus NA 0 PE1 NX_Q9HC21 35511 320 9.61 17 Mitochondrion inner membrane Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type;Microcephaly, Amish type 6 PE1 NX_Q9HC23 14314 129 10.12 3 Secreted Hypogonadotropic hypogonadism 4 with or without anosmia 0 PE1 NX_Q9HC24 26971 238 6.58 12 Golgi apparatus membrane NA 6 PE1 NX_Q9HC29 115283 1040 6.3 16 Basolateral cell membrane;Golgi apparatus;Cytosol;Cytoplasm;Membrane;Mitochondrion Blau syndrome;Inflammatory bowel disease 1;Yao syndrome 0 PE1 NX_Q9HC35 108916 981 5.96 2 Cytosol;Cytoskeleton NA 0 PE1 NX_Q9HC36 47020 420 8.89 17 Mitochondrion NA 0 PE1 NX_Q9HC38 34793 313 5.4 17 Cytosol;Mitochondrion;Nucleolus;Nucleus NA 0 PE1 NX_Q9HC44 52302 474 6.36 1 Nucleoplasm;Focal adhesion;Nucleus;Cell membrane NA 0 PE1 NX_Q9HC47 8406 74 5.3 18 Membrane NA 2 PE2 NX_Q9HC52 43396 389 9.92 17 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9HC56 136064 1237 5.26 13 Nucleoplasm;Centrosome;Cell membrane NA 1 PE1 NX_Q9HC57 23977 220 8.77 16 Secreted NA 0 PE1 NX_Q9HC58 71992 644 5.19 20 Membrane NA 10 PE1 NX_Q9HC62 67855 589 9.54 3 Cytosol;Cytoplasm;Nuclear pore complex;Nucleus membrane NA 0 PE1 NX_Q9HC73 42013 371 5.11 X Cell membrane;Secreted NA 1 PE1 NX_Q9HC77 153000 1338 6.23 13 Centriole;Nucleoplasm;Centrosome;Cell membrane Microcephaly 6, primary, autosomal recessive;Seckel syndrome 4 0 PE1 NX_Q9HC78 81083 741 6.03 3 Nucleoplasm;Nucleus Primrose syndrome 0 PE1 NX_Q9HC84 596340 5762 6.2 11 Cytoplasmic vesicle;Secreted Pulmonary fibrosis, idiopathic 0 PE1 NX_Q9HC96 74952 672 7.97 2 Cytosol;Nucleoplasm Diabetes mellitus, non-insulin-dependent, 1 0 PE1 NX_Q9HC97 34072 309 9.06 2 Cell membrane NA 7 PE1 NX_Q9HC98 35714 313 8.26 9 Nucleus speckle;Nucleoplasm;Cytoplasm;Spindle pole;Microtubule organizing center;Cytosol;Nucleus;Centrosome NA 0 PE1 NX_Q9HCB6 90973 807 5.85 11 Cytoskeleton;Nucleolus;Nucleus;Extracellular matrix NA 0 PE1 NX_Q9HCC0 61333 563 7.58 5 Mitochondrion matrix;Mitochondrion 3-methylcrotonoyl-CoA carboxylase 2 deficiency 0 PE1 NX_Q9HCC6 23523 221 11.11 1 Cytoplasmic vesicle;Nucleoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q9HCC8 61729 539 8.77 X Cytoplasm;Cytoskeleton;Cell membrane NA 6 PE1 NX_Q9HCC9 96490 887 4.99 4 Cytosol;Early endosome membrane;Nucleus;Cell membrane NA 0 PE1 NX_Q9HCD5 65536 579 9.62 20 Cytoskeleton;Nucleus NA 0 PE1 NX_Q9HCD6 219650 1990 8.31 17 Cytosol NA 0 PE1 NX_Q9HCE0 292481 2579 5.99 18 Nucleus speckle Vici syndrome 0 PE1 NX_Q9HCE1 113671 1003 9 1 P-body;Cytosol;Cytoplasm;Cytoplasmic ribonucleoprotein granule;Stress granule;Nucleus NA 0 PE1 NX_Q9HCE3 141696 1301 8.92 18 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9HCE5 52150 456 5.89 4 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9HCE6 140379 1279 5.62 1 Cytosol;Cytoplasmic vesicle;Golgi apparatus;Cytoplasm NA 0 PE1 NX_Q9HCE7 86114 757 6.56 7 Cytoplasm;Cell membrane NA 0 PE1 NX_Q9HCE9 136034 1232 5.62 19 Nucleoplasm;Nucleolus;Cell membrane NA 8 PE1 NX_Q9HCF6 197571 1732 6.74 9 Membrane NA 7 PE1 NX_Q9HCG1 94112 818 9.44 19 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 NX_Q9HCG7 104649 927 5.61 9 Endoplasmic reticulum membrane;Cytosol;Golgi apparatus membrane;Golgi apparatus;Nucleoplasm Spastic paraplegia 46, autosomal recessive 0 PE1 NX_Q9HCG8 105466 908 6.6 2 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 NX_Q9HCH0 139013 1330 8.45 12 Centrosome;Golgi apparatus NA 0 PE1 NX_Q9HCH3 65734 593 5.65 6 Cytosol;Perikaryon;Cell projection NA 0 PE1 NX_Q9HCH5 104930 934 7.96 11 Cytoplasm;Nucleus;Golgi apparatus;Cell membrane NA 0 PE1 NX_Q9HCI5 103254 957 5.24 X Cytosol;Perinuclear region;Nucleus;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q9HCI6 89673 787 7.78 6 Nucleus;Nucleus membrane NA 0 PE1 NX_Q9HCI7 62541 577 8.11 3 Cytosol NA 0 PE1 NX_Q9HCJ0 175964 1690 6.47 17 Nucleus NA 0 PE1 NX_Q9HCJ1 54241 492 8 5 Cytosol;Membrane Chondrocalcinosis 2;Craniometaphyseal dysplasia, autosomal dominant 8 PE1 NX_Q9HCJ2 71950 640 6.7 11 Cytosol;Postsynaptic cell membrane NA 1 PE1 NX_Q9HCJ3 74339 691 7.12 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9HCJ5 133470 1215 7.01 5 Cytosol Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features;Acromelic frontonasal dysostosis 0 PE1 NX_Q9HCJ6 45899 419 4.98 16 Cytosol NA 0 PE1 NX_Q9HCK0 49953 441 6.62 9 Nucleus NA 0 PE1 NX_Q9HCK1 265618 2354 5.79 2 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9HCK4 151200 1378 5.95 3 Membrane;Nucleus;Microtubule organizing center Vesicoureteral reflux 2 1 PE1 NX_Q9HCK5 97097 861 9.21 1 Nucleoplasm;Cytosol;P-body;Nucleus NA 0 PE1 NX_Q9HCK8 290519 2581 6.04 14 Nucleoplasm;Nucleus Autism 18 0 PE1 NX_Q9HCL0 126149 1135 4.99 4 Cytosol;Cell membrane;Golgi apparatus NA 1 PE1 NX_Q9HCL2 93795 828 7.81 10 Mitochondrion;Mitochondrion outer membrane NA 2 PE1 NX_Q9HCL3 63463 533 8.92 19 Nucleus speckle;Nucleus NA 0 PE1 NX_Q9HCM1 194857 1747 8.95 12 Cytosol;Cytoskeleton;Nucleolus NA 0 PE1 NX_Q9HCM2 212455 1894 6.42 7 Cell membrane NA 1 PE1 NX_Q9HCM3 210755 1950 5.75 7 Cytoskeleton;Nucleus membrane;Membrane NA 2 PE1 NX_Q9HCM4 81856 733 6.15 2 Cytoplasm;Cell membrane;Adherens junction NA 0 PE1 NX_Q9HCM7 110907 1045 9.7 12 Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q9HCM9 59690 518 7.8 6 Cytosol;Mitochondrion NA 0 PE1 NX_Q9HCN2 12935 124 10.26 11 Mitochondrion NA 0 PE2 NX_Q9HCN3 84761 771 7.67 16 Nucleoplasm;Cytoskeleton;Lysosome membrane;Cell membrane NA 7 PE1 NX_Q9HCN4 41740 374 4.8 2 Mitochondrion;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 NX_Q9HCN6 36866 339 9.35 19 Nucleoplasm;Cell membrane Bleeding disorder, platelet-type 11 1 PE1 NX_Q9HCN8 23598 221 6.52 22 Endoplasmic reticulum lumen NA 0 PE1 NX_Q9HCP0 48511 422 9.13 15 Cytosol;Cytoplasm NA 0 PE1 NX_Q9HCP6 56703 504 6.67 3 Endoplasmic reticulum membrane NA 8 PE1 NX_Q9HCQ5 68359 603 8.73 12 Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 NX_Q9HCQ7 22309 196 9.26 7 Secreted NA 0 PE1 NX_Q9HCR9 104752 933 6.15 2 Cytosol Primary pigmented nodular adrenocortical disease 2 0 PE1 NX_Q9HCS2 60309 524 7.29 19 Endoplasmic reticulum membrane;Microsome membrane NA 2 PE1 NX_Q9HCS4 62631 588 9 2 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9HCS5 79059 686 9.44 5 Nucleoplasm;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q9HCS7 100010 855 5.87 19 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9HCT0 19663 170 11.81 19 Secreted NA 0 PE1 NX_Q9HCU0 80859 757 5.18 11 Nucleoplasm;Cell membrane;Membrane NA 1 PE1 NX_Q9HCU4 317453 2923 5.14 1 Cytosol;Cell membrane NA 7 PE1 NX_Q9HCU5 45468 417 8.02 2 Endoplasmic reticulum membrane;Nucleus;Endoplasmic reticulum NA 1 PE1 NX_Q9HCU8 12433 107 6.29 11 Cytosol;Mitochondrion;Nucleolus;Nucleus NA 0 PE1 NX_Q9HCU9 28461 246 4.69 11 Cytoplasm;Nucleus;Centrosome;Endoplasmic reticulum NA 0 PE1 NX_Q9HCX3 75047 659 8.73 19 Nucleus speckle;Nucleus NA 0 PE1 NX_Q9HCX4 99562 862 8.02 5 Cytoskeleton;Focal adhesion;Nucleus envelope;Cell membrane NA 6 PE1 NX_Q9HCY8 11662 104 5.16 1 Cytosol;Cytoplasm;Nucleus;Cell junction;Cell membrane NA 0 PE1 NX_Q9HCZ1 79649 680 9.33 20 Cytosol;Nucleus NA 0 PE1 NX_Q9HD15 25673 236 6.54 5 Nucleoplasm;Cytosol;Cytoskeleton;Nucleus;Cytoplasm NA 0 PE1 NX_Q9HD20 132955 1204 8.46 19 Endoplasmic reticulum membrane;Cytoplasmic vesicle NA 10 PE1 NX_Q9HD23 50318 443 6.44 6 Mitochondrion inner membrane NA 2 PE1 NX_Q9HD26 50520 462 5.59 6 Synapse;trans-Golgi network membrane;Golgi apparatus;Cytosol;Cytoplasm;Dendrite;Golgi apparatus membrane;Postsynaptic density NA 0 PE1 NX_Q9HD33 29450 250 10.38 3 Mitochondrion NA 0 PE1 NX_Q9HD34 10758 91 10.73 6 Mitochondrion;Nucleus Combined oxidative phosphorylation deficiency 19 0 PE1 NX_Q9HD36 21973 194 9.63 15 Mitochondrion;Nucleus membrane NA 1 PE1 NX_Q9HD40 55726 501 8.31 4 Cytoplasmic vesicle;Cytoplasm Pontocerebellar hypoplasia 2D 0 PE1 NX_Q9HD42 21703 196 7.77 16 Endosome membrane;Cytoplasm;Nucleus matrix Pontocerebellar hypoplasia 8 0 PE1 NX_Q9HD43 122353 1115 5.16 19 Mitochondrion;Cytoplasm;Microvillus membrane;Apical cell membrane NA 1 PE1 NX_Q9HD45 67888 589 6.83 10 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 9 PE1 NX_Q9HD47 20448 186 4.8 17 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus;Cell membrane NA 0 PE1 NX_Q9HD64 9078 81 9.65 X Nucleus speckle NA 0 PE1 NX_Q9HD67 237347 2058 5.85 5 Nucleolus;Ruffle;Cytosol;Cell cortex;Filopodium tip;Cell membrane;Filopodium membrane;Lamellipodium;Cytoskeleton NA 0 PE1 NX_Q9HD87 12368 102 8.35 6 Membrane NA 1 PE5 NX_Q9HD89 11419 108 6.52 19 Secreted NA 0 PE1 NX_Q9HD90 37041 331 6.37 12 Nucleus NA 0 PE1 NX_Q9HDB5 69305 637 6.75 14 Membrane NA 1 PE1 NX_Q9HDB8 27904 245 5.6 3 Virion NA 0 PE2 NX_Q9HDB9 73588 667 9.26 3 Cell membrane NA 0 PE1 NX_Q9HDC5 71686 661 9.37 8 Endoplasmic reticulum membrane;Nucleus;Cell membrane;Sarcoplasmic reticulum membrane NA 1 PE1 NX_Q9HDC9 46480 416 5.82 20 Cell membrane;Membrane NA 1 PE1 NX_Q9HDD0 18750 168 5.37 3 Cytosol;Focal adhesion;Membrane NA 1 PE2 NX_Q9N2J8 60911 555 8.88 2 Virion;Cell membrane NA 1 PE2 NX_Q9N2K0 64318 584 8.61 2 Virion;Cell membrane NA 1 PE2 NX_Q9NNW5 121725 1121 6.41 3 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9NNW7 56507 524 7.24 22 Cytosol;Cytoplasm;Mitochondrion;Nucleus Glucocorticoid deficiency 5 0 PE1 NX_Q9NNX1 44264 390 5.68 1 Cytoplasmic vesicle;Cytoplasm;Secreted NA 0 PE1 NX_Q9NNX6 45775 404 5.43 19 Cell membrane;Secreted NA 1 PE1 NX_Q9NNX9 20020 186 4.51 X NA NA 0 PE2 NX_Q9NNZ3 27593 241 10.56 11 Membrane NA 1 PE1 NX_Q9NNZ6 11232 103 4.56 16 Nucleus;Chromosome NA 0 PE1 NX_Q9NP08 36155 348 6.28 4 Nucleus Oculoauricular syndrome 0 PE1 NX_Q9NP31 42934 389 6.96 1 Cytoplasm NA 0 PE1 NX_Q9NP50 24852 221 9.51 12 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q9NP55 26713 256 5.42 20 Secreted NA 0 PE1 NX_Q9NP56 51835 450 6.54 6 Nucleoplasm NA 0 PE1 NX_Q9NP58 93886 842 8.75 2 Endoplasmic reticulum membrane;Golgi apparatus;Cytosol;Cell membrane;Mitochondrion outer membrane;Endosome membrane;Nucleoplasm;Golgi apparatus membrane;Mitochondrion Dyschromatosis universalis hereditaria 3;Microphthalmia, isolated, with coloboma, 7;Pseudohyperkalemia, familial, 2, due to red cell leak 10 PE1 NX_Q9NP59 62542 571 6.08 2 Cytosol;Nucleoplasm;Cell membrane Hemochromatosis 4 10 PE1 NX_Q9NP60 78670 686 6.05 X Membrane NA 1 PE2 NX_Q9NP61 56928 516 7.04 22 Cytosol;Cytoplasm;Golgi apparatus membrane;Golgi apparatus NA 0 PE1 NX_Q9NP62 49268 436 6.57 6 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9NP64 27570 241 9.72 1 Nucleus speckle;Nucleolus NA 0 PE1 NX_Q9NP66 40144 347 6.08 15 Nucleus NA 0 PE1 NX_Q9NP70 48283 447 4.79 4 Extracellular matrix Amelogenesis imperfecta 1F 0 PE1 NX_Q9NP71 93073 852 8.7 7 Nucleus NA 0 PE1 NX_Q9NP72 22977 206 5.11 10 Cytoplasm;Nucleus;Cell membrane Warburg micro syndrome 3 0 PE1 NX_Q9NP73 126056 1137 6.28 X Endoplasmic reticulum Epileptic encephalopathy, early infantile, 36 0 PE1 NX_Q9NP74 62758 551 5.31 1 Cytoplasm;Cell membrane;Dendrite;Focal adhesion;Dendritic spine;Cytoskeleton NA 0 PE1 NX_Q9NP77 22574 194 5.16 1 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9NP78 84475 766 8 12 Cytoplasmic vesicle;Lysosome membrane NA 8 PE1 NX_Q9NP79 33879 307 5.87 6 Nucleoplasm;Cytoplasmic vesicle;Endosome membrane;Cytosol;Cytoplasm NA 0 PE1 NX_Q9NP80 88477 782 9.31 7 Endoplasmic reticulum membrane;Golgi apparatus;Nucleoplasm;Cytosol;Perinuclear region;Golgi apparatus membrane;Cytoskeleton Mitochondrial myopathy with lactic acidosis 1 PE1 NX_Q9NP81 58283 518 8.35 19 Mitochondrion matrix Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 0 PE1 NX_Q9NP84 13911 129 9.37 16 Cytosol;Cell membrane;Membrane NA 1 PE1 NX_Q9NP85 42201 383 8.95 1 Endoplasmic reticulum;Cell membrane Nephrotic syndrome 2 0 PE1 NX_Q9NP86 19826 173 4.45 19 Cytoplasm NA 0 PE1 NX_Q9NP87 54816 494 8.74 7 Nucleus NA 0 PE1 NX_Q9NP90 22719 201 4.74 X Phagosome membrane;Cell membrane;Phagosome NA 0 PE1 NX_Q9NP91 65914 592 6.25 3 Apical cell membrane Hyperglycinuria;Iminoglycinuria 12 PE1 NX_Q9NP92 50365 439 8.21 5 Cytosol;Nucleoplasm;Mitochondrion NA 0 PE1 NX_Q9NP94 32742 309 5.85 14 Cell membrane NA 8 PE1 NX_Q9NP95 23499 211 8.89 8 Secreted Renal hypodysplasia/aplasia 2 0 PE1 NX_Q9NP97 10922 96 6.58 20 Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q9NP98 31745 299 8.86 10 Nucleus;Pseudopodium NA 0 PE1 NX_Q9NP99 26387 234 9 6 Cell membrane;Secreted NA 1 PE1 NX_Q9NPA0 26471 242 9.24 15 Nucleoplasm;Membrane NA 1 PE1 NX_Q9NPA1 31604 279 6.88 3 Mitochondrion;Nucleus;Membrane NA 2 PE1 NX_Q9NPA2 62554 562 8.76 16 Cell membrane;Extracellular matrix NA 0 PE1 NX_Q9NPA3 20202 183 5.25 X Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9NPA5 74644 681 8.77 20 Nucleus NA 0 PE1 NX_Q9NPA8 11529 101 9.39 8 Nucleoplasm;Mitochondrion;Nuclear pore complex;Nucleus NA 0 PE1 NX_Q9NPB0 20163 183 8.95 6 Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA 1 PE1 NX_Q9NPB1 25862 228 8.21 17 Mitochondrion NA 0 PE1 NX_Q9NPB3 24482 220 4.6 11 Perinuclear region;Cell membrane;Golgi apparatus Deafness, autosomal recessive, 93 0 PE1 NX_Q9NPB6 37388 346 9.29 16 Ruffle;Cytosol;Cytoplasm;Cell membrane;Centrosome;Centriolar satellite;Cytoskeleton;Cell junction;Tight junction NA 0 PE1 NX_Q9NPB8 76035 672 5.34 20 Nucleoplasm;Cytosol NA 0 PE1 NX_Q9NPB9 39914 350 8.8 3 Mitochondrion;Cytoplasmic vesicle;Recycling endosome;Cell membrane;Early endosome NA 7 PE1 NX_Q9NPC1 41525 389 11 14 Nucleoplasm;Cell membrane NA 7 PE1 NX_Q9NPC2 42264 374 8.85 8 Cell membrane Birk-Barel mental retardation dysmorphism syndrome 4 PE1 NX_Q9NPC3 31544 277 8.59 14 Nucleus;Chromosome NA 0 PE1 NX_Q9NPC4 40499 353 9.16 22 Mitochondrion;Golgi apparatus membrane NA 1 PE1 NX_Q9NPC6 29898 264 7.86 4 Cytosol;Nucleus;Z line Cardiomyopathy, familial hypertrophic 16 0 PE1 NX_Q9NPC7 68682 610 8.56 3 Nucleus NA 0 PE1 NX_Q9NPC8 32286 291 9.14 2 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_Q9NPD3 26383 245 6.07 8 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_Q9NPD5 77403 702 9.01 12 Basolateral cell membrane;Cell membrane Hyperbilirubinemia, Rotor type 12 PE1 NX_Q9NPD7 15333 142 6.54 6 Synapse;Cell membrane NA 0 PE1 NX_Q9NPD8 22521 197 7.78 1 Nucleolus;Nucleus Fanconi anemia complementation group T 0 PE1 NX_Q9NPE2 32408 291 9.16 15 Cytoplasm;Nucleus;Mitochondrion membrane;Secreted NA 0 PE1 NX_Q9NPE3 7706 64 10.01 15 Cajal body;Nucleolus;Nucleus Dyskeratosis congenita, autosomal recessive, 1 0 PE1 NX_Q9NPE6 48165 437 6.65 20 Cytoskeleton;Flagellum axoneme;Nucleus inner membrane;Nucleus envelope;Membrane NA 2 PE1 NX_Q9NPF0 28991 282 4.61 19 Cytosol;Cell membrane;Endoplasmic reticulum Methylmalonic aciduria, transient, due to transcobalamin receptor defect 1 PE1 NX_Q9NPF2 41555 352 9.04 12 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q9NPF4 36427 335 5.94 14 Nucleoplasm;Cytoplasm;Nucleus;Cell membrane Galloway-Mowat syndrome 3 0 PE1 NX_Q9NPF5 52993 467 9.51 1 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 NX_Q9NPF7 20730 189 6.02 12 Cytosol;Secreted NA 0 PE1 NX_Q9NPF8 44349 381 9.44 17 Cytoplasm;Cell membrane NA 0 PE1 NX_Q9NPG1 76263 666 7.94 8 Cell surface;Apical cell membrane;Cell membrane;Membrane NA 7 PE1 NX_Q9NPG2 16933 151 5.42 14 Mitochondrion;Cytoplasm;Perikaryon NA 0 PE1 NX_Q9NPG3 121520 1134 9.37 16 Nucleoplasm;PML body;Nucleus;Tight junction NA 0 PE1 NX_Q9NPG4 128995 1184 5.13 5 Cell junction;Cell membrane;Secreted Microcephaly, seizures, spasticity, and brain calcifications 1 PE1 NX_Q9NPG8 39787 344 7.01 7 Endoplasmic reticulum membrane;Nucleus NA 5 PE1 NX_Q9NPH0 48886 428 6.04 1 Mitochondrion NA 0 PE1 NX_Q9NPH2 61068 558 5.52 19 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9NPH3 65418 570 8.37 3 Cytosol;Cytoplasmic vesicle;Cell membrane;Secreted NA 1 PE1 NX_Q9NPH5 66932 578 8.96 11 Endoplasmic reticulum membrane;Focal adhesion;Nucleolus;Nucleus;Cell membrane NA 6 PE1 NX_Q9NPH6 19457 170 8.91 9 Secreted NA 0 PE1 NX_Q9NPH9 19843 171 10 12 Secreted NA 0 PE1 NX_Q9NPI0 19262 162 9.67 11 Cytoskeleton;Vacuole membrane;Cilium Joubert syndrome 16 4 PE1 NX_Q9NPI1 74139 651 6 16 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q9NPI5 26046 230 5.77 19 Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 NX_Q9NPI6 63278 582 5.84 3 Cytosol;P-body;Nucleus NA 0 PE1 NX_Q9NPI7 30980 259 9.35 2 Cytosol;Nucleolus NA 0 PE1 NX_Q9NPI8 42254 374 9.11 11 Nucleus Fanconi anemia complementation group F 0 PE1 NX_Q9NPI9 47949 418 7.98 17 Cytoplasmic vesicle;Basolateral cell membrane;Membrane NA 2 PE1 NX_Q9NPJ1 62342 570 6.67 20 Cytosol;Cytoplasm;Nucleus;Centrosome McKusick-Kaufman syndrome;Bardet-Biedl syndrome 6 0 PE1 NX_Q9NPJ3 14960 140 9.23 6 Cytosol;Mitochondrion;Spindle;Nucleus;Cell junction NA 0 PE1 NX_Q9NPJ4 15591 139 10.4 1 Nucleoplasm;P-body;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9NPJ6 29745 270 5.02 13 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NPJ8 16228 142 5.24 X Nucleoplasm;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q9NPL8 32178 285 8.65 3 Mitochondrion;Nucleus;Mitochondrion membrane NA 4 PE1 NX_Q9NPP4 116159 1024 6.32 2 Cytosol;Cytoplasm Familial cold autoinflammatory syndrome 4;Autoinflammation with infantile enterocolitis 0 PE1 NX_Q9NPQ8 59710 531 5.2 11 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9NPR2 92193 832 6.51 15 Membrane NA 1 PE1 NX_Q9NPR9 60633 543 8.88 19 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 7 PE1 NX_Q9NPU4 8830 83 3.8 14 Membrane NA 1 PE2 NX_Q9NPY3 68560 652 5.27 20 Cytoplasmic vesicle;Golgi apparatus;Cell membrane;Membrane NA 1 PE1 NX_Q9NPZ5 36919 323 10.63 6 Golgi apparatus membrane NA 1 PE1 NX_Q9NQ03 32584 307 9.39 20 Nucleoplasm;Nucleus NA 0 PE2 NX_Q9NQ11 128794 1180 8.47 1 Lysosome membrane;Lysosome;Membrane Kufor-Rakeb syndrome;Spastic paraplegia 78, autosomal recessive 12 PE1 NX_Q9NQ25 37421 335 6.02 1 Cytoplasmic vesicle;Endoplasmic reticulum;Membrane NA 1 PE1 NX_Q9NQ29 43728 371 9.95 16 Mitochondrion;Nucleus NA 0 PE1 NX_Q9NQ30 20095 184 7.36 5 Secreted NA 0 PE1 NX_Q9NQ31 23114 210 8.31 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NQ32 51609 467 8.45 11 NA NA 0 PE2 NX_Q9NQ33 20797 180 8.71 11 Nucleus NA 0 PE2 NX_Q9NQ34 22531 198 8.35 11 Lysosome membrane;Early endosome membrane NA 1 PE1 NX_Q9NQ35 26975 241 8.82 11 Cytosol;Cytoplasm NA 0 PE1 NX_Q9NQ36 109957 999 6.21 11 Cell surface;Secreted NA 0 PE1 NX_Q9NQ38 120714 1064 8.45 5 Cytoplasmic vesicle;Secreted Netherton syndrome 0 PE1 NX_Q9NQ39 20120 176 10.13 20 NA NA 0 PE5 NX_Q9NQ40 50805 469 5.46 20 Cytoplasm;Apical cell membrane;Nucleus membrane;Cell membrane Fazio-Londe disease;Brown-Vialetto-Van Laere syndrome 1 11 PE1 NX_Q9NQ48 34592 299 5.3 3 Cytosol;Cytoplasm Bardet-Biedl syndrome 17 0 PE1 NX_Q9NQ50 24490 206 9.62 22 Mitochondrion;Nucleolus NA 0 PE1 NX_Q9NQ55 53194 473 10.13 19 Nucleolus NA 0 PE1 NX_Q9NQ60 32840 294 4.89 9 Acrosome membrane;Acrosome outer membrane;Acrosome inner membrane NA 1 PE1 NX_Q9NQ66 138567 1216 5.9 20 Cytoplasm;Cell membrane;Nucleus membrane Epileptic encephalopathy, early infantile, 12 0 PE1 NX_Q9NQ69 43976 397 9 1 Nucleus NA 0 PE1 NX_Q9NQ75 87144 786 6.66 20 Focal adhesion;Cytoskeleton NA 0 PE1 NX_Q9NQ76 58419 525 8.62 4 Extracellular matrix NA 0 PE1 NX_Q9NQ79 71421 661 4.95 10 Extracellular matrix NA 0 PE1 NX_Q9NQ84 48193 441 8.72 17 Cytosol;Cytoplasmic vesicle membrane;Nucleus;Cell membrane;Microtubule organizing center NA 7 PE1 NX_Q9NQ86 83013 728 5.77 5 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Acrosome Anencephaly 0 PE1 NX_Q9NQ87 35087 328 10.69 1 Mitochondrion;Cytosol;Nucleus NA 0 PE1 NX_Q9NQ88 30063 270 7.6 12 Cytosol;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q9NQ89 63801 552 5.94 12 Cytoplasm;Nucleus NA 0 PE1 NX_Q9NQ90 113969 1003 6.12 12 Nucleoplasm;Cell membrane NA 8 PE1 NX_Q9NQ92 20066 184 4.06 17 Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q9NQ94 65202 594 8.6 10 Nucleoplasm;Cytoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q9NQA3 47990 447 5.48 X Early endosome membrane;Recycling endosome membrane NA 0 PE1 NX_Q9NQA5 82551 729 6.01 7 Apical cell membrane NA 6 PE1 NX_Q9NQB0 67919 619 8.73 10 Nucleoplasm;PML body;Nucleus Diabetes mellitus, non-insulin-dependent 0 PE1 NX_Q9NQC1 87466 790 5.15 5 Nucleoplasm NA 0 PE1 NX_Q9NQC3 129931 1192 4.43 2 Endoplasmic reticulum membrane;Endoplasmic reticulum;Cell membrane;Nucleus membrane NA 2 PE1 NX_Q9NQC7 107316 956 5.42 16 Nucleoplasm;Cytoplasm;Cell membrane;Centrosome;Perinuclear region;Spindle;Microtubule organizing center;Cytoskeleton;Cilium basal body Cylindromatosis, familial;Brooke-Spiegler syndrome;Multiple familial trichoepithelioma 1 0 PE1 NX_Q9NQC8 34286 304 4.37 11 Cytoplasm;Cytoskeleton;Cilium;Cilium basal body NA 0 PE1 NX_Q9NQE7 55049 514 8.28 6 Cytoplasmic vesicle NA 0 PE2 NX_Q9NQE9 20361 182 6.12 6 Cytosol;Cytoplasm;Mitochondrion;Nucleolus;Nucleus NA 0 PE1 NX_Q9NQF3 22471 203 6.64 22 NA NA 0 PE2 NX_Q9NQG1 9467 85 9.21 20 Mitochondrion;Nucleus;Membrane NA 1 PE1 NX_Q9NQG5 36900 326 5.73 20 Cytosol;Nucleoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q9NQG6 51293 463 7.55 22 Mitochondrion;Cytoskeleton;Mitochondrion outer membrane NA 1 PE1 NX_Q9NQG7 76919 708 5.26 22 Centrosome Hermansky-Pudlak syndrome 4 0 PE1 NX_Q9NQH7 57034 507 6.37 22 Mitochondrion;Cytoplasm Nephronophthisis-like nephropathy 1 0 PE1 NX_Q9NQI0 79308 724 5.62 5 Cytoplasm;Perinuclear region NA 0 PE1 NX_Q9NQL2 45588 400 4.76 6 Nucleoplasm;Cytoplasm;Nucleus;Centrosome;Lysosome NA 0 PE1 NX_Q9NQL9 51199 472 7 9 Nucleus NA 0 PE1 NX_Q9NQM4 24069 214 3.99 X Cytoplasm Ciliary dyskinesia, primary, 36, X-linked 0 PE1 NX_Q9NQN1 35172 319 8.37 9 Cell membrane NA 7 PE2 NX_Q9NQP4 15314 134 4.42 20 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 NX_Q9NQQ7 40432 365 8.31 20 Nucleoplasm;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Golgi apparatus;Membrane NA 8 PE1 NX_Q9NQR1 42890 393 9.69 12 Cytosol;Nucleus;Chromosome NA 0 PE1 NX_Q9NQR4 30608 276 6.83 3 Cytosol;Cytoplasm;Centrosome NA 0 PE1 NX_Q9NQR7 79739 707 10.74 14 NA NA 0 PE1 NX_Q9NQR9 40580 355 8.64 2 Endoplasmic reticulum membrane NA 9 PE1 NX_Q9NQS1 38506 362 4.9 15 Cytoskeleton;Centrosome;Cell membrane;Endomembrane system NA 0 PE1 NX_Q9NQS3 61002 549 5.79 3 Postsynaptic cell membrane;Cell membrane;Microtubule organizing center NA 1 PE1 NX_Q9NQS5 43705 396 9.63 12 Cell membrane NA 7 PE1 NX_Q9NQS7 105429 918 9.46 11 Kinetochore;Centromere;Spindle;Nucleus;Midbody NA 0 PE1 NX_Q9NQT4 25249 235 7.54 19 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9NQT5 29572 275 8.39 9 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus Pontocerebellar hypoplasia 1B 0 PE1 NX_Q9NQT6 56624 498 7.83 7 Cytoskeleton NA 0 PE1 NX_Q9NQT8 202789 1826 5.64 8 Axon;Cytoskeleton NA 0 PE1 NX_Q9NQU5 74869 681 9.57 15 Cytoplasm;Nucleolus;Nucleus;Cell junction NA 0 PE1 NX_Q9NQV5 57863 511 5.85 11 Cytoplasm;Nucleus NA 0 PE1 NX_Q9NQV6 130136 1147 6.27 11 Cytoplasmic vesicle;Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9NQV7 103376 894 9.36 5 Nucleus;Chromosome NA 0 PE1 NX_Q9NQV8 71663 689 8.05 4 Nucleus Epilepsy, progressive myoclonic 10 0 PE1 NX_Q9NQW1 128697 1179 8.62 10 Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Nucleolus;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9NQW5 55777 492 7.99 16 Nucleus speckle;Nucleus;Chromosome NA 0 PE1 NX_Q9NQW6 124199 1124 8.38 7 Nucleoplasm;Cell cortex;Nucleus;Bleb;Cytoskeleton;Midbody Focal segmental glomerulosclerosis 8 0 PE1 NX_Q9NQW7 69918 623 5.42 10 Cytosol;Cytoplasm NA 0 PE1 NX_Q9NQW8 92167 809 8.06 8 Membrane Stargardt disease 1;Achromatopsia 3 6 PE1 NX_Q9NQX0 64452 595 7.93 5 Nucleoplasm;Nucleus Patent ductus arteriosus 3 0 PE1 NX_Q9NQX1 73090 630 9.08 4 Nucleolus;Nucleus Brittle cornea syndrome 2 0 PE1 NX_Q9NQX3 79748 736 5.25 14 Synapse;Cytosol;Cell membrane;Dendrite;Postsynaptic cell membrane;Postsynaptic density;Cytoskeleton Molybdenum cofactor deficiency, complementation group C 0 PE1 NX_Q9NQX4 202810 1742 7.69 15 Cytosol;Nucleus NA 0 PE1 NX_Q9NQX5 34516 325 6.55 9 Cytosol;Nucleus;Membrane NA 1 PE1 NX_Q9NQX6 53739 463 9.16 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NQX7 30224 267 8.16 2 Lysosome membrane;Golgi apparatus;Cell membrane NA 1 PE1 NX_Q9NQY0 29665 253 6.94 8 Cytoskeleton NA 0 PE1 NX_Q9NQZ2 54558 479 5.5 4 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 NX_Q9NQZ3 82764 744 9.36 Y Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 0 PE1 NX_Q9NQZ5 43113 370 9.03 2 Mitochondrion NA 0 PE1 NX_Q9NQZ6 26244 224 6.68 X Cytoplasmic vesicle;Cytoplasm;Cytoskeleton;Postsynaptic cell membrane;Nucleus Wieacker-Wolf syndrome 0 PE1 NX_Q9NQZ7 68960 604 7.29 10 Nucleoplasm;Cytoplasmic vesicle membrane NA 2 PE1 NX_Q9NQZ8 54498 489 9 19 Nucleolus;Nucleus NA 0 PE1 NX_Q9NR00 12337 106 10.14 8 Nucleus speckle;Nucleolus;Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Nucleus NA 0 PE1 NX_Q9NR09 530255 4857 5.67 2 Endosome;trans-Golgi network membrane;Golgi apparatus;Midbody ring;Spindle pole;Cytoplasmic vesicle;Spindle;Centrosome NA 0 PE1 NX_Q9NR11 54814 478 9.13 19 Cytoplasmic vesicle;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9NR12 49845 457 8.76 5 Cytoplasm;Cytoskeleton;Focal adhesion NA 0 PE1 NX_Q9NR16 159239 1453 5.44 12 Nucleoplasm;Cytosol;Centrosome;Cell membrane;Secreted NA 1 PE1 NX_Q9NR19 78580 701 6.02 20 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle;Cytosol NA 0 PE1 NX_Q9NR20 59608 520 9.03 12 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_Q9NR21 39597 338 6.86 12 Nuclear pore complex NA 0 PE1 NX_Q9NR22 45291 394 6.47 12 Cell membrane NA 0 PE1 NX_Q9NR23 41387 364 8.2 12 Cytoplasm;Secreted Microphthalmia, isolated, 7;Microphthalmia, isolated, with coloboma, 6;Klippel-Feil syndrome 3, autosomal dominant 0 PE1 NX_Q9NR28 27131 239 5.68 12 Mitochondrion Deafness, autosomal dominant, 64 0 PE1 NX_Q9NR30 87344 783 9.32 10 Nucleoplasm;Cytosol;Mitochondrion;Nucleolus;Nucleus NA 0 PE1 NX_Q9NR31 22367 198 6.22 10 Endoplasmic reticulum;Golgi apparatus NA 0 PE1 NX_Q9NR33 12209 117 4.87 2 Cytosol;Nucleus NA 0 PE1 NX_Q9NR34 70911 630 7.01 1 Cytoplasmic vesicle;Nucleus;Golgi apparatus membrane NA 1 PE1 NX_Q9NR45 40308 359 6.29 9 Nucleoplasm Spondyloepimetaphyseal dysplasia, Genevieve type 0 PE1 NX_Q9NR46 43974 395 5.72 9 Nucleoplasm;Cytosol;Cytoplasm NA 0 PE1 NX_Q9NR48 332790 2969 9.46 1 Nucleoplasm;Tight junction;Nucleus;Golgi apparatus;Chromosome Mental retardation, autosomal dominant 52 0 PE1 NX_Q9NR50 50240 452 6.08 1 Cytosol;Cytoplasm;Cytoplasmic vesicle Leukodystrophy with vanishing white matter 0 PE1 NX_Q9NR55 14468 127 9.12 1 Nucleus NA 0 PE1 NX_Q9NR56 41817 388 9.16 3 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Cytoplasmic granule Dystrophia myotonica 1;Corneal dystrophy, Fuchs endothelial, 3 0 PE1 NX_Q9NR61 74605 685 6.51 15 Cell membrane Adams-Oliver syndrome 6 1 PE1 NX_Q9NR63 57513 512 8.68 2 Endoplasmic reticulum membrane;Cytosol;Microsome membrane Radiohumeral fusions with other skeletal and craniofacial anomalies 0 PE1 NX_Q9NR64 82680 748 5.95 13 Cytoskeleton NA 0 PE2 NX_Q9NR71 85516 780 6.77 10 Cell membrane NA 1 PE1 NX_Q9NR77 22253 195 10.58 12 Peroxisome membrane NA 4 PE1 NX_Q9NR80 79067 690 6.55 2 Cytoplasm;Ruffle membrane NA 0 PE1 NX_Q9NR81 59783 526 6.03 3 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9NR82 102179 932 9.55 6 Cytoplasmic vesicle;Cell membrane Mental retardation, autosomal dominant 46 6 PE1 NX_Q9NR83 41267 387 8.57 20 Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 NX_Q9NR90 54989 486 8.9 Y Cytoplasm;Nucleus Spermatogenic failure Y-linked 2 0 PE1 NX_Q9NR96 115860 1032 8.55 3 Endoplasmic reticulum membrane;Endosome;Phagosome;Lysosome NA 1 PE1 NX_Q9NR97 119828 1041 6.2 X Membrane NA 1 PE1 NX_Q9NR99 312150 2828 8.57 X Mitochondrion;Secreted Lung cancer 0 PE1 NX_Q9NRA0 69217 654 6.47 19 Cytoplasmic vesicle;Cytoplasm;Lysosome membrane;Membrane NA 0 PE1 NX_Q9NRA1 39029 345 5.77 4 Cytosol;Cytoplasmic granule;Nucleus;Cell membrane;Secreted NA 0 PE1 NX_Q9NRA2 54640 495 8.51 6 Cytosol;Synaptic vesicle membrane;Lysosome membrane;Cell membrane Infantile sialic acid storage disorder;Salla disease 12 PE1 NX_Q9NRA8 108201 985 8.45 22 Cytoplasmic vesicle;PML body;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q9NRB3 48414 414 9.37 7 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q9NRC1 67166 585 6.82 7 Cytosol;Nucleoplasm;Membrane NA 3 PE1 NX_Q9NRC6 416750 3674 6.21 15 Cytoskeleton NA 0 PE1 NX_Q9NRC8 44898 400 9.8 17 Cytoplasmic vesicle;Cytoplasm;Nucleolus NA 0 PE1 NX_Q9NRC9 14332 128 4.87 20 Secreted NA 0 PE1 NX_Q9NRD0 37068 319 7.62 4 Nucleoplasm;Cytosol NA 0 PE2 NX_Q9NRD1 33933 293 5.73 1 Cytoplasm NA 0 PE1 NX_Q9NRD5 46600 415 5.17 22 Synaptosome;Cytosol;Perinuclear region;Membrane;Mitochondrion;Postsynaptic density;Cytoskeleton NA 0 PE1 NX_Q9NRD8 175364 1548 8.02 15 Apical cell membrane;Cell junction Thyroid dyshormonogenesis 6 7 PE1 NX_Q9NRD9 177235 1551 8.12 15 Apical cell membrane NA 7 PE1 NX_Q9NRE1 29708 261 5.96 11 Extracellular matrix NA 0 PE2 NX_Q9NRE2 115005 1034 8 20 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9NRF2 79366 756 5.26 16 Cytoplasmic vesicle;Cytoplasm;Nucleus;Membrane NA 0 PE1 NX_Q9NRF8 65678 586 6.46 X Cytosol;Nucleoplasm NA 0 PE1 NX_Q9NRF9 16860 147 4.68 9 Nucleolus;Nucleus NA 0 PE1 NX_Q9NRG0 14711 131 4.99 8 Nucleus NA 0 PE1 NX_Q9NRG1 25674 225 5.76 10 Nucleoplasm;Cytosol;Golgi apparatus NA 0 PE1 NX_Q9NRG4 49688 433 6.27 1 Cytosol;Mitochondrion;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9NRG7 34748 319 9.79 14 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9NRG9 59574 546 7.26 12 Cytosol;Nuclear pore complex;Centrosome;Nucleus membrane Achalasia-addisonianism-alacrima syndrome 0 PE1 NX_Q9NRH1 25299 226 5.35 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9NRH2 84276 765 6.62 3 Cytoplasmic vesicle;Nucleus;Cell junction;Cell membrane NA 0 PE1 NX_Q9NRH3 51092 451 5.5 17 Centrosome;Microtubule organizing center NA 0 PE1 NX_Q9NRI5 93611 854 5.96 1 Mitochondrion;Cytoplasm;Cytoskeleton;Centrosome;Postsynaptic density Schizophrenia 9 0 PE1 NX_Q9NRI6 3432 33 3.92 17 Secreted NA 0 PE5 NX_Q9NRI7 2179 21 7.74 17 NA NA 0 PE5 NX_Q9NRJ1 11219 99 8.59 8 Endoplasmic reticulum membrane;Microsome membrane;Cytoplasm NA 0 PE1 NX_Q9NRJ2 17657 163 10.93 9 NA NA 0 PE5 NX_Q9NRJ3 14280 127 10.23 5 Secreted NA 0 PE1 NX_Q9NRJ4 169000 1543 7.49 6 Cytoplasm NA 0 PE1 NX_Q9NRJ5 71681 636 6.02 7 Nucleus NA 0 PE1 NX_Q9NRJ7 84983 776 5 5 Cytoplasmic vesicle;Cell membrane;Membrane NA 1 PE1 NX_Q9NRK6 79148 738 9.87 1 Mitochondrion inner membrane NA 5 PE1 NX_Q9NRL2 178702 1556 6.2 14 Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q9NRL3 80596 753 5.21 19 Cytosol;Cytoplasm;Dendritic spine;Membrane NA 0 PE1 NX_Q9NRM0 58702 540 9.09 4 Apical cell membrane;Basolateral cell membrane Hypouricemia renal 2 12 PE1 NX_Q9NRM1 128785 1142 6.36 4 Extracellular matrix Amelogenesis imperfecta 1C;Amelogenesis imperfecta 1B 0 PE1 NX_Q9NRM2 52788 450 5.19 7 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9NRM6 55885 502 8.44 3 Cell membrane;Secreted NA 1 PE1 NX_Q9NRM7 120136 1088 8.44 13 Cytosol;Cytoplasm;Microtubule organizing center;Nucleus;Centrosome;Spindle pole NA 0 PE1 NX_Q9NRN5 46010 406 6.17 1 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q9NRN7 35776 309 6.35 11 Cytoplasm NA 0 PE1 NX_Q9NRN9 23719 209 6.23 2 Cytosol;Nucleolus NA 0 PE1 NX_Q9NRP0 16829 149 9.23 4 Nucleoplasm;Endoplasmic reticulum;Membrane NA 3 PE1 NX_Q9NRP2 9460 79 7.73 16 Mitochondrion NA 0 PE1 NX_Q9NRP4 14652 125 9.13 7 Mitochondrion;Mitochondrion matrix;Cytoskeleton NA 0 PE1 NX_Q9NRP7 143995 1315 5.57 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9NRQ2 37005 329 5.53 3 Nucleoplasm;Nucleus;Membrane NA 1 PE1 NX_Q9NRQ5 6738 59 10.28 11 Membrane NA 1 PE1 NX_Q9NRR1 15577 136 8.81 4 Nucleus membrane;Endoplasmic reticulum;Secreted NA 0 PE1 NX_Q9NRR2 33815 321 6.69 16 Membrane NA 1 PE2 NX_Q9NRR3 9223 84 8.61 5 Cytoskeleton;Phagocytic cup;Cell membrane NA 0 PE1 NX_Q9NRR4 159316 1374 8 5 Nucleolus;Nucleus NA 0 PE1 NX_Q9NRR5 63853 601 5.14 1 Cytoplasm;Perinuclear region;Nucleus;Autophagosome;Endoplasmic reticulum NA 0 PE1 NX_Q9NRR6 70205 644 9.16 9 Cytoplasm;Ruffle;Cell membrane;Cilium axoneme;Golgi stack membrane Joubert syndrome 1;Mental retardation, truncal obesity, retinal dystrophy, and micropenis 0 PE1 NX_Q9NRR8 8925 79 10.03 1 Cytoskeleton;Cell membrane NA 0 PE1 NX_Q9NRS4 48246 437 5.2 11 Nucleoplasm;Cytosol;Membrane NA 1 PE1 NX_Q9NRS6 38291 342 5.09 11 Cytosol;Cytoplasm;Cytoplasmic vesicle membrane;Nucleolus;Membrane NA 0 PE1 NX_Q9NRU3 104351 951 5.91 10 Cytosol;Cell membrane NA 4 PE1 NX_Q9NRV9 21097 189 5.71 12 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_Q9NRW1 23462 208 5.41 3 Cytoplasmic vesicle;Endoplasmic reticulum-Golgi intermediate compartment;Golgi apparatus membrane NA 0 PE1 NX_Q9NRW3 22826 190 7.52 22 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9NRW4 20910 184 8.28 6 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9NRW7 65077 570 8.41 1 Endosome membrane;Cytoskeleton;Golgi apparatus membrane Neutropenia, severe congenital 5, autosomal recessive 0 PE1 NX_Q9NRX1 27924 252 9.75 2 Nucleolus;Nucleus NA 0 PE1 NX_Q9NRX2 20050 175 10.12 11 Mitochondrion;Cytoplasmic vesicle;Nucleolus;Golgi apparatus NA 0 PE1 NX_Q9NRX3 9966 87 9.94 12 NA NA 0 PE1 NX_Q9NRX4 13833 125 5.65 9 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9NRX5 50495 453 5.59 6 Endoplasmic reticulum membrane;Cytosol NA 10 PE1 NX_Q9NRX6 8294 74 9.67 1 Golgi apparatus membrane NA 1 PE1 NX_Q9NRY2 11425 104 9.22 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NRY4 170514 1499 6.2 19 Cytoplasm;Nucleus;Cell membrane;Cilium basal body NA 0 PE1 NX_Q9NRY5 55468 505 4.85 5 Cytoplasmic vesicle NA 0 PE1 NX_Q9NRY6 31648 295 6.22 17 Mitochondrion;Mitochondrion membrane NA 1 PE1 NX_Q9NRY7 33504 297 6.69 3 Nucleus;Membrane NA 1 PE1 NX_Q9NRZ5 44021 378 8.95 6 Cytoplasmic vesicle;Nucleolus;Golgi apparatus;Membrane NA 4 PE1 NX_Q9NRZ7 43381 376 8.96 21 Endoplasmic reticulum membrane;Nucleus envelope NA 2 PE1 NX_Q9NRZ9 97074 838 8.07 10 Cytoplasmic vesicle;Nucleus;Golgi apparatus Immunodeficiency-centromeric instability-facial anomalies syndrome 4 0 PE1 NX_Q9NS00 42203 363 6.17 7 Cytosol;Nucleus;Membrane NA 1 PE1 NX_Q9NS15 139359 1303 5.71 11 Nucleoplasm;Extracellular matrix;Secreted Dental anomalies and short stature;Geleophysic dysplasia 3 0 PE1 NX_Q9NS18 18052 164 9.25 1 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NS23 39219 344 9.2 3 Spindle;Cytoskeleton;Nucleus;Centrosome;Spindle pole NA 0 PE1 NX_Q9NS25 11840 103 5.92 X Cytoplasm;Nucleus NA 0 PE1 NX_Q9NS26 11038 97 5.05 X Cytoplasm;Nucleus NA 0 PE1 NX_Q9NS28 27582 235 7.73 1 Cytoplasm;Golgi apparatus NA 0 PE1 NX_Q9NS37 37134 354 5.12 11 Mitochondrion;Nucleus NA 0 PE1 NX_Q9NS39 80621 739 10.19 10 Nucleus NA 0 PE1 NX_Q9NS40 135000 1196 7.57 2 Membrane NA 6 PE1 NX_Q9NS56 119198 1045 9.56 9 Nucleoplasm;PML body;Nucleus Retinitis pigmentosa 31 0 PE1 NX_Q9NS61 30907 270 4.97 10 Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9NS62 94584 852 8.33 13 Cytosol;Secreted;Membrane NA 1 PE1 NX_Q9NS64 11774 109 4.79 2 Cytoplasm;Membrane NA 1 PE1 NX_Q9NS66 41481 373 9.36 X Cytosol;Cell membrane NA 7 PE2 NX_Q9NS67 39818 375 9.3 3 Nucleoplasm;Cytosol;Cytoskeleton;Cell membrane NA 7 PE2 NX_Q9NS68 46015 423 5.28 13 Nucleoplasm;Mitochondrion;Membrane NA 1 PE1 NX_Q9NS69 15522 142 4.27 22 Mitochondrion;Mitochondrion outer membrane NA 1 PE1 NX_Q9NS71 21999 199 5.9 2 Secreted NA 0 PE1 NX_Q9NS73 39281 344 6.78 14 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9NS75 39635 346 9.63 13 Cell membrane NA 7 PE1 NX_Q9NS82 56798 523 8.51 19 Nucleolus;Nucleus;Membrane NA 9 PE1 NX_Q9NS84 54266 486 9.72 X Golgi apparatus membrane NA 1 PE1 NX_Q9NS85 37563 328 8.22 17 Cytoplasmic vesicle NA 0 PE1 NX_Q9NS86 50854 450 7.18 7 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9NS87 160160 1388 5.75 3 Cytoplasm;Spindle NA 0 PE1 NX_Q9NS91 56223 495 7.51 3 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q9NS93 64166 570 6.56 12 Cytosol;Nucleus;Cell membrane NA 7 PE1 NX_Q9NS98 86701 782 7.97 3 Secreted NA 0 PE1 NX_Q9NSA0 59972 550 8.96 11 Cell membrane NA 12 PE1 NX_Q9NSA1 22300 209 5.01 19 Secreted NA 0 PE1 NX_Q9NSA2 71330 647 8.79 X Dendrite;Nucleus;Membrane NA 6 PE1 NX_Q9NSA3 9170 81 5.33 1 Mitochondrion;Cytoplasm;Nucleus;Cell junction;Cell membrane NA 0 PE1 NX_Q9NSB2 64842 600 7.74 12 NA NA 0 PE1 NX_Q9NSB4 56653 513 6.4 12 NA NA 0 PE1 NX_Q9NSB8 40627 354 6.03 15 Cytoplasm;Synapse;Stereocilium;Postsynaptic density Deafness, autosomal dominant, 68 0 PE1 NX_Q9NSC2 140405 1324 6.57 16 Cytosol;Nucleus Townes-Brocks syndrome 1 0 PE1 NX_Q9NSC5 39836 361 5.39 19 Cytosol;Cytoplasm;Synapse;Cell membrane;Postsynaptic density NA 0 PE1 NX_Q9NSC7 68564 600 9.93 17 Golgi apparatus membrane NA 1 PE1 NX_Q9NSD4 48443 429 9.33 X Nucleolus;Nucleus NA 0 PE1 NX_Q9NSD5 68009 602 7.36 12 Cytosol;Mitochondrion;Nucleolus;Nucleus;Cell membrane NA 12 PE1 NX_Q9NSD7 51124 469 9.07 5 Cell membrane NA 7 PE1 NX_Q9NSD9 66116 589 6.39 2 Cytosol;Cytoplasm;Nucleus Neurodevelopmental disorder with brain, liver, and lung abnormalities 0 PE1 NX_Q9NSE2 28663 258 6.52 3 Cytoskeleton NA 0 PE1 NX_Q9NSE4 113792 1012 6.78 1 Mitochondrion matrix;Mitochondrion Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 0 PE1 NX_Q9NSG2 96554 853 5.64 1 Mitochondrion NA 0 PE1 NX_Q9NSI2 25456 230 11.07 21 Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_Q9NSI5 44593 407 8.14 21 Apical cell membrane;Tight junction NA 1 PE2 NX_Q9NSI6 262936 2320 8.73 21 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9NSI8 41708 373 5.28 21 Cytoplasm;Nucleus;Ruffle;Cell membrane NA 0 PE1 NX_Q9NSJ1 49689 428 8.9 21 Nucleus NA 0 PE5 NX_Q9NSK0 68640 619 5.82 6 Cytosol;Mitochondrion;Cytoskeleton NA 0 PE1 NX_Q9NSK7 16286 152 6.83 19 Mitochondrion;Cytosol;Mitochondrion membrane;Endoplasmic reticulum Spastic paraplegia 43, autosomal recessive;Neurodegeneration with brain iron accumulation 4 1 PE1 NX_Q9NSN8 57969 517 6.24 8 Cytoskeleton;Nucleus NA 0 PE1 NX_Q9NSP4 19737 180 6.7 22 Cytosol;Kinetochore;Nucleus;Cytoplasm NA 0 PE1 NX_Q9NSQ0 12575 103 9.73 22 NA NA 0 PE5 NX_Q9NST1 52865 481 6.27 22 Cytosol;Mitochondrion;Lipid droplet;Nucleolus;Membrane Non-alcoholic fatty liver disease 1 1 PE1 NX_Q9NSU2 33212 314 8.12 3 Cytosol;Endoplasmic reticulum membrane;Nucleus Systemic lupus erythematosus;Vasculopathy, retinal, with cerebral leukodystrophy;Aicardi-Goutieres syndrome 1;Chilblain lupus 1 0 PE1 NX_Q9NSV4 136926 1193 6.64 13 Cytoplasm;Cytoskeleton;Nucleus;Cell membrane Auditory neuropathy, autosomal dominant, 1 0 PE1 NX_Q9NSY0 57803 501 6.05 8 Cytosol;Cytoplasm NA 0 PE1 NX_Q9NSY1 129172 1161 6.05 4 Nucleus speckle;Nucleus NA 0 PE1 NX_Q9NSY2 23794 213 6.22 15 Cytosol;Cytoplasmic vesicle NA 0 PE1 NX_Q9NT22 82647 766 7.84 20 Extracellular matrix NA 0 PE1 NX_Q9NT62 35864 314 4.66 3 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9NT68 307787 2774 6.23 5 Synaptosome;Synapse;Nucleolus;Dendritic spine;Golgi apparatus;PML body;Endoplasmic reticulum;Postsynaptic cell membrane;Cell membrane;Filopodium;Growth cone NA 1 PE1 NX_Q9NT99 76434 713 6.8 19 Presynaptic cell membrane;Membrane NA 1 PE1 NX_Q9NTG1 255449 2253 9.26 22 Membrane NA 11 PE2 NX_Q9NTG7 43573 399 8.98 11 Mitochondrion matrix NA 0 PE1 NX_Q9NTI2 133599 1188 8.41 13 Endosome;Photoreceptor outer segment;Golgi apparatus;Nucleoplasm;Cell membrane;Membrane Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 10 PE1 NX_Q9NTI5 164667 1447 8.67 13 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NTI7 32759 297 8.92 1 Nucleus NA 0 PE1 NX_Q9NTJ3 147182 1288 6.37 3 Cytosol;Nucleus speckle;Nucleus;Chromosome;Cytoplasm NA 0 PE1 NX_Q9NTJ4 115835 1040 6.1 15 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q9NTJ5 66967 587 6.66 3 Nucleoplasm;Endoplasmic reticulum membrane;Golgi apparatus NA 3 PE1 NX_Q9NTK1 23406 212 10.68 10 Cytoplasmic vesicle;Mitochondrion;Cytoplasm;Nucleus;Peroxisome NA 0 PE1 NX_Q9NTK5 44744 396 7.64 2 Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9NTM9 29341 273 8.47 10 Nucleoplasm;Cytosol;Nucleus;Cytoplasm NA 0 PE1 NX_Q9NTN3 39240 355 9.06 1 Endoplasmic reticulum membrane;Cytoplasm Schneckenbecken dysplasia 8 PE1 NX_Q9NTN9 91497 838 8.1 10 Cytoplasmic vesicle;Lipid droplet;Cell membrane NA 1 PE1 NX_Q9NTQ9 30419 266 8.4 1 Gap junction;Cell junction;Cell membrane Erythrokeratodermia variabilis et progressiva 2 4 PE1 NX_Q9NTU4 22839 200 5.8 11 Nucleoplasm;Cytoplasm;Flagellum membrane NA 0 PE1 NX_Q9NTU7 21808 201 8.85 20 Synapse;Midbody ring;Secreted NA 0 PE1 NX_Q9NTW7 72217 645 8.8 20 Nucleus NA 0 PE1 NX_Q9NTX5 33698 307 8.32 6 Cytoplasmic vesicle;Cytosol NA 0 PE1 NX_Q9NTX7 38950 359 5.17 6 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Cell membrane NA 0 PE1 NX_Q9NTX9 42052 383 9.76 20 Nucleoplasm NA 0 PE1 NX_Q9NTZ6 97395 932 8.74 20 Nucleoplasm;Nucleus Schizophrenia 19 0 PE1 NX_Q9NU02 86664 776 8.51 20 Cytosol;Nucleolus;Cell membrane NA 0 PE1 NX_Q9NU19 59081 505 6.94 6 Nucleoplasm;Cytosol NA 0 PE1 NX_Q9NU22 632820 5596 5.46 6 Nucleolus;Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Cytoskeleton NA 0 PE1 NX_Q9NU23 10449 88 10.46 6 Cytosol;Cytoplasm NA 0 PE1 NX_Q9NU39 43610 408 9.36 2 Nucleus NA 0 PE2 NX_Q9NU53 36840 330 4.81 6 Nucleolus;Cell membrane;Membrane NA 1 PE1 NX_Q9NU63 51919 452 9.34 6 Nucleus Transient neonatal diabetes mellitus 1 0 PE1 NX_Q9NUA8 138118 1239 6.11 1 Nucleus NA 0 PE1 NX_Q9NUB1 74857 689 6.66 20 Mitochondrion matrix NA 0 PE1 NX_Q9NUB4 17394 165 7.8 20 Membrane NA 1 PE2 NX_Q9NUC0 39348 356 6.27 1 Nucleoplasm NA 0 PE1 NX_Q9NUD5 43547 403 8.86 20 Cytoplasmic vesicle NA 0 PE1 NX_Q9NUD7 42859 363 8.81 20 Nucleus;Golgi apparatus NA 0 PE1 NX_Q9NUD9 55713 493 8.2 1 Endoplasmic reticulum membrane;Cytosol;Endoplasmic reticulum Hyperphosphatasia with mental retardation syndrome 1 10 PE1 NX_Q9NUE0 42031 388 9.33 1 Cytoskeleton;Membrane NA 4 PE1 NX_Q9NUG4 62179 571 5.62 20 Nucleoplasm NA 0 PE1 NX_Q9NUG6 15511 133 5.81 20 Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q9NUH8 12078 114 9.57 6 Membrane NA 4 PE1 NX_Q9NUI1 30778 292 9.38 16 Peroxisome NA 0 PE1 NX_Q9NUJ1 33933 306 8.81 3 Mitochondrion NA 0 PE1 NX_Q9NUJ3 57035 509 5.41 11 Cytosol NA 0 PE1 NX_Q9NUJ7 36668 323 6.11 X Cytosol;Cytoplasm NA 0 PE1 NX_Q9NUK0 38532 354 9.13 X Cytoplasmic vesicle;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9NUL3 62608 570 9.62 8 Nucleolus;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NUL5 33110 291 6.86 19 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q9NUL7 59581 540 10.43 16 Mitochondrion nucleoid;Nucleolus;Cytosol;Mitochondrion matrix;Nucleus;Mitochondrion NA 0 PE1 NX_Q9NUM3 32251 307 6.21 14 Endoplasmic reticulum;Membrane NA 8 PE1 NX_Q9NUM4 31127 274 6.52 7 Lysosome membrane;Late endosome membrane;Endosome;Lysosome;Membrane Ubiquitin-positive frontotemporal dementia;Leukodystrophy, hypomyelinating, 16;Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 1 PE1 NX_Q9NUN5 61389 540 7.89 6 Lysosome membrane Methylmalonic aciduria and homocystinuria, cblF type 9 PE1 NX_Q9NUN7 31552 267 8.87 11 Endoplasmic reticulum membrane;Golgi apparatus membrane NA 7 PE1 NX_Q9NUP1 23351 217 4.9 4 Cytoplasmic vesicle;Cytoplasm;Cytosol NA 0 PE1 NX_Q9NUP7 54247 481 8.36 1 Nucleoplasm;Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q9NUP9 21834 197 8.52 11 Synaptosome;Basolateral cell membrane;Cell membrane;Postsynaptic density;Cell junction;Tight junction NA 0 PE1 NX_Q9NUQ2 42072 364 9.18 8 Mitochondrion;Endoplasmic reticulum membrane;Nucleus envelope NA 3 PE1 NX_Q9NUQ3 60586 528 7.23 X Cytosol;Nucleus membrane NA 0 PE1 NX_Q9NUQ6 61729 558 9.67 2 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_Q9NUQ7 53261 469 6.52 4 Cytosol;Cytoplasm;Nucleus;Endoplasmic reticulum Spondyloepimetaphyseal dysplasia, Di Rocco type;Beukes familial hip dysplasia 0 PE1 NX_Q9NUQ8 79745 709 5.95 3 Cytosol;Nucleolus NA 0 PE1 NX_Q9NUQ9 36748 324 5.76 8 Cytosol;Nucleus;Membrane NA 0 PE1 NX_Q9NUR3 27551 256 6.97 20 Nucleoplasm;Golgi apparatus;Membrane NA 2 PE1 NX_Q9NUS5 22522 200 6.38 20 Cytosol;Nucleoplasm;Lysosome membrane;Late endosome membrane NA 0 PE1 NX_Q9NUT2 79989 735 9.21 7 Mitochondrion;Nucleus;Mitochondrion inner membrane NA 5 PE1 NX_Q9NUU6 42196 356 9.36 5 Cytosol;Nucleolus NA 0 PE1 NX_Q9NUU7 53975 478 6.2 16 Cytoplasm;Nuclear pore complex;Nucleus membrane NA 0 PE1 NX_Q9NUV7 62049 552 8.9 20 Endoplasmic reticulum membrane;Cytoskeleton NA 1 PE1 NX_Q9NUV9 37534 329 7.66 7 Cytosol NA 0 PE1 NX_Q9NUW8 68420 608 7.34 14 Cytoplasm;Nucleus;Cell membrane Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 0 PE1 NX_Q9NUX5 71442 634 6.26 7 Nucleus;Telomere Glioma 9;Melanoma, cutaneous malignant 10 0 PE1 NX_Q9NUY8 78322 699 5.23 3 Cytoplasmic vesicle;Golgi apparatus;trans-Golgi network Pontocerebellar hypoplasia 11 0 PE1 NX_Q9NUZ1 61795 547 8.78 2 Cytosol;Nucleolus NA 0 PE2 NX_Q9NV06 51402 445 9.3 8 Cytosol;Nucleolus;Nucleus;Centrosome;Cell junction NA 0 PE1 NX_Q9NV12 20419 185 7.62 7 Membrane NA 4 PE1 NX_Q9NV23 29931 265 5.81 10 Cytosol NA 0 PE1 NX_Q9NV29 14386 134 9.55 17 Perikaryon;Nucleoplasm;Endoplasmic reticulum;Perinuclear region;Cell membrane;Membrane NA 2 PE1 NX_Q9NV31 21850 184 9.54 15 Nucleolus;Nucleus NA 0 PE1 NX_Q9NV35 18609 164 5.75 13 Nucleoplasm NA 0 PE1 NX_Q9NV39 14718 138 12.42 22 NA NA 0 PE1 NX_Q9NV44 13706 126 7.06 21 NA NA 0 PE5 NX_Q9NV56 22417 204 5.57 20 Nucleus NA 0 PE1 NX_Q9NV58 90696 838 6.59 8 Centrosome;Membrane NA 2 PE1 NX_Q9NV64 55667 488 9.01 3 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 8 PE1 NX_Q9NV66 83702 732 6.42 7 NA NA 0 PE1 NX_Q9NV70 101982 894 6.17 4 Cytosol;Cytoplasm;Midbody ring;Cell membrane;Perinuclear region;Cytoskeleton NA 0 PE1 NX_Q9NV72 60903 531 9.41 19 Nucleoplasm;Nucleus;Microtubule organizing center NA 0 PE1 NX_Q9NV79 41072 361 5.8 20 Nucleoplasm;Cytoplasm;Mitochondrion NA 0 PE1 NX_Q9NV88 73814 658 5.9 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NV92 36390 336 4.99 13 Endosome membrane;Cytoplasmic vesicle;Golgi apparatus membrane;Multivesicular body membrane NA 3 PE1 NX_Q9NV96 40684 361 8.81 6 Apical cell membrane;Golgi apparatus;Cell membrane;Membrane;Mitochondrion;Secretory vesicle membrane NA 2 PE1 NX_Q9NVA1 34600 299 9.1 20 Cytoplasmic vesicle;Nucleoplasm;Cytoskeleton;Mitochondrion inner membrane;Cell membrane NA 0 PE1 NX_Q9NVA2 49398 429 6.36 4 Synapse;Cytoplasm;Cell membrane;Axon;Dendritic spine;Cytoskeleton NA 0 PE1 NX_Q9NVA4 50142 438 5.85 4 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 7 PE1 NX_Q9NVC3 49966 462 4.98 16 Cytosol;Nucleoplasm;Endosome;Cell membrane;Membrane NA 11 PE1 NX_Q9NVC6 72890 651 7.05 11 Nucleoplasm;Cytoplasmic vesicle;Nucleus Microcephaly, postnatal progressive, with seizures and brain atrophy 0 PE1 NX_Q9NVD3 50416 440 8.53 21 Nucleus speckle NA 0 PE1 NX_Q9NVD7 42244 372 5.69 11 Cytosol;Cytoskeleton;Focal adhesion;Z line;Cell membrane NA 0 PE1 NX_Q9NVE4 96402 849 8.74 11 NA NA 0 PE1 NX_Q9NVE5 140130 1235 5.46 2 Cytoplasmic vesicle NA 0 PE1 NX_Q9NVE7 85991 773 5.88 1 Cytosol;Cytoplasm NA 0 PE1 NX_Q9NVF7 41149 368 9.59 1 Kinetochore;Focal adhesion;Nucleus NA 0 PE1 NX_Q9NVF9 44781 386 6.94 1 NA NA 0 PE1 NX_Q9NVG8 46554 400 5.11 9 Cytoplasm;Nucleolus;Membrane NA 0 PE1 NX_Q9NVH0 70353 621 8.63 14 Mitochondrion;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9NVH1 63278 559 8.54 1 Mitochondrion;Cytosol;Mitochondrion outer membrane NA 0 PE1 NX_Q9NVH2 106834 962 8.3 1 Cytoplasm;Nucleus;Centrosome;Chromosome NA 0 PE1 NX_Q9NVH6 49518 421 7.64 X Mitochondrion;Mitochondrion matrix Autism, X-linked 6 0 PE1 NX_Q9NVI1 149324 1328 6.31 15 Nucleoplasm;Nucleus Fanconi anemia complementation group I 0 PE1 NX_Q9NVI7 71369 634 9.08 1 Mitochondrion nucleoid;Mitochondrion inner membrane Harel-Yoon syndrome 1 PE1 NX_Q9NVJ2 21539 186 8.67 3 Late endosome membrane;Spindle;Lysosome membrane NA 0 PE1 NX_Q9NVK5 29426 253 5.69 12 Mitochondrion;Cytoplasm NA 0 PE1 NX_Q9NVL1 18454 165 8.51 11 NA NA 0 PE1 NX_Q9NVL8 34690 296 9.28 14 Cytosol;Nucleus NA 0 PE1 NX_Q9NVM1 18374 165 4.62 1 Cytosol;Membrane NA 1 PE1 NX_Q9NVM4 78459 692 5.33 16 Nucleoplasm;Cytosol;Nucleolus;Nucleus Short stature, brachydactyly, intellectual developmental disability, and seizures 0 PE1 NX_Q9NVM6 34687 304 8.61 15 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9NVM9 80225 706 6.24 12 Cytoplasm;Nucleus NA 0 PE1 NX_Q9NVN3 58825 520 5.52 12 Cytosol;Cell cortex;Centrosome NA 0 PE1 NX_Q9NVN8 65573 582 8.68 X Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q9NVP1 75407 670 9.52 2 Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_Q9NVP2 22434 202 4.46 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NVP4 82192 752 8.44 20 Nucleolus NA 0 PE1 NX_Q9NVQ4 20215 179 5.55 3 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9NVR0 80148 708 5.78 17 NA NA 0 PE1 NX_Q9NVR2 82236 710 7.24 8 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NVR5 91114 837 5.1 14 Cytosol;Cytoplasm Ciliary dyskinesia, primary, 10 0 PE1 NX_Q9NVR7 63530 557 8.93 3 Spindle pole;Centrosome NA 0 PE1 NX_Q9NVS2 22184 196 10.35 6 Mitochondrion NA 0 PE1 NX_Q9NVS9 29988 261 6.61 17 Cytosol;Nucleoplasm Pyridoxine-5'-phosphate oxidase deficiency 0 PE1 NX_Q9NVT9 31281 282 5.54 8 Mitochondrion NA 0 PE1 NX_Q9NVU0 79898 708 6.05 16 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NVU7 79871 687 9.29 4 Nucleolus;Nucleus NA 0 PE1 NX_Q9NVV0 32510 291 9.16 9 Endoplasmic reticulum membrane Osteogenesis imperfecta 14 7 PE1 NX_Q9NVV2 13750 129 12 19 Cytosol;Nucleus NA 0 PE1 NX_Q9NVV4 66172 582 9.24 10 Mitochondrion;Cytoplasm Spastic ataxia 4, autosomal recessive 0 PE1 NX_Q9NVV5 28222 245 8.49 6 Golgi apparatus;Membrane NA 6 PE1 NX_Q9NVV9 24944 213 8.66 8 Nucleoplasm;PML body;Nucleus Dystonia 6, torsion 0 PE1 NX_Q9NVW2 68549 624 7.2 X Nucleoplasm;Cytosol;Nucleus Mental retardation, X-linked 61 0 PE1 NX_Q9NVX0 26933 235 7.74 15 Nucleoplasm;Cytosol;Spindle;Centrosome NA 0 PE1 NX_Q9NVX2 53320 485 6.92 17 Nucleolus;Nucleus NA 0 PE1 NX_Q9NVX7 58144 518 5.42 11 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9NVZ3 28339 263 8.49 1 Cytoplasm;Endoplasmic reticulum;Nucleus;Cell membrane;Clathrin-coated vesicle membrane NA 0 PE1 NX_Q9NW07 59287 568 6.11 19 Nucleus NA 0 PE1 NX_Q9NW08 127785 1133 8.77 12 Nucleus speckle;Nucleus Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 0 PE1 NX_Q9NW13 85738 759 9.26 7 Nucleolus Alopecia, neurologic defects, and endocrinopathy syndrome 0 PE1 NX_Q9NW15 76329 660 7.1 3 Cell membrane Spinocerebellar ataxia, autosomal recessive, 10 8 PE1 NX_Q9NW38 42905 375 6.02 2 Cytoplasmic vesicle;Cytoplasm;Nucleus Fanconi anemia complementation group L 0 PE1 NX_Q9NW61 17551 149 7.69 19 Mitochondrion NA 0 PE1 NX_Q9NW64 46896 420 8.83 5 Cytoplasm;Nucleus NA 0 PE1 NX_Q9NW68 47163 430 4.43 1 Golgi apparatus NA 0 PE1 NX_Q9NW75 58944 528 9.2 1 Nucleus speckle;Nucleolus NA 0 PE1 NX_Q9NW81 29267 257 6 19 Mitochondrion NA 0 PE1 NX_Q9NW82 73201 654 5.94 5 Cytosol;Mitochondrion NA 0 PE1 NX_Q9NW97 27759 253 5.4 1 Cytosol;Nucleoplasm;Membrane NA 2 PE1 NX_Q9NWA0 16403 146 6.84 17 Nucleoplasm;Nucleus;Midbody NA 0 PE1 NX_Q9NWB1 42784 397 6.37 16 Cytosol;Cytoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9NWB6 33216 273 10.35 13 Nucleoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q9NWB7 49108 429 4.93 3 Cytosol;Nucleus speckle;Mitochondrion;Cilium basal body Orofaciodigital syndrome 18 0 PE1 NX_Q9NWC5 31680 275 7.13 3 Cytoplasmic vesicle;Endoplasmic reticulum;Membrane NA 5 PE1 NX_Q9NWD8 35052 314 5.91 7 Cytoplasmic vesicle;Membrane NA 4 PE1 NX_Q9NWD9 14067 120 5.97 X Cytosol;Cytoplasm;Nucleus;Spindle pole NA 0 PE1 NX_Q9NWF4 46317 448 5.9 17 Cell membrane Riboflavin deficiency 11 PE1 NX_Q9NWF9 99406 866 4.83 7 Nucleoplasm;Cytosol;Nucleus;Cytoplasm Gordon Holmes syndrome 0 PE1 NX_Q9NWH2 14758 141 9.17 6 Membrane NA 2 PE1 NX_Q9NWH7 55989 488 8.8 1 Nucleoplasm;Cytoplasmic vesicle;Flagellum;Golgi apparatus;Secreted NA 0 PE1 NX_Q9NWH9 117148 1034 7.69 15 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NWK9 53918 470 5.62 1 Cytoplasmic vesicle;Nucleus speckle NA 0 PE1 NX_Q9NWL6 72080 643 6.4 2 Cytosol NA 0 PE1 NX_Q9NWM0 61819 555 5.29 20 Cytoplasmic vesicle;Cytoplasm;Nucleus;Nucleus membrane;Nucleoplasm NA 0 PE1 NX_Q9NWM3 42258 386 5.48 17 Cytosol;Mitochondrion;Centrosome NA 0 PE1 NX_Q9NWM8 24172 211 5.7 7 Cytosol;Endoplasmic reticulum lumen;Nucleus;Golgi apparatus Ehlers-Danlos syndrome, kyphoscoliotic type, 2 0 PE1 NX_Q9NWN3 78711 711 8.32 14 Nucleus speckle NA 0 PE1 NX_Q9NWQ4 54260 482 8.77 14 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9NWQ8 46981 432 4.57 8 Cytoplasmic vesicle;Cell membrane NA 1 PE1 NX_Q9NWQ9 16009 140 4.89 14 Mitochondrion;Cytosol NA 0 PE1 NX_Q9NWR8 39082 336 9.23 4 Cytosol;Nucleoplasm;Mitochondrion inner membrane NA 2 PE1 NX_Q9NWS0 32363 290 5.05 19 Cytosol NA 0 PE1 NX_Q9NWS1 65054 579 8.96 12 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9NWS6 40269 357 5.7 22 Cytosol;Cytoskeleton;Membrane NA 1 PE1 NX_Q9NWS8 51604 449 8.88 6 Mitochondrion Combined oxidative phosphorylation deficiency 11 0 PE1 NX_Q9NWS9 48957 450 5.72 19 Nucleus speckle;Nucleus NA 0 PE1 NX_Q9NWT1 43964 392 9.07 6 Nucleoplasm;Nucleolus NA 0 PE1 NX_Q9NWT6 40285 349 5.39 10 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus;Cytosol NA 0 PE1 NX_Q9NWT8 22354 199 10.76 1 Mitochondrion;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NWU1 48843 459 7.59 3 Mitochondrion;Cytosol NA 0 PE1 NX_Q9NWU2 26749 228 4.92 20 Nucleoplasm;Cytoplasm;Nucleus;Cell junction NA 0 PE1 NX_Q9NWU5 23641 206 9.95 5 Mitochondrion NA 0 PE1 NX_Q9NWV4 18048 160 4.93 1 Cytosol NA 0 PE1 NX_Q9NWV8 36560 329 4.6 19 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9NWW0 15291 138 6.83 16 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9NWW5 35919 311 8.94 15 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Endoplasmic reticulum Ceroid lipofuscinosis, neuronal, 6;Ceroid lipofuscinosis, neuronal, 4A 7 PE1 NX_Q9NWW6 23193 199 4.82 9 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9NWW7 64077 574 9.15 2 Nucleus NA 0 PE1 NX_Q9NWW9 17394 162 9.3 11 Cytoplasm;Membrane NA 1 PE1 NX_Q9NWX5 47136 421 5.62 9 Cytoplasm NA 0 PE1 NX_Q9NWX6 34831 298 8.12 5 Mitochondrion;Cytoplasm NA 0 PE1 NX_Q9NWY4 39436 346 6.34 4 Nucleus NA 0 PE1 NX_Q9NWZ3 51530 460 5.24 12 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus IRAK4 deficiency;Recurrent isolated invasive pneumococcal disease 1 0 PE1 NX_Q9NWZ5 61141 548 6.93 20 Cytoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q9NWZ8 28637 242 6.31 X Cytosol;Cytoplasm;Gem;Nucleoplasm NA 0 PE1 NX_Q9NX00 19658 188 7.84 19 Membrane NA 3 PE1 NX_Q9NX01 17015 149 5.63 16 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NX02 120515 1062 5.74 19 Cytosol;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_Q9NX04 23373 203 5.47 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9NX05 120588 1096 9.19 X Nucleus speckle NA 0 PE1 NX_Q9NX07 32499 287 4.61 1 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9NX08 21090 183 5.3 4 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9NX09 25371 232 4.87 10 Mitochondrion;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q9NX14 17317 153 5.17 X Mitochondrion;Mitochondrion inner membrane Mitochondrial complex I deficiency;Linear skin defects with multiple congenital anomalies 3 1 PE1 NX_Q9NX18 19599 166 6.33 11 Cytosol;Mitochondrion matrix;Mitochondrion;Nucleolus Paragangliomas 2 0 PE1 NX_Q9NX20 28449 251 10.13 11 Mitochondrion NA 0 PE1 NX_Q9NX24 17201 153 8.48 5 Cytosol;Nucleoplasm;Nucleolus;Cajal body Dyskeratosis congenita, autosomal recessive, 2 0 PE1 NX_Q9NX31 31779 292 8.74 20 Nucleus speckle;Nucleolus NA 0 PE1 NX_Q9NX36 45806 388 9.57 21 NA NA 0 PE1 NX_Q9NX38 20378 181 8.12 9 Nucleus speckle;Cytosol;Nucleoplasm;Dendrite;Nucleus;Lamellipodium;Growth cone NA 0 PE1 NX_Q9NX40 27626 245 7.02 4 Mitochondrion;Endosome NA 0 PE1 NX_Q9NX45 46941 425 6.79 13 Cytoplasmic vesicle;Cytoplasm;Nucleus NA 0 PE1 NX_Q9NX46 38947 363 4.95 1 Mitochondrion matrix;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9NX47 31232 278 9 10 Endoplasmic reticulum membrane;Mitochondrion;Mitochondrion outer membrane NA 4 PE1 NX_Q9NX52 34021 303 6.61 1 Cell membrane NA 7 PE1 NX_Q9NX55 14665 129 4.9 15 Nucleoplasm;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9NX57 26277 234 6.12 13 Cytoplasmic vesicle;Phagosome membrane;Phagosome;Golgi apparatus NA 0 PE1 NX_Q9NX58 43615 379 9.57 4 Cytoplasm;Nucleolus;Nucleus;Photoreceptor outer segment NA 0 PE1 NX_Q9NX61 53602 479 8.75 19 Cytosol;Membrane NA 8 PE1 NX_Q9NX62 38681 359 6.38 8 Cytosol;trans-Golgi network membrane;Nucleus;Golgi apparatus Chondrodysplasia with joint dislocations, GPAPP type 1 PE1 NX_Q9NX63 26152 227 8.48 7 Mitochondrion;Nucleus;Mitochondrion inner membrane;Cytoplasm NA 0 PE1 NX_Q9NX65 78728 697 8.37 16 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NX70 21073 200 5.86 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NX74 55050 493 6.74 16 Cytosol;Cytoplasm;Endoplasmic reticulum NA 0 PE1 NX_Q9NX76 20419 183 5.23 3 Early endosome membrane;Recycling endosome membrane;Cell membrane NA 4 PE1 NX_Q9NX77 55045 482 8.96 16 Virion;Cell membrane NA 1 PE2 NX_Q9NX78 79536 707 8.67 14 Cytosol;Focal adhesion;Nucleus;Membrane Structural heart defects and renal anomalies syndrome 8 PE1 NX_Q9NX94 37828 342 5.02 10 Nucleoplasm;Cytoskeleton;Membrane NA 1 PE1 NX_Q9NX95 72388 663 5.87 8 Cytoplasmic vesicle;Cytoskeleton;Golgi apparatus membrane NA 1 PE1 NX_Q9NXA8 33881 310 8.82 6 Cytosol;Cytoplasm;Mitochondrion matrix;Nucleus;Mitochondrion intermembrane space;Mitochondrion NA 0 PE1 NX_Q9NXB0 64528 559 6.04 17 Centrosome;Cilium basal body Bardet-Biedl syndrome 13;Meckel syndrome 1;Joubert syndrome 28 0 PE1 NX_Q9NXB9 34585 296 9.32 6 Endoplasmic reticulum membrane NA 7 PE1 NX_Q9NXC2 43158 390 5.63 6 Cytosol;Nucleoplasm;Cell membrane;Secreted NA 0 PE1 NX_Q9NXC5 98584 875 6.29 7 Nucleoplasm;Cytosol;Lysosome membrane NA 0 PE1 NX_Q9NXD2 88273 777 8.78 15 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NXE4 97810 866 8.5 2 Endoplasmic reticulum membrane;Cytosol;Golgi apparatus membrane;Nucleus membrane NA 1 PE1 NX_Q9NXE8 49647 425 10.18 17 Nucleus speckle NA 0 PE1 NX_Q9NXF1 105674 929 9.43 9 Nucleoplasm;Cytoplasm;Nucleolus NA 0 PE1 NX_Q9NXF7 24193 216 5.71 4 Cytosol;Cell membrane NA 0 PE1 NX_Q9NXF8 35140 308 8.28 16 Golgi apparatus membrane;Golgi apparatus NA 4 PE1 NX_Q9NXG0 161571 1405 8.28 9 Nucleoplasm;Centriole;Cytosol;Centrosome NA 0 PE1 NX_Q9NXG2 39315 353 8.01 16 Cytosol NA 0 PE1 NX_Q9NXG6 56661 502 5.68 3 Endoplasmic reticulum membrane;Cytoplasmic vesicle;Cytosol NA 1 PE1 NX_Q9NXH3 16508 145 7.72 15 Cytoplasm NA 0 PE1 NX_Q9NXH8 46914 423 9.98 9 Nucleoplasm;Membrane NA 1 PE1 NX_Q9NXH9 72234 659 7.77 19 Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q9NXI6 24145 227 7.02 1 Endoplasmic reticulum membrane NA 2 PE1 NX_Q9NXJ0 28069 267 6.81 11 Membrane NA 4 PE1 NX_Q9NXJ5 23138 209 5.54 19 Cytoplasm;Golgi apparatus NA 0 PE1 NX_Q9NXK6 38014 330 8.6 15 Cytoplasmic vesicle;Cell membrane NA 7 PE1 NX_Q9NXK8 37026 326 9.11 19 Mitochondrion NA 0 PE1 NX_Q9NXL2 89078 777 5.87 4 Nucleoplasm;Centrosome NA 0 PE1 NX_Q9NXL6 93839 827 6.95 3 Membrane NA 11 PE1 NX_Q9NXL9 127313 1143 7.87 6 Nucleoplasm;Nucleus;Chromosome Ovarian dysgenesis 4 0 PE1 NX_Q9NXN4 56225 497 5.48 1 Endoplasmic reticulum NA 0 PE1 NX_Q9NXP7 59842 522 8.01 5 Nucleolus;Nucleus NA 0 PE1 NX_Q9NXR1 37721 335 5.09 16 Kinetochore;Spindle;Cytoskeleton;Centrosome;Cleavage furrow Microhydranencephaly;Lissencephaly 4 0 PE1 NX_Q9NXR5 44768 420 5.58 13 Cytosol;Cytoskeleton NA 0 PE1 NX_Q9NXR7 43552 383 5.53 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9NXR8 46743 418 5.88 7 Nucleus Squamous cell carcinoma of the head and neck 0 PE1 NX_Q9NXS2 42924 382 9.84 19 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q9NXS3 64192 571 5.74 14 Cytosol NA 0 PE1 NX_Q9NXT0 46413 402 9.14 19 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 NX_Q9NXU5 22876 204 5.41 5 Golgi apparatus;Cell junction;Cell membrane NA 0 PE1 NX_Q9NXV2 26093 234 5.89 16 Cytosol;Nucleus NA 0 PE1 NX_Q9NXV6 61125 580 9.13 4 Nucleoplasm NA 0 PE1 NX_Q9NXW2 41860 375 8.81 10 Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleus membrane NA 1 PE1 NX_Q9NXW9 33838 302 6.27 7 Cytoplasm;Nucleus;Midbody NA 0 PE1 NX_Q9NXX6 44301 385 5.25 10 Nucleoplasm;Cytoplasm;Nucleus;Telomere NA 0 PE1 NX_Q9NXZ1 99225 904 6.02 X Nucleus NA 0 PE1 NX_Q9NXZ2 72844 648 8.91 6 Cytoplasm;Nucleus NA 0 PE1 NX_Q9NY12 22348 217 10.91 4 Cajal body;Nucleolus;Nucleus NA 0 PE1 NX_Q9NY15 275482 2570 6.05 3 Cytosol;Nucleoplasm;Cell membrane;Membrane NA 1 PE1 NX_Q9NY25 21521 188 9.04 7 Cytosol;Cell membrane NA 1 PE1 NX_Q9NY26 34250 324 5.6 1 Endoplasmic reticulum membrane;Cytosol;Cell membrane NA 8 PE1 NX_Q9NY27 46898 417 4.48 3 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q9NY28 72851 637 9.02 12 Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 NX_Q9NY30 25970 223 8.86 11 Golgi apparatus;Endoplasmic reticulum NA 0 PE1 NX_Q9NY33 82589 737 5.01 11 Cytosol;Nucleus speckle;Cell membrane NA 0 PE1 NX_Q9NY35 28603 253 5.53 3 Cytosol;Nucleolus;Nucleus;Membrane NA 4 PE1 NX_Q9NY37 57464 505 8.51 4 Cell membrane NA 2 PE1 NX_Q9NY43 41981 387 8.67 1 Nucleus NA 0 PE1 NX_Q9NY46 226294 2000 5.6 2 Cell membrane Epileptic encephalopathy, early infantile, 62;Epilepsy, familial focal, with variable foci 4 24 PE1 NX_Q9NY47 129817 1150 5.54 3 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q9NY56 19318 170 8.37 9 Secreted NA 0 PE1 NX_Q9NY57 47883 414 7.63 4 Cytoskeleton NA 0 PE1 NX_Q9NY59 71081 655 5.52 16 Golgi apparatus membrane;Endoplasmic reticulum;Cell membrane NA 0 PE1 NX_Q9NY61 63133 560 4.83 17 Nucleolus NA 0 PE1 NX_Q9NY64 50819 477 7.55 9 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Cell membrane NA 12 PE1 NX_Q9NY65 50094 449 4.94 22 Cytoskeleton Cortical dysplasia, complex, with other brain malformations 8 0 PE1 NX_Q9NY72 24702 215 4.69 11 Cytosol;Cytoskeleton;Golgi apparatus;Cell membrane;Membrane Brugada syndrome 7;Atrial fibrillation, familial, 16 1 PE1 NX_Q9NY74 103440 926 7.71 2 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NY84 56118 501 5.66 6 Cell membrane NA 0 PE2 NX_Q9NY87 10982 97 5.22 X Cytoplasm;Nucleus NA 0 PE1 NX_Q9NY91 72456 659 5.8 22 Cell membrane NA 11 PE1 NX_Q9NY93 61590 547 9.34 7 Nucleolus;Nucleus NA 0 PE1 NX_Q9NY97 46022 397 8.75 2 Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 NX_Q9NY99 60217 539 7.59 2 Cytoskeleton;Sarcolemma NA 0 PE1 NX_Q9NYA1 42518 384 6.64 17 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9NYA3 79946 693 5.34 15 NA NA 0 PE2 NX_Q9NYA4 133353 1195 5.68 17 Cytoplasm;Membrane NA 0 PE1 NX_Q9NYB0 44260 399 4.64 16 Nucleoplasm;Cytoplasm;Nucleus;Chromosome;Telomere NA 0 PE1 NX_Q9NYB5 78696 712 8.82 12 Cell membrane NA 12 PE2 NX_Q9NYB9 55663 513 5.82 2 Nucleoplasm;Cytoplasm;Nucleus;Filopodium;Adherens junction;Lamellipodium;Cytoskeleton NA 0 PE1 NX_Q9NYC9 511877 4486 5.64 17 Cilium axoneme NA 0 PE1 NX_Q9NYD6 38073 342 8.45 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NYF0 90174 836 8.93 14 Nucleoplasm;Cytoplasm;Synapse;Nucleus Neural tube defects;Townes-Brocks syndrome 2 0 PE1 NX_Q9NYF3 43091 392 9 5 NA NA 0 PE1 NX_Q9NYF5 104543 915 4.87 5 Nucleoplasm NA 0 PE1 NX_Q9NYF8 106122 920 9.99 6 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q9NYG2 34170 299 8.54 3 Golgi apparatus membrane;Golgi apparatus NA 4 PE1 NX_Q9NYG5 9841 84 7.99 17 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9NYG8 42704 393 8.91 11 Cell membrane NA 4 PE1 NX_Q9NYH9 70194 597 6.92 17 Nucleolus NA 0 PE1 NX_Q9NYI0 116034 1048 5.68 8 Cytoplasmic vesicle;Postsynaptic density;Nucleus;Cell membrane;Ruffle membrane NA 0 PE1 NX_Q9NYJ1 10134 87 5.65 11 Mitochondrion;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9NYJ7 64618 618 7.86 19 Nucleoplasm;Cytosol;Membrane Spondylocostal dysostosis 1, autosomal recessive 1 PE1 NX_Q9NYJ8 76494 693 8.8 6 Cytosol;Membrane Congenital heart defects, multiple types, 2 0 PE1 NX_Q9NYK1 120922 1049 8.51 X Endoplasmic reticulum membrane;Endosome;Phagosome;Lysosome NA 1 PE1 NX_Q9NYK5 38712 338 7.56 21 Mitochondrion NA 0 PE1 NX_Q9NYK6 33948 297 6.1 21 Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q9NYL2 91155 800 7.9 2 Cytosol;Cytoplasm;Nucleus Myopathy, centronuclear, 6, with fiber-type disproportion;Split-foot malformation with mesoaxial polydactyly 0 PE1 NX_Q9NYL4 22180 201 9.44 12 Centrosome;Membrane NA 1 PE1 NX_Q9NYL5 54116 469 8.85 6 Endoplasmic reticulum membrane;Microsome membrane NA 0 PE1 NX_Q9NYL9 39595 352 5.08 15 Cytosol;Cytoskeleton NA 0 PE1 NX_Q9NYM4 48339 423 9.32 11 Cell membrane NA 7 PE2 NX_Q9NYM9 12388 111 7.87 11 trans-Golgi network membrane;Nucleus;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q9NYN1 29662 266 9.16 15 NA NA 0 PE1 NX_Q9NYP3 62747 566 8.84 21 Cytosol;Nucleoplasm;Nucleus;Cell junction Microcephaly, short stature, and limb abnormalities;Microcephaly-micromelia syndrome 0 PE1 NX_Q9NYP7 35293 299 9.49 6 Endoplasmic reticulum membrane;Dendrite;Endoplasmic reticulum Spinocerebellar ataxia 38 7 PE1 NX_Q9NYP8 24886 219 8.31 21 NA NA 0 PE2 NX_Q9NYP9 25863 233 5.14 21 Cytosol;Centromere;Nucleus;Chromosome NA 0 PE1 NX_Q9NYQ3 38839 351 7.57 1 Peroxisome NA 0 PE1 NX_Q9NYQ6 329486 3014 5.59 22 Cell membrane Neural tube defects 7 PE1 NX_Q9NYQ7 358185 3312 6.23 3 Cell membrane NA 7 PE1 NX_Q9NYQ8 479317 4349 5 5 Cell junction;Cell membrane;trans-Golgi network Spinocerebellar ataxia 45 1 PE1 NX_Q9NYR8 33755 311 8.74 19 Membrane NA 3 PE1 NX_Q9NYR9 21508 191 8.22 17 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9NYS0 21643 192 5.99 3 Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q9NYS7 45286 404 8.36 12 NA NA 0 PE1 NX_Q9NYT0 39971 353 9.45 14 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Lamellipodium membrane NA 0 PE1 NX_Q9NYT6 91921 803 9.01 19 Nucleus NA 0 PE1 NX_Q9NYU1 174735 1516 6.43 13 Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum lumen NA 0 PE1 NX_Q9NYU2 177190 1555 5.42 2 Cytosol;Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum lumen NA 0 PE1 NX_Q9NYV4 164155 1490 9.46 17 Nucleus speckle;Nucleus NA 0 PE1 NX_Q9NYV6 74107 651 5.4 16 Nucleolus NA 0 PE1 NX_Q9NYV7 33986 291 9.5 7 Cell membrane NA 7 PE1 NX_Q9NYV8 36160 317 10.12 12 Membrane NA 7 PE1 NX_Q9NYV9 35118 303 9.68 12 Membrane NA 7 PE1 NX_Q9NYW0 35365 307 9.55 12 Membrane NA 7 PE1 NX_Q9NYW1 35611 312 9.83 12 Membrane NA 7 PE1 NX_Q9NYW2 35877 309 9.66 12 Membrane NA 7 PE1 NX_Q9NYW3 36550 318 9.69 12 Membrane NA 7 PE1 NX_Q9NYW4 34505 299 9.86 7 Membrane NA 7 PE1 NX_Q9NYW5 33841 299 9.85 7 Cilium membrane;Membrane NA 7 PE1 NX_Q9NYW6 35915 316 9.72 7 Membrane NA 7 PE2 NX_Q9NYW7 34333 299 9.87 5 Membrane NA 7 PE1 NX_Q9NYW8 82995 714 7.02 7 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NYX4 23434 217 6.43 10 Cytoplasmic vesicle membrane;Cell membrane NA 1 PE1 NX_Q9NYY1 20072 176 8.92 1 Secreted NA 0 PE1 NX_Q9NYY3 78237 685 8.52 5 Mitochondrion;Nucleoplasm;Centriole;Cytosol;Dendrite NA 0 PE1 NX_Q9NYY8 81463 710 8.31 2 Mitochondrion nucleoid;Mitochondrion NA 0 PE1 NX_Q9NYZ1 23576 205 8.62 17 Membrane NA 4 PE1 NX_Q9NYZ2 37323 338 9.33 8 Cytoplasm;Mitochondrion inner membrane;Cell membrane NA 6 PE1 NX_Q9NYZ3 76645 720 9.45 22 Cytoskeleton;Centrosome;Cell membrane NA 0 PE1 NX_Q9NYZ4 54042 499 8.39 19 Cytosol;Membrane NA 1 PE1 NX_Q9NZ01 36034 308 9.5 19 Endoplasmic reticulum membrane;Endoplasmic reticulum Mental retardation, autosomal recessive 14 3 PE1 NX_Q9NZ08 107235 941 6.02 5 Endoplasmic reticulum membrane;Nucleoplasm;Cytosol;Cell membrane NA 1 PE1 NX_Q9NZ09 55084 502 5.02 9 Cytosol;Cytoplasm;Endosome;Cell membrane NA 0 PE1 NX_Q9NZ20 57167 509 9.35 22 Centriole;Cell membrane;Secreted NA 0 PE1 NX_Q9NZ32 46307 417 7.06 14 Cytoskeleton;Nucleolus NA 0 PE1 NX_Q9NZ38 21312 188 10.21 10 NA NA 0 PE2 NX_Q9NZ42 12029 101 9.25 19 Endoplasmic reticulum membrane;Golgi stack membrane;Cell membrane;Membrane Acne inversa, familial, 2, with or without Dowling-Degos disease 1 PE1 NX_Q9NZ43 29371 259 9.13 19 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 NX_Q9NZ45 12199 108 9.2 10 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA 1 PE1 NX_Q9NZ52 78315 723 5.41 17 Endosome membrane;Recycling endosome membrane;Early endosome membrane;trans-Golgi network membrane;Golgi apparatus NA 0 PE1 NX_Q9NZ53 65076 605 4.27 3 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 1 PE1 NX_Q9NZ56 180106 1722 5.32 1 Nucleolus;Cytosol;Cell cortex;Cell membrane;Perinuclear region;Nucleus;Cytoskeleton;Cytoplasmic vesicle membrane Mental retardation, autosomal recessive 47 0 PE1 NX_Q9NZ63 33688 289 6.33 9 Nucleoplasm NA 0 PE1 NX_Q9NZ71 133683 1219 8.6 20 Nucleus speckle;Nucleus Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 3;Dyskeratosis congenita, autosomal dominant, 4 0 PE1 NX_Q9NZ72 21017 180 6.99 20 Axon;Growth cone;Golgi apparatus NA 0 PE1 NX_Q9NZ81 15385 148 9.75 12 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9NZ94 93895 848 5.94 X Cell membrane;Synapse;Cell junction;Golgi apparatus Asperger syndrome, X-linked, 1;Autism, X-linked 1 1 PE1 NX_Q9NZA1 46503 410 4.71 6 Nucleus speckle;Golgi apparatus;Cell cortex;Cell membrane;Membrane;Cytoskeleton;Centrosome Deafness, autosomal recessive, 103 1 PE1 NX_Q9NZB2 121888 1118 9.07 9 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9NZB8 70105 636 9.4 6 Cytosol;Cell membrane Molybdenum cofactor deficiency, complementation group A 0 PE1 NX_Q9NZC2 25447 230 5.84 6 Cell membrane;Secreted Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 PE1 NX_Q9NZC3 37718 331 6.22 16 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Nucleolus;Nucleus;Cell membrane NA 2 PE1 NX_Q9NZC4 34892 300 6.83 11 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9NZC7 46677 414 6.71 16 Mitochondrion;Cytoplasm;Nucleus;Cytosol;Golgi apparatus Spinocerebellar ataxia, autosomal recessive, 12;Esophageal cancer;Epileptic encephalopathy, early infantile, 28 0 PE1 NX_Q9NZC9 105938 954 9.15 2 Nucleoplasm;Nucleus Schimke immuno-osseous dysplasia 0 PE1 NX_Q9NZD1 38791 345 4.87 12 Cell membrane NA 7 PE1 NX_Q9NZD2 23850 209 6.91 12 Cytosol;Cytoplasm NA 0 PE1 NX_Q9NZD4 11840 102 4.9 16 Cytoplasm NA 0 PE1 NX_Q9NZD8 34960 308 5.85 15 Endosome membrane;Cytosol;Cytoplasmic vesicle;trans-Golgi network membrane;Membrane Spastic paraplegia 21, autosomal recessive 0 PE1 NX_Q9NZE8 21514 188 11.29 2 Mitochondrion NA 0 PE1 NX_Q9NZF1 12507 115 7.87 4 Cytosol NA 0 PE1 NX_Q9NZG7 15680 142 9.52 12 Membrane NA 2 PE1 NX_Q9NZH0 44795 403 8.56 16 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Nucleolus;Nucleus;Cell membrane NA 7 PE1 NX_Q9NZH4 22064 202 5.54 8 Cytoplasm;Nucleus NA 0 PE5 NX_Q9NZH5 22302 202 5.98 4 Cytoplasm;Nucleus NA 0 PE1 NX_Q9NZH6 24126 218 6.09 2 Cytosol;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Secreted NA 0 PE1 NX_Q9NZH7 18522 164 9.6 2 Secreted NA 0 PE1 NX_Q9NZH8 18721 169 5.06 2 Secreted NA 0 PE1 NX_Q9NZI2 26817 227 5.1 5 Dendrite;Cell membrane;Cytoplasm NA 0 PE1 NX_Q9NZI5 70113 618 6.26 2 Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9NZI6 54627 479 6.53 2 Nucleolus;Nucleus NA 0 PE1 NX_Q9NZI7 60491 540 5.92 3 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9NZI8 63481 577 9.26 17 Filopodium;Cytosol;Cytoplasm;Axon;Dendrite;Perinuclear region;Nucleus;Dendritic spine;Lamellipodium;Growth cone NA 0 PE1 NX_Q9NZJ0 79468 730 9.11 1 Cytosol;Nucleus;Chromosome;Nucleus membrane;Centrosome NA 0 PE1 NX_Q9NZJ4 521126 4579 6.63 13 Cytoplasm Spastic ataxia Charlevoix-Saguenay type 0 PE1 NX_Q9NZJ5 125216 1116 5.27 2 Endoplasmic reticulum membrane Wolcott-Rallison syndrome 1 PE1 NX_Q9NZJ6 41054 369 7.1 6 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_Q9NZJ7 41544 389 9.4 6 Mitochondrion inner membrane NA 2 PE1 NX_Q9NZJ9 20306 180 5.99 12 Cytoplasm NA 0 PE1 NX_Q9NZK5 58934 511 7.75 22 Secreted Sneddon syndrome;Polyarteritis nodosa 0 PE1 NX_Q9NZK7 15989 142 8.61 1 Secreted NA 0 PE1 NX_Q9NZL3 82280 707 9.01 19 Nucleus;Nucleus membrane NA 0 PE1 NX_Q9NZL4 39303 359 5.13 19 Cytoplasmic vesicle;Cytosol NA 0 PE1 NX_Q9NZL6 86701 768 5.78 1 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_Q9NZL9 37552 334 6.9 5 Nucleus NA 0 PE1 NX_Q9NZM1 234709 2061 5.84 10 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Nucleus membrane;Cell membrane NA 1 PE1 NX_Q9NZM3 193461 1697 8.32 2 Cytoplasmic vesicle;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9NZM4 158490 1560 6.17 19 Nucleoplasm NA 0 PE1 NX_Q9NZM5 54389 478 10.32 19 Nucleoplasm;Nucleolus NA 0 PE1 NX_Q9NZM6 73790 624 9 5 Cytosol;Cell membrane;Membrane NA 6 PE1 NX_Q9NZN1 79969 696 5.87 X Axon;Cytoplasm;Cell membrane;Dendrite Mental retardation, X-linked 21 1 PE1 NX_Q9NZN3 60887 535 6.12 2 Cilium membrane;Recycling endosome membrane;Cell membrane NA 0 PE1 NX_Q9NZN4 61161 543 6.03 19 Caveola;Endosome membrane;Cytosol;Cell membrane NA 0 PE1 NX_Q9NZN5 173232 1544 5.49 11 Nucleoplasm;Cytoplasm;Cytosol;Cell membrane;Membrane NA 0 PE1 NX_Q9NZN8 59738 540 7.23 12 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9NZN9 43903 384 5.63 17 Cytosol;Nucleoplasm;Nucleus;Cytoplasm Leber congenital amaurosis 4 0 PE1 NX_Q9NZP0 35531 311 8.75 12 Cell membrane NA 7 PE3 NX_Q9NZP2 35178 312 8.96 12 Cell membrane NA 7 PE3 NX_Q9NZP5 35304 309 9.13 3 Cell membrane NA 7 PE3 NX_Q9NZP6 120954 1156 8.94 15 Nucleoplasm;Nucleus inner membrane NA 0 PE1 NX_Q9NZP8 53498 487 6.75 12 Cytosol;Cytoskeleton;Secreted NA 0 PE1 NX_Q9NZQ0 30855 273 8.71 2 Cytosol;Nucleus NA 0 PE1 NX_Q9NZQ3 78960 722 5.94 3 Cytosol;Nucleus;Cell membrane NA 0 PE1 NX_Q9NZQ7 33275 290 6.76 9 Cytosol;Early endosome membrane;Recycling endosome membrane;Cell membrane;Endomembrane system NA 1 PE1 NX_Q9NZQ8 131451 1165 6.32 11 Cell membrane NA 6 PE2 NX_Q9NZQ9 39335 345 4.69 1 Cytoskeleton NA 0 PE1 NX_Q9NZR1 39595 351 5.21 15 Cytoskeleton;Nucleolus;Nucleus NA 0 PE1 NX_Q9NZR2 515498 4599 5.09 2 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q9NZR4 38431 365 8.99 20 Nucleus Keratoconus 1;Craniofacial anomalies and anterior segment dysgenesis syndrome 0 PE1 NX_Q9NZS2 26666 232 8.84 12 Membrane NA 1 PE1 NX_Q9NZS9 52738 450 6.11 16 Endoplasmic reticulum membrane NA 4 PE1 NX_Q9NZT1 15893 146 4.34 10 Cytosol;Cell membrane NA 0 PE1 NX_Q9NZT2 73325 677 4.77 20 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9NZU0 73004 649 7.55 20 Endoplasmic reticulum membrane;Secreted;Cytosol;Cell membrane;Axon;Focal adhesion;Cell junction Hypogonadotropic hypogonadism 21 with or without anosmia 1 PE1 NX_Q9NZU1 71358 646 5.95 11 Endoplasmic reticulum membrane;Secreted;Focal adhesion;Cell membrane;Perinuclear region;Cytoplasmic vesicle membrane;Cell projection;Cell junction NA 1 PE1 NX_Q9NZU5 40833 365 8.27 3 Cytosol;Cytoplasm;Nucleus;Cell junction;Cell membrane NA 0 PE1 NX_Q9NZU7 39838 370 8.65 12 Golgi apparatus;Cell cortex;Cell membrane;Perinuclear region;Postsynaptic density;Cytoskeleton NA 0 PE1 NX_Q9NZV1 113738 1036 5.08 2 Cell membrane;Secreted NA 1 PE1 NX_Q9NZV5 65813 590 5.32 1 Endoplasmic reticulum membrane;Cytosol Rigid spine muscular dystrophy 1;Myopathy, congenital, with fiber-type disproportion 0 PE1 NX_Q9NZV6 12760 116 8.64 16 Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9NZV7 61164 527 6.3 19 Cytosol;Nucleus speckle;Nucleus NA 0 PE1 NX_Q9NZV8 70537 630 8.24 7 Synapse;Perikaryon;Cell membrane;Dendrite;Postsynaptic cell membrane;Dendritic spine;Cell junction NA 6 PE1 NX_Q9NZW4 131151 1301 3.58 4 Extracellular matrix Dentin dysplasia 2;Dentinogenesis imperfecta, Shields type 3;Dentinogenesis imperfecta, Shields type 2;Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 0 PE1 NX_Q9NZW5 61117 540 5.82 7 Membrane NA 0 PE1 NX_Q9NZY2 14626 134 6.88 14 NA NA 0 PE5 NX_Q9NZZ3 24571 219 4.68 9 Cytosol;Endosome membrane;Cytoskeleton;Midbody NA 0 PE1 NX_Q9P000 21819 198 5.6 11 Cytosol;Cytoplasmic vesicle;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9P003 16093 139 6.16 1 Endoplasmic reticulum-Golgi intermediate compartment;Endoplasmic reticulum;Membrane NA 3 PE1 NX_Q9P013 26624 229 5.55 11 Mitochondrion;Nucleus speckle;Nucleus NA 0 PE1 NX_Q9P015 33420 296 10.02 8 Mitochondrion NA 0 PE1 NX_Q9P016 25697 225 9.3 11 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q9P021 11216 101 9.57 2 Cytoplasm;Synapse;Nucleolus;Nucleus;Dendritic spine Short stature with microcephaly and distinctive facies 0 PE1 NX_Q9P031 28670 241 9.89 12 Nucleolus;Nucleus NA 0 PE1 NX_Q9P032 20266 175 8.85 6 Mitochondrion;Membrane Mitochondrial complex I deficiency 0 PE1 NX_Q9P035 43160 362 9.04 15 Endoplasmic reticulum membrane;Nucleus membrane;Cytosol;Cytoplasm;Endoplasmic reticulum;Cell membrane;Mitochondrion NA 6 PE1 NX_Q9P055 36169 319 8.18 14 Nucleoplasm;Cytoplasmic vesicle;Endoplasmic reticulum membrane;Endoplasmic reticulum NA 7 PE1 NX_Q9P086 13129 117 5.71 17 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9P0B6 11459 97 9.52 6 Cytosol;Membrane NA 1 PE1 NX_Q9P0G3 29122 267 9.47 19 Extracellular space NA 0 PE1 NX_Q9P0I2 29952 261 6.33 3 Cytosol;Cytoskeleton;Membrane NA 2 PE1 NX_Q9P0J0 16698 144 8.02 19 Mitochondrion;Mitochondrion inner membrane;Nucleus Hurthle cell thyroid carcinoma 1 PE1 NX_Q9P0J1 61054 537 6.2 8 Mitochondrion matrix;Nucleoplasm;Mitochondrion;Cytosol Pyruvate dehydrogenase phosphatase deficiency 0 PE1 NX_Q9P0J6 11784 103 11.27 5 Mitochondrion;Nucleus NA 0 PE1 NX_Q9P0J7 41945 381 5.41 2 Nucleoplasm;Cytosol NA 0 PE1 NX_Q9P0K1 100433 906 6.91 7 Axon;Cell junction;Cell membrane Epileptic encephalopathy, early infantile, 61 1 PE1 NX_Q9P0K7 110041 980 5.87 5 Stress fiber;Cytosol;Cell cortex;Nucleus;Cytoskeleton;Cell junction NA 0 PE1 NX_Q9P0K8 62395 574 6.2 12 Nucleolus;Nucleus NA 0 PE1 NX_Q9P0K9 37270 344 7.55 9 Synapse;Cell membrane Epileptic encephalopathy, early infantile, 37 1 PE1 NX_Q9P0L0 27893 249 8.8 18 Endoplasmic reticulum membrane;Tight junction;Cell membrane;Endoplasmic reticulum;Nucleus membrane NA 1 PE1 NX_Q9P0L1 85033 754 7.26 3 Nucleus NA 0 PE1 NX_Q9P0L2 89003 795 9.42 1 Cytoplasm;Cytoskeleton;Cell membrane;Dendrite NA 0 PE1 NX_Q9P0L9 91982 805 5.34 10 Cytoplasmic vesicle;Cilium membrane;Cell membrane NA 6 PE1 NX_Q9P0M2 39518 348 5.85 6 Cytoplasm;Nucleus NA 0 PE1 NX_Q9P0M4 21765 197 8.44 16 Secreted NA 0 PE1 NX_Q9P0M6 40058 372 9.71 10 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q9P0M9 16073 148 10.42 17 Mitochondrion NA 0 PE1 NX_Q9P0N5 16487 145 9.39 11 Membrane;Cilium basal body Joubert syndrome 2;Meckel syndrome 2 4 PE1 NX_Q9P0N8 26995 246 7.46 19 Endosome membrane;Endoplasmic reticulum membrane;Lysosome membrane;Cytosol NA 2 PE1 NX_Q9P0N9 33972 293 8.08 6 Cytoplasmic vesicle Macrocephaly/megalencephaly syndrome, autosomal recessive 0 PE1 NX_Q9P0P0 17909 153 4.93 2 Nucleoplasm;Cytosol NA 0 PE1 NX_Q9P0P8 27941 240 9.31 6 NA NA 0 PE1 NX_Q9P0R6 15648 139 4.36 14 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9P0S2 12293 106 9.49 14 Mitochondrion;Cytoplasm;Mitochondrion inner membrane;Cell membrane NA 1 PE1 NX_Q9P0S3 17371 153 9.64 2 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 2 PE1 NX_Q9P0S9 11565 112 9.87 6 Mitochondrion membrane NA 4 PE1 NX_Q9P0T4 22010 197 9.16 19 Nucleus NA 0 PE1 NX_Q9P0T7 20574 183 6.21 1 Late endosome membrane;Lysosome membrane;Endoplasmic reticulum NA 1 PE1 NX_Q9P0U1 6248 55 10.28 7 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA 1 PE1 NX_Q9P0U3 73481 644 8.69 12 Cytoplasm;Focal adhesion;Nucleus NA 0 PE1 NX_Q9P0U4 75712 656 8.61 18 Nucleus speckle;Nucleus NA 0 PE1 NX_Q9P0V3 107496 963 7.77 2 Clathrin-coated vesicle;Nucleus;Clathrin-coated pit NA 0 PE1 NX_Q9P0V8 31670 285 5.8 1 Membrane NA 1 PE1 NX_Q9P0V9 52593 454 6.35 2 Cytoplasm;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q9P0W0 25218 207 8.66 9 Secreted NA 0 PE1 NX_Q9P0W2 35813 317 9.38 19 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q9P0W8 67719 599 5.9 14 Cytosol;Nucleoplasm;Cilium axoneme;Mitochondrion;Cytoskeleton;Cilium basal body Retinitis pigmentosa autosomal recessive;Leber congenital amaurosis 3 0 PE1 NX_Q9P0X4 245103 2223 6.09 22 Membrane NA 24 PE1 NX_Q9P0Z9 44066 390 8.67 17 Peroxisome NA 0 PE1 NX_Q9P104 35464 306 9.02 20 Focal adhesion NA 0 PE1 NX_Q9P107 106683 970 5.5 19 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 NX_Q9P109 53052 453 8.48 5 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q9P121 37971 344 7.98 11 Cell membrane NA 0 PE1 NX_Q9P126 26596 229 8.79 12 Membrane NA 1 PE1 NX_Q9P127 35937 313 9.47 X Cytoplasm;Nucleus NA 0 PE1 NX_Q9P1A2 45908 415 4.62 20 NA NA 0 PE5 NX_Q9P1A6 117620 1054 6.42 8 Postsynaptic density;Synapse;Cell membrane NA 0 PE1 NX_Q9P1C3 5407 46 10.93 14 Secreted NA 0 PE5 NX_Q9P1D8 6607 64 11.3 16 NA NA 0 PE5 NX_Q9P1F3 9056 81 5.86 6 Nucleoplasm;Cytosol NA 0 PE1 NX_Q9P1G2 11378 102 8.77 8 NA NA 0 PE5 NX_Q9P1J3 7343 65 6.54 14 NA NA 0 PE5 NX_Q9P1P4 39065 343 8.7 6 Cell membrane NA 7 PE5 NX_Q9P1P5 40134 351 8.91 6 Cell membrane NA 7 PE2 NX_Q9P1Q0 110589 977 6.1 2 Nucleoplasm;trans-Golgi network;Golgi apparatus NA 0 PE1 NX_Q9P1Q5 34565 309 8.96 17 Cell membrane NA 7 PE2 NX_Q9P1T7 25788 246 5.09 7 Nucleoplasm;Cytoplasm;Nucleolus;Golgi apparatus NA 0 PE1 NX_Q9P1U0 13904 126 4.9 6 Nucleolus NA 0 PE1 NX_Q9P1U1 47608 418 5.61 7 Cytoskeleton;Cell projection NA 0 PE1 NX_Q9P1V8 77151 674 4.43 14 Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 NX_Q9P1W3 93317 806 6.59 14 Centrosome;Membrane NA 10 PE1 NX_Q9P1W8 42498 387 6.71 20 Membrane NA 1 PE1 NX_Q9P1W9 34190 311 5.58 X Cytosol NA 0 PE1 NX_Q9P1Y5 134750 1249 8.61 19 Nucleoplasm;Cytoplasm;Cytoskeleton;Centrosome;Adherens junction NA 0 PE1 NX_Q9P1Y6 178666 1649 9.15 11 NA NA 0 PE1 NX_Q9P1Z0 105114 1013 8.65 17 Nucleoplasm;Cytosol;Nucleus;Chromosome NA 0 PE1 NX_Q9P1Z2 77336 691 4.77 12 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9P1Z3 86032 774 9.75 1 Cell membrane NA 6 PE1 NX_Q9P1Z9 197344 1701 5.75 9 NA NA 0 PE1 NX_Q9P202 96558 907 8.74 9 Photoreceptor inner segment;Cytoplasm;Synapse;Stereocilium;Growth cone Deafness, autosomal recessive, 31;Usher syndrome 2D 0 PE1 NX_Q9P203 126368 1132 6.51 14 Focal adhesion;Nucleus NA 0 PE1 NX_Q9P206 107095 1035 9.75 1 Nucleoplasm;Cell junction;Cell membrane NA 0 PE1 NX_Q9P209 71718 647 6.08 5 Centriolar satellite;Centrosome NA 0 PE1 NX_Q9P212 258715 2302 6.07 10 Cytosol;Golgi apparatus membrane;Cell membrane Nephrotic syndrome 3 0 PE1 NX_Q9P215 69444 609 5.06 1 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9P217 130634 1185 6.78 1 Nucleus speckle NA 0 PE2 NX_Q9P218 135830 1284 8.27 20 Extracellular space NA 0 PE1 NX_Q9P219 228230 2028 5.87 14 Cytoplasm;Nucleolus;Nucleus Spinocerebellar ataxia 40;Hydrocephalus, congenital, 1 0 PE1 NX_Q9P225 507698 4427 5.98 17 Cytoskeleton;Cilium axoneme NA 0 PE1 NX_Q9P227 162192 1491 9.31 17 Cytosol;Nucleoplasm;Cell membrane NA 0 PE1 NX_Q9P232 112883 1028 5.94 3 Cell membrane NA 0 PE1 NX_Q9P241 160274 1426 6.78 4 Endoplasmic reticulum membrane;Nucleoplasm;Cell membrane NA 10 PE1 NX_Q9P242 70548 653 8.71 2 Nucleoplasm;Cytoskeleton NA 0 PE1 NX_Q9P243 139034 1243 6.9 8 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q9P244 82318 771 6.62 19 Postsynaptic density;Synapse;Membrane NA 1 PE1 NX_Q9P246 83971 746 6.3 4 Endoplasmic reticulum membrane NA 1 PE1 NX_Q9P253 110186 973 5.72 15 Lysosome membrane;Late endosome membrane;Clathrin-coated vesicle;Autophagosome;Early endosome NA 0 PE1 NX_Q9P255 61158 531 9.4 19 Nucleus NA 0 PE2 NX_Q9P258 56085 522 9.02 1 Nucleolus;Cell membrane;Spindle;Nucleus;Cytoskeleton;Centromere;Midbody;Chromosome NA 0 PE1 NX_Q9P260 134630 1216 5.28 18 Nucleoplasm;Cytosol;Recycling endosome;trans-Golgi network;Microtubule organizing center NA 0 PE1 NX_Q9P265 171492 1576 8.43 12 Endoplasmic reticulum NA 0 PE1 NX_Q9P266 148351 1359 6.65 10 Cytoplasmic vesicle;Adherens junction;Cell junction NA 0 PE1 NX_Q9P267 159895 1494 9.17 2 Nucleus;Midbody;Chromosome Mental retardation, autosomal dominant 1 0 PE1 NX_Q9P270 62543 581 9.48 4 Cytosol;Cytoskeleton;Centrosome NA 0 PE1 NX_Q9P272 51299 454 6.2 8 Cytosol;Nucleus NA 0 PE2 NX_Q9P273 300950 2699 5.99 4 Nucleoplasm;Axon;Cell membrane Microphthalmia, isolated, with coloboma, 9 1 PE1 NX_Q9P275 122908 1123 9.73 17 Nucleus speckle;Nucleolus;Cytoplasm NA 0 PE1 NX_Q9P278 122115 1114 6.2 4 Cytoplasm NA 0 PE1 NX_Q9P281 280016 2639 9.01 17 Nucleolus NA 0 PE1 NX_Q9P283 125913 1151 7.99 3 Cytosol;Membrane NA 1 PE1 NX_Q9P286 80745 719 8.19 20 Mitochondrion;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9P287 35979 314 4.51 10 Cytosol;Spindle pole;Centriole;Nucleoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q9P289 46529 416 5.16 X Cytosol;Cytoplasm;Nucleus;Centrosome;Golgi apparatus NA 0 PE1 NX_Q9P291 49180 453 9.32 X Mitochondrion;Cytosol;Nucleus;Mitochondrion outer membrane NA 1 PE1 NX_Q9P296 36080 337 8.17 19 Cell membrane NA 7 PE1 NX_Q9P298 11058 99 9.55 17 Membrane NA 2 PE1 NX_Q9P299 23548 210 5.08 17 COPI-coated vesicle membrane;Cytoplasm;Golgi apparatus membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 0 PE1 NX_Q9P2A4 39035 366 4.99 17 Cytoplasm NA 0 PE1 NX_Q9P2B2 98556 879 6.16 1 Endoplasmic reticulum membrane;trans-Golgi network membrane NA 1 PE1 NX_Q9P2B4 70158 639 8.22 1 Cytosol;Cytoskeleton;Nucleolus;Stress fiber NA 0 PE1 NX_Q9P2B7 59475 532 9.12 4 Cytosol;Nucleolus;Cell membrane NA 0 PE1 NX_Q9P2C4 69325 612 9.1 6 Cytoplasmic vesicle;Golgi apparatus;Membrane NA 9 PE1 NX_Q9P2D0 150528 1353 7.79 6 Nucleoplasm;Cytoplasm;Nucleus;Membrane NA 0 PE1 NX_Q9P2D1 335927 2997 5.95 8 Nucleoplasm;Nucleolus;Nucleus Hypogonadotropic hypogonadism 5 with or without anosmia;Idiopathic scoliosis 3;CHARGE syndrome 0 PE1 NX_Q9P2D3 224302 2071 6.77 2 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q9P2D6 169840 1515 5.22 6 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q9P2D7 487478 4265 5.59 3 Flagellum;Cilium axoneme Ciliary dyskinesia, primary, 37;Spermatogenic failure 18 0 PE1 NX_Q9P2D8 295326 2635 5.9 14 Nucleus;Cell membrane;Membrane NA 2 PE1 NX_Q9P2E2 115068 1029 5.38 1 Nucleoplasm;Cytoskeleton;Cilium;Cell membrane NA 0 PE1 NX_Q9P2E3 220227 1918 7.06 20 Mitochondrion NA 0 PE1 NX_Q9P2E5 85948 772 7.94 7 Cytosol;Golgi stack membrane;Nucleoplasm NA 1 PE1 NX_Q9P2E7 112936 1040 4.74 4 Cytoplasmic vesicle;Nucleus;Golgi apparatus;Cell membrane NA 1 PE1 NX_Q9P2E8 45528 410 8.18 2 Golgi apparatus membrane NA 2 PE2 NX_Q9P2E9 152456 1410 8.69 20 Endoplasmic reticulum membrane;Endoplasmic reticulum NA 1 PE1 NX_Q9P2F5 102671 926 8.67 4 Nucleoplasm;Cytosol;Cytoskeleton NA 0 PE1 NX_Q9P2F6 132608 1191 8.26 11 Mitochondrion NA 0 PE1 NX_Q9P2F8 190438 1722 6.31 1 Nucleus;Nucleus membrane;Golgi apparatus NA 0 PE1 NX_Q9P2F9 65547 582 8.75 16 Nucleus NA 0 PE1 NX_Q9P2G1 122002 1089 4.98 7 Cytosol;Cell membrane NA 0 PE1 NX_Q9P2G3 70714 628 6.21 18 Cytosol;Endoplasmic reticulum membrane;Cytoskeleton NA 0 PE1 NX_Q9P2G4 100345 905 6.77 1 Cleavage furrow;Midbody;Nucleus;Centrosome;Cytoskeleton;Spindle pole NA 0 PE1 NX_Q9P2G9 68802 620 6.12 4 Nucleoplasm NA 0 PE1 NX_Q9P2H0 125870 1117 8.95 11 Cytosol;Midbody;Nucleoplasm;Centrosome;Cilium basal body NA 0 PE1 NX_Q9P2H3 88035 777 7.59 3 Cytoplasm;Cilium axoneme;Cilium basal body Short-rib thoracic dysplasia 2 with or without polydactyly 0 PE1 NX_Q9P2H5 113405 1018 5.42 11 Nucleolus;Nucleus NA 0 PE1 NX_Q9P2I0 88487 782 4.98 14 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9P2J2 126580 1179 6.74 1 Synapse;Cell membrane NA 1 PE1 NX_Q9P2J3 69429 617 5.92 9 NA NA 0 PE1 NX_Q9P2J5 134466 1176 6.95 5 Cytosol;Cytoplasm;Nucleus Infantile liver failure syndrome 1 0 PE1 NX_Q9P2J8 99929 865 9.13 17 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9P2J9 59978 529 5.69 16 Mitochondrion matrix;Mitochondrion NA 0 PE1 NX_Q9P2K1 186185 1620 6.3 4 Cytoplasm;Cilium basal body COACH syndrome;Joubert syndrome 9;Meckel syndrome 6 0 PE1 NX_Q9P2K2 93572 825 5.1 14 Mitochondrion;Endoplasmic reticulum lumen;Secreted NA 0 PE1 NX_Q9P2K3 55581 495 8.26 1 Nucleolus;Nucleus NA 0 PE1 NX_Q9P2K5 64122 600 8.86 15 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9P2K6 56868 505 5.52 12 Cytoplasm;Spindle NA 0 PE1 NX_Q9P2K8 186911 1649 5.88 15 Cytosol;Cytoplasm Pulmonary venoocclusive disease 2, autosomal recessive 0 PE1 NX_Q9P2K9 153048 1392 7.5 1 Endoplasmic reticulum membrane;Nucleus membrane;Cytosol;Nucleoplasm;Membrane;Cytoplasmic vesicle membrane NA 12 PE1 NX_Q9P2L0 133547 1181 5.98 2 Centrosome;Cilium axoneme;Cilium basal body Cranioectodermal dysplasia 2;Short-rib thoracic dysplasia 7/20 with polydactyly, digenic;Short-rib thoracic dysplasia 7 with or without polydactyly 0 PE1 NX_Q9P2M1 39780 347 7.99 4 Cytoplasm NA 0 PE1 NX_Q9P2M4 78137 693 6.57 4 Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus;cis-Golgi network;trans-Golgi network NA 0 PE1 NX_Q9P2M7 136386 1197 5.46 1 Cell membrane;Cell junction;Tight junction NA 0 PE1 NX_Q9P2N2 82060 729 7.62 18 Cell junction NA 0 PE1 NX_Q9P2N4 216491 1935 8.13 3 Cytoplasmic vesicle;Endoplasmic reticulum;Extracellular matrix NA 0 PE1 NX_Q9P2N5 118718 1060 9.24 5 Cytoplasm;Nucleus speckle NA 0 PE1 NX_Q9P2N6 95992 904 9.46 2 Nucleus NA 0 PE1 NX_Q9P2N7 73868 655 6.17 X NA NA 0 PE1 NX_Q9P2P1 208366 1898 8.27 14 Cytoplasmic vesicle;Nucleoplasm;Golgi apparatus;Membrane NA 2 PE1 NX_Q9P2P5 175769 1572 5.26 2 Cytoplasm;Spindle;Nucleolus;Endoplasmic reticulum Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 PE1 NX_Q9P2P6 516343 4700 5.91 15 Centriole;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9P2Q2 115458 1039 8.98 10 Adherens junction;Cytoskeleton;Nucleus;Tight junction;Golgi apparatus Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia 0 PE1 NX_Q9P2R3 128399 1169 5.7 17 Endosome membrane;Cytoplasm;Endosome;Early endosome NA 0 PE1 NX_Q9P2R6 172424 1566 7.44 1 Nucleus Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 PE1 NX_Q9P2R7 50317 463 7.05 13 Mitochondrion Mitochondrial DNA depletion syndrome 5 0 PE1 NX_Q9P2S2 184982 1712 5.61 11 Membrane NA 1 PE1 NX_Q9P2S5 51588 460 6.37 1 Nucleoplasm;Cytoplasm;Centrosome;Centriole;Centriolar satellite;Cell junction NA 0 PE1 NX_Q9P2S6 105516 941 6.28 2 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9P2T0 43444 379 9.17 19 Nucleus NA 0 PE1 NX_Q9P2T1 37874 348 6.8 14 Nucleoplasm;Nucleolus NA 0 PE1 NX_Q9P2U7 61613 560 7.2 19 Synaptosome;Synaptic vesicle membrane;Membrane NA 12 PE1 NX_Q9P2U8 64392 582 6.62 11 Synaptosome;Synaptic vesicle membrane;Membrane NA 12 PE1 NX_Q9P2V4 68041 623 8.9 10 Endoplasmic reticulum membrane NA 1 PE1 NX_Q9P2W1 24906 217 7.62 17 Nucleoplasm;Nucleus Ovarian dysgenesis 3 0 PE1 NX_Q9P2W3 7949 67 5.05 16 Cell membrane NA 0 PE1 NX_Q9P2W6 14447 132 9.55 11 Cytoplasm NA 0 PE2 NX_Q9P2W7 38256 334 9.64 11 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus membrane;Secreted NA 1 PE1 NX_Q9P2W9 38674 335 5.36 4 Endoplasmic reticulum membrane;Golgi apparatus membrane;Cell membrane NA 1 PE1 NX_Q9P2X0 10094 92 5.66 1 Endoplasmic reticulum membrane Congenital disorder of glycosylation 1O 2 PE1 NX_Q9P2X3 36476 320 4.86 18 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q9P2X7 7542 70 7.93 9 NA NA 0 PE2 NX_Q9P2X8 7854 69 7.77 9 NA NA 0 PE5 NX_Q9P2Y4 76877 722 9.56 14 Nucleus NA 0 PE1 NX_Q9P2Y5 78151 699 8.56 11 Late endosome;Lysosome;Endoplasmic reticulum;Early endosome;Centromere;Midbody NA 0 PE1 NX_Q9P2Z0 28351 257 8.95 15 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9QC07 91948 812 9.21 1 NA NA 0 PE3 NX_Q9TNN7 40912 366 7.11 6 Membrane NA 1 PE1 NX_Q9TQE0 29826 266 7.67 6 Endoplasmic reticulum membrane;Lysosome membrane;trans-Golgi network membrane;Cell membrane;Endosome membrane;Late endosome membrane NA 1 PE1 NX_Q9UBA6 8344 75 5.78 6 NA NA 0 PE2 NX_Q9UBB4 53489 475 5.12 22 Cytosol;Cytoplasm;Perinuclear region;Cell membrane Spinocerebellar ataxia 10 0 PE1 NX_Q9UBB5 43255 411 10.06 18 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UBB6 78864 729 5.34 1 Cytosol;Dendrite NA 0 PE1 NX_Q9UBB9 96820 837 5.45 22 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q9UBC0 51023 465 9.71 15 Nucleus NA 0 PE1 NX_Q9UBC1 43204 381 6.86 6 Nucleus Rheumatoid arthritis 0 PE1 NX_Q9UBC2 94255 864 4.93 19 Cytoplasmic vesicle;Coated pit;Nucleus;Cell membrane NA 0 PE1 NX_Q9UBC3 95751 853 8.74 20 Nucleoplasm;Cytoplasmic vesicle;Nucleus Immunodeficiency-centromeric instability-facial anomalies syndrome 1;Facioscapulohumeral muscular dystrophy 2 0 PE1 NX_Q9UBC5 118401 1043 9.37 12 NA NA 0 PE1 NX_Q9UBC7 12545 116 5.86 19 Secreted NA 0 PE2 NX_Q9UBC9 18154 169 8.86 1 Cytoplasm NA 0 PE1 NX_Q9UBD0 46742 423 6.63 X Cytoplasm;Nucleus NA 0 PE1 NX_Q9UBD3 12567 114 10.62 1 Secreted NA 0 PE1 NX_Q9UBD5 82254 711 7.54 6 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UBD6 53179 479 5.93 15 Apical cell membrane NA 12 PE1 NX_Q9UBD9 25176 225 8.68 11 Cytoplasmic vesicle;Nucleus;Secreted Crisponi/Cold-induced sweating syndrome 2 0 PE1 NX_Q9UBE0 38450 346 5.17 19 Nucleus NA 0 PE1 NX_Q9UBE8 58283 527 8.35 17 Cytoplasm;Nucleolus;Nucleus;Cell junction NA 0 PE1 NX_Q9UBF1 41163 373 4.26 X Cytosol;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9UBF2 97622 871 5.56 7 Cytosol;COPI-coated vesicle membrane;Golgi apparatus membrane NA 0 PE1 NX_Q9UBF6 12683 113 5.24 3 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UBF8 91379 816 5.86 1 Golgi apparatus;Endomembrane system;Perinuclear region;Rough endoplasmic reticulum membrane;Golgi apparatus membrane;Mitochondrion outer membrane NA 0 PE1 NX_Q9UBF9 55395 498 9.18 5 Cytoskeleton;Sarcolemma;Z line Spheroid body myopathy;Myopathy, myofibrillar, 3;Limb-girdle muscular dystrophy 1A 0 PE1 NX_Q9UBG0 166674 1479 5.54 17 Membrane NA 1 PE1 NX_Q9UBG3 53533 495 5.73 1 Cytoplasm NA 0 PE1 NX_Q9UBG7 56751 517 7.86 20 Nucleus NA 0 PE2 NX_Q9UBH0 16962 155 5.12 2 Secreted Psoriasis 14, pustular 0 PE1 NX_Q9UBH6 81535 696 8.68 1 Cell membrane Basal ganglia calcification, idiopathic, 6 8 PE1 NX_Q9UBI1 22151 195 5.62 10 Cytoplasm;Nucleus NA 0 PE1 NX_Q9UBI4 42968 398 8.18 15 Cytosol;Cell membrane;Cytoplasmic vesicle;Late endosome membrane;Membrane;Membrane raft NA 1 PE1 NX_Q9UBI6 8006 72 9.14 1 Mitochondrion;Cell membrane NA 0 PE1 NX_Q9UBI9 58837 543 8.89 6 NA NA 0 PE1 NX_Q9UBJ2 83233 740 9.04 12 Peroxisome membrane NA 4 PE1 NX_Q9UBK2 91027 798 5.71 4 Nucleoplasm;Cytoplasm;Nucleus;PML body NA 0 PE1 NX_Q9UBK5 9489 93 8.63 19 Cytoplasmic vesicle;Cytoplasm;Cell membrane;Membrane NA 1 PE1 NX_Q9UBK7 26115 228 4.75 2 NA NA 0 PE1 NX_Q9UBK8 80410 725 6.05 5 Cytosol;Nucleoplasm;Cytoskeleton;Cytoplasm Homocystinuria-megaloblastic anemia, cblE complementation type;Neural tube defects, folate-sensitive 0 PE1 NX_Q9UBK9 18246 157 7.02 X Cytosol;Cytoplasm;Spindle pole;Microtubule organizing center;Nucleus;Centrosome NA 0 PE1 NX_Q9UBL0 89196 812 6.51 3 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 NX_Q9UBL3 68723 628 5.45 8 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9UBL6 70294 633 5.97 16 Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9UBL9 51754 471 8.4 12 Cell membrane Deafness, autosomal dominant, 41 2 PE1 NX_Q9UBM1 22134 199 8.89 17 Endoplasmic reticulum membrane;Cytosol;Mitochondrion membrane NA 3 PE1 NX_Q9UBM4 37261 332 5.39 1 Extracellular matrix NA 0 PE1 NX_Q9UBM7 54489 475 8.95 11 Endoplasmic reticulum membrane;Cytosol;Endoplasmic reticulum Smith-Lemli-Opitz syndrome 7 PE1 NX_Q9UBM8 56061 478 8.28 12 Golgi apparatus membrane NA 1 PE2 NX_Q9UBN1 36579 327 9.23 17 Cytosol;Cell membrane NA 4 PE1 NX_Q9UBN4 112101 977 7.81 13 Cell membrane;Membrane NA 6 PE1 NX_Q9UBN6 41823 386 6.19 8 Cytoskeleton;Cell membrane;Membrane NA 1 PE1 NX_Q9UBN7 131419 1215 5.14 X Perikaryon;Nucleoplasm;Cytoplasm;Axon;Dendrite;Nucleus Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 0 PE1 NX_Q9UBP0 67197 616 9.67 2 Endoplasmic reticulum membrane;Nucleoplasm;Endosome;Nucleus membrane;Cytosol;Cytoplasm;Lipid droplet;Endoplasmic reticulum;Centrosome;Spindle;Perinuclear region;Nucleus;Membrane;Cytoskeleton;Midbody Spastic paraplegia 4, autosomal dominant 0 PE1 NX_Q9UBP4 38390 350 4.59 11 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q9UBP5 35808 337 8.31 6 Nucleus NA 0 PE1 NX_Q9UBP6 31471 276 7.19 12 Nucleus NA 0 PE1 NX_Q9UBP8 8969 84 9.51 6 NA NA 0 PE2 NX_Q9UBP9 34490 304 8.04 2 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q9UBQ0 20506 182 6.29 12 Cytoplasmic vesicle;Endosome;Late endosome;Lysosome;Cytosol;Cytoplasm;Membrane;Endosome membrane;Early endosome NA 0 PE1 NX_Q9UBQ5 25060 218 4.81 19 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UBQ6 37466 330 9.08 1 Endoplasmic reticulum membrane;Cytosol;Nucleus;Secreted NA 1 PE1 NX_Q9UBQ7 35668 328 7.01 9 Cytosol;Nucleoplasm Hyperoxaluria primary 2 0 PE1 NX_Q9UBR1 43166 384 6.09 22 Cytoplasm Beta-ureidopropionase deficiency 0 PE1 NX_Q9UBR2 33868 303 6.7 20 Cytoplasmic vesicle;Endoplasmic reticulum;Lysosome NA 0 PE1 NX_Q9UBR4 43358 397 8.47 9 Nucleus Pituitary hormone deficiency, combined, 3 0 PE1 NX_Q9UBR5 17170 152 9.41 16 Cytoplasmic vesicle;Membrane;Secreted NA 3 PE1 NX_Q9UBS0 53455 482 6.91 11 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UBS3 25518 223 8.37 7 Cytosol;Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 NX_Q9UBS4 40514 358 5.81 3 Endoplasmic reticulum lumen;Endoplasmic reticulum Polycystic kidney disease 6 with or without polycystic liver disease 0 PE1 NX_Q9UBS5 108320 961 8.49 6 Dendrite;Postsynaptic cell membrane;Centrosome;Cell membrane;Secreted NA 7 PE1 NX_Q9UBS8 53837 474 4.66 5 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UBS9 139430 1254 4.93 1 Cytosol;Nucleolus;Rough endoplasmic reticulum membrane NA 1 PE1 NX_Q9UBT2 71224 640 5.15 19 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UBT3 24876 224 8.81 8 Secreted NA 0 PE1 NX_Q9UBT6 98809 870 8.42 5 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UBT7 81896 734 6.22 9 Cytoskeleton;Cell membrane NA 0 PE1 NX_Q9UBU2 28447 259 9.34 4 Golgi apparatus;Secreted NA 0 PE1 NX_Q9UBU3 12911 117 5.35 3 Secreted NA 0 PE1 NX_Q9UBU6 44123 413 6.76 6 Golgi apparatus;Membrane NA 3 PE1 NX_Q9UBU7 76858 674 8.03 7 Nucleus NA 0 PE1 NX_Q9UBU8 41474 362 9.29 15 Nucleus speckle;Nucleus NA 0 PE1 NX_Q9UBU9 70182 619 8.74 11 Nucleoplasm;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q9UBV2 88755 794 5.23 14 Endoplasmic reticulum membrane NA 1 PE1 NX_Q9UBV4 40690 365 8.97 7 Extracellular matrix NA 0 PE1 NX_Q9UBV7 37406 327 9.18 5 Golgi stack membrane Ehlers-Danlos syndrome, spondylodysplastic type, 1 1 PE1 NX_Q9UBV8 30381 284 6.1 1 COPII-coated vesicle membrane;Cytosol;Cytoplasm;Endoplasmic reticulum;Cytoplasmic vesicle;Nucleoplasm;Membrane NA 0 PE1 NX_Q9UBW5 61874 565 5.11 12 Cytoplasm;Podosome membrane;Phagocytic cup;Cell cortex NA 0 PE1 NX_Q9UBW7 154911 1377 5.95 13 Nucleoplasm;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q9UBW8 30277 275 8.33 12 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UBX0 21409 185 9.01 3 Nucleus Septooptic dysplasia;Pituitary hormone deficiency, combined, 5;Growth hormone deficiency with pituitary anomalies 0 PE1 NX_Q9UBX1 53366 484 8.52 11 Cytoplasmic vesicle;Cytosol;Cell membrane;Lysosome Ceroid lipofuscinosis, neuronal, 13 0 PE1 NX_Q9UBX2 44940 424 8.72 4 Nucleus Facioscapulohumeral muscular dystrophy 1 0 PE1 NX_Q9UBX3 31282 287 9.62 17 Nucleoplasm;Mitochondrion;Mitochondrion inner membrane NA 6 PE1 NX_Q9UBX5 50180 448 4.58 14 Secreted;Cell membrane;Extracellular matrix Macular degeneration, age-related, 3;Neuropathy, hereditary, with or without age-related macular degeneration;Cutis laxa, autosomal recessive, 1A;Cutis laxa, autosomal dominant, 2 0 PE1 NX_Q9UBX7 31059 282 9.23 19 Golgi apparatus;Secreted NA 0 PE1 NX_Q9UBX8 44914 382 8.59 18 Golgi stack membrane NA 1 PE1 NX_Q9UBY0 91520 812 9.2 2 Cell junction;Membrane NA 10 PE1 NX_Q9UBY5 40128 353 9.53 1 Cell membrane NA 7 PE1 NX_Q9UBY8 32787 286 8.47 8 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Endoplasmic reticulum Ceroid lipofuscinosis, neuronal, 8;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 5 PE1 NX_Q9UBY9 18611 170 6.04 1 Nucleoplasm;Cytoplasm;Nucleus;Cajal body NA 0 PE1 NX_Q9UBZ4 57401 518 8.65 X Cytoplasmic vesicle;Mitochondrion;Nucleolus;Nucleus;Cytoplasm NA 0 PE1 NX_Q9UBZ9 138248 1251 8.76 2 Cytosol;Nucleus NA 0 PE1 NX_Q9UC06 50802 446 8.68 22 Cytosol;Nucleus NA 0 PE1 NX_Q9UC07 65761 566 9.13 19 Nucleus NA 0 PE1 NX_Q9UD57 32381 310 9.7 10 Nucleus NA 0 PE1 NX_Q9UD71 22963 204 4.48 17 Cytoplasm NA 0 PE1 NX_Q9UDR5 102132 926 6.18 7 Cytoplasmic vesicle;Mitochondrion Hyperlysinemia, 1;2,4-dienoyl-CoA reductase deficiency 0 PE1 NX_Q9UDT6 115837 1046 6.29 7 Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q9UDV6 55447 495 6.97 7 Nucleus NA 0 PE1 NX_Q9UDV7 74295 671 5.62 7 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UDW1 7308 63 9.45 22 Mitochondrion inner membrane NA 0 PE1 NX_Q9UDW3 19971 170 8.85 22 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UDX3 46644 406 6.16 22 Centrosome NA 0 PE1 NX_Q9UDX4 46048 400 5.79 22 NA NA 0 PE1 NX_Q9UDX5 18010 166 9.33 22 Mitochondrion;Mitochondrion inner membrane NA 3 PE1 NX_Q9UDY2 133958 1190 6.96 9 Nucleoplasm;Cell membrane;Cytosol;Nucleus;Adherens junction;Cell junction;Tight junction Cholestasis, progressive familial intrahepatic, 4;Familial hypercholanemia 0 PE1 NX_Q9UDY4 37807 337 8.65 1 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA 0 PE1 NX_Q9UDY6 55037 481 5.69 6 Cytoplasm NA 0 PE1 NX_Q9UDY8 92272 824 5.47 18 Cytosol;Perinuclear region;Nucleolus;Nucleus Immunodeficiency 12 0 PE1 NX_Q9UEE5 46558 414 5.08 7 Nucleus speckle;Nucleus;Cell membrane NA 0 PE1 NX_Q9UEE9 33593 299 4.77 16 Cytoplasmic vesicle;Kinetochore;Nucleoplasm NA 0 PE1 NX_Q9UEF7 116181 1012 8.06 13 Apical cell membrane;Cell membrane;Secreted Tumoral calcinosis, hyperphosphatemic, familial, 3 1 PE1 NX_Q9UEG4 96620 869 8.24 16 Nucleus;Golgi apparatus NA 0 PE1 NX_Q9UER7 81373 740 4.8 6 PML body;Nucleolus;Nucleoplasm;Cytoplasm;Nucleus;Centromere NA 0 PE1 NX_Q9UET6 36079 329 5.42 X Cytosol;Cytoplasm Mental retardation, X-linked 44 0 PE1 NX_Q9UEU0 26688 232 9.02 14 Lysosome membrane;Golgi apparatus;Early endosome membrane;Cytoplasmic vesicle;Cytoplasmic granule;Late endosome membrane;Recycling endosome membrane NA 1 PE1 NX_Q9UEU5 12764 116 4.23 X NA NA 0 PE1 NX_Q9UEW3 52658 520 8.95 2 Cytoplasmic vesicle;Golgi apparatus;Cell membrane NA 1 PE1 NX_Q9UEW8 59474 545 5.92 2 Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9UEY8 79155 706 5.92 10 Cytoskeleton;Cell membrane Cerebral palsy, spastic quadriplegic 3 0 PE1 NX_Q9UF02 30903 275 6.94 17 Postsynaptic density;Membrane NA 4 PE2 NX_Q9UF11 27186 243 7 11 Cytoplasm;Membrane NA 0 PE1 NX_Q9UF12 58871 536 8.94 19 Nucleoplasm;Cytosol NA 0 PE1 NX_Q9UF33 116379 1036 6.55 3 Nucleoplasm;Membrane NA 1 PE1 NX_Q9UF47 22496 199 5.16 8 Cytoplasmic vesicle;Membrane NA 0 PE1 NX_Q9UF56 75695 701 8.49 5 Cytoplasm;Nucleus NA 0 PE1 NX_Q9UF83 59412 564 13.06 13 NA NA 0 PE1 NX_Q9UFB7 82760 747 5.52 3 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UFC0 70861 647 6.88 7 Kinetochore;Nucleolus;Telomere;Cytoplasmic vesicle;Nucleus;Centromere;Centrosome NA 0 PE1 NX_Q9UFD9 180717 1639 6.46 22 Cytoskeleton NA 0 PE1 NX_Q9UFE4 109901 941 6.1 3 Mitochondrion;Cilium axoneme Ciliary dyskinesia, primary, 14 0 PE1 NX_Q9UFF9 33540 292 4.69 5 Cytoplasm;Nucleus NA 0 PE1 NX_Q9UFG5 12878 118 5.03 19 Cytoskeleton NA 0 PE1 NX_Q9UFH2 509313 4462 5.52 17 Nucleoplasm;Cilium axoneme;Cell membrane NA 0 PE1 NX_Q9UFN0 28467 247 9.21 9 Cytosol NA 0 PE1 NX_Q9UFP1 63637 575 7.1 3 Cytoplasmic vesicle;Secreted NA 0 PE1 NX_Q9UFV1 16280 150 9.33 17 NA NA 0 PE2 NX_Q9UFV3 14889 132 10.08 15 NA NA 0 PE5 NX_Q9UFW8 18820 167 9.14 3 Nucleus NA 0 PE1 NX_Q9UG01 197576 1749 5.78 2 Cytoplasmic vesicle;Cilium Short-rib thoracic dysplasia 10 with or without polydactyly;Retinitis pigmentosa 71 0 PE1 NX_Q9UG22 38017 337 8.6 7 Cytoplasm;Lipid droplet;Membrane NA 2 PE1 NX_Q9UG56 46672 409 9.51 22 Cytosol;Mitochondrion inner membrane;Golgi apparatus NA 1 PE1 NX_Q9UG63 71290 623 6.95 7 Cytosol NA 0 PE1 NX_Q9UGB4 5874 50 4.33 20 NA NA 0 PE4 NX_Q9UGB7 33010 285 5.5 22 Cytoplasm NA 0 PE1 NX_Q9UGC6 24359 210 5.56 6 Cytoplasmic vesicle;Synaptosome;Cytoplasm;Nucleus;Membrane NA 0 PE1 NX_Q9UGC7 43600 380 8.36 6 Mitochondrion NA 0 PE1 NX_Q9UGF5 35892 321 8.9 6 Cell membrane NA 7 PE2 NX_Q9UGF6 36057 321 8.79 6 Cell membrane NA 7 PE2 NX_Q9UGF7 35791 316 8.86 6 Cell membrane NA 7 PE2 NX_Q9UGH3 70337 650 7.83 20 Cytoplasmic vesicle;Golgi apparatus;Cell membrane NA 12 PE1 NX_Q9UGI0 80967 708 5.48 10 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q9UGI6 81385 731 9.12 1 Nucleoplasm;Membrane NA 6 PE1 NX_Q9UGI8 47996 421 7.96 7 Cytosol;Cytoplasm;Focal adhesion;Cell junction;Cell membrane NA 0 PE1 NX_Q9UGI9 54258 489 5.59 2 NA NA 0 PE1 NX_Q9UGJ0 63066 569 9.37 7 Nucleoplasm Wolff-Parkinson-White syndrome;Glycogen storage disease of heart lethal congenital;Cardiomyopathy, familial hypertrophic 6 0 PE1 NX_Q9UGJ1 76089 667 6.17 15 Centrosome Microcephaly and chorioretinopathy, autosomal recessive, 3 0 PE1 NX_Q9UGK3 44894 403 8.34 19 Cytoplasm NA 0 PE1 NX_Q9UGK8 48981 458 6.01 11 Nucleoplasm;Cytosol;Cytoplasmic vesicle;Nucleus;Cytoplasm NA 0 PE1 NX_Q9UGL1 175658 1544 6.29 1 Nucleus NA 0 PE1 NX_Q9UGL9 9736 99 9.13 1 NA NA 0 PE1 NX_Q9UGM1 54807 479 6.04 4 Postsynaptic cell membrane;Cell membrane NA 4 PE1 NX_Q9UGM3 260735 2413 5.18 10 Secreted;Microtubule organizing center Glioma 0 PE1 NX_Q9UGM5 42055 382 6.46 3 Secreted NA 0 PE1 NX_Q9UGM6 40147 360 9.31 1 Mitochondrion;Mitochondrion matrix;Cell membrane Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 0 PE1 NX_Q9UGN4 33201 299 5.35 17 Cell membrane NA 1 PE1 NX_Q9UGN5 66206 583 9.02 14 Nucleolus;Nucleus NA 0 PE1 NX_Q9UGP4 72190 676 6.2 3 Cytoplasm;Focal adhesion;P-body;Nucleus;Adherens junction NA 0 PE1 NX_Q9UGP5 63482 575 7.96 10 Nucleus;Golgi apparatus NA 0 PE1 NX_Q9UGP8 87997 760 5.21 6 Endoplasmic reticulum membrane;Endoplasmic reticulum Polycystic liver disease 2 with or without kidney cysts 3 PE1 NX_Q9UGQ2 18470 172 5.37 9 Nucleoplasm;Membrane NA 3 PE1 NX_Q9UGQ3 54539 507 8.9 9 Cell membrane NA 12 PE1 NX_Q9UGR2 109858 977 6.94 22 Cytosol;Nucleus NA 0 PE1 NX_Q9UGT4 90208 822 5.84 22 Cell membrane NA 1 PE1 NX_Q9UGU0 211771 1960 9.16 22 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UGU5 65712 601 9.35 22 Nucleus NA 0 PE1 NX_Q9UGV2 41409 375 5.12 20 NA NA 0 PE1 NX_Q9UGY1 24663 213 10.22 22 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 NX_Q9UH03 40704 358 6.74 22 Nucleoplasm;Cytoplasm;Cytoskeleton;Synapse;Cell membrane NA 0 PE1 NX_Q9UH17 45924 382 5.74 22 Nucleus NA 0 PE1 NX_Q9UH36 38573 339 5.31 22 Cytosol NA 0 PE1 NX_Q9UH62 42501 379 8.6 X Golgi apparatus;Cytosol;Cytoplasm;Mitochondrion outer membrane;Nucleoplasm;Nucleus NA 1 PE1 NX_Q9UH64 8851 79 11.58 9 NA NA 0 PE4 NX_Q9UH65 68998 585 5.66 11 Lamellipodium;Cytoskeleton;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 NX_Q9UH73 64464 591 9 5 Nucleus NA 0 PE1 NX_Q9UH77 64970 587 5.29 5 Cytosol;Cytoskeleton Pseudohypoaldosteronism 2D 0 PE1 NX_Q9UH90 79782 709 6.69 3 Cytoplasm NA 0 PE1 NX_Q9UH92 33300 298 8.18 17 Cytosol;Cytoplasm;Nucleus;Nucleus membrane;Nucleoplasm NA 0 PE1 NX_Q9UH99 80311 717 6.27 22 Endosome membrane;Nucleus inner membrane;Nucleus envelope;Nucleus membrane NA 1 PE1 NX_Q9UHA2 8835 77 5.62 3 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 NX_Q9UHA3 19621 163 9.99 15 Nucleolus;Nucleus NA 0 PE1 NX_Q9UHA4 13623 124 6.72 4 Late endosome membrane NA 0 PE1 NX_Q9UHA7 17684 158 5.89 2 Secreted NA 0 PE1 NX_Q9UHB4 66763 597 5.95 9 Cytosol;Perinuclear region;Nucleus;Cytoskeleton NA 0 PE1 NX_Q9UHB6 85226 759 6.41 12 Stress fiber;Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Cytoskeleton NA 0 PE1 NX_Q9UHB7 127459 1163 9.33 5 Nucleolus;Nucleus CHOPS syndrome 0 PE1 NX_Q9UHB9 70730 627 8.75 17 Cytosol;Cytoplasm;Focal adhesion;Nucleolus NA 0 PE1 NX_Q9UHC1 163711 1453 6.33 14 Nucleus Hereditary non-polyposis colorectal cancer 7;Colorectal cancer 0 PE1 NX_Q9UHC3 58905 531 6.73 7 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm NA 2 PE1 NX_Q9UHC6 148167 1331 6.12 7 Paranodal septate junction;Axon;Membrane Autism 15;Pitt-Hopkins-like syndrome 1 1 PE1 NX_Q9UHC7 53349 482 5.05 7 NA NA 0 PE1 NX_Q9UHC9 148728 1359 5.95 7 Cytoplasmic vesicle membrane;Apical cell membrane;Cell membrane NA 13 PE1 NX_Q9UHD0 20452 177 7.62 1 Secreted NA 0 PE1 NX_Q9UHD1 37490 332 8.1 11 Cytosol;Cytoplasm NA 0 PE1 NX_Q9UHD2 83642 729 6.32 12 Nucleoplasm;Cytoplasm Glaucoma 1, open angle, P;Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;Encephalopathy, acute, infection-induced, herpes-specific, 8 0 PE1 NX_Q9UHD4 24678 219 9.01 14 NA NA 0 PE1 NX_Q9UHD8 65401 586 9.06 17 Cytoskeleton Hereditary neuralgic amyotrophy 0 PE1 NX_Q9UHD9 65696 624 5.15 X Cytosol;Cytoplasm;Cell membrane;Nucleus;Autophagosome;Membrane Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia 0 PE1 NX_Q9UHE5 25619 227 9.08 2 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE1 NX_Q9UHE8 39851 339 9.28 7 Endosome membrane NA 6 PE1 NX_Q9UHF0 13438 121 6.74 12 Cytoplasmic vesicle;Secreted Hypogonadotropic hypogonadism 10 with or without anosmia 0 PE1 NX_Q9UHF1 29618 273 8.58 9 Extracellular space NA 0 PE1 NX_Q9UHF3 25366 227 9.39 2 Endoplasmic reticulum membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE5 NX_Q9UHF4 62485 553 4.78 6 Cytosol;Membrane NA 1 PE1 NX_Q9UHF5 20437 180 9.46 5 Secreted NA 0 PE1 NX_Q9UHF7 141521 1281 7.53 8 Nucleoplasm;Nucleus Tricho-rhino-phalangeal syndrome 3;Tricho-rhino-phalangeal syndrome 2;Tricho-rhino-phalangeal syndrome 1 0 PE1 NX_Q9UHG0 52834 476 5.84 6 Cytosol;Cilium;Cilium axoneme;Kinocilium;Cytoskeleton;Microtubule organizing center;Spindle Deafness, autosomal recessive, 66;Sclerosing cholangitis, neonatal;Nephronophthisis 19;Dyslexia 2 0 PE1 NX_Q9UHG2 27372 260 6.22 X Cytoplasmic vesicle;trans-Golgi network;Secreted NA 0 PE1 NX_Q9UHG3 56640 505 5.8 2 Lysosome NA 0 PE1 NX_Q9UHH9 49186 426 6.37 3 Nucleolus;Nucleus;Cell junction NA 0 PE1 NX_Q9UHI5 58382 535 5.69 14 Cytoplasm;Basolateral cell membrane NA 12 PE1 NX_Q9UHI6 92241 824 6.49 1 Cytosol;Nucleoplasm;Nucleus;Gem;Cytoplasm NA 0 PE1 NX_Q9UHI7 64831 598 6.16 5 Cell membrane NA 12 PE1 NX_Q9UHI8 105358 967 6.4 21 Extracellular matrix NA 0 PE1 NX_Q9UHJ3 98141 866 5.86 3 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UHJ6 51491 478 6.35 17 Nucleoplasm;Nucleus speckle;Cytoplasm Sedoheptulokinase deficiency 0 PE1 NX_Q9UHJ9 29400 254 8.47 11 Endoplasmic reticulum membrane;Cytoskeleton;Golgi apparatus membrane Hyperphosphatasia with mental retardation syndrome 3 5 PE1 NX_Q9UHK0 56300 495 9.21 13 Nucleolus;Nucleus NA 0 PE1 NX_Q9UHK6 42387 382 6.07 5 Mitochondrion;Cytoplasmic vesicle;Cell membrane;Peroxisome Congenital bile acid synthesis defect 4;Alpha-methylacyl-CoA racemase deficiency 0 PE1 NX_Q9UHL0 54692 483 5.89 11 Cytoplasm;Nucleus NA 0 PE1 NX_Q9UHL3 34712 310 4.68 5 NA NA 0 PE2 NX_Q9UHL4 54341 492 5.91 9 Cytoplasmic vesicle;Lysosome;Golgi apparatus;Secreted NA 0 PE1 NX_Q9UHL9 106057 959 6.45 7 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q9UHM6 52635 478 9.35 10 Cell membrane NA 7 PE1 NX_Q9UHN1 54911 485 8.64 17 Mitochondrion;Nucleus Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 0 PE1 NX_Q9UHN6 154374 1383 8.41 9 Cytoplasmic vesicle;Cytosol;Cell membrane NA 1 PE1 NX_Q9UHP3 122218 1055 5.22 21 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UHP6 38592 348 6.43 22 Nucleolus NA 0 PE1 NX_Q9UHP7 21849 191 6.37 12 Nucleoplasm;Endoplasmic reticulum;Golgi apparatus;Cell membrane NA 1 PE1 NX_Q9UHP9 9559 88 9.21 X Cell membrane Deafness, X-linked, 4 0 PE1 NX_Q9UHQ1 51156 456 6.63 17 Nucleolus;Nucleus NA 0 PE1 NX_Q9UHQ4 28320 241 9.55 7 Endoplasmic reticulum membrane;Cytosol NA 3 PE1 NX_Q9UHQ7 12749 104 5.35 X Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UHQ9 34095 305 9.41 1 Cytosol;Mitochondrion;Nucleolus;Membrane NA 1 PE1 NX_Q9UHR4 56883 511 8.82 7 Cytosol;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q9UHR5 33870 308 4.74 17 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UHR6 42884 403 5.69 11 NA NA 0 PE1 NX_Q9UHT4 8314 67 10.1 7 NA NA 0 PE5 NX_Q9UHU1 4899 43 8.16 11 NA NA 0 PE5 NX_Q9UHV2 24704 236 4.29 19 Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q9UHV5 73265 662 5.94 17 Cytoskeleton;Nucleus NA 0 PE1 NX_Q9UHV7 239297 2174 5.4 17 Nucleus NA 0 PE1 NX_Q9UHV8 16119 139 5.43 19 Cytoplasm;Nucleus matrix NA 0 PE1 NX_Q9UHV9 16648 154 6.2 1 Mitochondrion;Cytoplasm;Nucleus;Cytosol NA 0 PE1 NX_Q9UHW5 32761 284 4.38 12 Cytosol;Nucleus speckle NA 0 PE1 NX_Q9UHW9 127617 1150 6.64 15 Cytosol;Cytoplasmic vesicle;Basolateral cell membrane Agenesis of the corpus callosum, with peripheral neuropathy 12 PE1 NX_Q9UHX1 59875 559 5.19 8 Nucleoplasm;Cytoplasm;Nucleus Verheij syndrome 0 PE1 NX_Q9UHX3 90472 823 6.47 19 Cytoplasmic vesicle;Ruffle membrane;Cell membrane Vibratory urticaria 7 PE1 NX_Q9UHY1 59845 535 5.02 2 Cytosol;Lamellipodium;Cell cortex;Endomembrane system NA 0 PE1 NX_Q9UHY7 28933 261 4.66 4 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UHY8 39666 353 4.52 2 Cytosol;Nucleolus;Golgi apparatus NA 0 PE1 NX_Q9UI08 44620 416 8.91 14 Cytosol;Cytoplasmic vesicle;Cytoskeleton;Stress fiber;Lamellipodium NA 0 PE1 NX_Q9UI09 17114 145 9.63 12 Mitochondrion;Mitochondrion inner membrane Leigh syndrome 0 PE1 NX_Q9UI10 57557 523 9.45 2 Cytoskeleton;Nucleus membrane Leukodystrophy with vanishing white matter 0 PE1 NX_Q9UI12 55883 483 6.07 8 Cytosol;Cytoskeleton NA 0 PE1 NX_Q9UI14 20648 185 6.83 19 Nucleolus;Nucleus membrane;Golgi apparatus;Cytoplasm;Cell membrane;Synaptic vesicle NA 4 PE1 NX_Q9UI15 22473 199 6.84 3 NA NA 0 PE1 NX_Q9UI17 96811 866 7.31 5 Mitochondrion DMGDH deficiency 0 PE1 NX_Q9UI25 6971 63 6.23 16 NA NA 0 PE5 NX_Q9UI26 112535 975 5.14 5 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9UI30 14199 125 5.21 11 Nucleoplasm;Perinuclear region;Nucleus;Cytoskeleton NA 0 PE1 NX_Q9UI32 66323 602 6.9 12 Mitochondrion NA 0 PE1 NX_Q9UI33 204922 1791 8.32 3 Cell membrane Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, 7 24 PE1 NX_Q9UI36 78562 758 8.75 13 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9UI38 43088 385 8.58 3 Endoplasmic reticulum NA 0 PE1 NX_Q9UI40 73664 661 5.71 9 Membrane NA 11 PE1 NX_Q9UI42 47351 421 6.23 7 Cytosol;Nucleoplasm;Centrosome;Secreted NA 0 PE1 NX_Q9UI43 27424 246 9.6 7 Mitochondrion NA 0 PE1 NX_Q9UI46 79283 699 6.4 9 Cilium;Cilium axoneme Kartagener syndrome;Ciliary dyskinesia, primary, 1 0 PE1 NX_Q9UI47 99809 895 5.83 10 Cytoskeleton Arrhythmogenic right ventricular dysplasia, familial, 13 0 PE1 NX_Q9UI54 6387 55 10.3 20 NA NA 0 PE5 NX_Q9UI72 8249 69 9.35 5 NA NA 0 PE5 NX_Q9UI95 24334 211 6.05 1 Nucleolus;Cytosol;Cytoplasm;Nucleus;Spindle;Chromosome Fanconi anemia, complementation group V 0 PE1 NX_Q9UIA0 45672 394 6.08 22 Cell membrane NA 0 PE1 NX_Q9UIA9 123907 1087 5.91 8 Cytoplasm;Nuclear pore complex;Nucleus NA 0 PE1 NX_Q9UIB8 38782 345 6.61 1 Cell membrane NA 1 PE1 NX_Q9UIC8 38379 334 5.73 16 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9UID3 86042 782 6.06 11 Cytoplasmic vesicle;Recycling endosome;Nucleolus;trans-Golgi network;Golgi apparatus NA 0 PE1 NX_Q9UID6 56054 485 5.3 3 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UIE0 54542 474 8.75 19 Mitochondrion;Nucleus NA 0 PE1 NX_Q9UIF3 49672 430 5.39 1 Cytoskeleton;Flagellum axoneme;Cilium axoneme;Microtubule organizing center NA 0 PE1 NX_Q9UIF7 60069 546 8.99 1 Mitochondrion;Nucleus Gastric cancer;Familial adenomatous polyposis 2 0 PE1 NX_Q9UIF8 240459 2168 6.13 2 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UIF9 211198 1905 6.22 12 Nucleus speckle;Nucleolus NA 0 PE1 NX_Q9UIG0 170903 1483 8.7 7 Nucleus NA 0 PE1 NX_Q9UIG4 15101 136 4.48 6 Secreted NA 0 PE2 NX_Q9UIG5 16580 152 5.93 6 Nucleus NA 0 PE2 NX_Q9UIG8 76553 710 6.34 15 Cell membrane NA 12 PE1 NX_Q9UIH9 43992 416 8.48 3 Nucleus NA 0 PE1 NX_Q9UII2 12249 106 9.34 1 Mitochondrion NA 0 PE1 NX_Q9UII4 116852 1024 7.71 4 Perinuclear region NA 0 PE1 NX_Q9UII5 90673 783 9.43 7 Nucleus NA 0 PE1 NX_Q9UII6 22149 198 9.27 10 NA NA 0 PE1 NX_Q9UIJ5 42022 367 8.7 8 Membrane NA 4 PE1 NX_Q9UIJ7 25565 227 9.15 9 Mitochondrion matrix;Mitochondrion NA 0 PE1 NX_Q9UIK4 42898 370 6.45 15 Autophagosome lumen;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus NA 0 PE1 NX_Q9UIK5 41428 374 5.01 2 Cytoskeleton;Membrane;Secreted NA 1 PE1 NX_Q9UIL1 18045 159 9 4 Cytosol;Nucleoplasm;Golgi apparatus membrane;Golgi apparatus;trans-Golgi network NA 0 PE1 NX_Q9UIL4 40686 384 8.61 6 Centrosome NA 0 PE2 NX_Q9UIL8 37582 331 7.87 13 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_Q9UIM3 38176 349 5.38 6 Nucleoplasm NA 0 PE1 NX_Q9UIQ6 117349 1025 5.5 5 Cell membrane;Secreted NA 1 PE1 NX_Q9UIR0 50436 455 4.96 6 Membrane Sarcoidosis 2 1 PE2 NX_Q9UIS9 66607 605 9.32 18 Nucleus speckle;Nucleoplasm;Cytoplasmic vesicle;Nucleus;Nucleus matrix;Chromosome NA 0 PE1 NX_Q9UIU6 82933 781 5.45 14 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UIV1 32745 285 4.77 8 P-body;Nucleus NA 0 PE1 NX_Q9UIV8 44276 391 5.48 18 Cytosol;Cytoplasm;Nucleus speckle NA 0 PE1 NX_Q9UIW0 30874 290 9.56 2 Nucleus speckle;Nucleus NA 0 PE1 NX_Q9UIW2 211067 1896 6.49 3 Cytosol;Nucleus;Cell membrane NA 1 PE1 NX_Q9UIX4 57913 513 5.94 20 Cytoplasmic vesicle;Cell membrane NA 6 PE1 NX_Q9UIY3 33893 292 6.01 6 NA NA 0 PE1 NX_Q9UJ04 45126 414 8.8 6 NA NA 0 PE1 NX_Q9UJ14 70467 662 4.96 20 Cytoplasmic vesicle;Nucleus;Membrane NA 1 PE1 NX_Q9UJ37 41939 374 9.38 17 Golgi apparatus membrane NA 1 PE1 NX_Q9UJ41 79371 708 6.42 7 Cytosol;Cytoplasm;Recycling endosome;Nucleolus;Early endosome NA 0 PE1 NX_Q9UJ42 39787 338 8.84 3 Cell membrane NA 7 PE2 NX_Q9UJ55 132822 1249 9.55 15 Cytoplasm;Nucleus;Early endosome Schaaf-Yang syndrome 0 PE1 NX_Q9UJ68 26132 235 8.22 8 Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Membrane;Mitochondrion NA 0 PE1 NX_Q9UJ70 37376 344 5.82 2 Cytosol;Nucleus NA 0 PE1 NX_Q9UJ71 36725 328 8.45 2 Cytosol;Membrane Birbeck granule deficiency 1 PE1 NX_Q9UJ72 37278 324 5.13 4 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 NX_Q9UJ78 74817 669 8.5 13 Nucleus NA 0 PE1 NX_Q9UJ83 63729 578 7.08 3 Peroxisome NA 0 PE1 NX_Q9UJ90 14993 142 5.9 X Cytosol;Membrane Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis 1 PE1 NX_Q9UJ94 16537 153 6.04 21 NA NA 0 PE5 NX_Q9UJ96 51240 466 9.33 18 Membrane NA 6 PE1 NX_Q9UJ98 139034 1225 5.23 7 Centromere;Nucleus;Chromosome Premature ovarian failure 8 0 PE1 NX_Q9UJ99 89091 828 4.62 20 Cell membrane NA 1 PE1 NX_Q9UJA2 32593 301 9.73 20 Mitochondrion inner membrane NA 5 PE1 NX_Q9UJA3 93697 840 7.82 20 Nucleoplasm;Nucleus;Chromosome Premature ovarian failure 10 0 PE1 NX_Q9UJA5 55799 497 7.18 20 Nucleus NA 0 PE1 NX_Q9UJA9 54666 477 5.94 6 Secreted;Membrane NA 1 PE1 NX_Q9UJC3 84648 728 5.09 1 Cytoplasm;Cytoskeleton NA 0 PE1 NX_Q9UJC5 12326 107 6.3 6 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UJD0 32796 308 9.38 1 Mitochondrion;Synapse;Nucleolus NA 0 PE1 NX_Q9UJF2 128558 1139 8.52 1 Focal adhesion;Cell membrane NA 0 PE1 NX_Q9UJG1 24086 213 7.66 X Cytoplasmic vesicle;Endoplasmic reticulum membrane;Golgi apparatus membrane;Nucleoplasm NA 2 PE1 NX_Q9UJH8 31207 293 8.47 16 Cytosol;Nucleoplasm;Nucleus membrane;Secreted NA 0 PE1 NX_Q9UJJ7 34756 312 6.6 16 Cytosol;Nucleus;Cell junction;Golgi apparatus NA 0 PE1 NX_Q9UJJ9 33974 305 6.47 16 Cytosol;Endoplasmic reticulum;Golgi apparatus;Secreted Mucolipidosis type III complementation group C 0 PE1 NX_Q9UJK0 33596 312 6.48 16 Cytosol;Golgi apparatus NA 0 PE1 NX_Q9UJL9 61481 534 9.23 1 Cytosol;Nucleus NA 0 PE1 NX_Q9UJM3 50560 462 8.38 1 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9UJM8 40924 370 8.2 20 Peroxisome NA 0 PE1 NX_Q9UJN7 40659 358 8.94 6 Nucleus NA 0 PE1 NX_Q9UJP4 66617 597 5.17 1 Spindle;Centrosome NA 0 PE1 NX_Q9UJQ1 31472 280 5.99 20 Synaptic vesicle membrane;Cytosol;Early endosome membrane;Cell membrane;Microtubule organizing center;Endosome membrane;Dendrite;Endoplasmic reticulum-Golgi intermediate compartment membrane;Growth cone membrane;Spindle;Cytoplasmic vesicle membrane;Recycling endosome NA 1 PE1 NX_Q9UJQ4 112231 1053 7.2 20 Nucleoplasm;Cytoplasm;Nucleus Duane-radial ray syndrome;Oculootoradial syndrome 0 PE1 NX_Q9UJQ7 17663 156 9.33 20 NA NA 0 PE2 NX_Q9UJS0 74176 675 8.79 7 Mitochondrion;Mitochondrion inner membrane Citrullinemia 2;Cholestasis, neonatal intrahepatic, caused by citrin deficiency 6 PE1 NX_Q9UJT0 52932 475 6.17 6 Centrosome NA 0 PE1 NX_Q9UJT1 51034 453 6.35 17 Cytosol;Cytoplasm;Centriole;Nucleoplasm;Nucleus;Cilium NA 0 PE1 NX_Q9UJT2 65050 592 5.7 19 Centriole NA 0 PE1 NX_Q9UJT9 54575 491 8.67 5 Centrosome NA 0 PE1 NX_Q9UJU2 44201 399 6.9 4 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UJU3 105842 913 8.6 19 Nucleus;Centrosome NA 0 PE1 NX_Q9UJU5 47630 478 6.01 1 Nucleus Autoimmune disease 1 0 PE1 NX_Q9UJU6 48207 430 5.02 7 Synapse;Ruffle;Cytosol;Cell projection;Cell cortex;Cell membrane;Nucleoplasm;Golgi apparatus membrane;Clathrin-coated vesicle membrane;Early endosome;Lamellipodium;Cytoskeleton;Podosome NA 0 PE1 NX_Q9UJV3 83210 735 7.24 X Cytoplasm;Cytoskeleton Mental retardation, X-linked 101 0 PE1 NX_Q9UJV8 39556 347 9.57 8 Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_Q9UJV9 69838 622 6.4 5 Nucleus Myeloproliferative/lymphoproliferative neoplasms, familial 0 PE1 NX_Q9UJW0 52337 460 7.1 5 Stress fiber;Cell cortex;Nucleus;Sarcomere;Cytoskeleton;Centrosome NA 0 PE1 NX_Q9UJW2 54605 476 8.31 6 Basement membrane NA 0 PE1 NX_Q9UJW3 43583 386 5.59 21 Nucleus speckle;Nucleus NA 0 PE1 NX_Q9UJW7 93707 825 8.88 19 Cytoplasmic vesicle;Nucleus;Cell membrane NA 0 PE1 NX_Q9UJW8 79111 692 8.04 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UJW9 21769 196 4.56 19 Nucleolus;Nucleus NA 0 PE1 NX_Q9UJX0 60849 560 7.01 16 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9UJX2 68834 597 6.59 5 Cytoplasm;Nucleus NA 0 PE1 NX_Q9UJX3 66855 599 5.45 12 Nucleoplasm;Cytosol NA 0 PE1 NX_Q9UJX4 85077 755 6.4 12 Nucleoplasm NA 0 PE1 NX_Q9UJX5 92116 808 5.36 4 Cytoskeleton NA 0 PE1 NX_Q9UJX6 93828 822 5.12 9 Nucleoplasm NA 0 PE1 NX_Q9UJY1 21604 196 5 12 Cytosol;Cytoplasm;Nucleus Charcot-Marie-Tooth disease 2L;Neuronopathy, distal hereditary motor, 2A 0 PE1 NX_Q9UJY4 67150 613 6.13 16 Endosome membrane;Early endosome membrane;trans-Golgi network membrane;Golgi apparatus NA 0 PE1 NX_Q9UJY5 70384 639 5.18 22 Nucleoplasm;Cytoplasmic vesicle;Early endosome membrane;Endosome membrane;trans-Golgi network membrane NA 0 PE1 NX_Q9UJZ1 38534 356 6.87 9 Cytosol;Cell membrane;Mitochondrion inner membrane;Mitochondrion intermembrane space;Mitochondrion;Cytoskeleton;Membrane raft NA 0 PE1 NX_Q9UK00 17468 162 5.36 3 Cytosol;Membrane NA 1 PE2 NX_Q9UK05 47320 429 6.03 10 Secreted Telangiectasia, hereditary hemorrhagic, 5 0 PE1 NX_Q9UK08 7841 70 6.55 19 Cell membrane NA 0 PE1 NX_Q9UK10 82471 706 9.18 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UK11 55763 482 9.04 19 Mitochondrion;Nucleus NA 0 PE1 NX_Q9UK12 52484 451 8.96 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UK13 71197 617 8.8 19 Nucleus NA 0 PE1 NX_Q9UK17 73451 655 8.56 1 Dendrite;Sarcolemma;Cell membrane Brugada syndrome 9;Spinocerebellar ataxia 19 6 PE1 NX_Q9UK22 33328 296 4.29 1 Cytosol;Microsome membrane;Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q9UK23 56073 515 6.15 16 Golgi stack membrane;trans-Golgi network NA 1 PE1 NX_Q9UK28 37619 342 6.11 19 Nucleoplasm;Cytoskeleton;Golgi apparatus membrane NA 1 PE1 NX_Q9UK32 83872 745 5.92 X Cytosol;Mitochondrion;Nucleolus;Nucleus NA 0 PE1 NX_Q9UK33 18756 172 10.13 19 Nucleus NA 0 PE1 NX_Q9UK39 48196 431 6.85 4 Nucleoplasm;Cytoplasm;Perinuclear region;Nucleus;Cytosol NA 0 PE1 NX_Q9UK41 25425 221 5.37 8 Late endosome membrane;Cell membrane NA 0 PE1 NX_Q9UK45 11602 103 5.1 19 Nucleolus;Nucleus NA 0 PE1 NX_Q9UK53 46738 422 9.28 13 Nucleoplasm;Cytosol;Nucleus Squamous cell carcinoma of the head and neck 0 PE1 NX_Q9UK55 50707 444 8.28 14 Cytosol;Nucleoplasm;Secreted NA 0 PE1 NX_Q9UK58 59634 526 10.71 3 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_Q9UK59 61555 544 5.25 3 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UK61 189032 1670 5.55 3 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q9UK73 70264 627 6.14 15 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q9UK76 16015 154 5.47 17 Cytoplasm;Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 NX_Q9UK80 62656 565 9.91 1 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 NX_Q9UK85 27007 242 8.1 19 Cytoplasmic vesicle;Secreted;Nucleus membrane;Endoplasmic reticulum;Acrosome NA 0 PE1 NX_Q9UK96 105195 956 8.47 9 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UK97 52329 447 5.8 6 Cytoplasm;Centrosome;Cell membrane NA 0 PE1 NX_Q9UK99 54561 471 4.88 11 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q9UKA1 78555 691 5.32 4 Perinuclear region NA 0 PE1 NX_Q9UKA2 70097 621 6.1 6 Mitochondrion;Cytoplasm;Nucleus;Nucleus speckle Mitochondrial DNA depletion syndrome 13 0 PE1 NX_Q9UKA4 210512 1901 5.23 13 Cytosol;Cytoplasm;Nucleolus;Centrosome;Cell membrane NA 0 PE1 NX_Q9UKA8 27492 241 4.54 1 Nucleus speckle;Nucleolus NA 0 PE1 NX_Q9UKA9 57491 531 8.72 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UKB1 62091 542 6.73 5 Cytoplasmic vesicle;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9UKB3 23415 198 5.51 10 Cytoplasm Hyperphenylalaninemia, mild, non-BH4-deficient 0 PE1 NX_Q9UKB5 44536 411 9.63 1 Adherens junction;Apical cell membrane;Basolateral cell membrane NA 1 PE1 NX_Q9UKC9 47062 423 7.4 3 Nucleolus;Nucleus;Cell membrane;Membrane NA 0 PE1 NX_Q9UKD1 56421 530 5.38 20 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UKD2 27560 239 8.34 1 Cytoplasm;Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 NX_Q9UKE5 154943 1360 6.7 3 Cytosol;Cytoplasm;Nucleoplasm;Nucleus;Recycling endosome;Cytoskeleton Mental retardation, autosomal recessive 54 0 PE1 NX_Q9UKF2 88940 790 7.84 1 Late endosome membrane NA 1 PE1 NX_Q9UKF5 92759 820 7.29 4 Membrane NA 1 PE1 NX_Q9UKF6 77486 684 5.37 2 Nucleus NA 0 PE1 NX_Q9UKF7 38388 332 5.99 17 Nucleoplasm;Cytoplasm;Cytosol NA 0 PE1 NX_Q9UKG1 79663 709 5.28 3 Spindle;Early endosome membrane;Nucleus;Centrosome Maturity-onset diabetes of the young 14 0 PE1 NX_Q9UKG4 69358 626 7.16 7 Membrane NA 12 PE1 NX_Q9UKG9 70178 612 6.63 7 Cytoplasmic vesicle;Peroxisome NA 0 PE1 NX_Q9UKH3 79016 698 9.15 6 Virion;Cell membrane NA 1 PE1 NX_Q9UKI2 27678 254 5.49 2 Cytoskeleton;Cell membrane;Endomembrane system NA 0 PE1 NX_Q9UKI3 13710 123 5.1 22 NA NA 0 PE1 NX_Q9UKI8 86700 766 8.88 2 Nucleus NA 0 PE1 NX_Q9UKI9 47432 436 8.66 11 Nucleus NA 0 PE2 NX_Q9UKJ0 25542 227 10.39 7 Mitochondrion;Membrane NA 1 PE1 NX_Q9UKJ1 34005 303 10.22 7 Cell membrane;Secreted NA 1 PE1 NX_Q9UKJ3 164197 1502 8.81 17 Mitochondrion;Nucleus speckle NA 0 PE1 NX_Q9UKJ5 19254 165 6.34 4 Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_Q9UKJ8 80834 722 6.22 14 Membrane NA 1 PE1 NX_Q9UKK3 192595 1724 5.43 13 Cytosol;Cytoplasm;Spindle;Nucleus NA 0 PE1 NX_Q9UKK6 15847 140 4.91 20 Nucleoplasm;Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q9UKK9 24328 219 4.87 10 Cytoplasmic vesicle;Nucleus;Centrosome NA 0 PE1 NX_Q9UKL0 53327 485 6.56 14 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UKL2 35322 312 8.89 11 Cell membrane NA 7 PE2 NX_Q9UKL3 222658 1982 6.14 6 Mitochondrion;Cytoplasm;Nucleolus;Nucleus;PML body NA 0 PE1 NX_Q9UKL4 36093 321 8.95 15 Gap junction;Cell membrane NA 4 PE1 NX_Q9UKL6 24843 214 5.62 17 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9UKM7 79580 699 7.38 9 Endoplasmic reticulum membrane;Cytoplasmic vesicle Mental retardation, autosomal recessive 15 1 PE1 NX_Q9UKM9 32463 306 9.2 20 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UKN1 558164 5478 5.31 7 Membrane NA 1 PE1 NX_Q9UKN5 87920 801 5.93 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UKN7 395293 3530 9.26 17 Cytoskeleton;Stereocilium Deafness, autosomal recessive, 3 0 PE1 NX_Q9UKN8 91982 822 6.21 9 Nucleus NA 0 PE1 NX_Q9UKP3 38382 347 5.04 X Cytosol NA 0 PE1 NX_Q9UKP4 184095 1686 5.81 15 Cytoplasmic vesicle;Extracellular matrix NA 0 PE1 NX_Q9UKP5 125273 1117 6.24 5 Extracellular matrix NA 0 PE1 NX_Q9UKP6 42130 389 10.68 17 Cell membrane NA 7 PE1 NX_Q9UKQ2 87148 775 6.55 8 Mitochondrion;Cell membrane;Secreted NA 1 PE1 NX_Q9UKQ9 27513 250 7.1 19 Secreted NA 0 PE1 NX_Q9UKR0 26734 248 7.57 19 Secreted NA 0 PE1 NX_Q9UKR3 30570 277 8.78 19 Secreted NA 0 PE1 NX_Q9UKR5 15864 140 9.86 14 Cytosol;Endoplasmic reticulum membrane;Endoplasmic reticulum;Nucleoplasm NA 4 PE1 NX_Q9UKR8 26266 245 8.61 19 Membrane NA 4 PE1 NX_Q9UKS6 48487 424 5.83 11 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9UKS7 59574 526 6.3 2 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q9UKT4 50146 447 9.17 6 Nucleoplasm;Cytoplasm;Spindle;Nucleus NA 0 PE1 NX_Q9UKT5 44136 387 5.77 5 Cytoplasm;Nucleus NA 0 PE1 NX_Q9UKT6 49152 434 6.02 5 Cytosol;Nucleus NA 0 PE1 NX_Q9UKT7 48707 428 6.41 13 Cytoplasm;Nucleus NA 0 PE1 NX_Q9UKT8 51512 454 6.11 9 Nucleoplasm NA 0 PE1 NX_Q9UKT9 58023 509 6.11 17 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9UKU0 77752 697 7.2 5 Endoplasmic reticulum membrane;Microsome membrane;Peroxisome membrane;Mitochondrion outer membrane NA 1 PE1 NX_Q9UKU6 117000 1024 6.51 12 Membrane NA 1 PE1 NX_Q9UKU7 45070 415 8.12 11 Mitochondrion Isobutyryl-CoA dehydrogenase deficiency 0 PE1 NX_Q9UKU9 57104 493 7.23 9 Golgi apparatus;Secreted NA 0 PE1 NX_Q9UKV0 111297 1011 6.4 7 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UKV3 151862 1341 6.08 14 Nucleoplasm;Nucleus speckle;Nucleus;Cytosol;Cell membrane NA 0 PE1 NX_Q9UKV5 72996 643 5.95 16 Endoplasmic reticulum membrane;Endoplasmic reticulum;Golgi apparatus NA 7 PE1 NX_Q9UKV8 97208 859 9.32 8 Nucleoplasm;P-body;Nucleus;Cell junction NA 0 PE1 NX_Q9UKW4 97776 847 6.65 1 NA NA 0 PE1 NX_Q9UKW6 31263 265 5.81 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UKX2 223044 1941 5.64 17 Cytoplasm;Myofibril Myopathy, proximal, and ophthalmoplegia 0 PE1 NX_Q9UKX3 223605 1938 5.54 17 Myofibril NA 0 PE1 NX_Q9UKX5 133470 1188 6.24 15 Membrane NA 1 PE1 NX_Q9UKX7 50144 468 6.64 22 Nucleoplasm;Nuclear pore complex;Nucleus membrane NA 0 PE1 NX_Q9UKY0 20293 176 9.24 20 Cell membrane NA 0 PE1 NX_Q9UKY1 98098 873 5.76 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UKY3 30679 287 7.83 16 Secreted NA 0 PE5 NX_Q9UKY4 84214 750 9.25 14 Endoplasmic reticulum membrane Muscular dystrophy-dystroglycanopathy limb-girdle C2;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 10 PE1 NX_Q9UKY7 27335 258 6.06 3 Cytosol;Cytoplasm;Nucleolus;Cell membrane NA 0 PE1 NX_Q9UKZ1 55215 510 5.99 2 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UKZ4 305011 2725 5.98 X Nucleus speckle;Cytoplasm;Cell membrane;Nucleus;Nucleus matrix;Cytoskeleton NA 1 PE1 NX_Q9UKZ9 45717 415 8.81 3 Cytosol;Nucleoplasm;Secreted NA 0 PE1 NX_Q9UL01 109773 958 8.23 6 Cytosol;Nucleoplasm;Membrane Ehlers-Danlos syndrome, musculocontractural type 2 2 PE1 NX_Q9UL03 100390 887 8.79 13 Nucleoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9UL12 101037 918 6.8 9 Mitochondrion matrix;Mitochondrion Sarcosinemia 0 PE1 NX_Q9UL15 51200 447 5.76 14 Cytoplasmic vesicle NA 0 PE1 NX_Q9UL16 65730 551 8.94 1 Nucleoplasm;Cilium NA 0 PE1 NX_Q9UL17 58328 535 5.67 17 Nucleus Asthma, with nasal polyps and aspirin intolerance 0 PE1 NX_Q9UL18 97214 857 9.27 1 P-body NA 0 PE1 NX_Q9UL19 18179 164 8.78 11 Membrane NA 1 PE1 NX_Q9UL25 24348 225 8.11 12 Endoplasmic reticulum membrane;Endosome;Cleavage furrow;Early endosome membrane;Golgi apparatus membrane;trans-Golgi network;Cytoplasmic vesicle membrane NA 0 PE1 NX_Q9UL26 21855 194 8.32 20 Cytoplasmic vesicle;Late endosome;Ruffle;Phagosome;Endosome membrane;Cell membrane;Early endosome;Phagosome membrane;Centrosome NA 0 PE1 NX_Q9UL33 16146 140 6.28 16 Cytoplasmic vesicle;Cytosol;Perinuclear region;Golgi apparatus;Endoplasmic reticulum NA 0 PE1 NX_Q9UL36 203704 1845 8.46 18 Nucleus NA 0 PE1 NX_Q9UL40 32933 294 9.24 5 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9UL41 52376 463 9.59 X Nucleolus;Nucleus NA 0 PE1 NX_Q9UL42 41509 364 4.84 8 Nucleolus NA 0 PE1 NX_Q9UL45 19744 172 6.01 15 Cytoplasm;Membrane Hermansky-Pudlak syndrome 9 0 PE1 NX_Q9UL46 27402 239 5.54 14 Nucleus NA 0 PE1 NX_Q9UL49 52697 500 6.44 20 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UL51 96950 889 9.15 19 Cell membrane NA 6 PE1 NX_Q9UL52 47696 423 8.85 4 Cell membrane;Secreted NA 1 PE1 NX_Q9UL54 138251 1235 6.84 16 Nucleolus;Cytosol;Dendrite;Nucleus;Cytoskeleton;Cytoplasmic vesicle membrane NA 5 PE1 NX_Q9UL58 60034 517 8.96 11 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UL59 70992 606 8.84 11 Nucleus NA 0 PE1 NX_Q9UL62 111412 973 6.94 X Cell membrane NA 6 PE1 NX_Q9UL63 84768 735 5.91 7 Synapse;Ruffle;Cytosol;Cytoplasm;Cell cortex;Cell membrane;Cytoplasmic vesicle;Nucleoplasm NA 0 PE1 NX_Q9UL68 133043 1186 4.86 2 Cytoplasmic vesicle;Nucleus;Chromosome Mental retardation, autosomal dominant 39 0 PE1 NX_Q9ULA0 52428 475 7.03 2 Cytosol;Cytoplasm NA 0 PE1 NX_Q9ULB1 161883 1477 5.61 2 Synapse;Nucleolus;Cell membrane Pitt-Hopkins-like syndrome 2;Schizophrenia 17 1 PE1 NX_Q9ULB4 88689 789 4.73 5 Cell membrane NA 1 PE1 NX_Q9ULB5 87086 785 4.64 18 Cell membrane NA 1 PE1 NX_Q9ULC0 27452 261 7.72 4 Secreted;Cell membrane;Membrane NA 1 PE1 NX_Q9ULC3 26659 237 6.22 6 Cytosol;Cytoplasm;Phagosome;Endosome membrane;Cell membrane;Phagosome membrane;Autophagosome Carpenter syndrome 1 0 PE1 NX_Q9ULC4 20555 181 8.98 X Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9ULC5 75991 683 6.49 10 Mitochondrion;Endoplasmic reticulum membrane;Nucleus;Endoplasmic reticulum;Mitochondrion outer membrane NA 1 PE1 NX_Q9ULC6 74666 663 6.07 1 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q9ULC8 81443 765 9.33 22 Nucleoplasm;Cytosol;Cytoplasmic vesicle membrane NA 4 PE1 NX_Q9ULD0 114481 1010 6.18 10 Mitochondrion matrix;Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q9ULD2 141397 1270 7.33 8 Nucleolus;Golgi apparatus;Cell membrane;Centrosome;Nucleus;Mitochondrion;Cytoskeleton;Spindle Hepatocellular carcinoma 0 PE1 NX_Q9ULD4 135745 1205 6.17 6 Nucleoplasm;Mitochondrion NA 0 PE1 NX_Q9ULD5 85176 760 5.62 7 Nucleus NA 0 PE1 NX_Q9ULD6 105648 942 5.59 4 Cytoplasm;Cell surface;Cytoplasmic vesicle;Cilium basal body Orofaciodigital syndrome 17;Short-rib thoracic dysplasia 7/20 with polydactyly, digenic;Short-rib thoracic dysplasia 20 with polydactyly 0 PE1 NX_Q9ULD8 117129 1083 8.25 12 Mitochondrion;Nucleus;Membrane NA 6 PE1 NX_Q9ULD9 162208 1512 8.92 5 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9ULE0 122676 1092 6 X Cytosol;Cytoskeleton NA 0 PE1 NX_Q9ULE3 113853 1009 9.11 7 Cytoskeleton NA 0 PE1 NX_Q9ULE4 121044 1060 5.87 4 NA NA 0 PE1 NX_Q9ULE6 96754 856 6.08 10 Cytosol NA 0 PE1 NX_Q9ULF5 94132 831 6.25 2 Nucleoplasm;Cytosol;Cell membrane;Membrane NA 7 PE1 NX_Q9ULG1 176753 1556 9.53 15 Nucleoplasm;Cytoplasm;Spindle;Nucleus;Chromosome NA 0 PE1 NX_Q9ULG3 46740 409 8.11 3 Cytosol;Cell junction NA 0 PE1 NX_Q9ULG6 87340 757 5.67 15 Golgi apparatus;Cytoplasmic granule membrane;Endoplasmic reticulum NA 1 PE1 NX_Q9ULH0 196542 1771 6.19 2 Nucleoplasm;Late endosome;Membrane Spastic paraplegia, intellectual disability, nystagmus, and obesity 4 PE1 NX_Q9ULH1 125498 1129 6.95 8 Cytosol;Cytoplasm;Centrosome;Cell membrane;Membrane NA 0 PE1 NX_Q9ULH4 84731 789 6.27 6 Cytoplasmic vesicle;Synapse;Postsynaptic cell membrane;Membrane NA 1 PE1 NX_Q9ULH7 118127 1088 5.89 16 Nucleus speckle;Nucleus NA 0 PE1 NX_Q9ULI0 164914 1458 6.36 2 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9ULI1 197466 1742 5.85 4 NA NA 0 PE1 NX_Q9ULI2 42464 386 5.67 12 Nucleoplasm;Cytoplasm;Microtubule organizing center NA 0 PE1 NX_Q9ULI3 147461 1381 5.8 3 Cytoplasmic vesicle;Cell junction;Cell membrane;Secreted NA 1 PE1 NX_Q9ULI4 194590 1882 9.12 14 Cytosol;Cytoskeleton;Nucleus;Cell membrane NA 0 PE1 NX_Q9ULJ1 73728 636 6.09 1 Mitochondrion;Centriole;Centriolar satellite;Centrosome;Cilium basal body NA 0 PE1 NX_Q9ULJ3 118870 1066 8.61 21 Nucleus NA 0 PE1 NX_Q9ULJ6 115483 1067 7.09 10 Cytoplasmic vesicle;Nucleus speckle;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q9ULJ7 155859 1429 6.13 4 Cytosol;Nucleoplasm;Endosome NA 0 PE1 NX_Q9ULJ8 123342 1098 5.01 7 Synaptosome;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q9ULK0 112131 1009 6.23 10 Postsynaptic cell membrane;Cell membrane NA 3 PE1 NX_Q9ULK2 91514 861 9.82 7 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9ULK4 156474 1368 7.09 6 Cytoplasmic vesicle;Nucleoplasm;Nucleus Mental retardation, autosomal recessive 18 0 PE1 NX_Q9ULK5 59714 521 9.27 1 Cell membrane Neural tube defects 4 PE1 NX_Q9ULK6 48072 438 5.11 4 Membrane NA 1 PE1 NX_Q9ULL0 187021 1709 8.72 X Acrosome NA 0 PE1 NX_Q9ULL1 155439 1385 5.84 6 Nucleoplasm NA 0 PE1 NX_Q9ULL4 206847 1909 5.96 X Cell membrane NA 1 PE1 NX_Q9ULL5 129991 1215 8.18 19 Cytosol;Synaptosome;Nucleus;Postsynaptic density NA 0 PE1 NX_Q9ULL8 164857 1493 6.2 X Cytoskeleton Mental retardation, X-linked, syndromic, Stocco dos Santos type 0 PE1 NX_Q9ULM0 151232 1364 8.17 14 Centrosome NA 0 PE1 NX_Q9ULM2 61340 529 9.02 19 Nucleus NA 0 PE1 NX_Q9ULM3 150782 1422 9.1 3 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9ULM6 63307 557 6.82 5 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9ULN7 68615 635 5.35 19 NA NA 0 PE1 NX_Q9ULP0 38459 352 5.79 16 Cytosol;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9ULP9 62919 559 7.14 16 Cytoplasm;Cytoplasmic vesicle membrane;Cell junction;Cell membrane Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome;Familial infantile myoclonic epilepsy;Deafness, autosomal dominant, 65;Epileptic encephalopathy, early infantile, 16;Deafness, autosomal recessive, 86 0 PE1 NX_Q9ULQ0 95360 834 5.65 7 Cytosol;Cytoplasm NA 0 PE1 NX_Q9ULQ1 94147 816 8.47 12 Endosome membrane;Lysosome membrane NA 12 PE1 NX_Q9ULR0 32992 285 5.15 3 Nucleus speckle;Nucleus NA 0 PE1 NX_Q9ULR3 56448 514 6.14 12 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9ULR5 14237 123 4.06 2 Cytosol NA 0 PE1 NX_Q9ULS5 53785 477 8.77 12 Cytoplasmic vesicle;Endoplasmic reticulum membrane;Endoplasmic reticulum NA 2 PE1 NX_Q9ULS6 54237 477 5.58 8 Cell membrane NA 6 PE1 NX_Q9ULT0 96185 858 6.03 2 Cytoplasm;Cell membrane Gastrointestinal defects and immunodeficiency syndrome 0 PE1 NX_Q9ULT6 100574 936 8.14 22 Golgi apparatus;Cell membrane NA 1 PE1 NX_Q9ULT8 289384 2610 5.21 14 Nucleolus;Nucleus NA 0 PE1 NX_Q9ULU4 131692 1186 6.83 20 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9ULU8 152786 1353 5.5 3 Cytoplasmic vesicle;Synapse;Cytoplasmic vesicle membrane NA 0 PE1 NX_Q9ULV0 213672 1848 6.77 18 Cytoplasm;Cell membrane Diarrhea 2, with microvillus atrophy 0 PE1 NX_Q9ULV1 59881 537 7.05 11 Cytosol;Nucleoplasm;Cell membrane;Membrane Vitreoretinopathy, exudative 1 7 PE1 NX_Q9ULV3 100045 898 5.77 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9ULV4 53249 474 6.65 12 Synapse;Sarcolemma;Cytoplasm;Cell cortex;Cell membrane;Endosome membrane;Ruffle membrane;Sarcomere;Lamellipodium;Cytoskeleton NA 0 PE1 NX_Q9ULV5 53011 492 5.29 16 Nucleus speckle;Nucleus Cataract 5, multiple types 0 PE1 NX_Q9ULV8 52456 474 7.83 19 Nucleoplasm NA 0 PE1 NX_Q9ULW0 85653 747 9.29 20 Nucleoplasm;Spindle pole;Nucleus;Spindle;Microtubule organizing center;Cytoskeleton NA 0 PE1 NX_Q9ULW2 65336 581 8.83 12 Nucleoplasm;Cell membrane NA 7 PE1 NX_Q9ULW3 31079 272 9.87 6 Cytoplasmic vesicle;Nucleolus;Nucleus NA 0 PE1 NX_Q9ULW5 27900 256 9.43 16 Cytoplasmic vesicle;Golgi apparatus membrane;Secretory vesicle membrane;Centrosome;Cell membrane NA 0 PE1 NX_Q9ULW6 52542 460 4.39 X Cytosol;Cytoplasmic vesicle;Nucleus;Cell membrane NA 0 PE1 NX_Q9ULW8 74743 664 5.3 1 Cytoplasmic vesicle;Cytoplasm;Nucleoplasm Uncombable hair syndrome 1 0 PE1 NX_Q9ULX3 46675 412 6.72 16 Cytosol;Focal adhesion;Nucleus NA 0 PE1 NX_Q9ULX5 68298 631 8.88 17 Nucleus speckle;Endosome;Nucleoplasm;Cytoplasm;Nuclear body;Nucleus;Membrane;Postsynaptic density;Synaptic vesicle NA 2 PE1 NX_Q9ULX6 71640 646 4.94 19 Nucleus matrix;Cytoplasm;Nucleus;Nucleus speckle;PML body NA 0 PE1 NX_Q9ULX7 37668 337 5.9 1 Cell membrane;Membrane NA 1 PE1 NX_Q9ULX9 17760 164 9.85 22 Mitochondrion;Nucleus NA 0 PE1 NX_Q9ULY5 25073 219 5.12 12 Cytosol;Membrane NA 1 PE1 NX_Q9ULZ0 13627 132 8.45 16 Cytoplasm;Nucleus NA 0 PE2 NX_Q9ULZ1 8569 77 11.83 X Extracellular space;Secreted NA 0 PE1 NX_Q9ULZ2 34291 295 7.61 4 Mitochondrion;Cytoplasm;Cytoplasmic vesicle;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9ULZ3 21627 195 5.95 16 Nucleolus;Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleus;Mitochondrion NA 0 PE1 NX_Q9ULZ9 66653 603 6.08 12 Cell membrane;Extracellular matrix NA 0 PE1 NX_Q9UM00 21175 188 9.77 1 Endoplasmic reticulum membrane;Golgi apparatus membrane;Endoplasmic reticulum Glaucoma, primary open angle;Craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome 2 PE1 NX_Q9UM01 55991 511 5.29 14 Basolateral cell membrane Lysinuric protein intolerance 12 PE1 NX_Q9UM07 74079 663 6.15 1 Cytoplasm;Nucleus;Cytoplasmic granule Rheumatoid arthritis 0 PE1 NX_Q9UM11 55179 496 9.41 19 Nucleoplasm;Cytoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_Q9UM13 21252 185 9.17 4 Nucleoplasm;Golgi apparatus NA 0 PE1 NX_Q9UM19 22202 191 4.76 1 Cytoplasm;Nucleus NA 0 PE1 NX_Q9UM21 61544 535 6.94 2 Golgi apparatus membrane;Golgi apparatus;Secreted NA 1 PE1 NX_Q9UM22 25437 224 6.33 7 Secreted NA 0 PE1 NX_Q9UM44 46850 414 5.77 3 Membrane NA 1 PE1 NX_Q9UM47 243631 2321 5.18 19 Cytosol;Nucleoplasm;Cytoskeleton;Nucleus;Cell membrane Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1;Myofibromatosis, infantile 2;Lateral meningocele syndrome 1 PE1 NX_Q9UM54 149691 1294 8.74 6 trans-Golgi network membrane;Golgi apparatus;Clathrin-coated pit;Clathrin-coated vesicle membrane;Perinuclear region;Nucleus;Ruffle membrane Deafness, autosomal dominant, 22;Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy;Deafness, autosomal recessive, 37 0 PE1 NX_Q9UM63 50819 463 8.85 6 Cytoplasmic vesicle;Nucleus;Golgi apparatus Transient neonatal diabetes mellitus 1 0 PE1 NX_Q9UM73 176442 1620 6.67 2 Cell membrane Neuroblastoma 3 1 PE1 NX_Q9UM82 58427 520 9 20 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9UMD9 150419 1497 8.89 10 Basement membrane;Hemidesmosome;Cell membrane;Golgi apparatus;Membrane Epithelial recurrent erosion dystrophy;Generalized atrophic benign epidermolysis bullosa 1 PE1 NX_Q9UMF0 97116 924 5.71 19 Membrane NA 1 PE1 NX_Q9UMN6 293515 2715 8.59 19 Cytosol;Nucleoplasm;Nucleus Dystonia 28, childhood-onset 0 PE1 NX_Q9UMQ3 31188 279 8.65 11 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UMQ6 84423 739 5.39 6 Acrosome NA 0 PE1 NX_Q9UMR2 53927 479 5.96 16 Cytoplasm;Nuclear pore complex;Nucleus envelope;Nucleus membrane NA 0 PE1 NX_Q9UMR3 49232 447 7.29 7 Nucleus Atrial septal defect 4 0 PE1 NX_Q9UMR5 34225 302 5.87 6 Endoplasmic reticulum;Lysosome NA 0 PE1 NX_Q9UMR7 27512 237 6.32 12 Cell membrane NA 1 PE1 NX_Q9UMS0 28463 254 4.97 2 Nucleoplasm;Cytosol;Mitochondrion Multiple mitochondrial dysfunctions syndrome 1 0 PE1 NX_Q9UMS4 55181 504 6.14 11 Nucleus speckle;Nucleoplasm;Cytoplasm;Lipid droplet;Nucleus;Spindle NA 0 PE1 NX_Q9UMS5 87252 762 9.64 1 Nucleolus;Nucleus NA 0 PE1 NX_Q9UMS6 117514 1093 8.75 4 Cytosol;Cytoplasm;Cytoplasmic vesicle;Focal adhesion;Nucleus;Cytoskeleton;Z line NA 0 PE1 NX_Q9UMW8 43011 372 8.05 22 Cytosol;Cytoplasm;Nucleus Pseudo-TORCH syndrome 2 0 PE1 NX_Q9UMX0 62519 589 5.02 9 Cytosol;Cytoplasm;Endoplasmic reticulum;Nucleoplasm;Nucleus;Autophagosome;Cell membrane NA 0 PE1 NX_Q9UMX1 53947 484 5.16 10 Cytoplasm;Nucleus Joubert syndrome 32;Medulloblastoma 0 PE1 NX_Q9UMX2 27413 235 6.38 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UMX3 23280 212 9.33 2 Endoplasmic reticulum membrane;trans-Golgi network membrane;Nucleus outer membrane;Cytoplasm;Early endosome membrane;Endoplasmic reticulum;Mitochondrion outer membrane;cis-Golgi network membrane;Mitochondrion inner membrane;Membrane;Mitochondrion;Nucleus;Recycling endosome membrane;Mitochondrion membrane NA 1 PE1 NX_Q9UMX5 18856 172 5.51 1 Extracellular space;Nucleus NA 0 PE1 NX_Q9UMX6 23420 200 4.75 6 Cell membrane Retinitis pigmentosa 48 0 PE1 NX_Q9UMX9 58268 530 7.17 5 Melanosome membrane Albinism, oculocutaneous, 4 12 PE1 NX_Q9UMY1 29426 257 9.68 6 Mitochondrion;Nucleolus;Nucleus NA 0 PE1 NX_Q9UMY4 19730 172 7.71 X Membrane NA 0 PE1 NX_Q9UMZ2 140654 1314 4.9 17 Cytosol;Cytoplasm;trans-Golgi network membrane NA 0 PE1 NX_Q9UMZ3 260924 2332 5.57 12 Cytosol;Membrane Deafness, autosomal dominant, 73;Deafness, autosomal recessive, 84A 1 PE1 NX_Q9UN19 32194 280 7.66 4 Cytoplasm;Membrane NA 0 PE1 NX_Q9UN30 37447 329 6.42 X Nucleus NA 0 PE1 NX_Q9UN36 40798 371 5.08 14 Golgi apparatus;Cytosol;Cytoplasm;Microtubule organizing center;Nucleoplasm;Perinuclear region;Growth cone NA 0 PE1 NX_Q9UN37 48898 437 7.64 16 Late endosome membrane;Prevacuolar compartment membrane;Midbody NA 0 PE1 NX_Q9UN42 41598 357 4.69 X Nucleus inner membrane NA 1 PE1 NX_Q9UN66 87639 801 4.77 5 Cell membrane NA 1 PE1 NX_Q9UN67 87621 800 4.75 5 Cell membrane NA 1 PE1 NX_Q9UN70 101077 934 5.07 5 Cell membrane NA 1 PE1 NX_Q9UN71 99927 923 4.8 5 Cell membrane NA 1 PE1 NX_Q9UN72 100865 937 5.08 5 Cell membrane NA 1 PE2 NX_Q9UN73 102716 950 4.93 5 Cytoplasmic vesicle;Cell membrane;Secreted NA 1 PE1 NX_Q9UN74 102293 947 4.96 5 Cytosol;Nucleoplasm;Cell membrane NA 1 PE1 NX_Q9UN75 101652 941 5.13 5 Cytosol;Cell membrane NA 1 PE1 NX_Q9UN76 72153 642 8.53 X Cytoplasmic vesicle;Membrane NA 12 PE1 NX_Q9UN79 69228 622 6.26 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UN81 40056 338 9.54 unknown Stress granule;Cytoplasmic ribonucleoprotein granule;Nucleolus NA 0 PE1 NX_Q9UN86 54121 482 5.41 4 Cytosol;Cytoplasm NA 0 PE1 NX_Q9UN88 72022 632 5.55 X Postsynaptic cell membrane;Cell membrane NA 3 PE1 NX_Q9UNA0 101718 930 9.13 21 Nucleoplasm;Extracellular matrix NA 0 PE1 NX_Q9UNA1 92235 814 6.2 5 Cytosol;Cytoskeleton;Focal adhesion Leukemia, juvenile myelomonocytic 0 PE1 NX_Q9UNA3 39497 340 6.42 3 Golgi apparatus membrane NA 1 PE1 NX_Q9UNA4 83006 740 5.73 18 Cytosol;Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q9UND3 40133 350 9.48 16 Nuclear pore complex;Nucleus membrane NA 0 PE2 NX_Q9UNE0 48582 448 5.08 2 Membrane Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 1 PE1 NX_Q9UNE2 34464 315 9.23 17 Cytoplasm;Secretory vesicle membrane NA 0 PE1 NX_Q9UNE7 34856 303 5.61 16 Nucleoplasm;Cytoplasm;Nucleus;Cytosol Spinocerebellar ataxia, autosomal recessive, 16 0 PE1 NX_Q9UNF0 55739 486 5.08 22 Nucleus speckle;Cytosol;Cytoplasm;Cell membrane;Cytoplasmic vesicle;Cell projection;Ruffle membrane;Early endosome;Caveola;Cytoskeleton;Recycling endosome membrane;Cytoplasmic vesicle membrane NA 0 PE1 NX_Q9UNF1 64954 606 9.35 X Cytosol;Nucleolus;Nucleus Bartter syndrome 5, antenatal, transient 0 PE1 NX_Q9UNG2 22724 199 7.62 1 Cell membrane NA 1 PE1 NX_Q9UNH5 66574 594 9.21 1 Nucleoplasm;Stereocilium;Centrosome;Cytosol;Nucleus;Kinocilium;Spindle;Spindle pole Deafness, autosomal recessive 32, with or without immotile sperm 0 PE1 NX_Q9UNH6 45303 387 5.02 1 Cytosol;Cytoplasmic vesicle membrane;Nucleolus NA 0 PE1 NX_Q9UNH7 46649 406 5.81 14 Endosome;Golgi apparatus;Lysosome;Cytoplasm;Early endosome membrane;Cytoplasmic vesicle;Nucleus;Early endosome NA 0 PE1 NX_Q9UNI1 27798 258 8.59 12 Secreted NA 0 PE1 NX_Q9UNI6 37687 340 6.41 1 Cytosol;Nucleus NA 0 PE1 NX_Q9UNK0 26907 236 4.91 17 Cytosol;Cytoskeleton;Nucleus;Golgi apparatus;Membrane NA 1 PE1 NX_Q9UNK4 16546 145 8.6 1 Secreted NA 0 PE1 NX_Q9UNK9 75276 670 4.72 14 Nucleoplasm NA 0 PE1 NX_Q9UNL2 21080 185 9.61 3 Endoplasmic reticulum membrane;Cytosol NA 4 PE1 NX_Q9UNL4 28530 249 7.53 12 Nucleus NA 0 PE1 NX_Q9UNM6 42945 376 5.53 11 Cytosol;Nucleus speckle NA 0 PE1 NX_Q9UNN4 52444 478 4.58 2 Nucleus NA 0 PE1 NX_Q9UNN5 73954 650 4.81 1 Nucleus NA 0 PE1 NX_Q9UNN8 26671 238 6.7 20 Cytoplasm;Cell membrane;Membrane NA 1 PE1 NX_Q9UNP4 47990 418 9.13 2 Cytoplasmic vesicle;Golgi apparatus membrane Salt and pepper developmental regression syndrome 1 PE1 NX_Q9UNP9 33431 301 5.41 1 Nucleus speckle;Nucleus NA 0 PE1 NX_Q9UNQ0 72314 655 8.91 4 Nucleus;Mitochondrion membrane;Cell membrane NA 6 PE1 NX_Q9UNQ2 35236 313 10.01 5 Nucleoplasm;Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q9UNS1 138658 1208 5.28 12 Nucleus NA 0 PE1 NX_Q9UNS2 47873 423 6.19 17 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UNT1 26101 228 4.75 22 Centriole;Cytoplasm;Cilium basal body NA 0 PE1 NX_Q9UNU6 58068 501 8.78 3 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_Q9UNW1 55051 487 7.93 10 Endoplasmic reticulum lumen Thyroid cancer, non-medullary, 2 0 PE1 NX_Q9UNW8 42499 380 8.95 14 Cell membrane NA 7 PE1 NX_Q9UNW9 49009 492 8.24 19 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9UNX3 17256 145 10.55 5 NA NA 0 PE1 NX_Q9UNX4 106099 943 6.2 1 Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 NX_Q9UNX9 47846 436 5.25 19 Nucleolus;Membrane NA 2 PE1 NX_Q9UNY4 129588 1162 8.63 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UNY5 47688 417 6.28 17 Cytosol;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9UNZ2 40573 370 4.99 20 Cytosol;Cell membrane;Nucleoplasm;Nucleus;Golgi stack;Centrosome;Chromosome NA 0 PE1 NX_Q9UNZ5 10577 99 11.55 19 Nucleolus;Nucleus NA 0 PE1 NX_Q9UP38 71158 647 8.33 7 Cell membrane NA 7 PE1 NX_Q9UP52 88755 801 5.72 7 Cytoplasm;Cell membrane Hemochromatosis 3 1 PE1 NX_Q9UP65 60939 541 6.46 19 Cytosol;Membrane NA 0 PE1 NX_Q9UP79 96460 889 5.78 11 Extracellular matrix NA 0 PE1 NX_Q9UP83 92743 839 6.15 7 Cytosol;Nucleoplasm;Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2I 0 PE1 NX_Q9UP95 120650 1085 6.02 16 Endosome;Membrane NA 12 PE1 NX_Q9UPA5 416469 3926 7.28 3 Cytoplasm;Cytoskeleton;Synaptic vesicle membrane;Synaptosome NA 0 PE1 NX_Q9UPC5 43860 381 9.89 X Cytosol;Nucleus;Cell membrane NA 7 PE2 NX_Q9UPE1 62014 567 6.83 X NA NA 0 PE1 NX_Q9UPG8 54584 496 8.95 20 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UPI3 57241 526 5.78 14 Cell membrane Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 12 PE1 NX_Q9UPM6 40045 363 8.77 9 Nucleolus;Nucleus;Cell membrane NA 0 PE1 NX_Q9UPM8 127287 1137 5.66 15 trans-Golgi network membrane Spastic paraplegia 51, autosomal recessive;Stuttering, familial persistent 1 0 PE1 NX_Q9UPM9 22775 204 6.73 17 Cilium axoneme;Cilium basal body Joubert syndrome 27;Meckel syndrome 9 0 PE1 NX_Q9UPN3 838308 7388 5.28 1 Cytoplasm;Cytoskeleton;Cell membrane;Golgi apparatus;Ruffle membrane NA 0 PE1 NX_Q9UPN4 122149 1083 8.84 17 Acrosome;Microtubule organizing center;Centriolar satellite;Cytoskeleton;Centrosome;Cilium basal body NA 0 PE1 NX_Q9UPN6 140519 1271 8.41 6 Nucleoplasm;Nucleus matrix;Nucleus NA 0 PE1 NX_Q9UPN7 96724 881 4.45 19 Cytosol;Cytoplasm NA 0 PE1 NX_Q9UPN9 122533 1127 6.23 1 Cytoplasmic vesicle;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UPP1 117864 1060 8.92 X Nucleolus;Nucleus Mental retardation, X-linked, syndromic, Siderius type 0 PE1 NX_Q9UPP2 127621 1182 6.08 12 Cytoplasm;Postsynaptic density NA 0 PE1 NX_Q9UPP5 155681 1409 5.83 1 Axon;Clathrin-coated vesicle;Presynaptic cell membrane NA 0 PE1 NX_Q9UPQ0 121867 1083 6.1 4 Cytoskeleton;Stress fiber;Cell membrane NA 0 PE1 NX_Q9UPQ3 94470 857 8.18 2 Cytoplasm NA 0 PE1 NX_Q9UPQ4 56540 493 6.71 8 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UPQ7 119596 1066 5.68 3 Cytosol;Cytoplasm;Synapse;Nucleus NA 0 PE1 NX_Q9UPQ8 59268 538 8.87 9 Endoplasmic reticulum membrane;Nucleolus;Nucleus;Golgi apparatus Congenital disorder of glycosylation 1M 15 PE1 NX_Q9UPQ9 194002 1833 6.31 22 P-body NA 0 PE1 NX_Q9UPR0 125866 1127 6.47 3 Cytoplasm NA 0 PE1 NX_Q9UPR3 113928 1016 5.63 1 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9UPR5 100368 921 5.02 19 Dendrite;Basolateral cell membrane;Perikaryon;Cell membrane;Dendritic spine NA 11 PE1 NX_Q9UPR6 101330 939 8.76 19 Nucleoplasm NA 0 PE1 NX_Q9UPS6 212803 1966 4.86 12 Nucleoplasm;Nucleus speckle;Chromosome NA 0 PE1 NX_Q9UPS8 196411 1710 5.54 10 Cytoplasmic vesicle;Golgi apparatus Thrombocytopenia 2 0 PE1 NX_Q9UPT5 83382 735 6.33 17 Cytosol;Cytoplasmic vesicle;Midbody ring;Cell membrane NA 0 PE1 NX_Q9UPT6 147457 1336 5.26 16 Axon;Golgi apparatus;Cytoplasm;Cytoplasmic vesicle;Dendrite;Perinuclear region;Growth cone NA 0 PE1 NX_Q9UPT8 140257 1303 5.87 19 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UPT9 59961 525 8.37 17 Nucleus speckle;Nucleus NA 0 PE1 NX_Q9UPU3 135755 1222 6.14 10 Membrane NA 1 PE1 NX_Q9UPU5 294365 2620 5.79 1 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9UPU7 109880 963 5.85 15 Cytosol NA 0 PE1 NX_Q9UPU9 79415 718 8.61 14 Cytosol;Cytoplasm;Dendrite;Cell junction;Synaptosome NA 0 PE1 NX_Q9UPV0 164314 1460 5.27 11 Centriole;Nucleoplasm;Nucleus;Centrosome Nephronophthisis 15 0 PE1 NX_Q9UPV7 45192 400 5.48 9 NA NA 0 PE1 NX_Q9UPV9 106040 953 5.59 3 Endosome;Nucleoplasm;Cytoplasm;Cell cortex;Endoplasmic reticulum;Nucleus;Early endosome;Mitochondrion;Mitochondrion membrane NA 0 PE1 NX_Q9UPW0 68960 622 6.59 1 Nucleoplasm;Nucleus speckle;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9UPW5 138448 1226 5.78 9 Nucleolus;Cytosol;Cytoplasm;Cytoplasmic vesicle;Nucleus;Mitochondrion NA 0 PE1 NX_Q9UPW6 82555 733 6.44 2 Nucleoplasm;Nucleus matrix Cleft palate isolated 0 PE1 NX_Q9UPW8 193014 1703 5.21 19 Nucleus membrane;Cytosol;Cytoplasm;Cell membrane;Endoplasmic reticulum;Presynaptic cell membrane NA 0 PE1 NX_Q9UPX0 147089 1349 6.22 11 Cytosol;Postsynaptic density;Postsynaptic cell membrane NA 1 PE1 NX_Q9UPX6 102993 916 7.04 15 Golgi apparatus;Cell membrane NA 1 PE1 NX_Q9UPX8 158822 1470 6.48 11 Synapse;Apical cell membrane;Cytoplasm;Dendritic spine;Postsynaptic density;Growth cone Autism 17 0 PE1 NX_Q9UPY3 218682 1922 5.47 14 Cytosol;Cytoplasm Rhabdomyosarcoma, embryonal, 2;Pleuropulmonary blastoma;Goiter multinodular 1, with or without Sertoli-Leydig cell tumors 0 PE1 NX_Q9UPY5 55423 501 9.29 4 Cytoplasmic vesicle;Membrane NA 12 PE1 NX_Q9UPY6 55293 502 6 13 Cytoskeleton NA 0 PE1 NX_Q9UPY8 31982 281 5.33 2 Cytosol;Cytoskeleton NA 0 PE1 NX_Q9UPZ3 127449 1129 5.35 11 Cytosol Hermansky-Pudlak syndrome 5 0 PE1 NX_Q9UPZ6 185363 1657 7.74 7 Cell projection;Cell membrane;Secreted NA 1 PE1 NX_Q9UPZ9 71427 632 9.79 6 Nucleolus;Cytosol;Cytoplasm;Nucleus;Cilium;Cilium basal body Juvenile myoclonic epilepsy 10;Endocrine-cerebroosteodysplasia 0 PE1 NX_Q9UQ03 54953 480 8.53 15 Cytoskeleton;Focal adhesion;Cell membrane NA 0 PE1 NX_Q9UQ05 111693 1017 8.87 17 Membrane NA 6 PE1 NX_Q9UQ07 48014 419 9.64 14 Cytoplasm;Nucleus;Cilium;Endoplasmic reticulum NA 0 PE2 NX_Q9UQ10 36382 334 6.76 19 Nucleoplasm;Cytoskeleton NA 0 PE1 NX_Q9UQ13 64888 582 8.65 10 Cytosol;Cytoplasm;Nucleus;Nucleoplasm Noonan syndrome-like disorder with loose anagen hair 1 0 PE1 NX_Q9UQ16 97746 869 8.51 1 Cytoplasm;Cytoskeleton;Golgi apparatus NA 0 PE1 NX_Q9UQ26 160403 1411 9.17 8 Cytosol;Synapse;Presynaptic cell membrane;Cell membrane NA 0 PE1 NX_Q9UQ35 299615 2752 12.05 16 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q9UQ49 48252 428 6.78 11 Nucleoplasm;Cytoplasmic vesicle;Cell membrane NA 0 PE1 NX_Q9UQ52 113956 1028 5.73 3 Cell membrane NA 0 PE1 NX_Q9UQ53 63198 548 7.72 5 Golgi apparatus membrane NA 1 PE1 NX_Q9UQ72 37146 335 6.65 19 Secreted NA 0 PE1 NX_Q9UQ74 47772 426 8.94 19 Secreted NA 0 PE2 NX_Q9UQ80 43787 394 6.13 12 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 NX_Q9UQ84 94103 846 8.59 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9UQ88 91362 783 5.28 1 Cytoplasm;Nucleus NA 0 PE1 NX_Q9UQ90 88235 795 8.79 16 Mitochondrion inner membrane Spastic paraplegia 7, autosomal recessive 2 PE1 NX_Q9UQB3 132656 1225 7.78 5 Perikaryon;Golgi apparatus;Nucleoplasm;Dendrite;Nucleus;Adherens junction;Cell junction NA 0 PE1 NX_Q9UQB8 60868 552 8.99 17 Ruffle;Cytosol;Cytoplasm;Cell membrane;Filopodium;Membrane;Cytoskeleton NA 0 PE1 NX_Q9UQB9 35591 309 8.96 19 Nucleus;Spindle;Centromere;Chromosome Spermatogenic failure 5 0 PE1 NX_Q9UQC2 74458 676 8.54 11 Cytoplasm;Cell membrane NA 0 PE1 NX_Q9UQC9 103941 943 6.56 1 Basal cell membrane;Nucleus;Cell junction;Cell membrane;Secreted NA 1 PE1 NX_Q9UQD0 225280 1980 5.95 12 Cytoplasmic vesicle;Cell membrane Seizures, benign familial infantile, 5;Epileptic encephalopathy, early infantile, 13;Cognitive impairment with or without cerebellar ataxia 24 PE1 NX_Q9UQE7 141542 1217 6.77 10 Nucleoplasm;Centromere;Nucleus;Chromosome Cornelia de Lange syndrome 3 0 PE1 NX_Q9UQF0 59866 538 8.8 7 Virion;Cell membrane NA 1 PE1 NX_Q9UQF2 77524 711 4.87 11 Endoplasmic reticulum membrane;Cytoplasm;Cell membrane;Perinuclear region;Nucleus;Mitochondrion membrane Diabetes mellitus, non-insulin-dependent 0 PE1 NX_Q9UQG0 109665 969 9.15 3 NA NA 0 PE2 NX_Q9UQK1 36445 317 7.15 10 NA NA 0 PE1 NX_Q9UQL6 121978 1122 5.83 17 Cytosol;Nucleus speckle;Nucleus;Golgi apparatus;Cytoplasm NA 0 PE1 NX_Q9UQM7 54088 478 6.61 5 Dendrite;Synapse;Dendritic spine;Postsynaptic density Mental retardation, autosomal dominant 53 0 PE1 NX_Q9UQN3 23907 213 8.81 3 Cytosol;Cytoplasm;Late endosome membrane;Nucleus Frontotemporal dementia, chromosome 3-linked;Amyotrophic lateral sclerosis 17 0 PE1 NX_Q9UQP3 144034 1299 5.41 1 Extracellular matrix NA 0 PE1 NX_Q9UQQ1 80558 740 5.2 11 Cytosol;Apical cell membrane NA 1 PE1 NX_Q9UQQ2 63225 575 6.75 12 Nucleoplasm Celiac disease 13;Diabetes mellitus, insulin-dependent 0 PE1 NX_Q9UQR0 77257 700 8.79 X Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q9UQR1 88976 794 6.03 3 Nucleus;Golgi apparatus Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 PE1 NX_Q9UQV4 44346 416 8.64 3 Cytoplasmic vesicle;Cytoplasmic vesicle membrane;Lysosome membrane NA 1 PE1 NX_Q9WJR5 108106 959 8.99 19 NA NA 0 PE2 NX_Q9XRX5 12913 114 9.14 1 Nucleoplasm;Cytoplasm;Cytoplasmic vesicle NA 0 PE1 NX_Q9Y210 106326 931 6.24 11 Cytosol;Nucleoplasm;Cell membrane Focal segmental glomerulosclerosis 2 6 PE1 NX_Q9Y215 47766 455 8.42 3 Synapse;Cell junction;Cell membrane Myasthenic syndrome, congenital, 5 0 PE1 NX_Q9Y216 75833 660 5.94 8 Cytoplasm NA 0 PE1 NX_Q9Y217 71968 621 7.59 13 Cytoplasm;Nucleus envelope NA 0 PE1 NX_Q9Y219 133367 1238 5.53 14 Cytoplasmic vesicle;Cytosol;Membrane NA 1 PE1 NX_Q9Y221 20463 180 8.66 16 Nucleolus;Nucleus NA 0 PE1 NX_Q9Y222 84471 760 4.5 7 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y223 79275 722 6.32 9 Cytosol;Cytoplasm Nonaka myopathy;Sialuria 0 PE1 NX_Q9Y224 28068 244 6.19 14 Cytosol;Cytoplasm;Nucleoplasm;Perinuclear region;Nucleus;Centrosome NA 0 PE1 NX_Q9Y225 17210 148 8.88 20 Golgi apparatus membrane;Golgi apparatus NA 1 PE1 NX_Q9Y226 60862 551 7.98 3 Membrane NA 12 PE1 NX_Q9Y227 70255 616 8.55 8 Cytoplasmic vesicle;Autophagosome membrane;Golgi apparatus membrane NA 2 PE1 NX_Q9Y228 63626 551 8.79 1 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q9Y230 51157 463 5.49 19 Nucleoplasm;Cytoplasm;Cytosol;Nucleus matrix;Membrane;Nucleus;Centrosome NA 0 PE1 NX_Q9Y231 42071 359 7.6 6 Nucleoplasm;Golgi stack membrane;Cytoskeleton;Cytosol NA 1 PE1 NX_Q9Y232 66482 598 9.5 6 Nucleus speckle;Nucleus;Chromosome NA 0 PE1 NX_Q9Y233 88412 779 6.15 6 Cytoplasm Striatal degeneration, autosomal dominant 2;Dyskinesia, limb and orofacial, infantile-onset 0 PE1 NX_Q9Y234 42479 373 8.66 2 Mitochondrion Lipoyltransferase 1 deficiency 0 PE1 NX_Q9Y235 25703 224 4.81 6 NA NA 0 PE1 NX_Q9Y236 56672 505 7.05 8 Nucleolus NA 0 PE1 NX_Q9Y237 13810 131 9.78 X Nucleolus;Cytoplasm;Mitochondrion matrix;Nucleus;Mitochondrion;Spindle NA 0 PE1 NX_Q9Y238 195684 1755 5.92 3 Cytosol;Cytoplasm Lung cancer;Esophageal cancer 0 PE1 NX_Q9Y239 107691 953 6.71 7 Mitochondrion;Cytoplasm;Apical cell membrane;Basolateral cell membrane;Cell membrane NA 0 PE1 NX_Q9Y240 35695 323 5.06 19 Cytoplasm;Centrosome;Secreted NA 0 PE1 NX_Q9Y241 10143 93 9.79 3 Mitochondrion;Nucleoplasm;Mitochondrion inner membrane;Mitochondrion membrane NA 2 PE1 NX_Q9Y242 37184 345 8.71 6 Nucleus NA 0 PE1 NX_Q9Y243 55775 479 5.72 1 Cytosol;Cytoplasm;Nucleus;Membrane Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 PE1 NX_Q9Y244 15789 141 5.01 13 Cytosol;Cytoplasm;Nucleus;Microsome membrane;Nucleus speckle Keratosis linearis with ichthyosis congenita and sclerosing keratoderma 0 PE1 NX_Q9Y247 38709 325 8.9 6 Nucleoplasm;Cytoskeleton NA 0 PE1 NX_Q9Y248 21428 185 5.29 16 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y250 66613 596 6.64 8 Synapse;Nucleolus;Cytoplasm;Cell membrane;Dendritic spine;Postsynaptic density Esophageal cancer 0 PE1 NX_Q9Y251 61149 543 9.32 4 Nucleoplasm;Cytoplasmic vesicle;Lysosome membrane;Nucleus;Secreted NA 0 PE1 NX_Q9Y252 78091 685 9.16 13 Axon;PML body;Nucleus;Nucleus membrane;Cytoplasm Esophageal cancer 0 PE1 NX_Q9Y253 78413 713 8.74 6 Cytosol;Nucleoplasm;Nucleus Xeroderma pigmentosum variant type 0 PE1 NX_Q9Y255 25181 219 9.56 5 Mitochondrion;Nucleoplasm;Mitochondrion intermembrane space NA 0 PE1 NX_Q9Y256 35833 329 8.33 11 Endoplasmic reticulum membrane NA 7 PE1 NX_Q9Y257 33747 313 6.05 19 Cytosol;Cytoskeleton;Cell membrane;Membrane NA 4 PE1 NX_Q9Y258 10648 94 10.22 7 Secreted NA 0 PE1 NX_Q9Y259 45271 395 5.35 22 Cytosol NA 0 PE1 NX_Q9Y261 48306 457 8.82 20 Nucleoplasm;Cytoplasm;Nucleus;Cell junction NA 0 PE1 NX_Q9Y262 66727 564 5.93 22 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9Y263 87157 795 5.96 9 Synapse;Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 PE1 NX_Q9Y264 56849 503 9.1 20 Secreted NA 0 PE1 NX_Q9Y265 50228 456 6.02 3 Nucleoplasm;Cytoplasm;Cytosol;Nucleus matrix;Membrane;Centrosome NA 0 PE1 NX_Q9Y266 38243 331 5.27 1 Cytosol;Cytoplasm;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9Y267 66684 594 8.71 3 Membrane NA 12 PE2 NX_Q9Y271 38541 337 9.43 X Cell membrane NA 7 PE1 NX_Q9Y272 31642 281 9.15 17 Nucleoplasm;Perinuclear region;Nucleus;Cell membrane NA 0 PE1 NX_Q9Y274 38214 331 9.13 3 Golgi apparatus membrane NA 1 PE1 NX_Q9Y275 31223 285 5.92 13 Cell membrane;Secreted NA 1 PE1 NX_Q9Y276 47534 419 8.63 2 Mitochondrion inner membrane Bjoernstad syndrome;GRACILE syndrome;Mitochondrial complex III deficiency, nuclear 1 1 PE1 NX_Q9Y277 30659 283 8.84 8 Mitochondrion;Mitochondrion outer membrane NA 19 PE1 NX_Q9Y278 41501 367 9.93 16 Golgi apparatus membrane NA 1 PE1 NX_Q9Y279 43987 399 5.93 X Cytosol;Nucleolus;Cell membrane;Membrane NA 1 PE1 NX_Q9Y281 18737 166 7.66 14 Nucleoplasm;Cytosol;Cytoskeleton;Nucleus matrix;Cell membrane Nemaline myopathy 7 0 PE1 NX_Q9Y282 43222 383 5.68 20 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;Nucleoplasm NA 2 PE1 NX_Q9Y283 117826 1065 9.43 9 Cytosol;Cytoplasm;Spindle;Nucleus;Membrane;Cytoskeleton;Cilium Nephronophthisis 2 0 PE1 NX_Q9Y284 12068 106 8.41 19 Endoplasmic reticulum;Membrane NA 2 PE1 NX_Q9Y285 57564 508 7.31 19 Cytosol;Cytoplasm NA 0 PE1 NX_Q9Y286 51143 467 6.89 19 Membrane NA 1 PE1 NX_Q9Y287 30338 266 5 13 Cytoplasmic vesicle;Golgi apparatus;Secreted;Cell membrane;Endosome membrane;Golgi apparatus membrane Cerebral amyloid angiopathy, ITM2B-related 2;Cerebral amyloid angiopathy, ITM2B-related 1;Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 1 PE1 NX_Q9Y289 68642 635 8.61 2 Cell junction;Membrane NA 13 PE1 NX_Q9Y291 12629 106 10.11 7 Mitochondrion NA 0 PE1 NX_Q9Y294 22969 204 4.29 6 Nucleus NA 0 PE1 NX_Q9Y295 40542 367 9 22 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9Y296 24340 219 5.84 11 Cytosol;cis-Golgi network;Endoplasmic reticulum NA 0 PE1 NX_Q9Y297 68867 605 8.3 10 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 NX_Q9Y2A4 77516 671 9.3 19 Nucleus NA 0 PE1 NX_Q9Y2A7 128790 1128 6.18 2 Cytosol;Lamellipodium membrane;Cell membrane NA 1 PE1 NX_Q9Y2A9 42534 372 8.96 19 Golgi apparatus membrane NA 1 PE1 NX_Q9Y2B0 20652 182 4.81 12 Cytosol;Endoplasmic reticulum NA 0 PE1 NX_Q9Y2B1 51146 443 8.57 12 Nucleoplasm;Golgi apparatus membrane;Golgi apparatus Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 1 PE1 NX_Q9Y2B2 28531 252 8.28 17 Nucleoplasm;Endoplasmic reticulum membrane;Cytosol Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome 1 PE1 NX_Q9Y2B4 34019 290 10.56 20 Cytoplasm;Nucleus NA 0 PE1 NX_Q9Y2B5 68956 631 7.1 16 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9Y2B9 7910 76 4.11 20 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9Y2C2 47673 406 8.88 6 Golgi apparatus membrane NA 1 PE1 NX_Q9Y2C3 36189 310 9.03 21 Golgi apparatus membrane NA 1 PE1 NX_Q9Y2C4 41085 368 8.45 3 Mitochondrion inner membrane NA 0 PE1 NX_Q9Y2C5 54055 497 7.45 6 Apical cell membrane;Cell membrane NA 10 PE2 NX_Q9Y2C9 91880 796 6.83 4 Phagosome membrane;Cell membrane;Endoplasmic reticulum;Membrane raft;Golgi apparatus NA 1 PE1 NX_Q9Y2D0 36434 317 7.7 X Mitochondrion NA 0 PE1 NX_Q9Y2D1 30674 282 4.9 19 Cytosol;Cytoplasm;Nucleus;Centrosome;Nucleoplasm NA 0 PE1 NX_Q9Y2D2 35985 325 9.22 1 Golgi apparatus membrane Arthrogryposis, mental retardation, and seizures 8 PE1 NX_Q9Y2D4 94201 811 6.03 2 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y2D5 94661 859 5.04 9 NA NA 0 PE1 NX_Q9Y2D8 71236 614 6.03 1 Cytoplasm;Centriolar satellite;Nucleus;Adherens junction;Cell junction;Cilium basal body NA 0 PE1 NX_Q9Y2D9 69744 606 8.92 17 Nucleus NA 0 PE1 NX_Q9Y2E4 170767 1556 7.12 10 Nucleoplasm;Cytoplasmic vesicle;Cytosol NA 0 PE1 NX_Q9Y2E5 113979 1009 6.74 4 Secreted NA 0 PE1 NX_Q9Y2E6 67258 619 9.65 11 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q9Y2E8 65422 581 6.07 20 Golgi apparatus membrane NA 11 PE1 NX_Q9Y2F5 247891 2266 5.32 5 Nucleoplasm;Cajal body;Nucleus NA 0 PE1 NX_Q9Y2F9 58420 522 7.42 20 Cytosol;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9Y2G0 92487 817 6.26 2 Cytosol;Cell membrane NA 0 PE1 NX_Q9Y2G1 124397 1151 7.06 11 Endoplasmic reticulum membrane;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA 1 PE1 NX_Q9Y2G2 48933 431 5.1 19 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9Y2G3 134190 1177 6.52 3 Cytosol;Endoplasmic reticulum;Microtubule organizing center;trans-Golgi network;Early endosome;Recycling endosome membrane NA 10 PE1 NX_Q9Y2G4 79971 727 9.42 6 Cytoplasmic vesicle NA 0 PE1 NX_Q9Y2G5 49976 429 6.15 21 Golgi apparatus;Endoplasmic reticulum NA 0 PE1 NX_Q9Y2G7 61558 519 9.16 19 Cytosol;Nucleus NA 0 PE1 NX_Q9Y2G8 90591 782 6.67 1 Cytoplasmic vesicle;Membrane NA 1 PE1 NX_Q9Y2G9 150275 1366 6.09 19 NA NA 0 PE1 NX_Q9Y2H0 108012 992 6.65 20 Nucleoplasm;Cytoplasm;Cell membrane;Cytosol;Focal adhesion;Membrane NA 0 PE1 NX_Q9Y2H1 54003 464 6.36 12 Cytoplasm;Cytoskeleton;Membrane NA 0 PE1 NX_Q9Y2H2 128407 1132 6.57 10 Recycling endosome;Clathrin-coated pit;Early endosome NA 0 PE1 NX_Q9Y2H5 117128 1048 9.15 1 Cytoplasmic vesicle;Cell junction;Microtubule organizing center NA 0 PE1 NX_Q9Y2H6 131852 1198 6.29 13 Golgi apparatus membrane;Endoplasmic reticulum NA 1 PE1 NX_Q9Y2H8 79142 683 9.18 9 Nucleoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9Y2H9 170677 1570 8.67 19 Cytoplasmic vesicle;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q9Y2I1 166629 1504 5.04 3 Cytoplasm;Recycling endosome;Cell membrane;Early endosome NA 0 PE1 NX_Q9Y2I2 60541 539 5.84 1 Cell membrane NA 0 PE1 NX_Q9Y2I6 156344 1382 5.01 20 Cytosol;Cytoplasm;Cytoskeleton;Centrosome NA 0 PE1 NX_Q9Y2I7 237136 2098 6.24 2 Endosome membrane;Nucleus speckle Corneal dystrophy, fleck 0 PE1 NX_Q9Y2I8 54665 494 6.79 10 Cytosol;Cytoplasm;Cytoskeleton;Centrosome NA 0 PE1 NX_Q9Y2I9 102743 924 8.57 12 Cytosol;Cell membrane NA 0 PE1 NX_Q9Y2J0 76872 694 8.62 12 Synapse;Membrane NA 0 PE1 NX_Q9Y2J2 120678 1087 5.09 18 Cytoplasm;Cytoskeleton;Cell junction;Cell membrane NA 0 PE1 NX_Q9Y2J4 85764 779 6.81 3 Recycling endosome;Cell junction NA 0 PE1 NX_Q9Y2J8 75564 665 5.4 1 Cytoplasm NA 0 PE1 NX_Q9Y2K1 82016 713 5.97 14 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_Q9Y2K2 144851 1321 6.3 11 Nucleoplasm;Cytoplasm NA 0 PE1 NX_Q9Y2K3 224619 1946 5.67 3 Nucleoplasm;Mitochondrion;Myofibril;Centrosome NA 0 PE1 NX_Q9Y2K5 106999 976 8.99 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y2K6 102003 914 5.75 9 Cytosol;Perinuclear region;Nucleus;Centrosome;Cell membrane NA 0 PE1 NX_Q9Y2K7 132793 1162 7.73 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y2K9 131887 1186 6.51 3 Cytoplasm;Cell membrane;Membrane NA 0 PE1 NX_Q9Y2L1 109003 958 6.69 13 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus;Cytosol NA 0 PE1 NX_Q9Y2L5 160997 1435 6.41 18 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;cis-Golgi network NA 0 PE1 NX_Q9Y2L6 118047 1034 8.79 3 Adherens junction;Cytoskeleton;Tight junction NA 0 PE1 NX_Q9Y2L8 96903 839 7.43 7 Cytoskeleton;Nucleus NA 0 PE1 NX_Q9Y2L9 80875 728 5.59 13 Cytosol;Cytoplasm;Cytoskeleton;Nucleolus NA 0 PE1 NX_Q9Y2M0 114225 1017 7.1 15 Nucleoplasm;Cytosol;Cytoskeleton;Nucleus Interstitial nephritis, karyomegalic 0 PE1 NX_Q9Y2M2 39845 353 9.26 3 Cytoplasm;Nucleus NA 0 PE1 NX_Q9Y2M5 67955 609 6.45 1 Golgi apparatus;Cytosol;Axon;Dendrite;Perinuclear region;Nucleus;trans-Golgi network NA 0 PE1 NX_Q9Y2N7 72433 669 5.67 19 Nucleus speckle;Cytosol;Cytoplasm;Cell membrane;Nucleoplasm;Nucleus;Mitochondrion NA 0 PE1 NX_Q9Y2P0 59631 537 8.88 19 Cytoskeleton;Nucleus NA 0 PE1 NX_Q9Y2P4 70112 619 8.75 5 Nucleus;Sarcolemma;Membrane NA 2 PE1 NX_Q9Y2P5 75385 690 7.8 19 Endoplasmic reticulum membrane NA 2 PE1 NX_Q9Y2P7 71871 627 9.12 19 Nucleus NA 0 PE1 NX_Q9Y2P8 40843 373 9.36 9 Nucleoplasm;Nucleolus NA 0 PE1 NX_Q9Y2Q0 131369 1164 6.41 4 Golgi apparatus;Endoplasmic reticulum;Cytoplasmic vesicle;Cytoplasmic granule;Cell membrane;Chromaffin granule membrane NA 10 PE1 NX_Q9Y2Q1 65779 563 9.23 19 Nucleus NA 0 PE1 NX_Q9Y2Q3 25497 226 8.51 7 Cytoplasm;Nucleus;Peroxisome NA 0 PE1 NX_Q9Y2Q5 13508 125 5.3 1 Cytoplasmic vesicle;Nucleoplasm;Lysosome membrane;Late endosome membrane;Cytoplasm Immunodeficiency due to defect in MAPBP-interacting protein 0 PE1 NX_Q9Y2Q9 20843 187 9.22 8 Mitochondrion NA 0 PE1 NX_Q9Y2R0 11731 106 9.59 17 Mitochondrion;Mitochondrion inner membrane NA 1 PE1 NX_Q9Y2R2 91705 807 7.5 1 Nucleoplasm;Cytoplasmic vesicle;Cell membrane;Cytoplasm Rheumatoid arthritis;Systemic lupus erythematosus;Diabetes mellitus, insulin-dependent;Vitiligo 0 PE1 NX_Q9Y2R4 67498 599 9.69 17 Nucleolus;Nucleus NA 0 PE1 NX_Q9Y2R5 14502 130 9.87 7 Mitochondrion NA 0 PE1 NX_Q9Y2R9 28134 242 10 17 Mitochondrion Combined oxidative phosphorylation deficiency 34 0 PE1 NX_Q9Y2S2 35419 319 5.81 13 Cytoplasm;Nucleolus;Nucleus;Cell membrane;Golgi apparatus NA 0 PE1 NX_Q9Y2S6 7066 64 10 3 Nucleolus;Nucleus NA 0 PE1 NX_Q9Y2S7 42033 368 8.8 17 Mitochondrion;Nucleus NA 0 PE1 NX_Q9Y2T1 93558 843 7.82 17 Cytosol;Cytoplasm;Nucleus;Cell membrane Oligodontia-colorectal cancer syndrome;Colorectal cancer 0 PE1 NX_Q9Y2T2 46939 418 6.47 10 Cytoplasmic vesicle membrane;Golgi apparatus NA 0 PE1 NX_Q9Y2T3 51003 454 5.44 9 Nucleus NA 0 PE1 NX_Q9Y2T4 51515 447 5.92 4 NA NA 0 PE1 NX_Q9Y2T5 41354 361 8.45 1 Cell membrane NA 7 PE2 NX_Q9Y2T6 36637 319 8.8 2 Cell membrane NA 7 PE1 NX_Q9Y2T7 38518 364 10.8 17 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9Y2U2 31947 307 6.7 11 Cell membrane;Membrane NA 4 PE2 NX_Q9Y2U5 69741 619 8.04 2 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9Y2U8 99997 911 7.32 12 Nucleus inner membrane;Nucleus membrane Buschke-Ollendorff syndrome 2 PE1 NX_Q9Y2U9 46099 406 6.13 14 Nucleoplasm;Nucleus;Nucleus membrane NA 0 PE1 NX_Q9Y2V0 32264 281 6.15 15 Nucleoplasm Anemia, congenital dyserythropoietic, 1B 0 PE1 NX_Q9Y2V2 15892 147 8.41 16 Cytoplasmic granule;P-body;Cytoplasm NA 0 PE1 NX_Q9Y2V3 36676 346 9.11 18 Nucleus Microphthalmia, isolated, 3 0 PE1 NX_Q9Y2V7 73279 657 5.51 13 Nucleus speckle;Golgi apparatus membrane;Golgi apparatus Congenital disorder of glycosylation 2L;Shaheen syndrome 0 PE1 NX_Q9Y2W1 108666 955 10.16 1 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_Q9Y2W2 69998 641 8.28 12 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9Y2W3 84541 782 8.01 1 Membrane Intellectual developmental disorder with neuropsychiatric features 12 PE1 NX_Q9Y2W6 62046 561 4.91 1 Cytosol;Cytoplasm;Mitochondrion;Centrosome NA 0 PE1 NX_Q9Y2W7 29231 256 5.23 2 Cell membrane;Nucleus;Endoplasmic reticulum;Golgi apparatus;Cytoplasm NA 0 PE1 NX_Q9Y2X0 96793 877 7.12 19 Nucleolus;Nucleus NA 0 PE1 NX_Q9Y2X3 59578 529 9.03 2 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9Y2X7 84341 761 6.33 17 Cytosol;Cytoplasm;Focal adhesion NA 0 PE1 NX_Q9Y2X8 16649 147 6.88 7 NA NA 0 PE1 NX_Q9Y2X9 96915 895 8.71 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y2Y0 18822 163 4.23 16 Cytoplasm;Nucleus;Mitochondrion intermembrane space;Spindle;Centrosome;Cilium basal body Retinitis pigmentosa with or without situs inversus 0 PE1 NX_Q9Y2Y1 12336 108 8.05 16 Cytosol;Nucleolus;Nucleus NA 0 PE1 NX_Q9Y2Y4 52963 487 9.36 19 Nucleus NA 0 PE1 NX_Q9Y2Y6 24611 226 4.81 17 Nucleoplasm;Endosome;Membrane Nanophthalmos 4 1 PE1 NX_Q9Y2Y8 25406 225 4.69 11 Cytoplasmic granule NA 0 PE1 NX_Q9Y2Y9 31180 288 9.63 15 Nucleus NA 0 PE1 NX_Q9Y2Z0 41024 365 5.07 13 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Cell membrane NA 0 PE1 NX_Q9Y2Z2 79964 717 8.59 6 Mitochondrion;Nucleoplasm;Cytosol Combined oxidative phosphorylation deficiency 10 0 PE1 NX_Q9Y2Z4 53199 477 9.07 12 Mitochondrion;Mitochondrion matrix;Nucleus Myopathy with lactic acidosis and sideroblastic anemia 2 0 PE1 NX_Q9Y2Z9 50870 468 6.81 14 Cell projection;Mitochondrion inner membrane;Golgi apparatus Coenzyme Q10 deficiency, primary, 6 0 PE1 NX_Q9Y303 43748 409 6.21 16 Cytosol;Nucleolus NA 0 PE1 NX_Q9Y305 49902 439 8.81 X Mitochondrion;Nucleoplasm;Cytosol;Cell membrane NA 0 PE1 NX_Q9Y312 43472 384 5.66 20 Cytosol NA 0 PE1 NX_Q9Y314 33172 301 9.05 19 Cytoplasm;Nucleus NA 0 PE1 NX_Q9Y315 35231 318 9.08 12 Cytoplasmic granule;Nucleus;Cytoplasm NA 0 PE1 NX_Q9Y316 33733 297 6.66 2 Cytoplasmic vesicle NA 0 PE1 NX_Q9Y320 34038 296 8.9 11 Nucleoplasm;Cytosol;Membrane NA 1 PE1 NX_Q9Y324 23370 198 9.74 14 Nucleoplasm;Nucleolus NA 0 PE1 NX_Q9Y328 19085 171 9.42 5 Golgi stack membrane;Lysosome lumen;trans-Golgi network membrane;Golgi apparatus;Early endosome membrane;Endosome membrane;Dendrite;Late endosome membrane;Multivesicular body membrane;Membrane;Cytoplasmic vesicle membrane NA 1 PE1 NX_Q9Y330 49148 459 7.26 6 Nucleus NA 0 PE1 NX_Q9Y333 10835 95 6.05 6 Nucleus NA 0 PE1 NX_Q9Y334 96060 891 5.74 6 Cytosol;Cell membrane;Secreted NA 0 PE1 NX_Q9Y336 50082 463 6.86 19 Membrane NA 1 PE1 NX_Q9Y337 32020 293 8.64 19 Secreted NA 0 PE1 NX_Q9Y342 19987 182 9.43 16 Membrane NA 4 PE1 NX_Q9Y343 19818 169 6.71 5 Cytoplasmic vesicle;Cytoplasmic vesicle membrane NA 0 PE1 NX_Q9Y345 87434 797 7.68 11 Cell membrane Hyperekplexia 3 12 PE1 NX_Q9Y365 33049 291 6.67 11 Cytoplasm;Flagellum;Membrane NA 0 PE1 NX_Q9Y366 49706 437 5.14 20 Cytosol;Cilium Short-rib thoracic dysplasia 16 with or without polydactyly 0 PE1 NX_Q9Y371 40796 365 5.78 1 Autophagosome membrane;Cytosol;Cytoplasm;Mitochondrion outer membrane;Golgi apparatus membrane;Midbody NA 0 PE1 NX_Q9Y375 37764 327 7.11 15 Mitochondrion;Cytosol NA 0 PE1 NX_Q9Y376 39869 341 6.43 2 Cytosol;Cytoplasm;Nucleolus NA 0 PE1 NX_Q9Y383 46514 392 10.02 7 Nucleoplasm;Nucleus speckle;Nucleus NA 0 PE1 NX_Q9Y385 35199 318 6.26 6 Endoplasmic reticulum membrane NA 1 PE1 NX_Q9Y388 37336 322 9.84 X Nucleolus;Nucleus membrane NA 0 PE1 NX_Q9Y394 38299 339 8.59 14 Mitochondrion;Nucleoplasm NA 0 PE1 NX_Q9Y397 40916 364 8.12 X Endoplasmic reticulum membrane;Cytosol;Golgi apparatus membrane;Golgi apparatus Mental retardation, X-linked, syndromic, ZDHHC9-related 4 PE1 NX_Q9Y399 33249 296 9.37 9 Mitochondrion Combined oxidative phosphorylation deficiency 36 0 PE1 NX_Q9Y3A0 29657 265 9.29 9 Mitochondrion;Mitochondrion inner membrane Coenzyme Q10 deficiency, primary, 7 0 PE1 NX_Q9Y3A2 30447 253 10.16 1 Nucleolus;Nucleus NA 0 PE1 NX_Q9Y3A3 26032 225 5.5 2 Golgi stack membrane;Perinuclear region;Golgi apparatus;Membrane NA 0 PE1 NX_Q9Y3A4 32334 280 9.61 22 NA NA 0 PE1 NX_Q9Y3A5 28764 250 8.91 7 Nucleolus;Nucleoplasm;Cytoplasm;Cytosol;Nucleus;Spindle Shwachman-Diamond syndrome 1 0 PE1 NX_Q9Y3A6 26005 229 4.71 1 Endoplasmic reticulum membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE1 NX_Q9Y3B1 21495 194 6.24 20 Nucleus NA 0 PE1 NX_Q9Y3B2 21452 195 8.51 10 Nucleoplasm;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9Y3B3 25172 224 6.43 5 COPI-coated vesicle membrane;Endoplasmic reticulum membrane;COPII-coated vesicle membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane;cis-Golgi network membrane NA 1 PE1 NX_Q9Y3B4 14585 125 9.41 2 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y3B6 23061 208 5.53 14 Cytoplasm;Golgi apparatus NA 0 PE1 NX_Q9Y3B7 20683 192 9.91 11 Mitochondrion NA 0 PE1 NX_Q9Y3B8 26833 237 6.4 11 Nucleolus;Cytoplasm;Mitochondrion matrix;Focal adhesion;Nucleus;Mitochondrion intermembrane space;Mitochondrion NA 0 PE1 NX_Q9Y3B9 31484 282 5.39 1 Mitochondrion;Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9Y3C0 21173 194 4.35 12 Cytoplasmic vesicle;Early endosome NA 0 PE1 NX_Q9Y3C1 21188 178 9.94 5 Nucleolus NA 0 PE1 NX_Q9Y3C4 19661 175 6.31 2 Cytosol;Nucleus Galloway-Mowat syndrome 5 0 PE1 NX_Q9Y3C5 17444 154 4.64 1 Cytoplasm;Recycling endosome;Nucleus;Early endosome NA 0 PE1 NX_Q9Y3C6 18237 166 7.78 6 Nucleolus;Nucleus NA 0 PE1 NX_Q9Y3C7 15805 131 8.72 17 Nucleus NA 0 PE1 NX_Q9Y3C8 19458 167 6.91 1 Cytosol;Nucleus speckle NA 0 PE1 NX_Q9Y3D0 17663 163 5.07 16 Nucleoplasm;Cytosol;Spindle;Nucleus NA 0 PE1 NX_Q9Y3D2 19536 182 8.95 10 Mitochondrion NA 0 PE1 NX_Q9Y3D3 15345 137 9.59 10 Mitochondrion;Cytosol Combined oxidative phosphorylation deficiency 2 0 PE1 NX_Q9Y3D5 15850 142 9.63 4 Mitochondrion NA 0 PE1 NX_Q9Y3D6 16938 152 8.84 7 Mitochondrion;Peroxisome membrane;Mitochondrion outer membrane NA 1 PE1 NX_Q9Y3D7 13825 125 9.69 16 Mitochondrion inner membrane Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 0 PE1 NX_Q9Y3D8 20061 172 4.48 5 Nucleoplasm;Cajal body NA 0 PE1 NX_Q9Y3D9 21771 190 8.94 17 Mitochondrion;Nucleus membrane NA 0 PE1 NX_Q9Y3E0 15426 138 10.36 12 Nucleoplasm;Cytoplasmic vesicle;Golgi apparatus membrane;Endoplasmic reticulum NA 4 PE1 NX_Q9Y3E1 22620 203 7.7 15 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y3E2 14289 137 7.82 1 Mitochondrion NA 0 PE1 NX_Q9Y3E5 19194 179 8.95 17 Mitochondrion Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 0 PE1 NX_Q9Y3E7 25073 222 5.1 2 Cytosol;Endosome;Late endosome membrane;Membrane NA 0 PE1 NX_Q9Y3F1 6535 56 4.49 6 NA NA 0 PE5 NX_Q9Y3F4 38438 350 4.98 12 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q9Y3I0 55210 505 6.77 22 Cytoplasmic vesicle;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 NX_Q9Y3I1 58503 522 6.11 22 Cytosol;Cytoplasm;Mitochondrion;Nucleus Parkinson disease 15 0 PE1 NX_Q9Y3L3 75713 701 6.33 22 Phagocytic cup;Cytosol;Nucleus;Adherens junction;Cell projection;Tight junction NA 0 PE1 NX_Q9Y3L5 20745 183 4.87 X Cytoplasm;Recycling endosome membrane NA 0 PE1 NX_Q9Y3M2 14470 126 9.09 22 Centriole;Nucleus speckle;Golgi apparatus;trans-Golgi network;Cilium basal body NA 0 PE1 NX_Q9Y3M8 124967 1113 6.57 13 Nucleolus;Nucleus membrane;Cytosol;Cytoplasm;Lipid droplet;Membrane;Mitochondrion membrane NA 0 PE1 NX_Q9Y3M9 86875 751 9.74 20 Nucleus speckle;Nucleus;Cell membrane NA 0 PE1 NX_Q9Y3N9 36101 320 9.24 6 Cell membrane NA 7 PE2 NX_Q9Y3P4 40484 386 6.1 22 Cytoskeleton;Membrane NA 5 PE1 NX_Q9Y3P8 21126 196 5.91 9 Cell membrane NA 1 PE1 NX_Q9Y3P9 121737 1069 5.15 9 Cytosol;Centrosome NA 0 PE1 NX_Q9Y3Q0 83592 740 8.56 11 Nucleus;Cell membrane NA 1 PE1 NX_Q9Y3Q3 24777 217 5.4 15 Endoplasmic reticulum membrane;Golgi stack membrane;Golgi apparatus;COPI-coated vesicle membrane;cis-Golgi network membrane;Endoplasmic reticulum-Golgi intermediate compartment membrane NA 1 PE1 NX_Q9Y3Q4 129042 1203 9.07 15 Cell membrane Sick sinus syndrome 2;Brugada syndrome 8 6 PE1 NX_Q9Y3Q7 82856 739 7.16 8 Membrane NA 1 PE1 NX_Q9Y3Q8 41026 395 6.69 7 Cytosol;Nucleus NA 0 PE1 NX_Q9Y3R0 122422 1128 6.03 12 Cytoplasmic vesicle;Postsynaptic cell membrane;Endoplasmic reticulum Fraser syndrome 3 0 PE1 NX_Q9Y3R4 42254 380 6.39 2 Cytoplasm NA 0 PE1 NX_Q9Y3R5 258230 2298 5.9 21 Nucleoplasm;Mitochondrion;Golgi apparatus membrane NA 0 PE1 NX_Q9Y3S1 242676 2297 5.79 9 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9Y3S2 36201 320 5.79 4 Centromere;Nucleolus;Nucleus NA 0 PE1 NX_Q9Y3T6 49092 440 5.47 8 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9Y3T9 84919 749 5.46 1 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9Y3U8 12254 105 11.59 19 Cytosol;Cytoplasm;Nucleolus;Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q9Y3V2 30543 267 5.81 1 Cytoplasm;Nucleus NA 0 PE1 NX_Q9Y3X0 59703 531 5.32 19 Cytosol;Cytoplasm NA 0 PE1 NX_Q9Y3Y2 26397 248 12.24 1 Nucleoplasm;Nucleus speckle;Nucleolus;Nucleus NA 0 PE1 NX_Q9Y3Y4 45116 419 6.38 15 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y3Z3 72201 626 6.69 20 Nucleoplasm;Nucleus;Cell membrane;Chromosome Aicardi-Goutieres syndrome 5;Chilblain lupus 2 0 PE1 NX_Q9Y421 13178 112 9.99 19 Nucleolus;Nucleus NA 0 PE1 NX_Q9Y426 75533 696 6.47 21 Nucleoplasm;Membrane NA 1 PE1 NX_Q9Y442 17735 160 8.46 22 Membrane NA 1 PE2 NX_Q9Y446 87082 797 9.39 11 Nucleoplasm;Cytosol;Nucleus;Cell junction;Desmosome NA 0 PE1 NX_Q9Y448 35438 316 5.98 15 Kinetochore;Cytosol;Spindle pole;Nucleus;Spindle;Cytoskeleton NA 0 PE1 NX_Q9Y450 75473 684 6.17 6 Cytosol;Nucleus NA 0 PE1 NX_Q9Y458 57910 520 6.92 X Nucleus Cleft palate with or without ankyloglossia, X-linked;Abruzzo-Erickson syndrome 0 PE1 NX_Q9Y462 86245 761 6.4 X Nucleoplasm;Nucleus Mental retardation, X-linked 97 0 PE1 NX_Q9Y463 69198 629 9.25 19 Nucleus Abdominal obesity-metabolic syndrome 3 0 PE1 NX_Q9Y466 42589 385 9.18 6 Nucleus NA 0 PE1 NX_Q9Y467 105309 1007 5.89 14 Cytoplasmic vesicle;Nucleus Coloboma, ocular, autosomal recessive 0 PE1 NX_Q9Y468 92297 840 5.65 20 Nucleus NA 0 PE1 NX_Q9Y471 58380 501 5.96 6 Cytoplasm NA 0 PE1 NX_Q9Y473 81609 711 8.98 19 Cytosol;Cytoplasm;Cytoskeleton;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9Y478 30382 270 5.94 12 Nucleoplasm;Cytosol NA 0 PE1 NX_Q9Y483 67090 593 9 1 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y484 39868 360 6.74 X Preautophagosomal structure;Nucleolus Neurodegeneration with brain iron accumulation 5 0 PE1 NX_Q9Y485 337839 3027 5.91 5 Cytosol;Nucleolus NA 0 PE1 NX_Q9Y487 98082 856 6.18 12 Cytosol;Endosome membrane;Cell membrane Cutis laxa, autosomal recessive, 2A;Wrinkly skin syndrome 8 PE1 NX_Q9Y490 269767 2541 5.77 9 Cytosol;Cell membrane;Microtubule organizing center;Focal adhesion;Ruffle membrane;Cell surface;Cytoskeleton NA 0 PE1 NX_Q9Y493 305630 2812 5.76 7 Cell membrane NA 1 PE1 NX_Q9Y496 80041 699 6.16 5 Centriole;Cytosol;Cytoskeleton;Cilium;Nucleoplasm NA 0 PE1 NX_Q9Y4A0 59912 524 8.26 11 Cytoskeleton;Nucleus NA 0 PE1 NX_Q9Y4A5 437600 3859 8.49 7 Nucleoplasm;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9Y4A8 76154 694 5.21 7 Nucleoplasm;Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9Y4A9 35254 318 9.07 19 Cell membrane NA 7 PE2 NX_Q9Y4B4 162769 1467 5.75 3 Cytosol;Nucleus NA 0 PE1 NX_Q9Y4B5 209526 1905 6.03 18 Midbody;Cytoskeleton;Apical cell membrane;Spindle pole;Lateral cell membrane NA 0 PE1 NX_Q9Y4B6 169007 1507 4.92 3 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9Y4C0 180599 1643 5.33 14 Membrane NA 1 PE1 NX_Q9Y4C1 147341 1321 8.4 2 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9Y4C2 102126 921 6.12 7 Cell membrane NA 0 PE1 NX_Q9Y4C4 116950 1052 8.02 8 Cytosol;Cytoplasm;Nucleoplasm NA 0 PE1 NX_Q9Y4C5 57857 530 10 3 trans-Golgi network membrane;Golgi apparatus NA 1 PE1 NX_Q9Y4C8 107332 960 6.13 12 Nucleoplasm;Cytoplasm;Nucleolus;Chromosome NA 0 PE1 NX_Q9Y4D1 123473 1078 6.81 14 Cytosol;Cytoplasm;Cell membrane;Cilium basal body NA 0 PE1 NX_Q9Y4D2 114952 1042 5.95 11 Cell membrane Spinocerebellar ataxia 20 4 PE1 NX_Q9Y4D7 212007 1925 6.8 3 Lamellipodium membrane;Cell membrane NA 1 PE1 NX_Q9Y4D8 439344 3996 5.82 12 Cytoplasmic vesicle;Nucleoplasm;Membrane NA 1 PE1 NX_Q9Y4E1 144911 1320 4.66 10 Early endosome membrane;Cell membrane NA 0 PE1 NX_Q9Y4E5 121484 1061 6.3 6 Nucleoplasm;PML body;Nucleus NA 0 PE1 NX_Q9Y4E6 163810 1490 6.47 18 Nucleoplasm;Cytosol NA 0 PE1 NX_Q9Y4E8 112419 981 5.06 12 Cytosol;Cytoplasm;Mitochondrion;Nucleus NA 0 PE1 NX_Q9Y4F1 118633 1045 8.33 13 Synaptosome;Synapse;Dendritic spine;Cytosol;Cell membrane;Dendrite;Filopodium NA 0 PE1 NX_Q9Y4F3 192859 1742 8.14 16 Cytoplasmic vesicle;Golgi apparatus;Peroxisome NA 0 PE1 NX_Q9Y4F4 189360 1720 8.73 14 Nucleoplasm;Cytoskeleton;Cilium NA 0 PE1 NX_Q9Y4F5 171688 1589 6.39 14 Cytosol;Cytoskeleton;Centrosome NA 0 PE1 NX_Q9Y4F9 118519 1068 5.29 6 Apical cell membrane;Cytoplasm;Stereocilium;Filopodium;Cytoskeleton;Stereocilium membrane Deafness, autosomal recessive, 104 0 PE1 NX_Q9Y4G2 117443 1056 6.08 17 Endosome membrane;Lysosome membrane;Lysosome;Cytoplasm;Cytoplasmic vesicle;Nucleolus Osteopetrosis, autosomal recessive 6;Osteopetrosis, autosomal dominant 3 0 PE1 NX_Q9Y4G6 271613 2542 5.4 15 Synapse;Cytosol;Cytoplasm;Cell membrane;Focal adhesion;Cytoskeleton NA 0 PE1 NX_Q9Y4G8 167417 1499 6.21 4 Late endosome;Nucleoplasm;Cytoplasm;Cell membrane;Cell junction;Cytoplasmic vesicle;Perinuclear region;Centrosome NA 0 PE1 NX_Q9Y4H2 137334 1338 8.9 13 Cytosol NA 0 PE1 NX_Q9Y4H4 17866 160 4.95 6 Cytoplasm NA 0 PE1 NX_Q9Y4I1 215405 1855 8.7 15 Focal adhesion;Microtubule organizing center Elejalde syndrome;Griscelli syndrome 1;Griscelli syndrome 3 0 PE1 NX_Q9Y4I5 55025 508 5.5 11 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9Y4J8 83901 743 6.43 18 Synapse;Nucleoplasm;Cytoplasm;Cell membrane;Cytoskeleton;Cell junction Left ventricular non-compaction 1 0 PE1 NX_Q9Y4K0 86725 774 5.95 8 Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Basement membrane;Nucleus;Chromosome NA 0 PE1 NX_Q9Y4K1 188676 1723 5.61 6 Cytosol;Cytoskeleton;Nucleus NA 0 PE1 NX_Q9Y4K3 59573 522 6 11 Nucleolus;Cytoplasm;Lipid droplet;Cell cortex;Nucleus;Mitochondrion NA 0 PE1 NX_Q9Y4K4 95024 846 7.97 14 Cytosol;Cytoplasm;Cell membrane NA 0 PE1 NX_Q9Y4L1 111335 999 5.16 11 Endoplasmic reticulum lumen NA 0 PE1 NX_Q9Y4L5 33703 304 5.39 1 Mitochondrion;Cytosol;Nucleolus NA 0 PE1 NX_Q9Y4M8 16018 146 11.24 8 NA NA 0 PE5 NX_Q9Y4P1 44294 393 4.91 2 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9Y4P3 49798 447 9.52 7 Cytosol NA 0 PE1 NX_Q9Y4P8 49408 454 6.04 7 Nucleoplasm;Cytoplasm;Preautophagosomal structure membrane;Cytosol NA 0 PE1 NX_Q9Y4P9 26987 236 9.7 20 Cytoplasm;Cytoskeleton;Flagellum;Cilium axoneme NA 0 PE1 NX_Q9Y4R7 87414 772 8.73 3 Cytoskeleton;Cilium;Cilium axoneme NA 0 PE1 NX_Q9Y4R8 91747 837 5.54 16 Cytosol;Cytoplasm;Telomere;Nucleus;Membrane You-Hoover-Fong syndrome 0 PE1 NX_Q9Y4U1 31728 282 7.69 1 Nucleoplasm;Cytosol;Cell membrane;Cytoplasm Methylmalonic aciduria and homocystinuria, cblC type 0 PE1 NX_Q9Y4W2 83065 734 4.64 X Cytosol;Nucleoplasm;Cytoplasm;Nucleolus;Microtubule organizing center Wilson-Turner X-linked mental retardation syndrome 0 PE1 NX_Q9Y4W6 88584 797 8.81 18 Mitochondrion;Mitochondrion inner membrane Spinocerebellar ataxia 28;Spastic ataxia 5, autosomal recessive 2 PE1 NX_Q9Y4X0 35463 333 8.96 X Nucleus Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis;Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 PE1 NX_Q9Y4X1 59926 527 9.07 4 Membrane NA 1 PE1 NX_Q9Y4X3 12618 112 8.95 9 Secreted NA 0 PE1 NX_Q9Y4X4 44240 402 9.74 13 Nucleoplasm;Cytosol;Nucleus NA 0 PE1 NX_Q9Y4X5 64118 557 4.97 15 Cajal body;Nucleus;Golgi apparatus;Cytoplasm NA 0 PE1 NX_Q9Y4Y9 9937 91 4.42 7 Nucleus NA 0 PE1 NX_Q9Y4Z0 15350 139 10.02 19 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9Y4Z2 23077 214 9.61 10 Nucleus Diarrhea 4, malabsorptive, congenital 0 PE1 NX_Q9Y508 25694 228 6.99 20 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9Y512 51976 469 6.44 22 Mitochondrion;Cytoplasm;Mitochondrion outer membrane NA 0 PE1 NX_Q9Y519 45562 407 6.45 22 Nucleoplasm;Cytosol;Golgi apparatus;Membrane NA 7 PE1 NX_Q9Y520 316911 2896 9.17 1 Cytosol NA 0 PE1 NX_Q9Y530 17025 152 8.55 6 Nucleolus;Nucleus NA 0 PE1 NX_Q9Y534 16786 153 7.02 22 Cytosol;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9Y535 22918 204 4.47 22 Nucleoplasm;Cytoplasmic vesicle;Nucleus;Centrosome NA 0 PE1 NX_Q9Y536 18182 164 9.32 1 Cytoplasm NA 0 PE1 NX_Q9Y543 18470 173 9.88 1 Nucleus NA 0 PE2 NX_Q9Y546 48571 428 7.2 1 Nucleoplasm NA 0 PE1 NX_Q9Y547 16297 144 4.93 1 Cytosol;Nucleoplasm;Cilium NA 0 PE1 NX_Q9Y548 34277 306 5.13 1 Nucleoplasm;cis-Golgi network membrane;Late endosome membrane;trans-Golgi network membrane;Endoplasmic reticulum NA 5 PE1 NX_Q9Y561 94984 859 5.07 8 Mitochondrion;Coated pit;Nucleolus;Cell membrane;Membrane NA 1 PE1 NX_Q9Y566 224959 2161 8.29 19 Cytoplasm;Synapse;Cell membrane;Postsynaptic density NA 0 PE1 NX_Q9Y570 42315 386 5.67 11 Nucleus NA 0 PE1 NX_Q9Y572 56887 518 6.08 14 Cytosol;Mitochondrion;Cell membrane NA 0 PE1 NX_Q9Y573 65261 584 5.49 1 Cytoskeleton NA 0 PE1 NX_Q9Y574 48195 426 7.57 7 NA NA 0 PE1 NX_Q9Y575 57745 518 5.84 2 NA NA 0 PE1 NX_Q9Y576 37014 335 8.55 2 Nucleoplasm NA 0 PE1 NX_Q9Y577 54418 477 6.62 1 Cytoplasmic vesicle NA 0 PE1 NX_Q9Y580 30504 266 9.56 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y581 24860 213 9.71 9 Secreted NA 0 PE1 NX_Q9Y584 20031 194 7.51 17 Mitochondrion inner membrane NA 3 PE1 NX_Q9Y585 34396 309 8.81 17 Cell membrane NA 7 PE2 NX_Q9Y586 40923 359 8.87 4 Cytoplasm;Nucleus Microphthalmia/coloboma and skeletal dysplasia syndrome 0 PE1 NX_Q9Y587 17005 144 5.08 14 Cytoplasmic vesicle;trans-Golgi network membrane Spastic paraplegia 52, autosomal recessive 0 PE1 NX_Q9Y592 82940 701 5.9 12 Centriole;Nucleus;Golgi apparatus Nephronophthisis 18 0 PE1 NX_Q9Y597 88984 815 6.58 1 Cytosol;Cell membrane NA 0 PE1 NX_Q9Y5A6 53658 473 7.81 7 Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q9Y5A7 70538 615 5.71 7 Nucleolus;Nucleus NA 0 PE1 NX_Q9Y5A9 62334 579 8.87 1 Cytosol;Cytoplasm;P-body;Nucleus NA 0 PE1 NX_Q9Y5B0 104399 961 5.17 18 Nucleoplasm;Spindle pole;Midbody;Cytoplasmic vesicle;Nucleus;Centrosome Congenital cataracts, facial dysmorphism, and neuropathy 0 PE1 NX_Q9Y5B6 104804 917 5.52 21 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y5B8 42492 376 6.03 1 Mitochondrion NA 0 PE1 NX_Q9Y5B9 119914 1047 5.5 14 Nucleolus;Nucleus;Chromosome NA 0 PE1 NX_Q9Y5C1 53637 460 6.24 1 Lamellipodium;Secreted Hypobetalipoproteinemia, familial, 2 0 PE1 NX_Q9Y5E1 87099 797 4.88 5 Cell membrane NA 1 PE2 NX_Q9Y5E2 86707 793 4.9 5 Cell membrane NA 1 PE1 NX_Q9Y5E3 87350 794 4.89 5 Cytosol;Nucleus;Cell membrane NA 1 PE1 NX_Q9Y5E4 86423 795 4.87 5 Cell membrane NA 1 PE1 NX_Q9Y5E5 87270 795 5.05 5 Cytosol;Cytoskeleton;Cell membrane NA 1 PE2 NX_Q9Y5E6 86773 796 4.88 5 Cytoplasmic vesicle;Cell membrane NA 1 PE1 NX_Q9Y5E7 87254 798 4.76 5 Nucleoplasm;Cell membrane NA 1 PE1 NX_Q9Y5E8 86329 787 4.74 5 Mitochondrion;Cell membrane NA 1 PE1 NX_Q9Y5E9 87548 798 4.81 5 Cytoplasmic vesicle;Cell membrane NA 1 PE1 NX_Q9Y5F0 87552 798 4.81 5 Cell membrane NA 1 PE1 NX_Q9Y5F1 86770 795 4.72 5 Cell membrane NA 1 PE2 NX_Q9Y5F2 87088 797 4.74 5 Cell membrane NA 1 PE1 NX_Q9Y5F3 90491 818 5.2 5 Cell membrane NA 1 PE2 NX_Q9Y5F6 101921 944 4.85 5 Cell membrane NA 1 PE1 NX_Q9Y5F7 101214 938 5.16 5 Cell membrane NA 1 PE1 NX_Q9Y5F8 100974 929 4.94 5 Cell membrane NA 1 PE1 NX_Q9Y5F9 101043 930 5.09 5 Cell membrane NA 1 PE2 NX_Q9Y5G0 99875 923 4.92 5 Cell membrane NA 1 PE1 NX_Q9Y5G1 101204 929 4.87 5 Cell membrane NA 1 PE1 NX_Q9Y5G2 100875 931 4.89 5 Cell membrane NA 1 PE1 NX_Q9Y5G3 100360 927 4.92 5 Cell membrane NA 1 PE2 NX_Q9Y5G4 101687 932 4.91 5 Cell membrane NA 1 PE1 NX_Q9Y5G5 101480 932 5.1 5 Cell membrane NA 1 PE2 NX_Q9Y5G6 101722 932 4.73 5 Cell membrane NA 1 PE1 NX_Q9Y5G7 100871 932 4.75 5 Cell membrane NA 1 PE1 NX_Q9Y5G8 100935 931 4.71 5 Cell membrane NA 1 PE2 NX_Q9Y5G9 103968 962 4.79 5 Cell membrane NA 1 PE1 NX_Q9Y5H0 100971 932 4.86 5 Cell membrane NA 1 PE1 NX_Q9Y5H1 101484 932 4.85 5 Cell membrane NA 1 PE1 NX_Q9Y5H2 101543 935 4.81 5 Cell membrane NA 1 PE1 NX_Q9Y5H3 101447 936 4.78 5 Cell membrane NA 1 PE1 NX_Q9Y5H4 101226 931 4.87 5 Cell membrane NA 1 PE2 NX_Q9Y5H5 102402 950 4.94 5 Cell membrane NA 1 PE2 NX_Q9Y5H6 103051 950 5.13 5 Cell membrane NA 1 PE2 NX_Q9Y5H7 102048 936 5.28 5 Cell membrane NA 1 PE1 NX_Q9Y5H8 102428 950 4.95 5 Cell membrane NA 1 PE2 NX_Q9Y5H9 102063 948 5.08 5 Cell membrane NA 1 PE1 NX_Q9Y5I0 102483 950 5.08 5 Cell membrane NA 1 PE2 NX_Q9Y5I1 103298 949 5.22 5 Cytosol;Cytoplasmic vesicle;Cell junction;Cell membrane NA 1 PE2 NX_Q9Y5I2 102875 948 5.04 5 Cell membrane;Secreted NA 1 PE1 NX_Q9Y5I3 102952 950 5.03 5 Cell membrane;Secreted NA 1 PE2 NX_Q9Y5I4 109450 1007 5.26 5 Nucleoplasm;Mitochondrion;Cell membrane NA 1 PE1 NX_Q9Y5I7 33836 305 8.26 3 Tight junction;Cell membrane Hypomagnesemia 3 4 PE1 NX_Q9Y5J1 62004 556 8.93 17 Nucleolus;Nucleus;Nucleus membrane NA 0 PE1 NX_Q9Y5J3 32613 304 8.99 8 Nucleoplasm;Cytosol;Nucleus;Nucleus membrane NA 0 PE1 NX_Q9Y5J5 13891 127 9.72 1 Cytoplasm;Membrane NA 0 PE1 NX_Q9Y5J6 11586 103 6.95 11 Mitochondrion inner membrane NA 0 PE1 NX_Q9Y5J7 10378 89 6.71 14 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_Q9Y5J9 9344 83 5.02 11 Mitochondrion inner membrane NA 0 PE1 NX_Q9Y5K1 44537 396 9.05 20 Nucleus NA 0 PE2 NX_Q9Y5K2 27032 254 4.8 19 Secreted Amelogenesis imperfecta, hypomaturation type, 2A1 0 PE1 NX_Q9Y5K3 41940 369 5.99 X Endoplasmic reticulum NA 0 PE1 NX_Q9Y5K5 37607 329 5.23 1 Mitochondrion;Cytoplasm;Nucleus;Nucleoplasm NA 0 PE1 NX_Q9Y5K6 71451 639 6.07 6 Ruffle;Cytosol;Cytoplasm;Cell membrane;Cytoskeleton;Cell junction Focal segmental glomerulosclerosis 3 0 PE1 NX_Q9Y5K8 28263 247 9.36 14 Nucleoplasm;Membrane NA 0 PE1 NX_Q9Y5L0 104203 923 5.35 7 Cytoplasmic vesicle;Cytoplasm;Nucleus Limb-girdle muscular dystrophy 1F 0 PE1 NX_Q9Y5L2 6950 63 6.71 7 Nucleoplasm;Membrane;Lipid droplet;Secreted NA 1 PE1 NX_Q9Y5L3 53665 495 8.58 9 Endoplasmic reticulum membrane;Cell membrane NA 2 PE1 NX_Q9Y5L4 10500 95 8.42 19 Mitochondrion;Nucleolus;Mitochondrion inner membrane NA 0 PE1 NX_Q9Y5L5 6908 61 8.61 1 NA NA 0 PE2 NX_Q9Y5M1 11973 114 7.75 17 NA NA 0 PE5 NX_Q9Y5M6 5321 44 9.78 1 NA NA 0 PE2 NX_Q9Y5M8 29702 271 9.17 3 Endoplasmic reticulum membrane;Cell membrane NA 1 PE1 NX_Q9Y5N1 48671 445 9.43 20 Cell membrane NA 7 PE1 NX_Q9Y5N5 22957 214 5.02 21 Nucleoplasm;Nucleus;Centrosome NA 0 PE1 NX_Q9Y5N6 28107 252 8.91 16 Nucleolus;Nucleus Meier-Gorlin syndrome 3 0 PE1 NX_Q9Y5P0 34912 310 8.35 11 Cell membrane NA 7 PE2 NX_Q9Y5P1 35373 312 8.94 11 Cell membrane NA 7 PE2 NX_Q9Y5P2 14430 127 10.33 X NA NA 0 PE2 NX_Q9Y5P3 57180 530 5.14 X Cell membrane NA 0 PE1 NX_Q9Y5P4 70835 624 5.29 5 Nucleoplasm;Cytoplasm;Endoplasmic reticulum;Golgi apparatus Mental retardation, autosomal dominant 34 0 PE1 NX_Q9Y5P6 39834 360 6.16 3 Cytoplasm;Nucleus Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14;Muscular dystrophy-dystroglycanopathy limb-girdle C14;Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 0 PE1 NX_Q9Y5P8 65061 575 5.01 X Nucleus;Endoplasmic reticulum NA 0 PE1 NX_Q9Y5Q0 51145 445 7.42 11 Endoplasmic reticulum membrane;Nucleolus NA 4 PE1 NX_Q9Y5Q3 35792 323 7.17 20 Cytosol;Nucleolus;Nucleus;Golgi apparatus Duane retraction syndrome 3 with or without deafness;Multicentric carpotarsal osteolysis syndrome 0 PE1 NX_Q9Y5Q5 116486 1042 4.87 4 Cytoskeleton;Nucleus;Cell membrane;Secreted Pre-eclampsia/eclampsia 5 1 PE1 NX_Q9Y5Q6 15333 135 6.81 1 Secreted NA 0 PE1 NX_Q9Y5Q8 59571 519 6.47 9 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y5Q9 101272 886 4.98 2 Nucleus;Nucleus membrane NA 0 PE1 NX_Q9Y5R2 73231 645 9.3 20 Nucleolus;trans-Golgi network membrane;Cell membrane;Extracellular matrix NA 1 PE1 NX_Q9Y5R4 38231 338 6.22 3 Mitochondrion NA 0 PE1 NX_Q9Y5R5 61814 561 6.37 9 Nucleus NA 0 PE2 NX_Q9Y5R6 39473 373 7.54 9 Nucleus 46,XY sex reversal 4;Testicular germ cell tumor 0 PE1 NX_Q9Y5R8 16832 145 9.23 17 cis-Golgi network;Endoplasmic reticulum NA 0 PE1 NX_Q9Y5S1 85981 764 5.56 17 Cytoplasm;Melanosome;Cell membrane NA 6 PE1 NX_Q9Y5S2 194315 1711 5.97 14 Cytoplasm;Cell junction;Cell membrane;Lamellipodium NA 0 PE1 NX_Q9Y5S8 64871 564 8.79 X Invadopodium membrane;Cell membrane NA 6 PE1 NX_Q9Y5S9 19889 174 5.5 1 Cytoplasm;Nucleus;Nucleus speckle NA 0 PE1 NX_Q9Y5T4 16383 150 10.08 13 Mitochondrion inner membrane NA 1 PE1 NX_Q9Y5T5 93570 823 6.5 21 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y5U2 34326 329 5.07 11 Cytosol;Nucleoplasm NA 0 PE1 NX_Q9Y5U4 24778 225 8.16 2 Endoplasmic reticulum membrane NA 5 PE1 NX_Q9Y5U5 26000 241 5.97 1 Cell membrane;Secreted NA 1 PE1 NX_Q9Y5U8 12347 109 9.67 6 Mitochondrion;Mitochondrion inner membrane Mitochondrial pyruvate carrier deficiency 2 PE1 NX_Q9Y5U9 8969 82 7.96 18 Endoplasmic reticulum membrane;Endoplasmic reticulum Microcephaly, epilepsy, and diabetes syndrome 2 PE1 NX_Q9Y5V0 8498 76 10.02 8 Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9Y5V3 86161 778 5.64 X Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9Y5W3 37420 355 9.06 19 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y5W5 41528 379 7.84 12 Secreted NA 0 PE1 NX_Q9Y5W7 110182 946 6.28 6 Cytosol;Dendrite;Late endosome membrane;Lysosome membrane Spinocerebellar ataxia, autosomal recessive, 20 2 PE1 NX_Q9Y5W8 112189 968 6.15 7 Early endosome membrane NA 0 PE1 NX_Q9Y5W9 30433 270 6.61 17 Cytosol;Endosome;Membrane NA 0 PE1 NX_Q9Y5X0 23598 201 5.5 7 Nucleolus;Cytoplasm;Endosome membrane;Nucleus;Cytoskeleton;Centrosome Osteopetrosis, autosomal recessive 8 0 PE1 NX_Q9Y5X1 66592 595 5.4 6 Ruffle;Cytosol;Cytoplasm;Cell membrane;trans-Golgi network;Cytoplasmic vesicle membrane;Clathrin-coated vesicle NA 0 PE1 NX_Q9Y5X2 52569 465 6.96 7 Cytoplasmic vesicle;Early endosome membrane NA 0 PE1 NX_Q9Y5X3 46816 404 6.31 20 Endosome;Phagocytic cup;Ruffle;Cytoplasm;Early endosome membrane;Cell membrane;Early endosome;Cytoplasmic vesicle membrane NA 0 PE1 NX_Q9Y5X4 44692 410 8.17 15 Nucleus Retinitis pigmentosa 37;Enhanced S cone syndrome 0 PE1 NX_Q9Y5X5 60270 522 9.43 4 Cytoskeleton;Cell membrane NA 7 PE1 NX_Q9Y5X9 56795 500 8.13 18 Secreted NA 0 PE1 NX_Q9Y5Y0 59863 555 5.72 1 Cell membrane;Mitochondrion membrane;Cell junction Posterior column ataxia with retinitis pigmentosa 12 PE1 NX_Q9Y5Y2 28825 271 5.55 16 Cytosol;Cytoplasm;Microtubule organizing center;Centriole;Nucleus;Cilium axoneme;Centrosome NA 0 PE1 NX_Q9Y5Y3 41967 372 9.45 2 Cell membrane NA 7 PE2 NX_Q9Y5Y4 43268 395 10.52 11 Cell membrane NA 7 PE1 NX_Q9Y5Y5 38629 336 9.85 11 Peroxisome membrane Peroxisome biogenesis disorder 8B;Peroxisome biogenesis disorder 8A;Peroxisome biogenesis disorder complementation group 9 2 PE1 NX_Q9Y5Y6 94770 855 6.11 11 Cytoplasmic vesicle;Nucleoplasm;Membrane Ichthyosis, congenital, autosomal recessive 11 1 PE1 NX_Q9Y5Y7 35213 322 8.59 11 Membrane NA 1 PE1 NX_Q9Y5Y9 220626 1956 5.67 3 Cell membrane Episodic pain syndrome, familial, 2 24 PE1 NX_Q9Y5Z0 56180 518 5.05 21 Cell membrane;Endosome;Endoplasmic reticulum;Golgi apparatus NA 1 PE1 NX_Q9Y5Z4 22875 205 4.58 6 Mitochondrion;Cytoplasm NA 0 PE1 NX_Q9Y5Z6 37993 326 9.38 2 Golgi apparatus membrane NA 1 PE1 NX_Q9Y5Z7 86779 792 8.75 12 Cytosol;Cytoplasm;Nucleus;Cell membrane;Nucleoplasm NA 0 PE1 NX_Q9Y5Z9 36831 338 8.4 1 Endoplasmic reticulum membrane;Cytoplasm;Cytoplasmic vesicle;Golgi apparatus membrane;Nucleus;Mitochondrion membrane Corneal dystrophy, Schnyder type 8 PE1 NX_Q9Y600 55023 493 6.06 12 NA NA 0 PE1 NX_Q9Y603 38998 341 8.27 6 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y605 14650 127 4.69 4 Perinuclear region;Nucleus NA 0 PE1 NX_Q9Y606 47470 427 8.69 12 Mitochondrion;Nucleus Myopathy with lactic acidosis and sideroblastic anemia 1 0 PE1 NX_Q9Y608 82171 721 6.5 3 Cytoskeleton;Cell membrane NA 0 PE1 NX_Q9Y613 126551 1164 6.01 16 Cytosol;Cytoplasm;Cytoskeleton;Bleb NA 0 PE1 NX_Q9Y614 45234 415 5.32 9 Cytoskeleton NA 0 PE1 NX_Q9Y615 48644 435 6.64 9 Cytoplasm;Cytoskeleton;Nucleus;Golgi apparatus NA 0 PE1 NX_Q9Y616 67767 596 6.25 12 Cytoplasmic vesicle Asthma-related traits 5 0 PE1 NX_Q9Y617 40423 370 7.56 9 Cytosol Neu-Laxova syndrome 2;Phosphoserine aminotransferase deficiency 0 PE1 NX_Q9Y618 273657 2514 7.21 12 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y619 32736 301 9.28 13 Mitochondrion inner membrane Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 6 PE1 NX_Q9Y620 102967 910 8.44 8 Nucleus NA 0 PE1 NX_Q9Y623 223071 1939 5.65 17 Myofibril NA 0 PE1 NX_Q9Y624 32583 299 8.09 1 Tight junction;Cytoskeleton;Cell junction;Cell membrane NA 1 PE1 NX_Q9Y625 62736 555 5.29 13 Cytoplasmic vesicle;Extracellular space;Cell membrane;Golgi apparatus Omodysplasia 1 0 PE1 NX_Q9Y639 44387 398 8.11 15 Mitochondrion;Cytoskeleton;Cell membrane NA 1 PE1 NX_Q9Y644 36424 331 9.3 17 Golgi apparatus membrane;Nucleus NA 1 PE1 NX_Q9Y646 51888 472 5.79 8 Cytoplasmic vesicle;Secreted;Endoplasmic reticulum;Golgi apparatus;Lysosome NA 0 PE1 NX_Q9Y651 28580 276 9.74 13 Nucleus NA 0 PE1 NX_Q9Y653 77738 693 8.79 16 Membrane raft;Cell membrane;Secreted Polymicrogyria, bilateral frontoparietal;Polymicrogyria, bilateral perisylvian, autosomal recessive 7 PE1 NX_Q9Y657 29601 262 6.46 9 Nucleoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9Y661 49799 456 8.82 16 Golgi apparatus membrane NA 1 PE2 NX_Q9Y662 43324 390 9.67 17 Cytoplasmic vesicle;Golgi apparatus membrane NA 1 PE1 NX_Q9Y663 44900 406 9.54 17 Cytoskeleton;Golgi apparatus membrane NA 1 PE1 NX_Q9Y664 48080 436 5.12 19 Lysosome membrane;Nucleoplasm;Stereocilium;Cell membrane;Cytosol;Lamellipodium Mental retardation, autosomal recessive 41 0 PE1 NX_Q9Y666 119106 1083 6.28 5 Cytosol;Cell membrane NA 12 PE1 NX_Q9Y672 58121 507 8.8 1 Endoplasmic reticulum membrane;Endoplasmic reticulum Congenital disorder of glycosylation 1C 11 PE1 NX_Q9Y673 36946 324 9.34 13 Endoplasmic reticulum membrane;Cytosol NA 1 PE1 NX_Q9Y675 8412 71 10.58 15 Nucleus NA 0 PE1 NX_Q9Y676 29396 258 9.47 6 Mitochondrion;Cytoplasm;Cell junction NA 0 PE1 NX_Q9Y678 97718 874 5.32 3 Nucleoplasm;Golgi apparatus;COPI-coated vesicle membrane;Cytoplasm;Cytosol;Golgi apparatus membrane NA 0 PE1 NX_Q9Y679 45787 410 8.96 2 Nucleoplasm;Cytoplasmic vesicle;Endoplasmic reticulum membrane NA 1 PE1 NX_Q9Y680 25794 222 5.92 2 Endoplasmic reticulum lumen;Endoplasmic reticulum NA 0 PE1 NX_Q9Y689 20728 179 6.3 2 NA NA 0 PE1 NX_Q9Y691 27130 235 8.71 3 Membrane NA 2 PE1 NX_Q9Y692 62591 573 4.76 1 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9Y693 21598 200 7.87 13 Nucleolus;Membrane NA 3 PE1 NX_Q9Y694 60026 548 6.57 6 Basolateral cell membrane NA 12 PE1 NX_Q9Y696 28772 253 5.45 1 Cytosol;Cytoplasm;Cell membrane;Centrosome;Nucleus;Mitochondrion;Nucleus matrix;Cytoplasmic vesicle membrane;Cell junction NA 1 PE1 NX_Q9Y697 50196 457 8.54 20 Mitochondrion;Cytoplasm;Nucleus;Cytosol;Nucleoplasm NA 0 PE1 NX_Q9Y698 35966 323 9.13 22 Synaptosome;Membrane Mental retardation, autosomal dominant 10 4 PE1 NX_Q9Y6A1 84881 747 8.69 9 Endoplasmic reticulum membrane;Golgi apparatus Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1;Muscular dystrophy-dystroglycanopathy limb-girdle C1;Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 12 PE1 NX_Q9Y6A2 56821 500 9.15 14 Endoplasmic reticulum membrane;Microsome membrane NA 1 PE1 NX_Q9Y6A4 22774 193 9.78 16 Centriole;Nucleus;Cilium;Cilium basal body NA 0 PE1 NX_Q9Y6A5 90360 838 4.97 4 Cytosol;Cytoplasm;Spindle pole;Microtubule organizing center;Cytoplasmic vesicle;Spindle;Centrosome NA 0 PE1 NX_Q9Y6A9 11805 102 9.34 3 Endoplasmic reticulum membrane;Microsome membrane;Endoplasmic reticulum;Cell membrane NA 2 PE1 NX_Q9Y6B2 20876 187 3.89 15 Nucleoplasm;Cytoplasm;Nucleus NA 0 PE1 NX_Q9Y6B6 22410 198 5.76 5 Endoplasmic reticulum membrane;Golgi stack membrane Chylomicron retention disease 0 PE1 NX_Q9Y6B7 83260 739 5.59 1 Cytoplasmic vesicle;trans-Golgi network membrane Spastic paraplegia 47, autosomal recessive 0 PE1 NX_Q9Y6C2 106695 1016 5.1 2 Extracellular matrix NA 0 PE1 NX_Q9Y6C5 130544 1203 6 1 Membrane Medulloblastoma;Basal cell carcinoma 12 PE2 NX_Q9Y6C7 11024 94 10.19 3 NA NA 0 PE5 NX_Q9Y6C9 33331 303 8.25 11 Mitochondrion;Mitochondrion inner membrane NA 3 PE1 NX_Q9Y6D0 10645 94 10.86 3 Endoplasmic reticulum membrane;Cytosol;Cell membrane;Nucleoplasm NA 1 PE1 NX_Q9Y6D5 202038 1785 5.93 20 Synapse;Golgi apparatus;Cytoplasm;Endosome;Cytoplasmic vesicle;Dendrite;Perinuclear region;trans-Golgi network;Membrane;Cytoskeleton;Centrosome Periventricular nodular heterotopia 2 0 PE1 NX_Q9Y6D6 208767 1849 5.58 8 Nucleolus;Golgi apparatus;Cytosol;Cytoplasm;Nucleoplasm;Perinuclear region;Nucleus;trans-Golgi network;Membrane;Nucleus matrix NA 0 PE1 NX_Q9Y6D9 83067 718 5.72 7 Kinetochore;Nucleus membrane;Nucleoplasm;Nucleus envelope;Spindle pole;Nucleus;Spindle;Centrosome NA 0 PE1 NX_Q9Y6E0 49308 443 5.49 13 Cytosol;Cytoplasm;Nucleolus;Nucleus;Membrane NA 0 PE1 NX_Q9Y6E2 48162 419 6.26 7 Cytosol;Cytoskeleton;Cell membrane NA 0 PE1 NX_Q9Y6E7 35188 314 9.04 12 Mitochondrion matrix NA 0 PE1 NX_Q9Y6F1 60089 533 6.34 3 Centriole;Nucleus;Centrosome NA 0 PE1 NX_Q9Y6F6 97930 904 5.48 11 Cytosol;Perinuclear region;Sarcoplasmic reticulum;Nucleus;Membrane NA 1 PE1 NX_Q9Y6F7 60524 541 9.14 Y Nucleus NA 0 PE1 NX_Q9Y6F8 60473 540 9.21 Y Nucleus NA 0 PE1 NX_Q9Y6F9 39721 365 9.22 2 Extracellular matrix NA 0 PE1 NX_Q9Y6G1 10712 99 10.55 6 Endoplasmic reticulum membrane;Nucleoplasm;Endoplasmic reticulum;Mitochondrion membrane NA 3 PE1 NX_Q9Y6G3 16661 142 8.58 12 Mitochondrion;Cell membrane NA 0 PE1 NX_Q9Y6G5 22966 202 6.09 5 Cytosol;Cytoplasm;Nucleus;Cell membrane NA 0 PE1 NX_Q9Y6G9 56579 523 6.01 3 Cytosol;Cytoplasm;Kinetochore;Spindle pole;Centrosome NA 0 PE1 NX_Q9Y6H1 15513 151 9.43 7 Mitochondrion;Nucleus;Mitochondrion intermembrane space Parkinson disease 22 0 PE1 NX_Q9Y6H3 28081 246 8.3 12 Cytosol;Cytoplasmic vesicle;Cell junction;Cell membrane NA 0 PE1 NX_Q9Y6H5 100409 919 5.96 5 Nucleoplasm;Cytosol;Cytoplasm Parkinson disease 0 PE1 NX_Q9Y6H6 11710 103 8.82 11 Cytoplasm;Perikaryon;Membrane raft;Cell membrane;Dendrite NA 1 PE1 NX_Q9Y6H8 47410 435 6.15 13 Gap junction;Cell membrane Cataract 14, multiple types 4 PE1 NX_Q9Y6I0 16972 156 5.86 7 NA NA 0 PE3 NX_Q9Y6I3 60293 576 4.72 19 Cytosol;Clathrin-coated pit;Nucleus;Cell membrane;Cytoplasm NA 0 PE1 NX_Q9Y6I4 58897 520 8.54 15 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y6I7 47432 421 7.63 17 Mitochondrion;Cytoplasm;Nucleus NA 0 PE1 NX_Q9Y6I8 24264 212 10.07 20 Peroxisome membrane;Nucleolus;Peroxisome NA 2 PE1 NX_Q9Y6I9 34189 313 4.79 3 Cytosol;Nucleolus;Secreted NA 0 PE1 NX_Q9Y6J0 246352 2220 5.7 22 Cytosol;Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y6J3 10312 95 9.43 5 NA NA 0 PE2 NX_Q9Y6J6 14472 123 5.57 21 Cell membrane Long QT syndrome 6;Atrial fibrillation, familial, 4 1 PE1 NX_Q9Y6J8 35818 313 5.73 7 Mitochondrion matrix;Nucleus speckle NA 0 PE1 NX_Q9Y6J9 67814 622 9.14 11 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y6K0 46554 416 8.55 1 Endoplasmic reticulum membrane;Nucleus membrane NA 8 PE1 NX_Q9Y6K1 101858 912 6.19 2 Nucleoplasm;Cytoplasm;Nucleus Tatton-Brown-Rahman syndrome 0 PE1 NX_Q9Y6K5 121170 1087 8.73 12 Nucleoplasm;Cytoplasm;Nucleus;Cytosol;Cell membrane NA 0 PE1 NX_Q9Y6K8 63333 562 4.96 1 Cytosol;Cytoplasm;Microtubule organizing center NA 0 PE1 NX_Q9Y6K9 48198 419 5.56 X Cytosol;Cytoplasm;Nucleus Incontinentia pigmenti;Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema;Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked;Recurrent isolated invasive pneumococcal disease 2;Immunodeficiency 33;Immunodeficiency, NEMO-related, without anhidrotic ectodermal dysplasia 0 PE1 NX_Q9Y6L6 76449 691 8.85 12 Basolateral cell membrane Hyperbilirubinemia, Rotor type 12 PE1 NX_Q9Y6L7 113557 1015 5.6 10 Secreted NA 0 PE1 NX_Q9Y6M0 34884 314 7.56 16 Cytosol;Cell membrane NA 0 PE1 NX_Q9Y6M1 66121 599 8.48 3 Cytosol;Cytoplasm;Nucleus NA 0 PE1 NX_Q9Y6M4 51389 447 9.29 5 Cytoplasm NA 0 PE1 NX_Q9Y6M5 55300 507 6.02 1 Cytoplasmic vesicle;Cell membrane NA 6 PE1 NX_Q9Y6M7 136044 1214 6.26 3 Apical cell membrane;Basolateral cell membrane;Cytosol;Stereocilium;Cell membrane;Focal adhesion NA 11 PE1 NX_Q9Y6M9 21831 179 8.57 8 Mitochondrion;Mitochondrion inner membrane NA 0 PE1 NX_Q9Y6N1 31430 276 9.22 17 Mitochondrion inner membrane NA 1 PE1 NX_Q9Y6N3 29971 262 8.42 1 Secreted NA 0 PE1 NX_Q9Y6N5 49961 450 9.18 15 Mitochondrion NA 0 PE1 NX_Q9Y6N6 171227 1575 6.14 9 Basement membrane Cortical malformations occipital 0 PE1 NX_Q9Y6N7 180930 1651 5.7 3 Axon;Endoplasmic reticulum-Golgi intermediate compartment membrane;Cell membrane NA 1 PE1 NX_Q9Y6N8 88451 788 4.83 5 Cell membrane NA 1 PE1 NX_Q9Y6N9 62211 552 5.36 11 Cytosol;Microvillus;Cytoskeleton Deafness, autosomal recessive, 18A;Usher syndrome 1C 0 PE1 NX_Q9Y6P5 56557 492 5.68 6 Cytoplasm;Nucleolus;Nucleus NA 0 PE1 NX_Q9Y6Q1 74576 641 6.62 X Cytosol;Perinuclear region;Spindle NA 0 PE1 NX_Q9Y6Q2 83141 735 5.82 2 Cytoplasm;Membrane NA 0 PE1 NX_Q9Y6Q3 71209 630 9.26 9 Cytoplasmic vesicle;Nucleus NA 0 PE1 NX_Q9Y6Q5 48108 423 8.23 19 Cytoplasmic vesicle;Clathrin-coated vesicle membrane;Golgi apparatus NA 0 PE1 NX_Q9Y6Q6 66034 616 5.21 18 Cytosol;Cell membrane Paget disease of bone 2, early-onset;Osteopetrosis, autosomal recessive 7;Familial expansile osteolysis 1 PE1 NX_Q9Y6Q9 155293 1424 7.16 20 Cytosol;Nucleoplasm;Nucleus;Cytoplasm NA 0 PE1 NX_Q9Y6R0 64891 609 9.1 19 Cytoplasm NA 0 PE1 NX_Q9Y6R1 121461 1079 6.35 4 Basolateral cell membrane Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 12 PE1 NX_Q9Y6R4 181685 1608 5.94 6 Cytosol;Perinuclear region NA 0 PE1 NX_Q9Y6R6 96807 833 9.17 19 Nucleus NA 0 PE1 NX_Q9Y6R7 572017 5405 5.14 19 Cytoskeleton;Golgi apparatus;Cell membrane;Secreted NA 0 PE1 NX_Q9Y6R9 57368 512 10.27 19 Nucleus NA 0 PE1 NX_Q9Y6S9 60036 549 7.06 14 Nucleoplasm NA 0 PE1 NX_Q9Y6T7 90595 804 8.11 7 Cytoplasm NA 0 PE1 NX_Q9Y6U3 80489 715 5.5 7 Cytoskeleton;Podosome;Cell membrane NA 0 PE1 NX_Q9Y6U7 41101 377 8.98 22 Cytoskeleton;Nucleolus;Membrane NA 2 PE2 NX_Q9Y6V0 560699 5142 6.07 7 Nucleus speckle;Synapse;Cell membrane Pontocerebellar hypoplasia 3 0 PE1 NX_Q9Y6V7 54226 483 9.21 19 Mitochondrion;Nucleolus NA 0 PE1 NX_Q9Y6W3 92652 813 7.55 3 Nucleus NA 0 PE1 NX_Q9Y6W5 54284 498 5.38 1 Cytosol;Cytoplasm;Cytoskeleton;Cell membrane;Lamellipodium NA 0 PE1 NX_Q9Y6W6 52642 482 7.87 1 Cytosol;Nucleoplasm;Nucleus;Golgi apparatus;Cytoplasm NA 0 PE1 NX_Q9Y6W8 22625 199 9.01 2 Cell membrane;Secreted Immunodeficiency, common variable, 1 1 PE1 NX_Q9Y6X0 175008 1596 9.76 18 Cytosol;Nucleus Schinzel-Giedion midface retraction syndrome;Leukemia, acute myelogenous;Leukemia, juvenile myelomonocytic;Myelodysplastic syndrome;Mental retardation, autosomal dominant 29;Leukemia, chronic myeloid, atypical 0 PE1 NX_Q9Y6X1 7374 66 11.01 3 Endoplasmic reticulum membrane;Endoplasmic reticulum;Cell membrane;Membrane NA 1 PE1 NX_Q9Y6X2 68017 628 7.81 1 Nucleoplasm;Nucleus speckle;Nucleus;Cytoplasm NA 0 PE1 NX_Q9Y6X3 69082 613 6.84 19 Nucleoplasm;Nucleus;Chromosome NA 0 PE1 NX_Q9Y6X4 74955 670 4.52 5 Cytosol;Nucleus inner membrane;Nucleus envelope;Nucleus membrane NA 0 PE1 NX_Q9Y6X5 51641 453 5.71 6 Cell membrane NA 1 PE1 NX_Q9Y6X6 206129 1858 6.37 13 Cytoplasmic vesicle;Cytoplasm NA 0 PE1 NX_Q9Y6X8 92307 837 6.42 8 Nucleoplasm;Nucleus NA 0 PE1 NX_Q9Y6X9 117823 1032 8.6 22 Cytosol;Nucleus Charcot-Marie-Tooth disease 2Z 0 PE1 NX_Q9Y6Y0 71729 642 5.33 1 Nucleoplasm;Cytoplasm;Cytoskeleton;Cytosol NA 0 PE1 NX_Q9Y6Y1 183672 1673 7.29 1 Cytosol;Cytoplasm;Nucleolus;Nucleus Cerebellar ataxia, non-progressive, with mental retardation 0 PE1 NX_Q9Y6Y8 111076 1000 5.35 10 Cytoplasmic vesicle;COPII-coated vesicle membrane;Endoplasmic reticulum NA 0 PE1 NX_Q9Y6Y9 18546 160 8.8 8 Cytoplasmic vesicle;Extracellular space;Secreted NA 0 PE1 NX_Q9Y6Z2 6189 57 5.98 6 NA NA 0 PE4 NX_Q9Y6Z4 19411 181 9.48 6 NA NA 0 PE5 NX_Q9Y6Z5 26128 254 11.81 6 NA NA 0 PE5 NX_Q9Y6Z7 30705 277 6.96 8 Cytoplasm;Golgi apparatus;Secreted 3MC syndrome 3 0 PE1 NX_Q9YNA8 74183 666 9.05 19 Cell membrane NA 0 PE1 NX_S4R3P1 2751 24 5.87 4 Cytoplasm;Secreted NA 0 PE3 NX_S4R3Y5 2737 24 7.98 1 Cytoplasm;Secreted NA 0 PE2 NX_U3KPV4 38754 340 9.39 1 Golgi stack membrane NA 1 PE2 NX_W5XKT8 36333 324 6.15 19 Membrane NA 1 PE1 NX_W6CW81 12732 113 5.57 1 NA NA 0 PE1