Mercurial > repos > nathandunn > monarchinitiative
annotate test-data/variants-for-phenotype.tsv @ 9:5fa1f0ca69cc draft default tip
planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
| author | nathandunn |
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| date | Sun, 25 Sep 2016 21:59:32 -0400 |
| parents | 61d8060bf2ed |
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| rev | line source |
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5fa1f0ca69cc
planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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1 ClinVarVariant:9271 NM_000161.2(GCH1):c.262C>T (p.Arg88Trp) NCBITaxon:9606 Homo sapiens NCBIGene:2643 GCH1 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:7730309 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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2 ClinVarVariant:9291 GCH1, DEL NCBITaxon:9606 Homo sapiens NCBIGene:2643 GCH1 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:17111153 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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3 ClinVarVariant:39198 NM_198578.3(LRRK2):c.4883G>C (p.Arg1628Pro) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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4 ClinVarVariant:39148 NM_198578.3(LRRK2):c.2264C>T (p.Pro755Leu) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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5 ClinVarVariant:13496 NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) NCBITaxon:9606 Homo sapiens NCBIGene:5428 POLG HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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6 ClinVarVariant:66099 NM_022089.3(ATP13A2):c.2629G>A (p.Gly877Arg) NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:20853184 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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7 ClinVarVariant:1220 ATP13A2, 22-BP DUP NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:16964263|PMID:21724849 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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8 ClinVarVariant:9276 GCH1, IVS2, A-G, -2 NCBITaxon:9606 Homo sapiens NCBIGene:2643 GCH1 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:10732814 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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9 ClinVarVariant:208620 NM_000360.3(TH):c.283delG (p.Ala95Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:7054 TH HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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10 ClinVarVariant:13514 NM_002693.2(POLG):c.1532G>A (p.Ser511Asn) NCBITaxon:9606 Homo sapiens NCBIGene:5428 POLG HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion PMID:17420318 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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11 ClinVarVariant:9283 NM_000161.2(GCH1):c.671A>G (p.Lys224Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2643 GCH1 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:9667588|PMID:12391354 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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12 ClinVarVariant:9273 GCH1, 2-BP INS NCBITaxon:9606 Homo sapiens NCBIGene:2643 GCH1 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:7730309 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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13 ClinVarVariant:13508 NM_002693.2(POLG):c.2869G>T (p.Ala957Ser) NCBITaxon:9606 Homo sapiens NCBIGene:5428 POLG HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion PMID:12210792 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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14 ClinVarVariant:30834 NM_022089.3(ATP13A2):c.2552_2553delTT (p.Phe851Cysfs) NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:21094623 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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15 ClinVarVariant:1942 NM_198578.3(LRRK2):c.4322G>A (p.Arg1441His) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion PMID:17060595|PMID:16172858|PMID:16157909 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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16 ClinVarVariant:12324 NM_199292.2(TH):c.1234C>A (p.Gln412Lys) NCBITaxon:9606 Homo sapiens NCBIGene:7054 TH HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:7814018|PMID:10407773|PMID:8528210 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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17 ClinVarVariant:12334 NM_199292.2(TH):c.1076G>T (p.Cys359Phe) NCBITaxon:9606 Homo sapiens NCBIGene:7054 TH HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:10585338 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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18 ClinVarVariant:39183 NM_198578.3(LRRK2):c.4309A>C (p.Asn1437His) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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19 ClinVarVariant:9288 NM_000161.2(GCH1):c.142C>T (p.Gln48Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2643 GCH1 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:11359069 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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20 ClinVarVariant:9278 NM_000161.2(GCH1):c.431A>C (p.His144Pro) NCBITaxon:9606 Homo sapiens NCBIGene:2643 GCH1 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:9576537 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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21 ClinVarVariant:12326 NM_199292.2(TH):c.1481C>T (p.Thr494Met) NCBITaxon:9606 Homo sapiens NCBIGene:7054 TH HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:11246459 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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22 ClinVarVariant:143196 NM_022089.3(ATP13A2):c.490C>T (p.Arg164Trp) NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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23 ClinVarVariant:1940 NM_198578.3(LRRK2):c.6055G>A (p.Gly2019Ser) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion PMID:17215492|PMID:16436782|PMID:16966502|PMID:16269541|PMID:15852371|PMID:16436781|PMID:15680457|PMID:16401756|PMID:15726496|PMID:16533964|PMID:23075850|PMID:19283415|PMID:17353388|PMID:17050822|PMID:15811455|PMID:18704525|PMID:15929036|PMID:17060595|PMID:21115957|PMID:16240353|PMID:19020907|PMID:16728648|PMID:20008657|PMID:16311269|PMID:15680455|PMID:15680456|PMID:18981379|PMID:16960813|PMID:16145815|PMID:17938369|PMID:15732108 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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24 ClinVarVariant:216934 NM_001103146.1(GIGYF2):c.2378C>T (p.Ala793Val) NCBITaxon:9606 Homo sapiens NCBIGene:26058 GIGYF2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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25 ClinVarVariant:209136 NM_022089.3(ATP13A2):c.943G>A (p.Gly315Arg) NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:26633545 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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26 ClinVarVariant:12331 NM_199292.2(TH):c.1198-24T>A NCBITaxon:9606 Homo sapiens NCBIGene:7054 TH HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:11281275 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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27 ClinVarVariant:1937 NM_198578.3(LRRK2):c.5096A>G (p.Tyr1699Cys) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion PMID:15541309|PMID:16003110|PMID:15541308|PMID:18591067 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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28 ClinVarVariant:39215 NM_198578.3(LRRK2):c.5620G>T (p.Glu1874Ter) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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29 ClinVarVariant:12328 NM_199292.2(TH):c.1010G>A (p.Arg337His) NCBITaxon:9606 Homo sapiens NCBIGene:7054 TH HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:11246459 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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30 ClinVarVariant:4810 NM_012179.3(FBXO7):c.1144+1G>T NCBITaxon:9606 Homo sapiens NCBIGene:25793 FBXO7 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion PMID:19038853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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31 ClinVarVariant:12333 TH, -70G-A NCBITaxon:9606 Homo sapiens NCBIGene:7054 TH HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:9235905|PMID:17696123 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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32 ClinVarVariant:9275 GCH1, IVS1, A-G, -2 NCBITaxon:9606 Homo sapiens NCBIGene:2643 GCH1 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:10732814 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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33 ClinVarVariant:9285 NM_000161.2(GCH1):c.404T>A (p.Ile135Lys) NCBITaxon:9606 Homo sapiens NCBIGene:2643 GCH1 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:10208576 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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34 ClinVarVariant:1219 NM_022089.3(ATP13A2):c.1306+5G>A NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:16964263|PMID:21724849 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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35 ClinVarVariant:1939 NM_198578.3(LRRK2):c.3364A>G (p.Ile1122Val) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion PMID:15541309 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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36 ClinVarVariant:21011 NR_104387.1(TAF1):n.5894C>T NCBITaxon:9606 Homo sapiens NCBIGene:6872 TAF1 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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37 ClinVarVariant:66098 NM_022089.3(ATP13A2):c.2561T>G (p.Met854Arg) NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:22388936|PMID:495089 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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38 ClinVarVariant:12325 NM_199292.2(TH):c.707T>C (p.Leu236Pro) NCBITaxon:9606 Homo sapiens NCBIGene:7054 TH HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:20198643|PMID:8817341|PMID:10407773 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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39 ClinVarVariant:9277 NM_000161.2(GCH1):c.3G>C (p.Met1Ile) NCBITaxon:9606 Homo sapiens NCBIGene:2643 GCH1 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:9576537 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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40 ClinVarVariant:4809 NM_012179.3(FBXO7):c.1492C>T (p.Arg498Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25793 FBXO7 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion PMID:19038853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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41 ClinVarVariant:39212 NM_198578.3(LRRK2):c.5605A>G (p.Met1869Val) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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5fa1f0ca69cc
planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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42 ClinVarVariant:13495 NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) NCBITaxon:9606 Homo sapiens NCBIGene:5428 POLG HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion PMID:11431686|PMID:2725645|PMID:2067633|PMID:14467368|PMID:12210792|PMID:15351195|PMID:11897778 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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5fa1f0ca69cc
planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents:
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43 ClinVarVariant:39164 NM_198578.3(LRRK2):c.3342A>G (p.Leu1114=) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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5fa1f0ca69cc
planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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44 ClinVarVariant:12332 TH, 1-BP DEL, 291C NCBITaxon:9606 Homo sapiens NCBIGene:7054 TH HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:9732974|PMID:10407773 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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5fa1f0ca69cc
planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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45 ClinVarVariant:1218 ATP13A2, 1-BP DEL, 3057C NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:16964263|PMID:21724849 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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46 ClinVarVariant:9284 NM_000161.2(GCH1):c.586G>T (p.Ala196Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2643 GCH1 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:10078749 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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5fa1f0ca69cc
planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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47 ClinVarVariant:9274 NM_000161.2(GCH1):c.602G>A (p.Gly201Glu) NCBITaxon:9606 Homo sapiens NCBIGene:2643 GCH1 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:11026444|PMID:7730309 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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5fa1f0ca69cc
planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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48 ClinVarVariant:30833 NM_022089.3(ATP13A2):c.1101_1102dupGA (p.Thr368Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:20310007 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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49 ClinVarVariant:9862 TAF1, SVA RETROTRANSPOSON INSERTION NCBITaxon:9606 Homo sapiens NCBIGene:6872 TAF1 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:17273961 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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50 ClinVarVariant:9272 NM_000161.2(GCH1):c.401A>T (p.Asp134Val) NCBITaxon:9606 Homo sapiens NCBIGene:2643 GCH1 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:7730309 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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51 ClinVarVariant:9289 GCH1, IVS5, G-A, +1 NCBITaxon:9606 Homo sapiens NCBIGene:2643 GCH1 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:11486899 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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52 ClinVarVariant:9279 GCH1, IVS2, G-C, +1 NCBITaxon:9606 Homo sapiens NCBIGene:2643 GCH1 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:9576537 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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53 ClinVarVariant:12327 NM_199292.2(TH):c.698G>A (p.Arg233His) NCBITaxon:9606 Homo sapiens NCBIGene:7054 TH HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:9732974|PMID:10407773|PMID:9703425 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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54 ClinVarVariant:188890 NM_000360.3(TH):c.1282C>T (p.Gln428Ter) NCBITaxon:9606 Homo sapiens NCBIGene:7054 TH HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:24753243|PMID:20430833 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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55 ClinVarVariant:4811 NM_012179.3(FBXO7):c.65C>T (p.Thr22Met) NCBITaxon:9606 Homo sapiens NCBIGene:25793 FBXO7 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion PMID:19038853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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56 ClinVarVariant:12329 NM_199292.2(TH):c.826A>C (p.Thr276Pro) NCBITaxon:9606 Homo sapiens NCBIGene:7054 TH HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:11246459 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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57 ClinVarVariant:1938 NM_198578.3(LRRK2):c.4321C>T (p.Arg1441Cys) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion PMID:19667187|PMID:15541309|PMID:7898705|PMID:16269541 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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58 ClinVarVariant:1936 NM_198578.3(LRRK2):c.4321C>G (p.Arg1441Gly) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion PMID:19020907|PMID:16003110|PMID:16533964|PMID:19308469|PMID:15541308 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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59 ClinVarVariant:209135 NM_022089.3(ATP13A2):c.348-9_351del NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:26633545 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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60 ClinVarVariant:12330 NM_199292.2(TH):c.941C>T (p.Thr314Met) NCBITaxon:9606 Homo sapiens NCBIGene:7054 TH HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:11246459 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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61 ClinVarVariant:1941 NM_198578.3(LRRK2):c.6059T>C (p.Ile2020Thr) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion PMID:15541309|PMID:15880653|PMID:9276200|PMID:16321986 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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62 ClinVarVariant:1221 NM_022089.3(ATP13A2):c.1510G>C (p.Gly504Arg) NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion PMID:17485642 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
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63 ClinVarVariant:1943 NM_198578.3(LRRK2):c.7153G>A (p.Gly2385Arg) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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64 ClinVarVariant:4808 NM_012179.3(FBXO7):c.1132C>G (p.Arg378Gly) NCBITaxon:9606 Homo sapiens NCBIGene:25793 FBXO7 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion PMID:18513678 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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65 ClinVarVariant:39131 NM_198578.3(LRRK2):c.1256C>T (p.Ala419Val) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |