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annotate test-data/variants-for-phenotypes-union.tsv @ 9:5fa1f0ca69cc draft default tip

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planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
author nathandunn
date Sun, 25 Sep 2016 21:59:32 -0400
parents 61d8060bf2ed
children
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5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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1 ClinVarVariant:53501 NM_000492.3(CFTR):c.2491G>T (p.Glu831Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20949073|PMID:23974870|PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:8956039|PMID:12796866|PMID:21296036 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
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2 dbSNP:rs1113932 rs1113932-G NCBITaxon:9606 Homo sapiens NCBIGene:23671 TMEFF2 HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:9491171|PMID:17938043|PMID:25042611 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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3 MGI:5708106 Tg(Slc5a7)1Rbl NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:24274995|PMID:24274995 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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4 MGI:5646419 Mbt2 NCBITaxon:10090 Mus musculus MGI:5646419 Mbt2 RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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5 MGI:2152583 Adora2a<tm1Map> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:9262401 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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6 ClinVarVariant:92753 NM_000277.1(PAH):c.926C>T (p.Ala309Val) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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7 MGI:3720068 Tg(Thy1-App*R609D*K612E)4Vln NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000006|ECO:0000059 experimental evidence|experimental evidence|experimental phenotypic evidence PMID:8635459|PMID:8635459|PMID:8635459 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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8 MGI:3609234 App<tm1Ck> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006|ECO:0000006 experimental evidence|experimental evidence|experimental evidence PMID:22336193|PMID:22336193|PMID:24278307 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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9 ClinVarVariant:35865 NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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10 ClinVarVariant:211627 NM_015384.4(NIPBL):c.2464delC (p.Gln822Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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11 ClinVarVariant:180201 NM_005933.3(KMT2A):c.2233C>T (p.Arg745Ter) NCBITaxon:9606 Homo sapiens NCBIGene:4297 KMT2A HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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12 ClinVarVariant:35875 NM_000492.3(CFTR):c.3717+5G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:12439892 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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13 ClinVarVariant:211637 NM_133433.3(NIPBL):c.4529dupA (p.Asp1510Glufs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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14 ClinVarVariant:211667 NM_133433.3(NIPBL):c.8342_8348delCTAATAAinsATT (p.Ala2781Aspfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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15 ClinVarVariant:109 NM_017849.3(TMEM127):c.245-1G>T NCBITaxon:9606 Homo sapiens NCBIGene:55654 TMEM127 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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16 ClinVarVariant:10981 NM_001032383.1(PQBP1):c.461_462delAG (p.Glu154Alafs) NCBITaxon:9606 Homo sapiens NCBIGene:10084 PQBP1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15024694|PMID:14634649|PMID:17033686|PMID:7943045 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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17 ClinVarVariant:211657 NM_133433.3(NIPBL):c.6800T>G (p.Met2267Arg) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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18 ClinVarVariant:35895 NM_000492.3(CFTR):c.997C>T (p.Leu333Phe) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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19 ClinVarVariant:211647 NM_133433.3(NIPBL):c.5580dupT (p.Gly1861Trpfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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20 MGI:3878096 Crebrf<Gt(YHD319)Byg> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23071095 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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21 ClinVarVariant:53451 NM_000492.3(CFTR):c.2195T>G (p.Leu732Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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22 MGI:4412286 Gt(ROSA)26Sor<tm7(CAG-mCherry,-EGFP/tetX)Dym> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:19679071|PMID:19679071 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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23 MGI:3527166 Th<tm5Rpa> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:16723393 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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24 ClinVarVariant:53471 NM_000492.3(CFTR):c.2290C>T (p.Arg764Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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25 ClinVarVariant:35855 NM_000492.3(CFTR):c.2932A>T (p.Lys978Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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26 MGI:2178057 Gria1<tm1Rsp> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:15344919 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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27 ClinVarVariant:12786 NM_003000.2(SDHB):c.302G>A (p.Cys101Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:6829807|PMID:12000816|PMID:17474956|PMID:14605591|PMID:19569019|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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28 MGI:2385631 Tg(APPSWE)2576Kha NCBITaxon:10090 Mus musculus NCBIGene:351 APP RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:16260491|PMID:9302276|PMID:9302276 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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29 ClinVarVariant:3917 NM_000520.5(HEXA):c.1453T>C (p.Trp485Arg) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1301190|PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
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30 MGI:5499180 Pedm15 NCBITaxon:10090 Mus musculus MGI:5499180 Pedm15 RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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31 MGI:5708529 Dao<tm1Ttsu> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22837388 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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32 ClinVarVariant:3907 HEXA, IVS4, G-T, -1 NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:20597919|PMID:16301864|PMID:1827945|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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33 ClinVarVariant:3937 HEXA, IVS7, G-A, +1 NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:20597919|PMID:1483696|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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34 MGI:1857288 Plat<tm1Mlg> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:12524546|PMID:15522965 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
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35 ClinVarVariant:75243 NM_002608.3(PDGFB):c.445C>T (p.Arg149Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5155 PDGFB HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:23913003 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
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36 ClinVarVariant:189018 NM_000295.4(SERPINA1):c.745G>C (p.Gly249Arg) NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:21474916|PMID:18376109|PMID:19437508|PMID:3878661|PMID:19072562|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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37 ClinVarVariant:53421 NM_000492.3(CFTR):c.1986_1989delAACT (p.Thr663Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
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38 ClinVarVariant:1462 NM_000190.3(HMBS):c.601C>T (p.Arg201Trp) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8270256 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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39 MGI:2180180 Araf<tm1Mmc> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:8805280|PMID:8805280 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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40 ClinVarVariant:180191 NM_015384.4(NIPBL):c.1801delA (p.Lys603Serfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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41 ClinVarVariant:6903 NM_003002.3(SDHD):c.64C>T (p.Arg22Ter) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:10846047|PMID:6829807|PMID:17474956|PMID:14605591|PMID:11605159|PMID:19569019|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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diff changeset
42 ClinVarVariant:6913 NM_003002.3(SDHD):c.129G>A (p.Trp43Ter) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:12111639|PMID:18211978 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
43 MGI:3773673 Snord116<tm1.1Uta> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence MGI:3774147 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
44 ClinVarVariant:1472 NM_000190.3(HMBS):c.754G>A (p.Ala252Thr) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8262523 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
45 ClinVarVariant:12913 NM_152296.4(ATP1A3):c.2338T>C (p.Phe780Leu) NCBITaxon:9606 Homo sapiens NCBIGene:478 ATP1A3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16632466|PMID:15260953 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
46 ClinVarVariant:1442 HMBS, EX12DEL NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:2789372 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
47 MGI:5703795 Tg(Npy-EGFP/RNAi:Gad1)1Mirn NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:24322205|PMID:24322205 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
48 ClinVarVariant:1452 HMBS, 9-BP DEL, EX10 NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1714233 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
49 MGI:3505718 Tg(Eno2CDK5R1)1Jdm NCBITaxon:10090 Mus musculus NCBIGene:8851 CDK5R1 RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:10706614|PMID:10706614 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
50 MGI:4355536 mt-Atp8<m1> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19037013 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
51 ClinVarVariant:2218 NM_000551.3(VHL):c.499C>T (p.Arg167Trp) NCBITaxon:9606 Homo sapiens NCBIGene:7428 VHL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8270255|PMID:7784063|PMID:8956040|PMID:6829807|PMID:17474956|PMID:14605591|PMID:8592333|PMID:9156047|PMID:19569019|PMID:12000816|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
52 ClinVarVariant:242923 NC_000006.12:g.146414070_146715778del NCBITaxon:9606 Homo sapiens NCBIGene:2332 FMR1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18297385|PMID:10972251|PMID:16176388|PMID:14994287|PMID:19429055 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
53 MGI:2158758 Chrna4<tm1Lst> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11226318 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
54 MGI:4353222 Arx<tm1.1Jno> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19587282 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
55 ClinVarVariant:53278 NM_000492.3(CFTR):c.1518C>G (p.Ile506Met) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
56 ClinVarVariant:10116 NM_000132.3(F8):c.5183A>G (p.Tyr1728Cys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2106480|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
57 ClinVarVariant:10106 F8, LINE INS, EX14 NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2831458|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
58 ClinVarVariant:10136 F8, EX5DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2104741|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
59 MGI:2387410 Htr1a<tm1Tct> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:9844013 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
60 ClinVarVariant:219158 NM_000551.3(VHL):c.548C>G (p.Ser183Trp) NCBITaxon:9606 Homo sapiens NCBIGene:7428 VHL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
61 ClinVarVariant:53238 NM_000492.3(CFTR):c.137C>A (p.Ala46Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
62 ClinVarVariant:10176 NM_000132.3(F8):c.493C>T (p.Pro165Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:8307558|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
63 ClinVarVariant:10186 NM_000132.3(F8):c.822G>A (p.Trp274Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7728145|PMID:9302853|PMID:6438527|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
64 ClinVarVariant:10196 NM_000132.3(F8):c.935T>C (p.Phe312Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:1908096 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
65 ClinVarVariant:1770 NG_007110.2:g.4247_24291del20045 NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12658575|PMID:8539655|PMID:15857188|PMID:21883167|PMID:14871915|PMID:17587321|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
66 ClinVarVariant:102769 NM_000277.1(PAH):c.648C>G (p.Tyr216Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
67 MGI:1928293 Grin2b<tm1Rsp> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23201971 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
68 ClinVarVariant:67499 NM_000238.3(KCNH2):c.3470C>T (p.Pro1157Leu) NCBITaxon:9606 Homo sapiens NCBIGene:3757 KCNH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:9172914|PMID:9602186|PMID:15913580|PMID:17854255|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
69 ClinVarVariant:1760 NM_000251.2(MSH2):c.2113delG (p.Val705Trpfs) NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8539655|PMID:15857188|PMID:21883167|PMID:17587321|PMID:22773173|PMID:8723682 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
70 MGI:5568206 Mecp2<tm1.1Jtc> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24283265 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
71 ClinVarVariant:7136 NM_000492.3(CFTR):c.3909C>G (p.Asn1303Lys) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1380943|PMID:1998343|PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
72 ClinVarVariant:7146 NM_000492.3(CFTR):c.424delA (p.Ile142Phefs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:1710599|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
73 ClinVarVariant:10326 NM_000132.3(F8):c.6699delG (p.Arg2234Glyfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:7728145|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
74 ClinVarVariant:188771 NM_000277.1(PAH):c.168_168+1delGGinsAA NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1301942|PMID:8825928 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
75 ClinVarVariant:7116 NM_000492.3(CFTR):c.1646G>A (p.Ser549Asn) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1695717|PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
76 ClinVarVariant:10336 F8, EX2-4DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:8307558 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
77 ClinVarVariant:159131 NM_015384.4(NIPBL):c.4818_4819delAG (p.Arg1606Serfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
78 ClinVarVariant:209064 NM_000492.3(CFTR):c.(1584+1_1585-1)_(1679+1_1680-1)del NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
79 MGI:5308748 Bhv31 NCBITaxon:10090 Mus musculus MGI:5308748 Bhv31 RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
80 ClinVarVariant:159121 NM_133433.3(NIPBL):c.4593T>G (p.Tyr1531Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
81 ClinVarVariant:209054 NM_000492.3(CFTR):c.3899dupT (p.Arg1301Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
82 ClinVarVariant:53991 NM_000492.3(CFTR):c.531delT (p.Ile177Metfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
83 ClinVarVariant:159111 NM_015384.4(NIPBL):c.4275_4287delAAATGTCAGTGAA (p.Glu1425Aspfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
84 ClinVarVariant:209044 NM_000492.3(CFTR):c.2462_2463delGT (p.Ser821Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
85 ClinVarVariant:56293 NM_001042432.1(CLN3):c.954_962+18del27 NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
86 ClinVarVariant:48672 NM_000492.3(CFTR):c.223C>T (p.Arg75Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
87 ClinVarVariant:56283 NM_001042432.1(CLN3):c.569delG (p.Gly190Glufs) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
88 ClinVarVariant:67894 NM_000335.4(SCN5A):c.4453T>C (p.Phe1485Leu) NCBITaxon:9606 Homo sapiens NCBIGene:6331 SCN5A HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:9172914|PMID:17210841|PMID:9602186|PMID:17210839|PMID:17854255|PMID:22796196|PMID:20038812 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
89 ClinVarVariant:120297 NM_000277.1(PAH):c.931_932delCT (p.Leu311Glyfs) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
90 MGI:3653427 Htr2a<tm2Grch> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006|ECO:0000006|ECO:0000006 experimental evidence|experimental evidence|experimental evidence PMID:16873667|PMID:16873667|PMID:16873667 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
91 MGI:2181421 Tg(Camk2a-cre)1Gsc NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16216087 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
92 ClinVarVariant:4690 VPS13A, 2-BP DUP, 3556AC NCBITaxon:9606 Homo sapiens NCBIGene:23230 VPS13A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
93 MGI:1928287 Grin2a<tm1Rsp> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23201971 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
94 dbSNP:rs11568377 rs11568377-A NCBITaxon:9606 Homo sapiens NCBIGene:8647 ABCB11 HP:0000740 Episodic paroxysmal anxiety ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:24058526|PMID:3375880|PMID:21425450|PMID:9491171|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
95 ClinVarVariant:56243 NM_001042432.1(CLN3):c.1000C>T (p.Arg334Cys) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
96 ClinVarVariant:48692 NM_000492.3(CFTR):c.532G>A (p.Gly178Arg) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
97 ClinVarVariant:120277 NM_000277.1(PAH):c.504C>A (p.Tyr168Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
98 ClinVarVariant:120287 NM_000277.1(PAH):c.812A>T (p.His271Leu) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
99 MGI:4830980 Mecp2<tm1.1Irsf> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:25634563 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
100 ClinVarVariant:120257 NM_000277.1(PAH):c.1004A>C (p.Lys335Thr) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
101 ClinVarVariant:89519 NM_000179.2(MSH6):c.426G>A (p.Trp142Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2956 MSH6 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10348829|PMID:8539655|PMID:15857188|PMID:21883167|PMID:15483016|PMID:14974087|PMID:17587321|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
102 MGI:3819793 Sox4<M91Ark> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16109771 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
103 ClinVarVariant:36768 NM_003000.2(SDHB):c.32G>A (p.Arg11His) NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
104 ClinVarVariant:2405 NM_032409.2(PINK1):c.813C>A (p.His271Gln) NCBITaxon:9606 Homo sapiens NCBIGene:100861548 PINK1-AS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15349870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
105 ClinVarVariant:579 NM_000277.1(PAH):c.977G>A (p.Trp326Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1349576 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
106 MGI:3580576 Nsila9<C57BL/6J> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000304 traceable author statement used in manual assertion PMID:15904718 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
107 ClinVarVariant:7201 NM_000492.3(CFTR):c.1654C>T (p.Gln552Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7504969|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
108 ClinVarVariant:53583 NM_000492.3(CFTR):c.2875delG (p.Ala959Hisfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7530553|PMID:7866213|PMID:20171652|PMID:20932301|PMID:22658665|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
109 ClinVarVariant:2415 NM_032409.2(PINK1):c.1366C>T (p.Gln456Ter) NCBITaxon:9606 Homo sapiens NCBIGene:100861548 PINK1-AS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16769864|PMID:18685134 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
110 ClinVarVariant:589 NM_000277.1(PAH):c.842C>T (p.Pro281Leu) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:7807961|PMID:1769645|PMID:2044609 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
111 ClinVarVariant:7211 NM_000492.3(CFTR):c.3276C>G (p.Tyr1092Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
112 MGI:3603303 Thra<tm3Ven> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16131613 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
113 ClinVarVariant:53563 NM_000492.3(CFTR):c.2763_2764dupAG (p.Val922Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
114 MGI:3605473 Npas3<tm1Ewb> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16190882 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
115 MGI:3822005 Vnhv1<DBA/2J> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000304 traceable author statement used in manual assertion PMID:18721828 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
116 ClinVarVariant:7241 NM_003001.3(SDHC):c.3G>A (p.Met1Ile) NCBITaxon:9606 Homo sapiens NCBIGene:6391 SDHC HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:11062460 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
117 ClinVarVariant:7221 NM_000492.3(CFTR):c.3161delA (p.His1054Leufs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:7522211|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
118 ClinVarVariant:599 NM_000277.1(PAH):c.842+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:23430918|PMID:20920871|PMID:1671810|PMID:12649065|PMID:16601866|PMID:23932990|PMID:24350308|PMID:16256386|PMID:19444284|PMID:17096675|PMID:12655553|PMID:16198137|PMID:23764561|PMID:23856132|PMID:10394930|PMID:1671810|PMID:19609714 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
119 ClinVarVariant:10983 NM_001032383.1(PQBP1):c.547_569del23 (p.Glu183Glnfs) NCBITaxon:9606 Homo sapiens NCBIGene:10084 PQBP1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16493439 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
120 ClinVarVariant:53838 NM_000492.3(CFTR):c.3883_3886delATTT (p.Ile1295Phefs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7520798|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
121 ClinVarVariant:120290 NM_000277.1(PAH):c.869A>T (p.His290Leu) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
122 ClinVarVariant:67109 NM_000218.2(KCNQ1):c.820A>G (p.Ile274Val) NCBITaxon:9606 Homo sapiens NCBIGene:3784 KCNQ1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:17854255|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
123 ClinVarVariant:102872 NM_000277.1(PAH):c.842+5G>A NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:18299955|PMID:8889590|PMID:8889590|PMID:19609714|PMID:24401910|PMID:10394930|PMID:23932990|PMID:17502162|PMID:18294361|PMID:23430918 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
124 MGI:3809938 Akap5<tm1.1Jsco> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:18711127 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
125 ClinVarVariant:67539 NM_000238.3(KCNH2):c.881G>T (p.Gly294Val) NCBITaxon:9606 Homo sapiens NCBIGene:3757 KCNH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:9172914|PMID:9602186|PMID:17854255|PMID:15913580|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
126 ClinVarVariant:218337 NM_000520.5(HEXA):c.1178G>C (p.Arg393Pro) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16301864|PMID:8355954|PMID:696935|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
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parents: 7
diff changeset
127 MGI:3711215 Fmr1<tm1Usdn> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21220020 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
128 ClinVarVariant:159236 NM_133433.3(NIPBL):c.772-1G>A NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
129 ClinVarVariant:102439 TTC19, 4-BP DEL, 964GGCT NCBITaxon:9606 Homo sapiens NCBIGene:54902 TTC19 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:24368687 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
130 ClinVarVariant:159226 NM_133433.3(NIPBL):c.7306G>A (p.Ala2436Thr) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
131 ClinVarVariant:159206 NM_015384.4(NIPBL):c.6648_6649delTA (p.Tyr2216Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
132 ClinVarVariant:159216 NM_015384.4(NIPBL):c.7011_7012delGG (p.Lys2337Asnfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
133 ClinVarVariant:11569 NM_002578.4(PAK3):c.199C>T (p.Arg67Cys) NCBITaxon:9606 Homo sapiens NCBIGene:5063 PAK3 HP:0000739 Anxiety ECO:0000269 experimental evidence used in manual assertion PMID:10946356|PMID:9332663 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
134 ClinVarVariant:6893 NM_003002.3(SDHD):c.112C>T (p.Arg38Ter) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:12000816|PMID:11156372|PMID:11156372|PMID:6829807|PMID:10657297|PMID:14605591|PMID:17474956|PMID:12000816|PMID:19569019|PMID:10657297|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
135 MGI:3040519 H2-K NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059 experimental phenotypic evidence PMID:10386391 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
136 MGI:3809545 Tg(RCAN1)M9Mapr NCBITaxon:10090 Mus musculus NCBIGene:1827 RCAN1 RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:22511596|PMID:22511596 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
137 MGI:2176236 Idua<tm1Clk> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18022143 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
138 ClinVarVariant:126961 NM_017849.3(TMEM127):c.-18C>T NCBITaxon:9606 Homo sapiens NCBIGene:55654 TMEM127 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
139 MGI:5435698 Shank2<tm1.1Tmb> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:22699619|PMID:22699619 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
140 MGI:5562642 Cpeb3<tm1.2Yshu> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24155305 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
141 MGI:3828099 Npas4<tm1Meg> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18815592 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
142 MGI:5634106 Tg(Thy1-EGFP/SQSTM1)02Mcwo NCBITaxon:10090 Mus musculus NCBIGene:8878 SQSTM1 RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:23591541|PMID:23591541 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
143 ClinVarVariant:8980 NM_001079668.2(NKX2-1):c.745C>T (p.Gln249Ter) NCBITaxon:9606 Homo sapiens NCBIGene:7080 NKX2-1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16220345 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
144 MGI:3580577 Nsila10<A/J> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000304 traceable author statement used in manual assertion PMID:15904718 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
145 MGI:3618114 H2-K<bm1> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10386391 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
146 ClinVarVariant:13910 NM_020630.4(RET):c.1901G>C (p.Cys634Ser) NCBITaxon:9606 Homo sapiens NCBIGene:5979 RET HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12000816|PMID:6829807|PMID:3078962|PMID:17474956|PMID:14605591|PMID:7907913|PMID:19569019|PMID:8099202|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
147 MGI:3528873 Tg(PDGFB-SNCA)4Ema NCBITaxon:10090 Mus musculus NCBIGene:6622 SNCA RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:12846986|PMID:12846986 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
148 MGI:3580550 Nsila10 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059 experimental phenotypic evidence PMID:15904718 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
149 ClinVarVariant:10141 NM_000132.3(F8):c.985T>C (p.Cys329Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2107542|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
150 ClinVarVariant:10151 F8, IVS6DS, A-G, +3, 186-BP DEL, EX5-6 DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:8069313|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
151 ClinVarVariant:159048 NM_015384.4(NIPBL):c.2108delC (p.Pro703Glnfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
152 ClinVarVariant:67534 NM_000238.3(KCNH2):c.835G>A (p.Val279Met) NCBITaxon:9606 Homo sapiens NCBIGene:3757 KCNH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:17210839|PMID:9172914|PMID:9602186|PMID:17854255|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
153 ClinVarVariant:159148 NM_015384.4(NIPBL):c.5389_5392delTCTG (p.Ser1797Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
154 MGI:3800596 Mecp2<tm1Pplt> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16467389 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
155 ClinVarVariant:159118 NM_133433.3(NIPBL):c.4543G>T (p.Glu1515Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
156 ClinVarVariant:10181 NM_000132.3(F8):c.687_688delAG (p.Glu230Asnfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:8307558|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
157 ClinVarVariant:10191 NM_000132.3(F8):c.896A>T (p.Asn299Ile) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:8322269|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
158 ClinVarVariant:100728 NM_000405.4(GM2A):c.333delC (p.Cys112Valfs) NCBITaxon:9606 Homo sapiens NCBIGene:2760 GM2A HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16301864|PMID:8355954|PMID:696935|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
159 ClinVarVariant:10161 F8, 23-BP DEL, FS NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:1908096|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
160 ClinVarVariant:10171 NM_000132.3(F8):c.396A>C (p.Glu132Asp) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:7728145|PMID:6438527 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
161 ClinVarVariant:53988 NM_000492.3(CFTR):c.53+1G>T NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20059485|PMID:10361400|PMID:20659818|PMID:16596947|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23276700|PMID:22658665 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
162 ClinVarVariant:10636 F9, EX51INS NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
163 dbSNP:rs1403543 rs1403543-A NCBITaxon:9606 Homo sapiens NCBIGene:186 AGTR2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:21602797|PMID:12796866 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
164 MGI:2387415 Hrh3<tm1Twl> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:12130692 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
165 ClinVarVariant:10666 NM_000133.3(F9):c.755G>C (p.Cys252Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:12780784|PMID:10734657|PMID:1615485|PMID:12997790|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
166 ClinVarVariant:10656 NM_000133.3(F9):c.31T>A (p.Ser11Thr) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:1598234|PMID:8318985|PMID:10734657|PMID:1897528|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
167 ClinVarVariant:602 NM_000277.1(PAH):c.776C>T (p.Ala259Val) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:2035532 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
168 dbSNP:rs826221 rs826221-A NCBITaxon:9606 Homo sapiens NCBIGene:7068 THRB HP:0000740 Episodic paroxysmal anxiety ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:9491171|PMID:24058526|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
169 ClinVarVariant:54014 NM_000492.3(CFTR):c.580-1G>T NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
170 ClinVarVariant:10091 F8, EX24-25DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:3035554|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
171 ClinVarVariant:612 NM_000277.1(PAH):c.1223G>A (p.Arg408Gln) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1312992|PMID:1355066|PMID:1312992|PMID:1355066 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
172 ClinVarVariant:159028 NM_015384.4(NIPBL):c.1086_1087delTT (p.Arg364Cysfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
173 ClinVarVariant:622 NM_000277.1(PAH):c.3G>A (p.Met1Ile) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1301947 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
174 ClinVarVariant:159038 NM_133433.3(NIPBL):c.1576C>T (p.Gln526Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
175 ClinVarVariant:53938 NM_000492.3(CFTR):c.4296_4297insGA (p.Ser1435Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
176 ClinVarVariant:10121 F8, EX1-5DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2473810|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
177 ClinVarVariant:53948 NM_000492.3(CFTR):c.442delA (p.Ile148Leufs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
178 ClinVarVariant:10131 NM_000132.3(F8):c.2114-?_5219+?del (p.?) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:2473810 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
179 ClinVarVariant:208179 NM_000277.1(PAH):c.1025C>A (p.Ala342Glu) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
180 ClinVarVariant:10101 F8, EX3-13DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:2833855 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
181 MGI:5584016 Mecp2<tm1.1Dhy> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:24352790 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
182 MGI:3717228 Tg(Thy1-MAPT)22Schd NCBITaxon:10090 Mus musculus NCBIGene:4137 MAPT RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:16877359|PMID:16877359 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
183 MGI:2148557 Axtofd3 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000059 experimental phenotypic evidence PMID:14990867 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
184 ClinVarVariant:592 NM_000277.1(PAH):c.1238G>C (p.Arg413Pro) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:2006152 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
185 MGI:3528737 Galr3<tm1Lex> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24782539 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
186 MGI:2176172 Tg(Nes-cre)1Kln NCBITaxon:10090 Mus musculus MGI:101784 Nes MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23499007 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
187 MGI:2179062 Tg(Camk2a-tTA)1Mmay NCBITaxon:10090 Mus musculus MGI:88256 Camk2a MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006|ECO:0000006 experimental evidence|experimental evidence|experimental evidence PMID:19420255|PMID:22084082|PMID:24503275 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
188 ClinVarVariant:99926 NM_133433.3(NIPBL):c.3445C>T (p.Arg1149Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
189 MGI:1857026 Foxq1<sa> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16109771 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
190 ClinVarVariant:99936 NM_133433.3(NIPBL):c.6631G>T (p.Glu2211Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
191 dbSNP:rs4869931 rs4869931-A NCBITaxon:9606 Homo sapiens NCBIGene:57480 PLEKHG1 HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:9491171|PMID:17938043|PMID:24058526 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
192 MGI:3812600 Elfn1<tm1(KOMP)Vlcg> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:24312227 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
193 ClinVarVariant:53243 NM_000492.3(CFTR):c.1393-2A>G NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
194 ClinVarVariant:582 NM_000277.1(PAH):c.782G>A (p.Arg261Gln) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8487271|PMID:2574153|PMID:1915502|PMID:17630668|PMID:1971144 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
195 MGI:5495816 Ddc<tm1.1Nwlh> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23275025 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
196 ClinVarVariant:102604 NM_000277.1(PAH):c.168+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8807331|PMID:18299955 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
197 ClinVarVariant:12675 NM_212472.2(PRKAR1A):c.709-7_709-2delTTTTTA NCBITaxon:9606 Homo sapiens NCBIGene:5573 PRKAR1A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16464939|PMID:12213893 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
198 ClinVarVariant:136209 NM_017849.3(TMEM127):c.268G>A (p.Val90Met) NCBITaxon:9606 Homo sapiens NCBIGene:55654 TMEM127 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
199 MGI:1861926 Gabrd<tm1Geh> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18667149 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
200 MGI:5775620 Shank3<tm3.1Gfng> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:26687841|PMID:26687841 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
201 ClinVarVariant:219353 NM_001127701.1(SERPINA1):c.1108_1115delGAAGCTGCinsAAAAACA (p.Glu370Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:18376109|PMID:3878661|PMID:19072562|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
202 ClinVarVariant:5776 NM_003919.2(SGCE):c.1114C>T (p.Arg372Ter) NCBITaxon:9606 Homo sapiens NCBIGene:64921 CASD1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15728306 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
203 ClinVarVariant:120260 NM_000277.1(PAH):c.1163T>C (p.Val388Ala) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
204 ClinVarVariant:38493 NM_000492.3(CFTR):c.2052delA (p.Lys684Asnfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
205 ClinVarVariant:120270 NM_000277.1(PAH):c.196G>T (p.Glu66Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
206 ClinVarVariant:120280 NM_000277.1(PAH):c.591G>C (p.Leu197Phe) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
207 MGI:5620796 Tg(Camk2a-Magi2)1Shlee NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:25653350|PMID:25653350 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
208 MGI:3835761 Wfs1<tm1Koks> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19477223 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
209 ClinVarVariant:102664 NM_000277.1(PAH):c.400C>T (p.Gln134Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:17096675 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
210 MGI:2177743 Htt<tm1Hay> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23001568 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
211 ClinVarVariant:3909 HEXA, 5-BP DEL, TCTCC, IVS9 NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:20597919|PMID:16301864|PMID:1833974|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
212 ClinVarVariant:10331 NM_000132.3(F8):c.6912_6916delAAATC (p.Asn2305Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
213 ClinVarVariant:7111 NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:23974870|PMID:12796866|PMID:2236053 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
214 ClinVarVariant:5391 NM_015713.4(RRM2B):c.979C>T (p.Arg327Ter) NCBITaxon:9606 Homo sapiens NCBIGene:50484 RRM2B HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:19664747 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
215 ClinVarVariant:53483 NM_000492.3(CFTR):c.2374C>T (p.Arg792Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
216 ClinVarVariant:10321 NM_000132.3(F8):c.6544C>T (p.Arg2182Cys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:1412186|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
217 ClinVarVariant:10311 NM_000132.3(F8):c.6413C>A (p.Ser2138Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:7728145|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
218 MGI:2386303 Slc6a3<tm1Mca> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:12617953 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
219 ClinVarVariant:53423 NM_000492.3(CFTR):c.1A>G (p.Met1Val) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7527269|PMID:10361400|PMID:19910674|PMID:23891399|PMID:7866213|PMID:20171652|PMID:23974870|PMID:20495477|PMID:23974870|PMID:21520337|PMID:7505689|PMID:12796866|PMID:15698946|PMID:7538127 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
220 ClinVarVariant:7063 NC_000001.10:g.(8018845_8022846)_(8037799_8044954)del NCBITaxon:9606 Homo sapiens NCBIGene:11315 PARK7 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:20639397|PMID:12446870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
221 ClinVarVariant:38833 NM_000492.3(CFTR):c.366T>A (p.Tyr122Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:23974870|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
222 ClinVarVariant:1474 NM_000190.3(HMBS):c.766C>A (p.His256Asn) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8262523 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
223 ClinVarVariant:6915 NM_003002.3(SDHD):c.33C>A (p.Cys11Ter) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12000816|PMID:6829807|PMID:17474956|PMID:14605591|PMID:19569019|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
224 ClinVarVariant:1464 NM_000190.3(HMBS):c.331G>A (p.Gly111Arg) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8270254|PMID:10494093 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
225 MGI:1934018 Naglu<tm1Efn> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10588735 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
226 ClinVarVariant:6905 NM_003002.3(SDHD):c.277_279delTAT (p.Tyr93del) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:11391796 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
227 MGI:3802585 Crem<tm1.1Endo> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18562617 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
228 ClinVarVariant:180193 NM_015384.4(NIPBL):c.4321G>T (p.Val1441Leu) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
229 ClinVarVariant:225134 NM_000277.1(PAH):c.320A>G (p.His107Arg) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
230 ClinVarVariant:35857 NM_000492.3(CFTR):c.2988G>A (p.Gln996=) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
231 ClinVarVariant:9971 FMR1, IVS2AS1, G-T, -1 AND G-A, +1 NCBITaxon:9606 Homo sapiens NCBIGene:2332 FMR1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18297385|PMID:16176388|PMID:14994287|PMID:19429055|PMID:10972251|PMID:7670500 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
232 ClinVarVariant:1454 NM_000190.3(HMBS):c.91G>A (p.Ala31Thr) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8270254 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
233 ClinVarVariant:211639 NM_133433.3(NIPBL):c.458+1_458+2dup NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
234 ClinVarVariant:35887 NM_000492.3(CFTR):c.592G>A (p.Ala198Thr) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
235 ClinVarVariant:211649 NM_015384.4(NIPBL):c.5739_5740delCT (p.Trp1914Valfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
236 ClinVarVariant:7151 NM_000492.3(CFTR):c.1572C>A (p.Cys524Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:1284466|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
237 ClinVarVariant:12778 NM_003000.2(SDHB):c.268C>T (p.Arg90Ter) NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:6829807|PMID:14605591|PMID:11404820|PMID:17474956|PMID:11404820|PMID:9509062|PMID:19569019|PMID:16317055|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
238 ClinVarVariant:7161 NM_000492.3(CFTR):c.3184_3188dupCTATG (p.Trp1063Cysfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1284639|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
239 ClinVarVariant:10341 F8, EX14-21DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:2125022|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
240 ClinVarVariant:3919 NM_000520.5(HEXA):c.540C>G (p.Tyr180Ter) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1322637|PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
241 ClinVarVariant:10351 NM_000132.3(F8):c.592T>G (p.Cys198Gly) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:12406074|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
242 ClinVarVariant:3929 NM_000520.5(HEXA):c.632T>C (p.Phe211Ser) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8490625|PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
243 ClinVarVariant:12915 NM_152296.4(ATP1A3):c.2767G>A (p.Asp923Asn) NCBITaxon:9606 Homo sapiens NCBIGene:478 ATP1A3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:19652145|PMID:24842602 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
244 ClinVarVariant:35867 NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15952991|PMID:16429425|PMID:19843100|PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:25033378|PMID:20495477|PMID:12796866|PMID:21520337 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
245 ClinVarVariant:53303 NM_000492.3(CFTR):c.164+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
246 ClinVarVariant:102844 NM_000277.1(PAH):c.806delT (p.Ile269Thrfs) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9012412 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
247 ClinVarVariant:35837 NM_000492.3(CFTR):c.2051_2052delAAinsG (p.Lys684Serfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
248 ClinVarVariant:7171 NM_000492.3(CFTR):c.1040G>T (p.Arg347Leu) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7683952|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
249 ClinVarVariant:12788 NM_003000.2(SDHB):c.299C>T (p.Ser100Phe) NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
250 ClinVarVariant:7141 NM_000492.3(CFTR):c.2551C>T (p.Arg851Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:24633926|PMID:23687349|PMID:23974870|PMID:10923036|PMID:1723056|PMID:7866213|PMID:20171652|PMID:20495477|PMID:15776432|PMID:23065710|PMID:12796866|PMID:15181619|PMID:24019231|PMID:10361400|PMID:1723056|PMID:17331079|PMID:23276700|PMID:19202204|PMID:9439669 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
251 ClinVarVariant:7191 CFTR, GLN524HIS NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7504969|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
252 ClinVarVariant:7181 NM_000492.3(CFTR):c.274G>A (p.Glu92Lys) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7683954|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
253 ClinVarVariant:35817 NM_000492.3(CFTR):c.114C>G (p.Tyr38Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
254 ClinVarVariant:10201 NM_000132.3(F8):c.986G>A (p.Cys329Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:7728145|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
255 MGI:3617352 Tuba1a<Jna> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:17218254 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
256 MGI:3811632 Adm<tm1Mtnz> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18723674 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
257 ClinVarVariant:8972 NC_000014.8:g.(36407609_36463186)_(37638963_37670256)del NCBITaxon:9606 Homo sapiens NCBIGene:51562 MBIP HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:11971878 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
258 ClinVarVariant:75245 NM_002608.3(PDGFB):c.3G>A (p.Met1Ile) NCBITaxon:9606 Homo sapiens NCBIGene:5155 PDGFB HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:23913003 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
259 ClinVarVariant:10301 NM_000132.3(F8):c.5961delA (p.Glu1988Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
260 ClinVarVariant:35877 NM_000492.3(CFTR):c.380_382dupTAT (p.Leu127_Cys128insLeu) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
261 ClinVarVariant:180203 NM_005641.3(TAF6):c.136C>T (p.Arg46Cys) NCBITaxon:9606 Homo sapiens NCBIGene:6878 TAF6 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
262 ClinVarVariant:211629 NM_133433.3(NIPBL):c.286_287insG (p.Leu96Cysfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
263 MGI:5313432 Vamp7<tm1.1Ics> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22323709 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
264 ClinVarVariant:8489 NM_001127221.1(CACNA1A):c.2141T>C (p.Val714Ala) NCBITaxon:9606 Homo sapiens NCBIGene:773 CACNA1A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8898206 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
265 MGI:3759303 Tg(Camk2a-cre/ERT2)2Gsc NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21885734 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
266 ClinVarVariant:102824 NM_000277.1(PAH):c.755G>A (p.Arg252Gln) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
267 MGI:1861914 Csk<tm1Sor> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22348736 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
268 ClinVarVariant:100679 NM_007059.3(KPTN):c.776C>A (p.Ser259Ter) NCBITaxon:9606 Homo sapiens NCBIGene:11133 KPTN HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:24239382 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
269 dbSNP:rs12883884 rs12883884-T NCBITaxon:9606 Homo sapiens NCBIGene:6547 SLC8A3 HP:0000740 Episodic paroxysmal anxiety ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:21602797 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
270 ClinVarVariant:8499 NM_001127221.1(CACNA1A):c.4151A>G (p.Tyr1384Cys) NCBITaxon:9606 Homo sapiens NCBIGene:773 CACNA1A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:11061267|PMID:9915947|PMID:8898206 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
271 MGI:5523992 Cnr1<tm2Ltz> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23785142 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
272 MGI:5551305 Kalrn<tm2.1Npl> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23116210 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
273 MGI:3505768 Tg(Tuba1-cre)1Tes NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18723674 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
274 ClinVarVariant:159248 NM_133433.3(NIPBL):c.869-1G>A NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
275 ClinVarVariant:126963 NM_017849.3(TMEM127):c.158G>C (p.Trp53Ser) NCBITaxon:9606 Homo sapiens NCBIGene:55654 TMEM127 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
276 ClinVarVariant:198162 NM_003919.2(SGCE):c.771_772delAT (p.Cys258Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:64921 CASD1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:17296918|PMID:22259621|PMID:18205193 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
277 MGI:3604536 Cer1<tm1Dgen> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence MGI:3604450 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
278 ClinVarVariant:10604 NM_000133.3(F9):c.917A>G (p.Asn306Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2773937|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
279 ClinVarVariant:590 NM_000277.1(PAH):c.611A>G (p.Tyr204Cys) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8051931|PMID:8990021|PMID:2071149|PMID:2071149|PMID:23430918|PMID:19147918|PMID:15503242|PMID:15793771|PMID:9048935|PMID:7844887|PMID:9949232 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
280 MGI:3806156 Ndst3<tm1.1Grob> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:18385133 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
281 MGI:3819691 Rgsc1770 NCBITaxon:10090 Mus musculus MGI:3819691 Rgsc1770 RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence MGI:3778963 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
282 ClinVarVariant:17094 NM_000249.3(MLH1):c.350C>T (p.Thr117Met) NCBITaxon:9606 Homo sapiens NCBIGene:4292 MLH1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
283 ClinVarVariant:3920 NM_000520.5(HEXA):c.1073+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1837283|PMID:8490625|PMID:26633545|PMID:1307230|PMID:1301938|PMID:20597919|PMID:8355954|PMID:1387685|PMID:2739956|PMID:8326491|PMID:696935|PMID:22975760|PMID:8444467|PMID:16301864|PMID:1837283|PMID:22344438|PMID:21228398|PMID:1384323 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
284 ClinVarVariant:3930 NM_000520.5(HEXA):c.380T>G (p.Leu127Arg) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8490625|PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
285 MGI:5293802 Rln3<tm1Mast> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21887138 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
286 ClinVarVariant:211620 NM_015384.4(NIPBL):c.1146dupT (p.Ser383Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
287 MGI:3759300 Dlgap3<tm1Gfng> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:17713528 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
288 MGI:3604467 Prss12<tm1Dgen> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence MGI:3604450 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
289 ClinVarVariant:3900 NM_000520.5(HEXA):c.509G>A (p.Arg170Gln) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2141777|PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
290 ClinVarVariant:3910 HEXA, 2-BP DEL, TG, EX5 NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1833974|PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
291 MGI:3028827 Mmp24<tm1Ski> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:14741353 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
292 ClinVarVariant:10664 NM_000133.3(F9):c.277+2T>C NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10942410|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
293 MGI:2668495 Serpini1<tm1Dpw> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:12837630 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
294 ClinVarVariant:53636 NM_000492.3(CFTR):c.3039delC (p.Tyr1014Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
295 MGI:3055492 Bbs4<Gt1Nk> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:16794820 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
296 ClinVarVariant:15292 NM_000518.4(HBB):c.364G>A (p.Glu122Lys) NCBITaxon:9606 Homo sapiens NCBIGene:3043 HBB HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:9491171|PMID:17938043|PMID:3375880|PMID:21425450 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
297 ClinVarVariant:211630 NM_015384.4(NIPBL):c.2965dupA (p.Ile989Asnfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
298 ClinVarVariant:5614 NM_181675.3(PPP2R2B):c.27_29CAG(7_28) (p.Ser17_Ser19del) NCBITaxon:9606 Homo sapiens NCBIGene:5521 PPP2R2B HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:20533062|PMID:11198281|PMID:16138911|PMID:9403486|PMID:10581021 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
299 ClinVarVariant:211640 NM_133433.3(NIPBL):c.4580_4581insCCTGTCAACTAACATGT (p.Thr1528Leufs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
300 ClinVarVariant:161999 NM_000492.3(CFTR):c.2443G>T (p.Glu815Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
301 MGI:5568123 Sv2c<tm1Dda> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23458503 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
302 ClinVarVariant:10564 F9, ARG-4TRP NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:1615486|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
303 ClinVarVariant:188855 NM_000520.5(HEXA):c.947dupA (p.Tyr316Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:20597919|PMID:16301864|PMID:16088929|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
304 ClinVarVariant:53696 NM_000492.3(CFTR):c.325_327delTATinsG (p.Tyr109Glyfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:23974870|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
305 ClinVarVariant:188845 NM_000295.4(SERPINA1):c.1158dupC (p.Glu387Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:18376109|PMID:7977369|PMID:11334395|PMID:3878661|PMID:19072562|PMID:23547634|PMID:22016686|PMID:9070606 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
306 MGI:3607718 sau NCBITaxon:10090 Mus musculus MGI:3607718 sau MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:16109771 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
307 MGI:3041581 Axtofd1<L1> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:14990867 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
308 MGI:4973916 Adgrl3<Gt(S17-5H1)Sor> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22575564 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
309 MGI:3840615 Fmr1<tm1Rbd> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20011099 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
310 MGI:1857026 Foxq1<sa> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:16109771 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
311 ClinVarVariant:56286 NM_001042432.1(CLN3):c.586dupG (p.Ala196Glyfs) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
312 ClinVarVariant:56296 NM_001042432.1(CLN3):c.988G>T (p.Val330Phe) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
313 MGI:5634938 Tg(Thy1-EGFP/SQSTM1*P392L)#Mcwo NCBITaxon:10090 Mus musculus NCBIGene:8878 SQSTM1 RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:23591541|PMID:23591541 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
314 ClinVarVariant:56266 NM_001042432.1(CLN3):c.378_379dupCC (p.Arg127Profs) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
315 ClinVarVariant:56276 NM_001042432.1(CLN3):c.49G>T (p.Glu17Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
316 ClinVarVariant:56246 NM_001042432.1(CLN3):c.1054C>T (p.Gln352Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
317 ClinVarVariant:11572 PAK3, IVS6DS, A-G, +4 NCBITaxon:9606 Homo sapiens NCBIGene:5063 PAK3 HP:0000739 Anxiety ECO:0000269 experimental evidence used in manual assertion PMID:18523455 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
318 ClinVarVariant:56256 NM_001042432.1(CLN3):c.1272delG (p.Leu425Serfs) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
319 ClinVarVariant:8520 NG_011569.1:g.(286795_296853)_(303563_305019)del NCBITaxon:9606 Homo sapiens NCBIGene:773 CACNA1A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:19586927 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
320 ClinVarVariant:4683 VPS13A, 1-BP INS, 6404T NCBITaxon:9606 Homo sapiens NCBIGene:23230 VPS13A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:11381253 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
321 MGI:2180119 Adcyap1r1<tm1.1Gsc> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:11483244 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
322 ClinVarVariant:3890 NM_000520.5(HEXA):c.1421+1G>C NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2973464|PMID:2837213|PMID:9222766|PMID:696935|PMID:3362213|PMID:20597919|PMID:3375249|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
323 ClinVarVariant:159156 NM_133433.3(NIPBL):c.5709+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
324 ClinVarVariant:65759 NM_152296.4(ATP1A3):c.2051C>T (p.Ser684Phe) NCBITaxon:9606 Homo sapiens NCBIGene:478 ATP1A3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
325 ClinVarVariant:8510 NM_001127221.1(CACNA1A):c.5126T>C (p.Ile1709Thr) NCBITaxon:9606 Homo sapiens NCBIGene:773 CACNA1A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15452324 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
326 ClinVarVariant:53996 NM_000492.3(CFTR):c.543_546delTAGT (p.Leu183Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
327 ClinVarVariant:209059 NM_000492.3(CFTR):c.1117-1G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
328 ClinVarVariant:159126 NM_015384.4(NIPBL):c.4684_4687delTTTG (p.Phe1562Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
329 MGI:5503119 Kif13a<tm1.1Noh> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23438369 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
330 ClinVarVariant:10634 F9, EX4-5DEL NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:2741941|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
331 MGI:5532204 Gtf2i<tm1Vcam> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20403157 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
332 MGI:5505778 Grin2a<tm1.1Nhk> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23201971 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
333 ClinVarVariant:211660 NM_015384.4(NIPBL):c.7301_7308delATCTAGCCins13 (p.?) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
334 ClinVarVariant:9106 NM_001287174.1(ABCC8):c.1744C>G (p.Leu582Val) NCBITaxon:9606 Homo sapiens NCBIGene:6833 ABCC8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2209327|PMID:9428966|PMID:16885549|PMID:22188726|PMID:22397240|PMID:12429356 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
335 ClinVarVariant:580 NM_000277.1(PAH):c.838G>A (p.Glu280Lys) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9101291|PMID:23500595|PMID:1971144|PMID:2564729|PMID:2564729 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
336 MGI:2148555 Axtofd1 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000059 experimental phenotypic evidence PMID:14990867 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
337 MGI:2176751 Tg(Camk2a-cre)159Kln NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:12973355 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
338 ClinVarVariant:99934 NM_133433.3(NIPBL):c.5566A>G (p.Arg1856Gly) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
339 ClinVarVariant:225890 NM_170740.1(ALDH5A1):c.1382+1_1382+3delinsTT NCBITaxon:9606 Homo sapiens NCBIGene:7915 ALDH5A1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
340 MGI:3665324 Grm3<tm1Ddsc> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:15619115 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
341 MGI:2388144 Rgs2<tm1Pngr> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11027316 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
342 ClinVarVariant:16147 NM_001018077.1(NR3C1):c.1922A>T (p.Asp641Val) NCBITaxon:9606 Homo sapiens NCBIGene:2908 NR3C1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:6841559|PMID:2996089|PMID:186477|PMID:6282933|PMID:1704018 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
343 ClinVarVariant:67472 NM_000238.3(KCNH2):c.3118A>G (p.Ser1040Gly) NCBITaxon:9606 Homo sapiens NCBIGene:3757 KCNH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:9172914|PMID:9602186|PMID:17854255|PMID:17210839|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
344 MGI:1931877 Vim<tm1Cba> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:9888296 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
345 MGI:2387415 Hrh3<tm1Twl> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:15078574 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
346 ClinVarVariant:5774 NM_003919.2(SGCE):c.884dupT (p.Leu295Phefs) NCBITaxon:9606 Homo sapiens NCBIGene:64921 CASD1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:12821748 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
347 ClinVarVariant:13790 NM_006193.2(PAX4):c.361C>T (p.Arg121Trp) NCBITaxon:9606 Homo sapiens NCBIGene:5078 PAX4 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2209327|PMID:9428966|PMID:22188726|PMID:22397240|PMID:12429356|PMID:11723072 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
348 ClinVarVariant:7564 NM_080647.1(TBX1):c.928G>A (p.Gly310Ser) NCBITaxon:9606 Homo sapiens NCBIGene:6899 TBX1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20410726|PMID:21215459|PMID:14585638|PMID:15877762|PMID:22832905|PMID:22526976 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
349 MGI:2178543 Crhr1<tm1Wrst> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:9620773|PMID:9620773 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
350 MGI:5503119 Kif13a<tm1.1Noh> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23438369 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
351 ClinVarVariant:54052 NM_000492.3(CFTR):c.743+1G>C NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22658665|PMID:10361400|PMID:12454843|PMID:20059485|PMID:7866213|PMID:20171652|PMID:20495477|PMID:7472820|PMID:12815607|PMID:12796866|PMID:20932301 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
352 ClinVarVariant:159046 NM_133433.3(NIPBL):c.2093C>G (p.Ser698Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
353 ClinVarVariant:620 NM_000277.1(PAH):c.1092_1106delTCTCCCCCTGGAGCT (p.Leu365_Leu369del) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1363837 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
354 ClinVarVariant:159036 NM_133433.3(NIPBL):c.1477A>G (p.Lys493Glu) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
355 MGI:3800752 Tg(HTT*97Q)IXwy NCBITaxon:10090 Mus musculus NCBIGene:3064 HTT RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006|ECO:0000059 experimental evidence|experimental evidence|experimental phenotypic evidence PMID:24784230|PMID:20064390|PMID:19464370|PMID:20064390|PMID:24784230|PMID:24784230|PMID:19464370 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
356 MGI:5474770 Dnajc9<tm1.1(KOMP)Vlcg> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000015|ECO:0000006 mutant phenotype evidence|experimental evidence MGI:5576271 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/impc.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
357 dbSNP:rs11053548 rs11053548-A NCBITaxon:9606 Homo sapiens NCBIGene:387837 CLEC12B HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:24058526|PMID:9491171|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
358 ClinVarVariant:2151 NM_015384.4(NIPBL):c.-321_-320delCCinsA NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18430761|PMID:17640042|PMID:16799922|PMID:17845236|PMID:19309268|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
359 ClinVarVariant:2141 NIPBL, 1-BP DEL, 150G NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18430761|PMID:17640042|PMID:15146186|PMID:17845236|PMID:19309268|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
360 ClinVarVariant:16157 NM_001018077.1(NR3C1):c.2035G>A (p.Gly679Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2908 NR3C1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16449337|PMID:11589680 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
361 ClinVarVariant:159116 NM_133433.3(NIPBL):c.4439T>G (p.Met1480Arg) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
362 ClinVarVariant:209049 NM_000492.3(CFTR):c.(53+1_54-1)_(164+1_165-1)del NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
363 ClinVarVariant:610 NM_000277.1(PAH):c.781C>T (p.Arg261Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1769645 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
364 ClinVarVariant:31100 NM_019026.4(TMCO1):c.139_140delAG (p.Arg47Thrfs) NCBITaxon:9606 Homo sapiens NCBIGene:54499 TMCO1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:20018682 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
365 ClinVarVariant:600 NM_000277.1(PAH):c.764T>C (p.Leu255Ser) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:2014802 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
366 ClinVarVariant:54012 NM_000492.3(CFTR):c.579+5G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:23974870|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
367 ClinVarVariant:159086 NM_015384.4(NIPBL):c.3526_3530delGAAAA (p.Glu1176Thrfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
368 NCBIGene:387572 PAND1 NCBITaxon:9606 Homo sapiens HP:0000739 Anxiety ECO:0000501|ECO:0000177 evidence used in automatic assertion|genomic context evidence http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
369 ClinVarVariant:159076 NM_133433.3(NIPBL):c.3304+5G>A NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
370 ClinVarVariant:54072 NM_000492.3(CFTR):c.861_865delCTTAA (p.Asn287Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
371 MGI:3528891 Mchr1<tm1Lex> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:15988472 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
372 MGI:5638541 Camk2b<tm1.1Ics> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:25127391|PMID:25127391 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
373 ClinVarVariant:10138 F8, EX5-6 DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2104741|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
374 ClinVarVariant:10128 NM_000132.3(F8):c.6404G>C (p.Arg2135Pro) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:3122181|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
375 ClinVarVariant:10158 NM_000132.3(F8):c.199_200delAA (p.Lys67Aspfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8307558|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
376 ClinVarVariant:67954 NM_000335.4(SCN5A):c.5111T>C (p.Phe1704Ser) NCBITaxon:9606 Homo sapiens NCBIGene:6331 SCN5A HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:9172914|PMID:9602186|PMID:17854255|PMID:18596570|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
377 ClinVarVariant:10118 NM_000132.3(F8):c.5878C>T (p.Arg1960Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:3097553|PMID:15357786|PMID:2861360|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
378 ClinVarVariant:10108 F8, 2-BP DEL, EX8 NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:2105906 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
379 ClinVarVariant:7231 NM_000492.3(CFTR):c.3744delA (p.Lys1250Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:10777364|PMID:7866213|PMID:20171652|PMID:20495477|PMID:23974870|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
380 MGI:5646423 Tm47 NCBITaxon:10090 Mus musculus MGI:5646423 Tm47 RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
381 MGI:3663166 Slc6a4<tm1(cre)Grch> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:16873667 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
382 MGI:3808349 Nhlrc1<tm1(KOMP)Vlcg> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21882344 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
383 ClinVarVariant:10148 NM_000132.3(F8):c.5372T>C (p.Met1791Thr) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1569180|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
384 ClinVarVariant:10178 NM_000132.3(F8):c.554A>C (p.Lys185Thr) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:1924291 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
385 ClinVarVariant:10168 NM_000132.3(F8):c.328A>G (p.Met110Val) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:1908096 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
386 ClinVarVariant:53713 NM_000492.3(CFTR):c.3304A>T (p.Arg1102Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
387 ClinVarVariant:10198 NM_000132.3(F8):c.943delG (p.Ala315Leufs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:7728145|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
388 MGI:2178821 Kcnj11<tm1Sse> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16530794 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
389 MGI:1857129 Apoe<tm1Unc> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:12220566|PMID:15304509 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
390 ClinVarVariant:161996 NM_000492.3(CFTR):c.3963+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
391 ClinVarVariant:53623 NM_000492.3(CFTR):c.3002_3003delTG (p.Val1001Aspfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
392 ClinVarVariant:10098 NM_000132.3(F8):c.6683G>A (p.Arg2228Gln) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:2493803|PMID:10734657|PMID:2106480|PMID:17498080|PMID:15357786|PMID:2104741|PMID:2378544|PMID:2833855 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
393 ClinVarVariant:619 NM_000277.1(PAH):c.1162G>A (p.Val388Met) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:7581408|PMID:1360590|PMID:7668259 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
394 ClinVarVariant:629 NM_000277.1(PAH):c.136G>A (p.Gly46Ser) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8829656 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
395 ClinVarVariant:10188 NM_000132.3(F8):c.849delT (p.Glu284Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
396 ClinVarVariant:53613 NM_000492.3(CFTR):c.2989-1G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21514289|PMID:23974870|PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:17662673|PMID:19265749|PMID:10875853|PMID:17331079|PMID:12796866|PMID:20932506 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
397 ClinVarVariant:10088 NM_000132.3(F8):c.6403C>T (p.Arg2135Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:3097553|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
398 ClinVarVariant:609 NM_000277.1(PAH):c.662A>G (p.Glu221Gly) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1679030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
399 MGI:4359177 Arx<tm4Kki> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19605412 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
400 ClinVarVariant:90068 NM_000249.3(MLH1):c.2141G>A (p.Trp714Ter) NCBITaxon:9606 Homo sapiens NCBIGene:4292 MLH1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
401 MGI:3717174 Tg(Eno2-APOE_i4)1Rabr NCBITaxon:10090 Mus musculus NCBIGene:348 APOE MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15708438 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
402 ClinVarVariant:10571 NM_000133.3(F9):c.218A>T (p.Glu73Val) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:2339358|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
403 MGI:5085889 Lrrtm1<tm1.1Jaru> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:21818371 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
404 ClinVarVariant:9728 m.3308T>C NCBITaxon:9606 Homo sapiens NCBIGene:4535 ND1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:9172914|PMID:13298683|PMID:9602186|PMID:9806551|PMID:10519336|PMID:17854255|PMID:22796196|PMID:10521313 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
405 ClinVarVariant:53653 NM_000492.3(CFTR):c.310delA (p.Arg104Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
406 MGI:4837202 Tg(Fev-cre/ERT2)aEsd NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20818386 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
407 MGI:1932102 Ercc6<tm1Gvh> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:22174697 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
408 ClinVarVariant:188812 NM_000520.5(HEXA):c.915_917delCTT (p.Phe305del) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1322637|PMID:696935|PMID:20597919|PMID:1825014|PMID:16301864|PMID:1837283|PMID:1322637|PMID:1825014|PMID:8355954|PMID:16088929|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
409 ClinVarVariant:10208 NM_000132.3(F8):c.1214T>G (p.Ile405Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:8307558 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
410 MGI:1861799 C3<tm1Crr> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:26400934 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
411 ClinVarVariant:13919 NM_020975.4(RET):c.2753T>C (p.Met918Thr) NCBITaxon:9606 Homo sapiens NCBIGene:5979 RET HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7977365|PMID:2660074|PMID:7906866|PMID:7911697|PMID:9620546|PMID:7536460|PMID:6829807|PMID:7906417|PMID:17474956|PMID:14605591|PMID:19569019|PMID:8825918|PMID:3078962|PMID:7824936|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
412 MGI:3589233 tmgc58 NCBITaxon:10090 Mus musculus MGI:3589233 tmgc58 RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:17629744|PMID:17629744|MGI:3053008 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
413 ClinVarVariant:67426 NM_000238.3(KCNH2):c.2684C>T (p.Thr895Met) NCBITaxon:9606 Homo sapiens NCBIGene:3757 KCNH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:18596570|PMID:9172914|PMID:9602186|PMID:17854255|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
414 ClinVarVariant:634 NM_000277.1(PAH):c.1129delT (p.Tyr377Thrfs) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9450182 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
415 MGI:3612428 Tg(Gnrh1-cre)1Rsp NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16099814 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
416 ClinVarVariant:5778 SGCE, 6,872-BP DEL, EX6DEL NCBITaxon:9606 Homo sapiens NCBIGene:8910 SGCE HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16240355 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
417 ClinVarVariant:5768 NM_003919.2(SGCE):c.289C>T (p.Arg97Ter) NCBITaxon:9606 Homo sapiens NCBIGene:64921 CASD1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:11528394|PMID:15728306 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
418 ClinVarVariant:604 NM_000277.1(PAH):c.284_286delTCA (p.Ile95del) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:17630668|PMID:1709636 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
419 MGI:5496922 Slc18a2<tm1.1Bgir> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21814181 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
420 ClinVarVariant:54036 NM_000492.3(CFTR):c.658C>T (p.Gln220Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
421 ClinVarVariant:54026 NM_000492.3(CFTR):c.613C>T (p.Pro205Ser) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
422 ClinVarVariant:10093 F8, EX22DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:3035554 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
423 ClinVarVariant:614 NM_000277.1(PAH):c.842+2T>A NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1349576 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
424 MGI:4442238 Chd6<tm1.2Fier> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20111866 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
425 MGI:1856628 Dtnbp1<sdy> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:25677649 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
426 ClinVarVariant:120292 NM_000277.1(PAH):c.912+2T>C NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
427 ClinVarVariant:10143 NM_000132.3(F8):c.1075_1078delAATG (p.Asn359Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:2107542 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
428 MGI:3821974 Snap25<tm1.1Bark> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:19043548 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
429 ClinVarVariant:10153 NM_000132.3(F8):c.77T>G (p.Leu26Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
430 MGI:3528558 Csmd1<tm1Lex> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:24244513 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
431 MGI:3697454 Apba2<tm1Tsuz> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19420255 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
432 ClinVarVariant:10163 NM_000132.3(F8):c.266G>A (p.Gly89Asp) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
433 MGI:5608589 Hprt<tm1(CAG-Glra3*)Jcme> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24430185 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
434 ClinVarVariant:120272 NM_000277.1(PAH):c.284_285delTCinsCA (p.Ile95Thr) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
435 MGI:3580544 Nsila4 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059 experimental phenotypic evidence PMID:15904718 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
436 ClinVarVariant:10985 NM_005710.2(PQBP1):c.194A>G (p.Tyr65Cys) NCBITaxon:9606 Homo sapiens NCBIGene:10084 PQBP1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16740914|PMID:20410308|PMID:15782410|PMID:6711604 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
437 MGI:5495768 Dlg4<tm1.1Tdoi> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23268962 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
438 ClinVarVariant:39516 NM_000492.3(CFTR):c.3302T>A (p.Met1101Lys) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:9383031|PMID:10361400|PMID:22981120|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
439 MGI:5634957 Fosb<tm2.1Yun> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21679928 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
440 ClinVarVariant:10173 NM_000132.3(F8):c.404A>G (p.Asp135Gly) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
441 ClinVarVariant:2225 NM_000551.3(VHL):c.562C>G (p.Leu188Val) NCBITaxon:9606 Homo sapiens NCBIGene:7428 VHL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8956040|PMID:6829807|PMID:12414898|PMID:17474956|PMID:14605591|PMID:12000816|PMID:19569019|PMID:12393546|PMID:1576030|PMID:7563486 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
442 ClinVarVariant:2145 NIPBL, 2-BP DEL, 2479AG NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18430761|PMID:17640042|PMID:17845236|PMID:15318302|PMID:19309268|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
443 ClinVarVariant:90073 NM_000249.3(MLH1):c.2154_2155dupCA (p.Ile719Thrfs) NCBITaxon:9606 Homo sapiens NCBIGene:4292 MLH1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8539655|PMID:15857188|PMID:21883167|PMID:14517962|PMID:17587321|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
444 MGI:5432028 Tg(Camk2a-Grin2c/itTA)12Rsp NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19081379 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
445 MGI:1929986 Bdnf<tm1Par> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17023662 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
446 MGI:5618022 Lmtk3<tm1Tya> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:24760852 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
447 ClinVarVariant:10183 F8, IVS6DS, A-G, +3 NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:8069313|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
448 ClinVarVariant:10193 NM_000132.3(F8):c.902G>T (p.Arg301Leu) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
449 ClinVarVariant:1356 ALDH5A1, IVS5, G-A, +1 NCBITaxon:9606 Homo sapiens NCBIGene:7915 ALDH5A1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9683595 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
450 ClinVarVariant:102846 NM_000277.1(PAH):c.809G>A (p.Arg270Lys) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8528673|PMID:17935162 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
451 MGI:1857169 Fmr1<tm1Cgr> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:25432536|PMID:25432536 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
452 MGI:2678096 Crhr1<tm2Wrst> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21885734 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
453 ClinVarVariant:102806 NM_000277.1(PAH):c.722delG (p.Arg241Profs) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16256386|PMID:25456745|PMID:12905706 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
454 ClinVarVariant:53335 NM_000492.3(CFTR):c.1679+1G>C NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
455 ClinVarVariant:53325 NM_000492.3(CFTR):c.166G>A (p.Glu56Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
456 ClinVarVariant:53355 NM_000492.3(CFTR):c.170G>A (p.Trp57Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
457 ClinVarVariant:102876 NM_000277.1(PAH):c.847A>T (p.Ile283Phe) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:24350308|PMID:17924342|PMID:11161839|PMID:9399896|PMID:8097423 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
458 MGI:5523923 Hsd17b4<tm2Baes> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23777740 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
459 ClinVarVariant:10243 F8, 3-BP DEL, PHE652DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:8449505|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
460 ClinVarVariant:38735 NM_000492.3(CFTR):c.1923_1931delCTCAAAACTinsA (p.Ser641Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
461 ClinVarVariant:10233 NM_000132.3(F8):c.1808G>T (p.Ser603Ile) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:7728145|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
462 ClinVarVariant:6897 NM_003002.3(SDHD):c.274G>T (p.Asp92Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:6829807|PMID:12000816|PMID:10657297|PMID:14605591|PMID:21348866|PMID:12000816|PMID:10657297|PMID:17474956|PMID:21348866|PMID:19569019|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
463 ClinVarVariant:10263 NM_000132.3(F8):c.4825dupA (p.Thr1609Asnfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:8307558|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
464 ClinVarVariant:39753 NM_145239.2(PRRT2):c.562C>T (p.Gln188Ter) NCBITaxon:9606 Homo sapiens NCBIGene:112476 PRRT2 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:22744660 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
465 ClinVarVariant:10203 NM_000132.3(F8):c.1078_1079delGA (p.Glu360Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2105906|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
466 ClinVarVariant:8974 NM_001079668.2(NKX2-1):c.713G>T (p.Trp238Leu) NCBITaxon:9606 Homo sapiens NCBIGene:7080 NKX2-1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:11971878 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
467 ClinVarVariant:30433 NM_015713.4(RRM2B):c.965dupA (p.Asn322Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:50484 RRM2B HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:21646632 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
468 MGI:3840549 Lypd1<tm1.1Tmj> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19246390 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
469 ClinVarVariant:10223 NM_000132.3(F8):c.1648C>T (p.Arg550Cys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:1924291|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1301932|PMID:2378544|PMID:1639429 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
470 ClinVarVariant:188514 NM_000251.2(MSH2):c.793-1_796delinsAAATTAAGA NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
471 ClinVarVariant:10213 NM_000132.3(F8):c.1348T>A (p.Tyr450Asn) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:8322269|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
472 dbSNP:rs2577720 rs2577720-C NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:21326311|PMID:9491171|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
473 ClinVarVariant:10283 NM_000132.3(F8):c.5479A>T (p.Lys1827Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:8307558|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
474 ClinVarVariant:126965 NM_017849.3(TMEM127):c.217G>C (p.Gly73Arg) NCBITaxon:9606 Homo sapiens NCBIGene:55654 TMEM127 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
475 ClinVarVariant:10253 NM_000132.3(F8):c.3637delA (p.Ile1213Phefs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:8307558|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
476 ClinVarVariant:10293 NM_000132.3(F8):c.5719dupA (p.Ser1907Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1908096|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
477 MGI:3573914 Aaj4<A/J> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000304 traceable author statement used in manual assertion PMID:15371360 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
478 ClinVarVariant:15933 NM_000516.5(GNAS):c.601C>T (p.Arg201Cys) NCBITaxon:9606 Homo sapiens NCBIGene:2778 GNAS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9626141|PMID:7739708|PMID:1944469|PMID:8766942|PMID:2549426|PMID:12970318|PMID:16507630|PMID:24855271 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
479 ClinVarVariant:1446 NM_000190.3(HMBS):c.500G>A (p.Arg167Gln) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:2243128|PMID:1577472 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
480 ClinVarVariant:29987 FMR1, SER27TER NCBITaxon:9606 Homo sapiens NCBIGene:2332 FMR1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21267007|PMID:18297385|PMID:16176388|PMID:14994287|PMID:19429055|PMID:10972251 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
481 MGI:5635813 Zfp521<tm1Nokh> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:24676388 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
482 ClinVarVariant:53425 NM_000492.3(CFTR):c.200C>T (p.Pro67Leu) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17495464|PMID:23974870|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:15287992|PMID:10361400|PMID:12007216|PMID:9507391|PMID:7691344|PMID:16840743|PMID:18456578|PMID:22658665 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
483 ClinVarVariant:1486 NM_000190.3(HMBS):c.445C>T (p.Arg149Ter) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:17298217|PMID:2864531|PMID:7757070 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
484 ClinVarVariant:7065 NM_007262.4(PARK7):c.78G>A (p.Met26Ile) NCBITaxon:9606 Homo sapiens NCBIGene:11315 PARK7 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:12953260|PMID:22492997 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
485 ClinVarVariant:1476 HMBS, IVS14DS, G-A, +1 NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8096492 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
486 MGI:2680625 Tg(Camk2a-cre)2834Lusc NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22411800 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
487 ClinVarVariant:10273 NM_000132.3(F8):c.5336G>A (p.Gly1779Glu) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:8307558 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
488 ClinVarVariant:13394 NM_000311.3(PRNP):c.160_183GGTGGTGGCTGGGGGCAGCCTCAT(4) (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) NCBITaxon:9606 Homo sapiens NCBIGene:5621 PRNP HP:0000739 Anxiety ECO:0000501|ECO:0000304 evidence used in automatic assertion|traceable author statement used in manual assertion PMID:8750875|PMID:1352724|PMID:2159587|PMID:9883727|PMID:10581230|PMID:10581230|PMID:15557533|PMID:8750875|PMID:2563037|PMID:11160182|PMID:1736177|PMID:9883727|PMID:2159587|PMID:2567794|PMID:1736177|PMID:8618679|PMID:11160182|PMID:14610142|PMID:8618679|PMID:1352724|PMID:10805813|PMID:14610142|PMID:10805813|PMID:11593450|PMID:2563037|PMID:15557533|PMID:2567794|PMID:1973256|PMID:1683708|PMID:11593450|PMID:1683708|PMID:1973256 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
489 ClinVarVariant:10584 NM_000133.3(F9):c.571C>T (p.Arg191Cys) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2408269|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
490 MGI:1857572 Ins2<Akita> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17334640 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
491 ClinVarVariant:10574 NM_000133.3(F9):c.237A>C (p.Glu79Asp) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2773937|PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
492 ClinVarVariant:1755 NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8539655|PMID:15857188|PMID:21883167|PMID:17587321|PMID:8261515|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
493 ClinVarVariant:159196 NM_133433.3(NIPBL):c.65-5A>G NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
494 ClinVarVariant:8487 NM_001127221.1(CACNA1A):c.575G>A (p.Arg192Gln) NCBITaxon:9606 Homo sapiens NCBIGene:773 CACNA1A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8898206 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
495 ClinVarVariant:159186 NM_015384.4(NIPBL):c.6317_6320delTGTG (p.Val2106Glyfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
496 MGI:5475110 Cers1<tm1.1Kwi> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:23074226 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
497 MGI:3835413 Gtf2ird1<tm1Lro> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:17680805 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
498 ClinVarVariant:8497 NM_001127221.1(CACNA1A):c.2145C>A (p.Asp715Glu) NCBITaxon:9606 Homo sapiens NCBIGene:773 CACNA1A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9915947 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
499 ClinVarVariant:188766 NM_000277.1(PAH):c.664_665delGA (p.Asp222Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:23357515|PMID:18937047|PMID:10394930|PMID:8406445|PMID:17935162|PMID:24350308|PMID:23074961 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
500 ClinVarVariant:159106 NM_015384.4(NIPBL):c.4098_4101delAAGT (p.Leu1366Phefs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
501 MGI:3857785 Epm2aip1<Gt(BA0314)Wtsi> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24142699 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
502 dbSNP:rs1318772 rs1318772-G NCBITaxon:9606 Homo sapiens NCBIGene:4163 MCC HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:21326311|PMID:3375880|PMID:21425450|PMID:9491171|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
503 ClinVarVariant:53251 NM_000492.3(CFTR):c.1418delG (p.Gly473Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
504 ClinVarVariant:5419 NM_005456.3(MAPK8IP1):c.176G>A (p.Ser59Asn) NCBITaxon:9606 Homo sapiens NCBIGene:9479 MAPK8IP1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2209327|PMID:9428966|PMID:10700186|PMID:22188726|PMID:22397240|PMID:12429356 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
505 ClinVarVariant:17969 NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:18376109|PMID:3878661|PMID:19072562|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
506 MGI:2152217 Esr2<tm1Unc> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:8248223|PMID:9861029|PMID:15642619 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
507 MGI:5469866 Syngap1<tm2Geno> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:23141534|PMID:23141534 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
508 ClinVarVariant:17979 PI NULL(PROCIDA) NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:18376109|PMID:3878661|PMID:19072562|PMID:23547634|PMID:14985567 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
509 MGI:5307897 Npy1r<tm1.1Ceva> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22084082 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
510 MGI:2388945 Ctns<tm1Antc> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:12370309 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
511 ClinVarVariant:161155 NM_152296.4(ATP1A3):c.1109C>A (p.Thr370Asn) NCBITaxon:9606 Homo sapiens NCBIGene:478 ATP1A3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
512 ClinVarVariant:53211 NM_000492.3(CFTR):c.11C>A (p.Ser4Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
513 MGI:2389228 Bace1<tm1Pcw> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:16354928|PMID:16354928 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
514 ClinVarVariant:219161 NM_003002.3(SDHD):c.386delT NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
515 MGI:2158714 Chrnb2<tm1Mdb> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:15541879 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
516 ClinVarVariant:53926 NM_000492.3(CFTR):c.4234C>T (p.Gln1412Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
517 MGI:2387407 Htr1a<tm1Rhn> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006|ECO:0000006 experimental evidence|experimental evidence|experimental evidence PMID:20152131|PMID:9826725|PMID:9826725 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
518 ClinVarVariant:10624 NM_000133.3(F9):c.1324G>A (p.Gly442Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
519 MGI:1857227 Nos1<tm1Plh> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15158692 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
520 ClinVarVariant:10614 NM_000133.3(F9):c.1144T>C (p.Cys382Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2743975|PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
521 ClinVarVariant:10654 F9, ALU INSERTION, EX5 NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8478007|PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
522 MGI:2182005 Pten<tm2Mak> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:16675393 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
523 ClinVarVariant:53161 NM_000492.3(CFTR):c.1006_1007insG (p.Ile336Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
524 MGI:2181425 Tg(Camk2a-cre)2Gsc NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006|ECO:0000006 experimental evidence|experimental evidence|experimental evidence PMID:17953618|PMID:20005824|PMID:20005824 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
525 ClinVarVariant:10146 NM_000132.3(F8):c.5167G>A (p.Glu1723Lys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1908817|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
526 ClinVarVariant:10156 NM_000132.3(F8):c.121G>T (p.Gly41Cys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
527 MGI:3774019 Slc4a10<tm1.1Cahb> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:18165320 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
528 ClinVarVariant:10166 NM_000132.3(F8):c.311T>A (p.Val104Asp) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1301932|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
529 MGI:2447398 Npy2r<tm1.1Hhz> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:12742262 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
530 ClinVarVariant:10126 NM_000132.3(F8):c.6977G>A (p.Arg2326Gln) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:3012775|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
531 ClinVarVariant:2148 NIPBL, IVS45AS, G-C, -1 NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15318302|PMID:18430761|PMID:17640042|PMID:17845236|PMID:19309268|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
532 ClinVarVariant:48700 NM_000492.3(CFTR):c.803delA (p.Asn268Ilefs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
533 ClinVarVariant:9726 m.3397A>G NCBITaxon:9606 Homo sapiens NCBIGene:4535 ND1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10730508|PMID:19542627|PMID:19472156|PMID:15660409|PMID:17514358|PMID:7624338 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
534 MGI:3830051 Slc1a3<tm1(cre/ERT2)Mgoe> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:18832146 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
535 ClinVarVariant:637 NM_000277.1(PAH):c.913_1199del (p.Ile306Leufs) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:10472529 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
536 ClinVarVariant:91330 NM_000535.6(PMS2):c.2186_2187delTC (p.Leu729Glnfs) NCBITaxon:9606 Homo sapiens NCBIGene:5395 PMS2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8539655|PMID:15857188|PMID:21883167|PMID:15077197|PMID:24440087|PMID:17587321|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
537 MGI:5774859 Tg(Thy1-MAPT*L266V*G272V)13Ema NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:25803611|PMID:25803611 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
538 ClinVarVariant:120285 NM_000277.1(PAH):c.785T>G (p.Val262Gly) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
539 ClinVarVariant:120295 NM_000277.1(PAH):c.913-8A>G NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
540 ClinVarVariant:48680 NM_000492.3(CFTR):c.274-1G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:11668613|PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:10798368|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
541 ClinVarVariant:56281 NM_001042432.1(CLN3):c.560G>C (p.Gly187Ala) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
542 ClinVarVariant:56271 NM_001042432.1(CLN3):c.461-1G>A NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
543 ClinVarVariant:607 NM_000277.1(PAH):c.1066-11G>A NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8401510|PMID:12655546|PMID:1769645|PMID:17630668|PMID:8990013|PMID:1769645|PMID:8116675|PMID:1601425 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
544 ClinVarVariant:10086 NM_000132.3(F8):c.6682C>T (p.Arg2228Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:3097553|PMID:2987704|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
545 MGI:3578226 Gsk3b<tm1Dral> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20357757 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
546 ClinVarVariant:162000 NM_000492.3(CFTR):c.830G>A (p.Trp277Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
547 ClinVarVariant:10096 NM_000132.3(F8):c.6496C>T (p.Arg2166Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:2833855|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
548 MGI:2686972 Anxty<NZW> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000304 traceable author statement used in manual assertion PMID:12719372 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
549 MGI:2182778 Nfatc3<tm1Glm> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16554754 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
550 ClinVarVariant:56291 NM_001042432.1(CLN3):c.906+5G>A NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
551 ClinVarVariant:597 NM_000277.1(PAH):c.1092_1094delTCT (p.Leu365del) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1975559 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
552 MGI:4336382 Mto1<Gt(G019A03)Wrst> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:25506927 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
553 ClinVarVariant:53581 NM_000492.3(CFTR):c.2859_2890del32 (p.Leu953Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
554 ClinVarVariant:587 NM_000277.1(PAH):c.473G>A (p.Arg158Gln) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:2606484 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
555 ClinVarVariant:2413 NM_032409.2(PINK1):c.938C>T (p.Thr313Met) NCBITaxon:9606 Homo sapiens NCBIGene:100861548 PINK1-AS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:17030667 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
556 ClinVarVariant:56261 NM_000086.2(CLN3):c.233dupG (p.Thr80Asnfs) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
557 ClinVarVariant:120275 NM_000277.1(PAH):c.441+6T>A NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
558 MGI:4452236 Tg(tetO-Csnk1d)#Mfla NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20145109 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
559 ClinVarVariant:120265 NM_000277.1(PAH):c.1240T>C (p.Tyr414His) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
560 ClinVarVariant:53158 NM_000492.3(CFTR):c.-9_14del23 NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
561 ClinVarVariant:7156 NM_000492.3(CFTR):c.1679G>A (p.Arg560Lys) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:1284639|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:2915972 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
562 ClinVarVariant:7166 NM_000492.3:c.3718-2477C>T NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:1384328|PMID:8100293|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
563 ClinVarVariant:10346 F8, EX16DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:8485051|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
564 ClinVarVariant:577 NM_000277.1(PAH):c.1222C>T (p.Arg408Trp) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1682495|PMID:8445621|PMID:1355066|PMID:12655548|PMID:1971147|PMID:2884570|PMID:2884570|PMID:1671770|PMID:1671768|PMID:2323773|PMID:1301202|PMID:18538294|PMID:16879198 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
565 ClinVarVariant:56251 NM_001042432.1(CLN3):c.1198-1G>T NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
566 ClinVarVariant:102639 NM_000277.1(PAH):c.250G>T (p.Asp84Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15633889|PMID:18798839|PMID:10394930|PMID:15503242|PMID:8659548|PMID:10693064 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
567 MGI:2451291 Atp1a2<tm2Ling> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17234593 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
568 ClinVarVariant:18455 SDHB, 15.69-KB DEL, EX1 NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:19389109|PMID:18057081|PMID:16258955 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
569 MGI:1857814 Ntrk2<tm1Bbd> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:10571233 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
570 ClinVarVariant:10306 NM_000132.3(F8):c.6193T>C (p.Trp2065Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:6438527|PMID:1301932|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
571 ClinVarVariant:30556 NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) NCBITaxon:9606 Homo sapiens NCBIGene:7466 WFS1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:11295831|PMID:21538838 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
572 ClinVarVariant:7106 NM_000492.3(CFTR):c.1519_1521delATC (p.Ile507del) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:11280952|PMID:10361400|PMID:8092189|PMID:23974870|PMID:1999342|PMID:7866213|PMID:20171652|PMID:20495477|PMID:2236053|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
573 ClinVarVariant:16152 NM_001018077.1(NR3C1):c.2241T>G (p.Ile747Met) NCBITaxon:9606 Homo sapiens NCBIGene:2908 NR3C1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:12050230 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
574 MGI:2384136 Ucn<tm1Klee> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:12091910 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
575 ClinVarVariant:17974 NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:18376109|PMID:3878661|PMID:19072562|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
576 ClinVarVariant:7176 NM_000492.3(CFTR):c.3712C>T (p.Gln1238Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7683952|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
577 ClinVarVariant:67054 NM_000218.2(KCNQ1):c.1750G>A (p.Gly584Ser) NCBITaxon:9606 Homo sapiens NCBIGene:3784 KCNQ1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:9172914|PMID:9602186|PMID:17222736|PMID:17854255|PMID:22677073|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
578 ClinVarVariant:7186 NM_000492.3(CFTR):c.274G>T (p.Glu92Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:7512993 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
579 MGI:2449464 Ntan1<tm1Avar> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10805755 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
580 ClinVarVariant:208182 NM_000277.1(PAH):c.895T>C (p.Phe299Leu) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
581 ClinVarVariant:10316 NM_000132.3(F8):c.6515C>A (p.Pro2172Gln) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7728145|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
582 ClinVarVariant:1469 NM_000190.3(HMBS):c.739T>C (p.Cys247Arg) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8262523 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
583 MGI:5527440 Lpar5<tm1Zcv> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23039190 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
584 ClinVarVariant:1479 HMBS, 2-BP DEL, 847TG NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9225970 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
585 MGI:1857169 Fmr1<tm1Cgr> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:19016890|PMID:26306459 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
586 MGI:2182618 Hdc<tm1Nagy> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16310870|PMID:16412995 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
587 ClinVarVariant:7196 NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7522211|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
588 ClinVarVariant:159161 NM_133433.3(NIPBL):c.5808+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
589 MGI:4438917 Srr<tm1.2Jtc> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:19065142 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
590 ClinVarVariant:162091 NM_183357.2(ADCY5):c.2176G>A (p.Ala726Thr) NCBITaxon:9606 Homo sapiens NCBIGene:111 ADCY5 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:22782511|PMID:11310626|PMID:24700542|PMID:11310626 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
591 ClinVarVariant:159141 NM_133433.3(NIPBL):c.5328+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
592 MGI:4421144 Atf7<tm1Sis> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19893493 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
593 ClinVarVariant:159191 NM_133433.3(NIPBL):c.64+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18430761|PMID:17640042|PMID:17845236|PMID:19309268|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
594 ClinVarVariant:53508 NM_000492.3(CFTR):c.2537G>A (p.Trp846Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
595 ClinVarVariant:159181 NM_133433.3(NIPBL):c.6242G>T (p.Gly2081Val) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
596 MGI:5550580 Tg(PDGFB-APPInd)F17Plhn NCBITaxon:10090 Mus musculus NCBIGene:351 APP RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:16289866|PMID:16289866 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
597 dbSNP:rs12073837 rs12073837-T NCBITaxon:9606 Homo sapiens NCBIGene:100873924 HLX-AS1 HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21326311|PMID:21099065|PMID:3375880|PMID:21425450|PMID:9491171|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
598 dbSNP:rs82625 rs82625-? NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:7554686|PMID:22388998|PMID:12581195|PMID:9333269|PMID:23510063 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
599 ClinVarVariant:159041 NM_133433.3(NIPBL):c.1885C>T (p.Arg629Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
600 ClinVarVariant:159031 NM_133433.3(NIPBL):c.1183C>T (p.Gln395Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
601 ClinVarVariant:1757 NM_000251.2(MSH2):c.1786_1788delAAT (p.Asn596del) NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8539655|PMID:15857188|PMID:21883167|PMID:17587321|PMID:7874129|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
602 ClinVarVariant:10576 NM_000133.3(F9):c.278A>G (p.Asp93Gly) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3790720|PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2355000|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
603 MGI:2178545 Crhr2<tm1Klee> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10742108 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
604 ClinVarVariant:13917 NM_020975.4(RET):c.1900T>C (p.Cys634Arg) NCBITaxon:9606 Homo sapiens NCBIGene:5979 RET HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8757765|PMID:7907913|PMID:10522989|PMID:6829807|PMID:3078962|PMID:17474956|PMID:14605591|PMID:7849700|PMID:2904651|PMID:19569019|PMID:12000816|PMID:1576030|PMID:12466368 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
605 MGI:5297219 Snap25<tm1Mtaka> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21949876 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
606 ClinVarVariant:10246 NM_000132.3(F8):c.2167G>A (p.Ala723Thr) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7728145|PMID:9302853|PMID:1908096|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
607 ClinVarVariant:10256 NM_000132.3(F8):c.4121_4124delTAGA (p.Ile1374Thrfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:8307558 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
608 ClinVarVariant:88923 NM_000311.3(PRNP):c.631G>C (p.Glu211Gln) NCBITaxon:9606 Homo sapiens NCBIGene:5621 PRNP HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:22965875 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
609 MGI:2448952 Tg(tetO-cre)LC1Bjd NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22084082 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
610 MGI:3849324 Trpc5<tm1.1Clph> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:19450521|PMID:19450521 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
611 ClinVarVariant:10236 NM_000132.3(F8):c.1834C>T (p.Arg612Cys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:1301932|PMID:8281136|PMID:15357786|PMID:7728145|PMID:2378544|PMID:1908096 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
612 ClinVarVariant:10296 NM_000132.3(F8):c.5882G>A (p.Trp1961Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:8307558|PMID:10734657|PMID:17498080|PMID:15357786|PMID:6438527|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
613 ClinVarVariant:10286 NM_000132.3(F8):c.5593G>A (p.Asp1865Asn) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:7728145|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
614 ClinVarVariant:10276 NM_000132.3(F8):c.5398C>G (p.Arg1800Gly) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:7728145|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
615 MGI:3757609 Ophn1<tm1Bill> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:17728457 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
616 MGI:5433221 Fgf13<tm1Xuzh> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22726441 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
617 ClinVarVariant:1359 NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) NCBITaxon:9606 Homo sapiens NCBIGene:7915 ALDH5A1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:14635103 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
618 dbSNP:rs887829 rs887829-A NCBITaxon:9606 Homo sapiens NCBIGene:54600 UGT1A9 HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:22558097|PMID:9491171|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
619 ClinVarVariant:53388 NM_000492.3(CFTR):c.1792_1798delAAAACTA (p.Lys598Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
620 ClinVarVariant:10226 NM_000132.3(F8):c.1660A>G (p.Ser554Gly) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
621 ClinVarVariant:242862 NC_000023.9:g.(?_139330000)_(154580000_?)dup NCBITaxon:9606 Homo sapiens NCBIGene:4204 MECP2 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
622 MGI:4440440 Tg(CAG-VCP*A232E)93Jpat NCBITaxon:10090 Mus musculus NCBIGene:7415 VCP RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:20147319|PMID:20147319 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
623 ClinVarVariant:3554 CLN3, 6-KB DEL NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:7887420|PMID:7553855 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
624 ClinVarVariant:38728 NM_000492.3(CFTR):c.3276C>A (p.Tyr1092Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7504969|PMID:7866213|PMID:20171652|PMID:23974870|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
625 ClinVarVariant:126968 NM_017849.3(TMEM127):c.3G>T (p.Met1Ile) NCBITaxon:9606 Homo sapiens NCBIGene:55654 TMEM127 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
626 ClinVarVariant:53841 NM_000492.3(CFTR):c.3889dupT (p.Ser1297Phefs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
627 ClinVarVariant:10266 NM_000132.3(F8):c.5123G>A (p.Arg1708His) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:8485051|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
628 ClinVarVariant:10206 NM_000132.3(F8):c.1174T>C (p.Ser392Pro) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:8052958|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
629 ClinVarVariant:10216 NM_000132.3(F8):c.1481T>C (p.Ile494Thr) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
630 ClinVarVariant:5286 NM_001077197.1(PDE11A):c.169C>T (p.Arg57Ter) NCBITaxon:9606 Homo sapiens NCBIGene:50940 PDE11A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16767104 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
631 MGI:5752777 Disc1<m1H> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:26728762 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
632 ClinVarVariant:1459 HMBS, 1-BP DEL, 174C NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8270254 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
633 ClinVarVariant:1449 NM_000190.3(HMBS):c.446G>A (p.Arg149Gln) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1714233 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
634 ClinVarVariant:53891 NM_000492.3(CFTR):c.4111G>T (p.Glu1371Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7521710|PMID:1376017|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:8956039|PMID:12796866|PMID:16132229|PMID:10439967 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
635 ClinVarVariant:10566 F9, GLU7ASP NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
636 MGI:4410556 Tg(tetO-ATXN3)2904Olri NCBITaxon:10090 Mus musculus NCBIGene:4287 ATXN3 MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006|ECO:0000006 experimental evidence|experimental evidence|experimental evidence PMID:19666958|PMID:19666958|PMID:19666958 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
637 ClinVarVariant:221281 NM_000520.5(HEXA):c.964G>T (p.Asp322Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16301864|PMID:8355954|PMID:696935|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
638 ClinVarVariant:10616 NM_000133.3(F9):c.1180A>G (p.Met394Val) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
639 ClinVarVariant:10606 NM_000133.3(F9):c.1009G>C (p.Ala337Pro) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2564457|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
640 MGI:5299329 Tdo2<tm1Tnak> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19323847 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
641 MGI:5760026 Ddr1<tm1Lex> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence MGI:2655403 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
642 ClinVarVariant:7206 NM_000492.3(CFTR):c.805_806delAT (p.Ile269Profs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8064813|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
643 ClinVarVariant:7216 NM_000492.3(CFTR):c.3746G>A (p.Gly1249Glu) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:7520022 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
644 MGI:4950685 Dync1li1<m1Emcf> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21471385 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
645 ClinVarVariant:7226 NM_000492.3(CFTR):c.-102A= NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:10204861|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
646 MGI:3573910 Aaj2<A/J> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000304 traceable author statement used in manual assertion PMID:15371360 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
647 ClinVarVariant:89352 NM_000179.2(MSH6):c.3202C>T (p.Arg1068Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2956 MSH6 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15483016|PMID:8539655|PMID:15857188|PMID:21883167|PMID:20028993|PMID:18301448|PMID:17587321|PMID:20487569|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
648 ClinVarVariant:7236 NM_000492.3(CFTR):c.860dupA (p.Asn287Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:12833420 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
649 ClinVarVariant:211642 NM_015384.4(NIPBL):c.4893dupA (p.Gly1632Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
650 ClinVarVariant:35890 NM_000492.3(CFTR):c.825C>G (p.Tyr275Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
651 ClinVarVariant:211632 NM_015384.4(NIPBL):c.3264delC (p.Ser1089Valfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
652 ClinVarVariant:35880 NM_000492.3(CFTR):c.3997G>T (p.Gly1333Trp) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
653 ClinVarVariant:53708 NM_000492.3(CFTR):c.3293G>A (p.Trp1098Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
654 ClinVarVariant:10626 F9, EX4INS NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:2831715|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
655 MGI:5495816 Ddc<tm1.1Nwlh> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23275025 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
656 MGI:5554947 Gpr83<tm1.2Lex> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23088626 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
657 ClinVarVariant:53568 NM_000492.3(CFTR):c.2780T>C (p.Leu927Pro) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
658 ClinVarVariant:53688 NM_000492.3(CFTR):c.3222T>A (p.Phe1074Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8702904|PMID:20976528|PMID:17407489|PMID:9439669|PMID:10361400|PMID:23017188|PMID:20416310|PMID:16801189|PMID:15126740|PMID:7866213|PMID:20171652|PMID:10875853|PMID:20495477|PMID:23891399|PMID:12796866|PMID:17003641|PMID:17331079 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
659 MGI:3612429 Tg(Gria2*586N)238.2Rsp NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:15827116|PMID:15827116 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
660 ClinVarVariant:3912 NM_000520.5(HEXA):c.533G>T (p.Arg178Leu) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:1833974|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
661 MGI:1857939 Xpa<tm1Hvs> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:22174697 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
662 MGI:2177174 Tg(Eno2-cre)39Jme NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:16675393 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
663 ClinVarVariant:3932 HEXA, 2-BP DEL, TT, CODON 142 NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:8490625|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
664 MGI:3524965 Tg(Wnt1-GAL4)11Rth NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:23134367 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
665 ClinVarVariant:211662 NM_015384.4(NIPBL):c.7841_7842dupTA (p.Val2615Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
666 ClinVarVariant:10586 F9, IVS7AS, G-A NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
667 ClinVarVariant:10596 NM_000133.3(F9):c.710A>T (p.Gln237Leu) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
668 ClinVarVariant:3942 NM_000520.5(HEXA):c.1351C>G (p.Leu451Val) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:14648242|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
669 MGI:5437479 Shank2<tm1Mgle> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22699620 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
670 MGI:3043293 Mapt<tm1(Mecp2)Jae> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22378884 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
671 ClinVarVariant:217885 NM_000277.1(PAH):c.353-507G>T NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:2574153|PMID:9429153 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
672 MGI:3575505 Ehmt1<tm1Yshk> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19896504 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
673 dbSNP:rs11968814 rs11968814-A NCBITaxon:9606 Homo sapiens NCBIGene:101928394 uncharacterized LOC101928394 HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21326311|PMID:21099065|PMID:3375880|PMID:21425450|PMID:9491171|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
674 ClinVarVariant:12781 NM_003000.2(SDHB):c.725G>A (p.Arg242His) NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:6829807|PMID:14605591|PMID:12000816|PMID:21173220|PMID:12213855|PMID:12213855|PMID:17474956|PMID:19569019|PMID:12000816|PMID:1576030|PMID:21173220 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
675 ClinVarVariant:35870 NM_000492.3(CFTR):c.355A>G (p.Ile119Val) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
676 ClinVarVariant:211622 NM_015384.4(NIPBL):c.1448_1449delAAinsCTCCCTT (p.Glu483Alafs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
677 MGI:5752902 Nr1d2<tm1.1Pbrc> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:25536025 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
678 MGI:1857443 L1cam<tm1Sor> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:9580664 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
679 ClinVarVariant:56268 NM_001042432.1(CLN3):c.400T>C (p.Cys134Arg) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
680 MGI:3580566 Nsila4<C57BL/6J> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000304 traceable author statement used in manual assertion PMID:15904718 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
681 ClinVarVariant:56278 NM_001042432.1(CLN3):c.533+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
682 ClinVarVariant:4685 NM_033305.2(VPS13A):c.622C>T (p.Arg208Ter) NCBITaxon:9606 Homo sapiens NCBIGene:23230 VPS13A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:12404112|PMID:11381253 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
683 ClinVarVariant:159241 NM_133433.3(NIPBL):c.8165_8183del19 (p.Pro2722Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
684 MGI:2447591 Tg(APP)8.9Btla NCBITaxon:10090 Mus musculus NCBIGene:351 APP RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:15016076|PMID:15016076 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
685 ClinVarVariant:56288 NM_001042432.1(CLN3):c.631C>T (p.Gln211Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
686 ClinVarVariant:12641 NM_000458.3(HNF1B):c.1395C>G (p.Ser465Arg) NCBITaxon:9606 Homo sapiens NCBIGene:6928 HNF1B HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2209327|PMID:9428966|PMID:12161522|PMID:22188726|PMID:22397240|PMID:12429356 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
687 ClinVarVariant:3892 NM_000520.5(HEXA):c.1444G>A (p.Glu482Lys) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18490185|PMID:1301190|PMID:696935|PMID:20597919|PMID:16301864|PMID:6959123|PMID:8355954|PMID:2970528|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
688 ClinVarVariant:91317 NM_000535.6(PMS2):c.1831dupA (p.Ile611Asnfs) NCBITaxon:9606 Homo sapiens NCBIGene:5395 PMS2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8539655|PMID:18602922|PMID:15857188|PMID:21883167|PMID:24362816|PMID:17587321|PMID:15887099|PMID:22773173|PMID:20205264 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
689 ClinVarVariant:159251 NM_133433.3(NIPBL):c.892C>T (p.Gln298Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
690 ClinVarVariant:159211 NM_133433.3(NIPBL):c.6893G>A (p.Arg2298His) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
691 ClinVarVariant:159221 NM_015384.4(NIPBL):c.7106delA (p.Gln2369Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
692 ClinVarVariant:159201 NM_133433.3(NIPBL):c.6590-2A>C NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
693 MGI:3580545 Nsila5 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059 experimental phenotypic evidence PMID:15904718 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
694 ClinVarVariant:56248 NM_001042432.1(CLN3):c.1056G>C (p.Gln352His) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
695 ClinVarVariant:56258 NM_001042432.1(CLN3):c.214C>T (p.Gln72Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
696 ClinVarVariant:53213 NM_000492.3(CFTR):c.1203G>A (p.Trp401Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
697 MGI:3822325 Slc2a3<Gt(XG611)Byg> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18780771 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
698 MGI:2159003 Nos3<tm1Gdk> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10964974 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
699 MGI:5554931 Tppp<tm1.1(KOMP)Vlcg> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000015|ECO:0000006|ECO:0000015 mutant phenotype evidence|experimental evidence|mutant phenotype evidence MGI:5576271 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/impc.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
700 ClinVarVariant:161157 NM_152296.4(ATP1A3):c.1250T>C (p.Leu417Pro) NCBITaxon:9606 Homo sapiens NCBIGene:478 ATP1A3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
701 ClinVarVariant:53203 NM_000492.3(CFTR):c.1152_1153dupAT (p.Asn386Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
702 ClinVarVariant:102744 NM_000277.1(PAH):c.58C>T (p.Gln20Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:22841515|PMID:9284280|PMID:23764561|PMID:9391881|PMID:9634518|PMID:23357515|PMID:16879198|PMID:23430547 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
703 ClinVarVariant:197210 NM_003000.2(SDHB):c.343C>T (p.Arg115Ter) NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:24523625|PMID:24523625|PMID:6829807|PMID:16405730|PMID:17474956|PMID:16405730|PMID:14605591|PMID:19569019|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
704 ClinVarVariant:96355 NM_133433.3(NIPBL):c.8377C>T (p.Arg2793Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18430761|PMID:17640042|PMID:17845236|PMID:19309268|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
705 ClinVarVariant:178713 NM_000492.3(CFTR):c.1210-11T>G NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17314234|PMID:16020494|PMID:14685937|PMID:10361400|PMID:7506096|PMID:7739684|PMID:11069835|PMID:7866213|PMID:20171652|PMID:20495477|PMID:7684646|PMID:16263954|PMID:12796866|PMID:9435322|PMID:1381723 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
706 ClinVarVariant:2143 NIPBL, 1-BP INS, 1546G NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18430761|PMID:17640042|PMID:17845236|PMID:19309268|PMID:19330433|PMID:15146186 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
707 ClinVarVariant:159098 NM_133433.3(NIPBL):c.3855+5G>A NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
708 MGI:3580571 Nsila7<A/J> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000304 traceable author statement used in manual assertion PMID:15904718 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
709 ClinVarVariant:53233 NM_000492.3(CFTR):c.1340delA (p.Lys447Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
710 ClinVarVariant:219153 NM_003000.2(SDHB):c.251A>C (p.Asp84Ala) NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
711 ClinVarVariant:31172 NM_145239.2(PRRT2):c.950G>A (p.Ser317Asn) NCBITaxon:9606 Homo sapiens NCBIGene:112476 PRRT2 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:22243967 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
712 ClinVarVariant:159088 NM_133433.3(NIPBL):c.3575-3C>G NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
713 MGI:5751466 Cyfip1<tm1Yhj> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:26474913 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
714 ClinVarVariant:159078 NM_133433.3(NIPBL):c.3322A>T (p.Lys1108Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
715 ClinVarVariant:67444 NM_172056.2(KCNH2):c.*484+1704C>T NCBITaxon:9606 Homo sapiens NCBIGene:3757 KCNH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:9172914|PMID:18675227|PMID:9602186|PMID:17854255|PMID:17210839|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
716 ClinVarVariant:54064 NM_000492.3(CFTR):c.828C>A (p.Cys276Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9003508|PMID:7541510|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
717 ClinVarVariant:159058 NM_133433.3(NIPBL):c.2494C>T (p.Arg832Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
718 ClinVarVariant:2140 NM_015384.4(NIPBL):c.7289A>G (p.Tyr2430Cys) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18430761|PMID:17640042|PMID:17845236|PMID:19309268|PMID:19330433|PMID:15146185 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
719 ClinVarVariant:16156 NM_001018077.1(NR3C1):c.1430G>A (p.Arg477His) NCBITaxon:9606 Homo sapiens NCBIGene:2908 NR3C1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16449337|PMID:11589680 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
720 ClinVarVariant:159195 NM_133433.3(NIPBL):c.6478G>T (p.Asp2160Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
721 MGI:2387410 Htr1a<tm1Tct> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:9844013|PMID:9844013 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
722 MGI:5529361 Mecp2<tm4.1Bird> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:26647311 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
723 ClinVarVariant:4689 VPS13A, 37-KB DEL NCBITaxon:9606 Homo sapiens NCBIGene:23230 VPS13A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15918062 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
724 ClinVarVariant:159235 NM_133433.3(NIPBL):c.771+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18430761|PMID:17640042|PMID:17845236|PMID:19309268|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
725 ClinVarVariant:159185 NM_133433.3(NIPBL):c.6316G>C (p.Val2106Leu) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
726 dbSNP:rs2445284 rs2445284-G NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:23406172|PMID:9491171|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
727 ClinVarVariant:159245 NM_133433.3(NIPBL):c.8300_8301delAA (p.Lys2767Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
728 MGI:2182943 Efna2<tm1Jgf> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:25281279 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
729 ClinVarVariant:126970 NM_017849.3(TMEM127):c.418T>C (p.Cys140Arg) NCBITaxon:9606 Homo sapiens NCBIGene:55654 TMEM127 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
730 MGI:1934210 Plaur<tm1Mlg> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:12533622 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
731 ClinVarVariant:159225 NM_133433.3(NIPBL):c.7264-6T>G NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
732 MGI:2182005 Pten<tm2Mak> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16675393 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
733 MGI:4417910 Tg(Thy1-PSEN1*M146V,-APP*Swe)10Arte NCBITaxon:10090 Mus musculus NCBIGene:351 APP RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:19936202|PMID:19936202 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
734 ClinVarVariant:38730 NM_000492.3(CFTR):c.178G>T (p.Glu60Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
735 MGI:4415497 Jakmip1<tm1(KOMP)Vlcg> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:26627310 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
736 dbSNP:rs11986414 rs11986414-A NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:7554686|PMID:12581195|PMID:22388998|PMID:9333269|PMID:23510063 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
737 ClinVarVariant:6892 NM_003002.3(SDHD):c.106C>T (p.Gln36Ter) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:10657297 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
738 ClinVarVariant:219360 NM_001127701.1(SERPINA1):c.1177C>A (p.Pro393Thr) NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:18376109|PMID:3878661|PMID:19072562|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
739 ClinVarVariant:53440 NM_000492.3(CFTR):c.2125C>T (p.Arg709Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:23974870|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
740 ClinVarVariant:6912 NM_003002.3(SDHD):c.337_340delGACT (p.Asp113Metfs) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:12111639 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
741 ClinVarVariant:1471 NM_000190.3(HMBS):c.748G>A (p.Glu250Lys) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8270254 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
742 ClinVarVariant:16159 NM_000160.4(GCGR):c.118G>A (p.Gly40Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2642 GCGR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2209327|PMID:7773293|PMID:9428966|PMID:22188726|PMID:8563746|PMID:22397240|PMID:12429356 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
743 ClinVarVariant:102438 TTC19, TRP186TER NCBITaxon:9606 Homo sapiens NCBIGene:54902 TTC19 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:24368687 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
744 ClinVarVariant:183388 NC_000023.9:g.146703942_146820448del NCBITaxon:9606 Homo sapiens NCBIGene:2332 FMR1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18297385|PMID:16176388|PMID:14994287|PMID:19429055|PMID:7530551|PMID:10972251 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
745 ClinVarVariant:183422 NM_017831.3(RNF125):c.520C>T (p.Arg174Cys) NCBITaxon:9606 Homo sapiens NCBIGene:54941 RNF125 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:25196541 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
746 ClinVarVariant:53480 NM_000492.3(CFTR):c.2353C>T (p.Arg785Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
747 ClinVarVariant:3906 NM_000520.5(HEXA):c.1510C>T (p.Arg504Cys) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19091716|PMID:14577003|PMID:15714079|PMID:22441121|PMID:18490185|PMID:696935|PMID:20597919|PMID:16301864|PMID:6236221|PMID:16088929|PMID:2934978|PMID:8355954|PMID:1837283|PMID:1827944|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
748 MGI:3573903 Aaj3 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059 experimental phenotypic evidence PMID:15371360 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
749 ClinVarVariant:1461 HMBS, IVS5DS, G-A, +1 NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8270254 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
750 ClinVarVariant:180190 NM_015384.4(NIPBL):c.2147_2148delAA (p.Lys717Glufs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
751 ClinVarVariant:6902 NM_003002.3(SDHD):c.443delG (p.Gly148Alafs) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:11343322 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
752 ClinVarVariant:1451 HMBS, 1-BP DEL, 900T NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1714233 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
753 MGI:5615468 Trpc4<tm1.1Clph> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:24599464 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
754 ClinVarVariant:6895 NM_003002.3(SDHD):c.34G>A (p.Gly12Ser) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:18678321|PMID:6829807|PMID:11156372|PMID:14605591|PMID:11526495|PMID:12386824|PMID:12111639|PMID:12386824|PMID:10657297|PMID:10657297|PMID:12111639|PMID:17474956|PMID:12007193|PMID:12007193|PMID:11156372|PMID:19569019|PMID:11526495|PMID:1576030|PMID:18678321 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
755 ClinVarVariant:10231 NM_000132.3(F8):c.1729T>C (p.Ser577Pro) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1349567|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
756 ClinVarVariant:38733 NM_000492.3(CFTR):c.1645A>C (p.Ser549Arg) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10204861|PMID:10480369|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:10652351|PMID:12796866|PMID:1903761|PMID:2236053|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
757 ClinVarVariant:10241 NM_000132.3(F8):c.1965C>G (p.Tyr655Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:6438527|PMID:2378544|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
758 MGI:2653030 Htr1b<tm1Rhn> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:9603521|PMID:10996411|PMID:8091214 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
759 ClinVarVariant:10251 NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:1924291|PMID:15357786|PMID:8449505|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
760 ClinVarVariant:13982 NM_001626.5(AKT2):c.821G>A (p.Arg274His) NCBITaxon:9606 Homo sapiens NCBIGene:208 AKT2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2209327|PMID:9428966|PMID:22188726|PMID:22397240|PMID:15166380|PMID:12429356|PMID:19164855 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
761 ClinVarVariant:10211 NM_000132.3(F8):c.1293delG (p.Asn432Thrfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:8307558|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
762 ClinVarVariant:219293 NM_000535.5:c.(1144+1_1145-1)_(2174+1_2715-1)dup NCBITaxon:9606 Homo sapiens NCBIGene:5395 PMS2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
763 ClinVarVariant:191372 NM_001282684.1(KCTD17):c.434G>A (p.Arg145His) NCBITaxon:9606 Homo sapiens NCBIGene:79734 KCTD17 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:25983243 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
764 ClinVarVariant:10221 NM_000132.3(F8):c.1630G>A (p.Asp544Asn) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7728145|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
765 MGI:3763533 Trhr<tm1Hzg> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17666589 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
766 ClinVarVariant:10261 NM_000132.3(F8):c.4379delA (p.Asn1460Ilefs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:1924291|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:8281136 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
767 MGI:2180136 Adora1<tm1Bbf> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11470917 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
768 ClinVarVariant:159208 NM_133433.3(NIPBL):c.6707A>T (p.Asn2236Ile) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
769 ClinVarVariant:10271 NM_000132.3(F8):c.5323T>G (p.Leu1775Val) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:7728145|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
770 ClinVarVariant:10281 NM_000132.3(F8):c.5530C>T (p.Pro1844Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:1924291|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
771 ClinVarVariant:3889 NM_000520.5(HEXA):c.1274_1277dupTATC (p.Tyr427Ilefs) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20597919|PMID:2848800|PMID:2294750|PMID:8355954|PMID:2739956|PMID:8352284|PMID:1830584|PMID:696935|PMID:16301864|PMID:8488832|PMID:2848800|PMID:14727180|PMID:1307230 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
772 ClinVarVariant:100719 NM_000086.2(CLN3):c.371_372insT (p.Ser125Glnfs) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
773 ClinVarVariant:10291 NM_000132.3(F8):c.5677C>T (p.Gln1893Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:8281136|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
774 ClinVarVariant:56273 NM_001042432.1(CLN3):c.472G>C (p.Ala158Pro) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
775 ClinVarVariant:56263 NM_001042432.1(CLN3):c.302T>C (p.Leu101Pro) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
776 ClinVarVariant:56253 NM_001042432.1(CLN3):c.125+5G>A NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
777 ClinVarVariant:16090 NM_000340.1(SLC2A2):c.589G>A (p.Val197Ile) NCBITaxon:9606 Homo sapiens NCBIGene:6514 SLC2A2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2209327|PMID:9428966|PMID:11810292|PMID:22188726|PMID:8027028|PMID:22397240|PMID:12429356 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
778 MGI:2136456 Penk-rs<tm1Pig> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:8849726 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
779 MGI:5702868 Mecp2<tm6.1Bird> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:26647311 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
780 ClinVarVariant:11568 NM_002578.4(PAK3):c.1255C>T (p.Arg419Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5063 PAK3 HP:0000739 Anxiety ECO:0000269 experimental evidence used in manual assertion PMID:8826460|PMID:9731525 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
781 ClinVarVariant:219290 NM_000249.3(MLH1):c.1676T>C (p.Leu559Pro) NCBITaxon:9606 Homo sapiens NCBIGene:4292 MLH1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
782 ClinVarVariant:66102 NM_000492.3(CFTR):c.2453delT (p.Leu818Trpfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
783 ClinVarVariant:12909 NM_152296.4(ATP1A3):c.1838C>T (p.Thr613Met) NCBITaxon:9606 Homo sapiens NCBIGene:478 ATP1A3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:22534615|PMID:17516473|PMID:17282997|PMID:15390049|PMID:15260953|PMID:11061257|PMID:12112218|PMID:16632466|PMID:15260953|PMID:17595045|PMID:17282997 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
784 ClinVarVariant:6909 NM_003002.3(SDHD):c.149A>G (p.His50Arg) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18678321|PMID:6829807|PMID:12007193|PMID:17474956|PMID:12386824|PMID:14605591|PMID:19569019|PMID:12111639|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
785 ClinVarVariant:159090 NM_133433.3(NIPBL):c.358+5G>C NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
786 MGI:1857234 Oxt<tm1Wsy> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:12746288 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
787 ClinVarVariant:90903 NM_000251.2(MSH2):c.2131C>T (p.Arg711Ter) NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
788 ClinVarVariant:12912 NM_152296.4(ATP1A3):c.2273T>G (p.Ile758Ser) NCBITaxon:9606 Homo sapiens NCBIGene:478 ATP1A3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15260953 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
789 MGI:3604527 Cacna1c<tm1Dgen> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence MGI:3604450 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
790 MGI:3844445 Tg(Thy1-Nlgn2)6Hnes NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:18550748|PMID:18550748 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
791 ClinVarVariant:1468 HMBS, 2-BP DEL, 730CT NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8262523|PMID:8270254 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
792 ClinVarVariant:1458 NM_000190.3(HMBS):c.163G>T (p.Ala55Ser) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8270254 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
793 ClinVarVariant:53427 NM_000492.3(CFTR):c.2017G>T (p.Gly673Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
794 ClinVarVariant:16151 NM_001018077.1(NR3C1):c.1676T>A (p.Ile559Asn) NCBITaxon:9606 Homo sapiens NCBIGene:2908 NR3C1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:11701741|PMID:8445027 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
795 ClinVarVariant:7067 NM_007262.4(PARK7):c.192G>C (p.Glu64Asp) NCBITaxon:9606 Homo sapiens NCBIGene:11315 PARK7 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15365989 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
796 ClinVarVariant:53417 NM_000492.3(CFTR):c.1973_1985delGAAATTCAATCCTinsAGAAA (p.Arg658Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
797 ClinVarVariant:1478 NM_000190.3(HMBS):c.647G>A (p.Gly216Asp) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9225970 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
798 ClinVarVariant:1448 NM_000190.3(HMBS):c.463C>T (p.Gln155Ter) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:2227955 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
799 ClinVarVariant:159070 NM_015384.4(NIPBL):c.3060_3063delAGAG (p.Glu1021Thrfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
800 MGI:3665437 Fabp7<tm1Owad> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16882015 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
801 ClinVarVariant:126967 NM_017849.3(TMEM127):c.280C>T (p.Arg94Trp) NCBITaxon:9606 Homo sapiens NCBIGene:55654 TMEM127 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
802 MGI:3057129 Tg(MAPT)8cPdav NCBITaxon:10090 Mus musculus NCBIGene:4137 MAPT MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24278307 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
803 ClinVarVariant:10285 F8, IVS16DS, G-A, -1 NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544|PMID:1924291 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
804 ClinVarVariant:10295 NM_000132.3(F8):c.5879G>T (p.Arg1960Leu) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:1301194|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
805 MGI:4819832 Tg(tetO-MAPT*P301L)#Kha NCBITaxon:10090 Mus musculus NCBIGene:4137 MAPT HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:24503275 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
806 ClinVarVariant:159040 NM_015384.4(NIPBL):c.1753delA (p.Ile585Leufs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
807 dbSNP:rs1442407 rs1442407-T NCBITaxon:9606 Homo sapiens NCBIGene:64478 CSMD1 HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:24058526|PMID:9491171|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
808 ClinVarVariant:10255 F8, 2-BP, INS, FS NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:8307558|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
809 ClinVarVariant:10245 NM_000132.3(F8):c.2149C>T (p.Arg717Trp) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1301932|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
810 ClinVarVariant:10265 F8, GLU161TER NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:1523102 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
811 MGI:3653429 Htr2a<tm1Grch> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:16873667|PMID:16873667 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
812 ClinVarVariant:10275 NM_000132.3(F8):c.5398C>T (p.Arg1800Cys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:1301960|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
813 MGI:2653138 Tlr3<tm1Flv> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20713712 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
814 dbSNP:rs10017284 rs10017284-G NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:9491171|PMID:17938043|PMID:21326311 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
815 MGI:1857159 Drd3<tm1Dac> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:10884517 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
816 ClinVarVariant:159050 NM_133433.3(NIPBL):c.2260C>T (p.Arg754Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
817 MGI:2429688 Chl1<tm1Mtg> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:12391163 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
818 ClinVarVariant:218355 NM_183357.2(ADCY5):c.2088+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:111 ADCY5 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:25545163 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
819 ClinVarVariant:178847 NM_000492.3(CFTR):c.1210-7_1210-6delTT NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
820 MGI:3692441 Grin1<tm1Yql> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:19915563 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
821 ClinVarVariant:3553 CLN3, 3-KB DEL, NT928 NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:7553855 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
822 MGI:3580543 Nsila3 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059 experimental phenotypic evidence PMID:15904718 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
823 ClinVarVariant:6899 NM_003002.3(SDHD):c.337_338insT (p.Asp113Valfs) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:11343322 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
824 ClinVarVariant:10235 NM_000132.3(F8):c.1814A>C (p.Tyr605Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:8307558|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
825 MGI:2669970 Sept5<tm1Wtr> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19240081 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
826 ClinVarVariant:102818 NM_000277.1(PAH):c.740G>T (p.Gly247Val) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:21811977|PMID:9949232|PMID:7844887|PMID:1639423|PMID:19147918|PMID:23932990|PMID:16256386|PMID:10693064|PMID:24661517|PMID:17924342|PMID:8682503|PMID:9575658|PMID:21307867 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
827 MGI:1929607 Erbb4<tm1Grl> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22378872 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
828 MGI:2384087 Fshr<tm1Saco> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:14502087 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
829 ClinVarVariant:10205 NM_000132.3(F8):c.1175C>T (p.Ser392Leu) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:8497853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
830 ClinVarVariant:13936 NM_020975.4(RET):c.2372A>T (p.Tyr791Phe) NCBITaxon:9606 Homo sapiens NCBIGene:5979 RET HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9506724|PMID:6829807|PMID:17474956|PMID:12000816|PMID:14605591|PMID:19569019|PMID:16118333|PMID:1576030|PMID:15870131 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
831 ClinVarVariant:188516 NM_000251.2(MSH2):c.1984C>T (p.Gln662Ter) NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
832 MGI:2178057 Gria1<tm1Rsp> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20699120 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
833 ClinVarVariant:10215 NM_000132.3(F8):c.1418A>G (p.Tyr473Cys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1924291|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
834 MGI:2179062 Tg(Camk2a-tTA)1Mmay NCBITaxon:10090 Mus musculus MGI:88256 Camk2a HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:24503275 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
835 ClinVarVariant:10225 NM_000132.3(F8):c.1649G>A (p.Arg550His) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
836 ClinVarVariant:242861 NC_000023.9:g.(?_152730000)_(153020000_?)dup NCBITaxon:9606 Homo sapiens NCBIGene:4204 MECP2 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
837 ClinVarVariant:53750 NM_000492.3(CFTR):c.3468G>A (p.Leu1156=) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10923036|PMID:10361400|PMID:9067754|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
838 ClinVarVariant:2237 NM_000551.3(VHL):c.277G>A (p.Gly93Ser) NCBITaxon:9606 Homo sapiens NCBIGene:7428 VHL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:6829807|PMID:17474956|PMID:14605591|PMID:19569019|PMID:12000816|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
839 ClinVarVariant:53317 NM_000492.3(CFTR):c.165-3C>T NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7518409|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:11788090|PMID:12796866|PMID:19833837 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
840 MGI:5570192 Ckap5<tm1.1Eba> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23936366 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
841 ClinVarVariant:10135 F8, EX5DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:2104741 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
842 ClinVarVariant:10155 F8, 89-BP DEL, FS NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
843 ClinVarVariant:10145 NM_000132.3(F8):c.1336C>T (p.Arg446Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:2121641 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
844 ClinVarVariant:10115 NM_000132.3(F8):c.5096A>T (p.Tyr1699Phe) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:2105906|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
845 ClinVarVariant:10125 NM_000132.3(F8):c.1171C>T (p.Arg391Cys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:2506948|PMID:15357786|PMID:2378544|PMID:2109644 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
846 ClinVarVariant:14707 NM_000208.3(INSR):c.3034G>A (p.Val1012Met) NCBITaxon:9606 Homo sapiens NCBIGene:3643 INSR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2209327|PMID:9428966|PMID:22188726|PMID:22397240|PMID:8432414|PMID:8900242|PMID:12429356|PMID:10084586 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
847 ClinVarVariant:2227 NM_000551.3(VHL):c.188T>C (p.Leu63Pro) NCBITaxon:9606 Homo sapiens NCBIGene:7428 VHL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:6829807|PMID:9663592|PMID:17474956|PMID:14605591|PMID:19569019|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
848 MGI:3573908 Aaj1<A/J> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000304 traceable author statement used in manual assertion PMID:15371360 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
849 ClinVarVariant:1358 NM_170740.1(ALDH5A1):c.1273C>T (p.Arg425Ter) NCBITaxon:9606 Homo sapiens NCBIGene:7915 ALDH5A1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:14635103 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
850 ClinVarVariant:10185 NM_000132.3(F8):c.797G>A (p.Gly266Glu) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544|PMID:23926300 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
851 ClinVarVariant:10195 NM_000132.3(F8):c.923C>T (p.Ser308Leu) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:8449505|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
852 ClinVarVariant:10165 NM_000132.3(F8):c.296T>A (p.Val99Asp) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:7728145|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
853 ClinVarVariant:10175 NM_000132.3(F8):c.491G>T (p.Gly164Val) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:1301932 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
854 ClinVarVariant:2147 NM_015384.4(NIPBL):c.3737C>G (p.Ala1246Gly) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18430761|PMID:15318302|PMID:17640042|PMID:17845236|PMID:19309268|PMID:11391654|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
855 ClinVarVariant:10105 F8, EX26DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:2833855|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2987704|PMID:2378544|PMID:2493803 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
856 MGI:4459459 Slitrk5<tm2Vlcg> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20418887 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
857 ClinVarVariant:219157 NM_000551.3(VHL):c.479A>T (p.Glu160Val) NCBITaxon:9606 Homo sapiens NCBIGene:7428 VHL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
858 ClinVarVariant:102788 NM_000277.1(PAH):c.694C>T (p.Gln232Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:24510552|PMID:10408782|PMID:23932990|PMID:16256386 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
859 MGI:3691577 Slc6a4<tm1(cre)Xz> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21814181 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
860 ClinVarVariant:606 PAH, SER349ARG NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:2063869 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
861 ClinVarVariant:10085 NM_000132.3(F8):c.6976C>T (p.Arg2326Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:2987704|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
862 ClinVarVariant:54018 NM_000492.3(CFTR):c.595C>T (p.His199Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
863 ClinVarVariant:53600 NM_000492.3(CFTR):c.292C>T (p.Gln98Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12357328|PMID:23974870|PMID:10361400|PMID:23974870|PMID:12007216|PMID:7866213|PMID:20171652|PMID:20495477|PMID:9482579|PMID:12796866|PMID:15365999 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
864 ClinVarVariant:626 NM_000277.1(PAH):c.1076C>G (p.Ser359Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8097261 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
865 MGI:3765961 Eno2<tm1(DTA)Hsak> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23487260 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
866 MGI:2158808 Mas1<tm1Bdr> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:9565612 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
867 ClinVarVariant:120274 NM_000277.1(PAH):c.350delC (p.Thr117Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
868 ClinVarVariant:53167 NM_000492.3(CFTR):c.1021T>C (p.Ser341Pro) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:23974870|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
869 ClinVarVariant:41776 NM_003001.3(SDHC):c.43C>T (p.Arg15Ter) NCBITaxon:9606 Homo sapiens NCBIGene:6391 SDHC HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
870 ClinVarVariant:120284 NM_000277.1(PAH):c.682G>A (p.Glu228Lys) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
871 MGI:2387415 Hrh3<tm1Twl> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15078574 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
872 ClinVarVariant:10095 F8, EX1DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:2567219|PMID:2125022|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1908096|PMID:7728145|PMID:2378544|PMID:2833855|PMID:8485051 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
873 ClinVarVariant:120294 NM_000277.1(PAH):c.913-3C>G NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
874 dbSNP:rs12188164 rs12188164-A NCBITaxon:9606 Homo sapiens NCBIGene:57491 AHRR HP:0000740 Episodic paroxysmal anxiety ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:10361400|PMID:21602797|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
875 ClinVarVariant:53197 NM_000492.3(CFTR):c.1128dupA (p.Gln378Alafs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
876 ClinVarVariant:636 NM_000277.1(PAH):c.194T>C (p.Ile65Thr) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1301201 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
877 ClinVarVariant:11838 MECP2, DUP NCBITaxon:9606 Homo sapiens NCBIGene:4204 MECP2 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15689435|PMID:17172942|PMID:20503343|PMID:16080119 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
878 dbSNP:rs7045640 rs7045640-A NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:24058526|PMID:21099065|PMID:3375880|PMID:21425450|PMID:9491171|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
879 ClinVarVariant:53660 NM_000492.3(CFTR):c.3139_3139+1delGG NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15300780|PMID:10361400|PMID:11668613|PMID:7866213|PMID:20171652|PMID:20495477|PMID:15858154|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
880 ClinVarVariant:40200 NM_000492.3(CFTR):c.1079C>A (p.Thr360Lys) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7679367|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
881 MGI:2178616 Crhr2<tm1Jsp> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:10742109|PMID:10742109 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
882 ClinVarVariant:230243 NM_003000.2(SDHB):c.640C>T (p.Gln214Ter) NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
883 ClinVarVariant:159172 NM_133433.3(NIPBL):c.610+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
884 MGI:3580563 Nsila3<A/J> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000304 traceable author statement used in manual assertion PMID:15904718 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
885 MGI:2388020 Penk<tm1Dwp> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11172058 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
886 ClinVarVariant:53429 NM_000492.3(CFTR):c.2036G>A (p.Trp679Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20059485|PMID:10361400|PMID:22490504|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:22504961 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
887 ClinVarVariant:159062 NM_015384.4(NIPBL):c.2711delG (p.Arg904Asnfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
888 ClinVarVariant:180189 NM_015384.4(NIPBL):c.5212dupT (p.Ser1739Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
889 MGI:2386761 Esr2<tm1Mma> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11593044 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
890 ClinVarVariant:159042 NM_015384.4(NIPBL):c.201_212delTAGCCTCAACCA (p.His67_Asn70del) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
891 ClinVarVariant:66104 NM_000492.3(CFTR):c.3964-78_4242+577del NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
892 ClinVarVariant:159082 NM_133433.3(NIPBL):c.3440G>A (p.Arg1147Gln) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
893 MGI:4819832 Tg(tetO-MAPT*P301L)#Kha NCBITaxon:10090 Mus musculus NCBIGene:4137 MAPT MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:24503275 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
894 ClinVarVariant:7137 NM_000492.3(CFTR):c.3484C>T (p.Arg1162Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:1381442|PMID:2045102 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
895 ClinVarVariant:7127 NM_000492.3(CFTR):c.2538G>A (p.Trp846Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:2210768|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
896 ClinVarVariant:10347 F8, EX19-21DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2125022|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
897 ClinVarVariant:10337 F8, EX3-5DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:2125022 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
898 ClinVarVariant:10327 NM_000132.3(F8):c.6744G>T (p.Trp2248Cys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:1301932|PMID:15357786|PMID:6438527|PMID:2378544|PMID:1357455 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
899 ClinVarVariant:7107 NM_000492.3(CFTR):c.1477C>T (p.Gln493Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2236053|PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
900 ClinVarVariant:10317 NM_000132.3(F8):c.6518C>T (p.Thr2173Ile) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:1301960 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
901 ClinVarVariant:7117 NM_000492.3(CFTR):c.1646G>T (p.Ser549Ile) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:2236053|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
902 ClinVarVariant:7147 NM_000492.3(CFTR):c.429delT (p.Phe143Leufs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:1374052|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
903 ClinVarVariant:10307 NM_000132.3(F8):c.6263C>T (p.Ser2088Phe) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
904 ClinVarVariant:53902 NM_000492.3(CFTR):c.4144C>T (p.Gln1382Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
905 MGI:2179062 Tg(Camk2a-tTA)1Mmay NCBITaxon:10090 Mus musculus MGI:88256 Camk2a MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006|ECO:0000006|ECO:0000006 experimental evidence|experimental evidence|experimental evidence|experimental evidence PMID:18295356|PMID:20145109|PMID:24503275|PMID:16400147 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
906 ClinVarVariant:17975 NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:18376109|PMID:3878661|PMID:19072562|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
907 ClinVarVariant:1578 NM_052910.2(SLITRK1):c.1264delC (p.Leu422Phefs) NCBITaxon:9606 Homo sapiens NCBIGene:114798 SLITRK1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8425124|PMID:1564054|PMID:23418216|PMID:8173824|PMID:20063404 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
908 ClinVarVariant:7177 NM_000492.3(CFTR):c.3718-1G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7683952|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
909 MGI:2177646 Tg(Camk2a-cre)T29-1Stl NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23936366 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
910 ClinVarVariant:159152 NM_133433.3(NIPBL):c.5465A>G (p.Asp1822Gly) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
911 ClinVarVariant:162092 NM_183357.2(ADCY5):c.3086T>A (p.Met1029Lys) NCBITaxon:9606 Homo sapiens NCBIGene:111 ADCY5 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
912 ClinVarVariant:159162 NM_133433.3(NIPBL):c.5862+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
913 MGI:1861234 Wt NCBITaxon:10090 Mus musculus MGI:1861234 Wt RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:13834122|PMID:13834122 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
914 MGI:3604457 B3galt2<tm1Dgen> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence MGI:3604450 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
915 MGI:4438929 Tg(ACTB-Eif4e)#Ppp NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:26306459 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
916 ClinVarVariant:10660 NM_000133.3(F9):c.1151G>C (p.Arg384Pro) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:8178822|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
917 ClinVarVariant:10650 NM_000133.3(F9):c.1231A>G (p.Ser411Gly) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:1346975|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
918 ClinVarVariant:140608 NM_032822.2(FAM136A):c.226C>T (p.Gln76Ter) NCBITaxon:9606 Homo sapiens NCBIGene:84908 FAM136A HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:11486588|PMID:25305078|PMID:11349790|PMID:16374063|PMID:19828125|PMID:9792487 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
919 ClinVarVariant:8978 NM_001079668.2(NKX2-1):c.464-2A>T NCBITaxon:9606 Homo sapiens NCBIGene:7080 NKX2-1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:12891678 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
920 ClinVarVariant:5287 PDE11A, 1-BP DEL, 171T NCBITaxon:9606 Homo sapiens NCBIGene:50940 PDE11A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16767104 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
921 ClinVarVariant:53379 NM_000492.3(CFTR):c.1766+3A>G NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:23974870|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
922 ClinVarVariant:10217 NM_000132.3(F8):c.1492G>A (p.Gly498Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:6438527|PMID:8281136|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
923 ClinVarVariant:10207 NM_000132.3(F8):c.1197_1198delAA (p.Lys399Asnfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
924 ClinVarVariant:13918 NM_020630.4(RET):c.1902C>G (p.Cys634Trp) NCBITaxon:9606 Homo sapiens NCBIGene:5979 RET HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12000816|PMID:6829807|PMID:17474956|PMID:7907913|PMID:14605591|PMID:19569019|PMID:17898100|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
925 ClinVarVariant:13908 NM_020975.4(RET):c.1900T>G (p.Cys634Gly) NCBITaxon:9606 Homo sapiens NCBIGene:5979 RET HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8825918|PMID:8099202|PMID:3078962|PMID:6829807|PMID:17474956|PMID:14605591|PMID:12000816|PMID:7907913|PMID:19569019|PMID:9111993|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
926 ClinVarVariant:99940 NM_133433.3(NIPBL):c.7327C>T (p.Gln2443Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
927 ClinVarVariant:10152 NM_000132.3(F8):c.43C>T (p.Arg15Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:1349567|PMID:1979502 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
928 ClinVarVariant:10581 NM_000133.3(F9):c.479G>C (p.Gly160Ala) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2564457|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
929 ClinVarVariant:10248 NM_000132.3(F8):c.2383A>T (p.Arg795Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1979502|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
930 ClinVarVariant:3556 NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
931 MGI:2388370 Tnc<tm1Msch> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16553788 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
932 ClinVarVariant:10238 F8, IVS12DS, G-A, +5 NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
933 ClinVarVariant:10228 NM_000132.3(F8):c.1726G>T (p.Glu576Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:1301932 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
934 MGI:3577248 Dp(11Cops3-Rnf112)1Jrl NCBITaxon:10090 Mus musculus RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:14709593|PMID:14709593 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
935 ClinVarVariant:10218 F8, 11-BP DEL, FS NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:8307558|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
936 MGI:3578225 Gsk3a<tm1Dral> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20357757 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
937 MGI:2182936 Slc18a2<tm2Kmo> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19553450 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
938 ClinVarVariant:10298 NM_000132.3(F8):c.5936G>T (p.Gly1979Val) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:7728145|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
939 MGI:2686971 Anxty<NZB> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000304|ECO:0000304 traceable author statement used in manual assertion|traceable author statement used in manual assertion PMID:12719372|PMID:12719372 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
940 ClinVarVariant:10288 NM_000132.3(F8):c.5600A>G (p.His1867Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:1924291 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
941 ClinVarVariant:10621 F9, PHE378LEU NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
942 ClinVarVariant:13411 NM_000311.3(PRNP):c.623G>A (p.Arg208His) NCBITaxon:9606 Homo sapiens NCBIGene:5621 PRNP HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:15753435|PMID:16533975|PMID:8909447 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
943 ClinVarVariant:10601 NM_000133.3(F9):c.697G>A (p.Ala233Thr) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2773937|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
944 MGI:2384535 Cckbr<tm1Tom> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:15325774|PMID:15013032 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
945 ClinVarVariant:53793 NM_000492.3(CFTR):c.3718-3T>G NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
946 ClinVarVariant:10631 F9, EX1DEL NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2741941|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
947 MGI:3827095 Scn8a<Clth> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19737145 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
948 ClinVarVariant:10611 NM_000133.3(F9):c.1069G>A (p.Gly357Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2773937|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
949 ClinVarVariant:10278 NM_000132.3(F8):c.5422C>T (p.Leu1808Phe) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:1301932|PMID:15357786|PMID:8307558|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
950 ClinVarVariant:10268 NM_000132.3(F8):c.5143C>G (p.Arg1715Gly) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:1349567|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
951 ClinVarVariant:12670 NM_002734.4(PRKAR1A):c.-7+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:5573 PRKAR1A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:12213893 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
952 ClinVarVariant:10258 NM_000132.3(F8):c.4293_4297delCTCTT (p.His1434Serfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
953 MGI:4867464 Nlgn3<tm1.1Htz> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:19360662|PMID:19360662 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
954 ClinVarVariant:99931 NM_015384.4(NIPBL):c.4806_4807delGA (p.Glu1602Aspfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
955 ClinVarVariant:13909 NM_020975.4(RET):c.1901G>A (p.Cys634Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:5979 RET HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7914213|PMID:7907913|PMID:12000816|PMID:7824936|PMID:6829807|PMID:17474956|PMID:14605591|PMID:8099202|PMID:3078962|PMID:19569019|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
956 ClinVarVariant:9213 NM_000457.4(HNF4A):c.1204G>A (p.Val402Ile) NCBITaxon:9606 Homo sapiens NCBIGene:3172 HNF4A HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2209327|PMID:9428966|PMID:22188726|PMID:22397240|PMID:9449683|PMID:12429356 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
957 ClinVarVariant:10651 NM_000133.3(F9):c.1228G>C (p.Asp410His) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:1346975|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
958 ClinVarVariant:7138 NM_000492.3(CFTR):c.3717+4A>G NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:1371265 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
959 MGI:2176752 Tg(Camk2a-cre)93Kln NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11579207 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
960 ClinVarVariant:7128 NM_000492.3(CFTR):c.2738A>G (p.Tyr913Cys) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:2210768|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
961 ClinVarVariant:140609 NM_001198938.1(DTNA):c.1963G>T (p.Val655Phe) NCBITaxon:9606 Homo sapiens NCBIGene:1837 DTNA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:11486588|PMID:11349790|PMID:25305078|PMID:16374063|PMID:19828125|PMID:9792487 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
962 ClinVarVariant:99921 NM_015384.4(NIPBL):c.1445_1448delGAGA (p.Arg482Asnfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
963 MGI:4837197 Fev<tm2Esd> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20818386 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
964 MGI:2677720 Tg(CAG-cre/Esr1*)1Lbe NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:26886798 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
965 ClinVarVariant:10318 NM_000132.3(F8):c.6532C>T (p.Arg2178Cys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1924291|PMID:9302853|PMID:8449505|PMID:1301960|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1301932|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
966 MGI:3573904 Aaj4 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059 experimental phenotypic evidence PMID:15371360 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
967 ClinVarVariant:10308 NM_000132.3(F8):c.6278A>G (p.Asp2093Gly) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7728145|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
968 MGI:5706836 Olfm2<tm1.1Sit> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:25218043 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
969 ClinVarVariant:10338 F8, EX4-10DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:8307558|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
970 MGI:3580560 Nsila1<C57BL/6J> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000304 traceable author statement used in manual assertion PMID:15904718 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
971 ClinVarVariant:209046 NM_000492.3(CFTR):c.2423_2424dupAT (p.Ser809Ilefs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:1691449|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
972 ClinVarVariant:159103 NM_133433.3(NIPBL):c.3G>T (p.Met1Ile) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
973 ClinVarVariant:7188 NM_000492.3(CFTR):c.459_476del18 (p.Ala155_Ile160del) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:1757965|PMID:7513292|PMID:7866213|PMID:20171652|PMID:20495477|PMID:7581390|PMID:12796866|PMID:1678049 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
974 ClinVarVariant:67056 NM_000218.2(KCNQ1):c.1793A>G (p.Lys598Arg) NCBITaxon:9606 Homo sapiens NCBIGene:3784 KCNQ1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:9172914|PMID:9602186|PMID:17854255|PMID:18596570|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
975 ClinVarVariant:7108 NM_000492.3(CFTR):c.328G>C (p.Asp110His) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:25024266|PMID:22043142|PMID:15371907|PMID:10719683|PMID:23857699|PMID:7866213|PMID:20171652|PMID:20495477|PMID:18373402|PMID:12796866|PMID:22504961|PMID:11278813|PMID:9521595|PMID:23276700|PMID:15084222|PMID:18456578|PMID:2344617|PMID:10361400|PMID:23891399|PMID:23974870|PMID:11446424|PMID:12439892|PMID:16436643|PMID:12752573|PMID:2565038|PMID:2344617|PMID:15638824|PMID:23420618 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
976 ClinVarVariant:10328 NM_000132.3(F8):c.6794A>G (p.Gln2265Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:7728145|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
977 ClinVarVariant:1579 NM_052910.2(SLITRK1):c.*689G>A NCBITaxon:9606 Homo sapiens NCBIGene:114798 SLITRK1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8425124|PMID:1564054|PMID:18413575|PMID:23418216|PMID:8173824|PMID:20351724|PMID:20063404|PMID:17035247 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
978 ClinVarVariant:7178 NM_000492.3(CFTR):c.3767dupC (p.Leu1258Phefs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:7683952 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
979 ClinVarVariant:17976 NM_001127701.1(SERPINA1):c.552delC (p.Tyr184Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:18376109|PMID:3878661|PMID:19072562|PMID:23547634|PMID:3040726 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
980 ClinVarVariant:53903 NM_000492.3(CFTR):c.4147dupA (p.Ile1383Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
981 MGI:5448531 Arid3a<tm1b(KOMP)Wtsi> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000015 mutant phenotype evidence http://data.monarchinitiative.org/ttl/impc.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
982 ClinVarVariant:53933 NM_000492.3(CFTR):c.4251delA (p.Glu1418Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
983 ClinVarVariant:7198 NM_000492.3(CFTR):c.1055G>A (p.Arg352Gln) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7504969|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:23974870|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
984 MGI:3757650 Arhgef9<tm1.1Betz> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:17690689 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
985 ClinVarVariant:159053 NM_133433.3(NIPBL):c.2389C>T (p.Arg797Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
986 MGI:3696979 Tg(Fev-cre)1Esd NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21885734 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
987 ClinVarVariant:159033 NM_133433.3(NIPBL):c.1372C>T (p.Gln458Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
988 ClinVarVariant:159043 NM_015384.4(NIPBL):c.2046delA (p.Lys682Asnfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
989 ClinVarVariant:5771 SGCE, 97-BP DEL NCBITaxon:9606 Homo sapiens NCBIGene:8910 SGCE HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:11528394 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
990 ClinVarVariant:53883 NM_000492.3(CFTR):c.4077_4080delTGTTinsAA (p.Val1360Thrfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
991 ClinVarVariant:51033 NM_000492.3(CFTR):c.2989-977_3367+248del NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
992 ClinVarVariant:159073 NM_015384.4(NIPBL):c.310_317delCCTAATGT (p.Pro104Phefs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
993 ClinVarVariant:29760 IRS1, 3-BP DEL, GLY723 NCBITaxon:9606 Homo sapiens NCBIGene:3667 IRS1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2209327|PMID:9428966|PMID:8723689|PMID:22188726|PMID:22397240|PMID:12429356 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
994 ClinVarVariant:66105 NG_016465.4:g.37530_58609del NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:23974870|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
995 MGI:2176751 Tg(Camk2a-cre)159Kln NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:10571233 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
996 ClinVarVariant:159083 NM_133433.3(NIPBL):c.345A>G (p.Arg115=) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
997 ClinVarVariant:90298 NM_000249.3(MLH1):c.62C>T (p.Ala21Val) NCBITaxon:9606 Homo sapiens NCBIGene:4292 MLH1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
998 ClinVarVariant:159093 NM_015384.4(NIPBL):c.3788_3789delTG (p.Val1263Glufs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
999 MGI:2136456 Penk-rs<tm1Pig> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:8849726 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1000 MGI:2447334 Tg(APP695)3Dbo NCBITaxon:10090 Mus musculus MGI:88059 App MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16354928 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1001 MGI:2180752 Maob<tm1Shih> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15272015 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1002 ClinVarVariant:159223 NM_133433.3(NIPBL):c.7168G>A (p.Ala2390Thr) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1003 ClinVarVariant:4687 VPS13A, 1-BP DEL, 6059C NCBITaxon:9606 Homo sapiens NCBIGene:23230 VPS13A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15824261 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1004 ClinVarVariant:90871 NM_000251.2(MSH2):c.204delG (p.Pro69Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1005 ClinVarVariant:7228 NM_000492.3(CFTR):c.3469-20T>C NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:10869121|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
1006 MGI:3778285 Tg(DRD1-ctxA)7Burt NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:10780249|PMID:10780249 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
1007 MGI:4440439 Tg(CAG-VCP*R155H)55Jpat NCBITaxon:10090 Mus musculus NCBIGene:7415 VCP RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:20147319|PMID:20147319 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1008 MGI:5544724 Gbx1<tm1Mrh> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24010020 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1009 ClinVarVariant:7218 NM_000492.3(CFTR):c.3907A>C (p.Asn1303His) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7504969|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1010 MGI:2176219 Emx1<tm1(cre)Yql> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22726441 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1011 ClinVarVariant:159143 NM_133433.3(NIPBL):c.5329-1G>C NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1012 ClinVarVariant:15126 NM_000518.4(HBB):c.19G>A (p.Glu7Lys) NCBITaxon:9606 Homo sapiens NCBIGene:3043 HBB HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:9491171|PMID:17938043|PMID:3375880|PMID:21425450 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1013 ClinVarVariant:9393 NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:6331 SCN5A HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:12471205|PMID:18378609|PMID:9172914|PMID:9602186|PMID:15851227|PMID:17854255|PMID:16453024|PMID:22796196|PMID:12193783 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1014 MGI:4837202 Tg(Fev-cre/ERT2)aEsd NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20818386 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1015 ClinVarVariant:183420 NM_017831.3(RNF125):c.336G>A (p.Met112Ile) NCBITaxon:9606 Homo sapiens NCBIGene:54941 RNF125 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:25196541 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1016 ClinVarVariant:159213 NM_133433.3(NIPBL):c.6952C>T (p.Gln2318Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1017 ClinVarVariant:8504 NM_001127221.1(CACNA1A):c.653C>T (p.Ser218Leu) NCBITaxon:9606 Homo sapiens NCBIGene:773 CACNA1A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:11409427|PMID:18313928 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1018 MGI:5432023 Grin2b<tm1Mony> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:19081379|PMID:19081379 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1019 ClinVarVariant:7238 NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12952861|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1020 ClinVarVariant:7208 NM_000492.3(CFTR):c.3194T>C (p.Leu1065Pro) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7522211|PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1021 MGI:3604447 Ulk2<tm1Lex> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence MGI:3609573 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1022 MGI:4837197 Fev<tm2Esd> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20818386 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1023 ClinVarVariant:35822 NM_000492.3(CFTR):c.1397C>G (p.Ser466Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1024 MGI:3530009 Atp1a1<Gt(OST31117)Lex> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence MGI:3609573 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1025 ClinVarVariant:159163 NM_133433.3(NIPBL):c.5923G>T (p.Val1975Phe) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1026 ClinVarVariant:159153 NM_133433.3(NIPBL):c.5482C>T (p.Arg1828Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1027 ClinVarVariant:159113 NM_133433.3(NIPBL):c.4320+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1028 ClinVarVariant:159193 NM_133433.3(NIPBL):c.64+5G>A NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1029 ClinVarVariant:159183 NM_133433.3(NIPBL):c.6250G>T (p.Val2084Leu) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1030 ClinVarVariant:159173 NM_133433.3(NIPBL):c.6108+1G>T NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1031 MGI:3603461 Avpr1a<tm1Sbhu> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16046007|PMID:14647484 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1032 ClinVarVariant:189095 NM_000492.3(CFTR):c.850dupA (p.Met284Asnfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16488363|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:7684644 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1033 ClinVarVariant:12783 NM_003000.2(SDHB):c.79C>T (p.Arg27Ter) NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:14685938|PMID:12000816|PMID:6829807|PMID:14685938|PMID:17474956|PMID:14605591|PMID:12000816|PMID:19569019|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1034 MGI:3512756 Mapt<tm1(cre)Nagy> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20130183 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1035 MGI:2178544 Crhr1<tm1Klee> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006|ECO:0000006|ECO:0000006 experimental evidence|experimental evidence|experimental evidence PMID:11756502|PMID:11756502|PMID:22231481 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1036 ClinVarVariant:1759 NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7937795|PMID:8539655|PMID:15857188|PMID:21883167|PMID:17587321|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1037 ClinVarVariant:1769 nsv513794 NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12694232|PMID:8539655|PMID:15857188|PMID:21883167|PMID:17587321|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1038 ClinVarVariant:10598 F9, TRP215TER NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1039 ClinVarVariant:188933 NM_000277.1(PAH):c.116_118delTCT (p.Phe39del) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:12655553|PMID:19609714|PMID:10394930|PMID:19292873|PMID:19292873|PMID:8406445|PMID:9452062|PMID:8406445|PMID:21147011|PMID:12655550|PMID:17096675|PMID:23500595|PMID:19394257|PMID:23500595|PMID:24350308|PMID:23792259|PMID:23357515|PMID:17935162|PMID:17935162|PMID:23932990|PMID:16256386|PMID:23430918 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1040 MGI:2176172 Tg(Nes-cre)1Kln NCBITaxon:10090 Mus musculus MGI:101784 Nes MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:23777740|PMID:20889973 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1041 ClinVarVariant:102586 NM_000277.1(PAH):c.1301C>A (p.Ala434Asp) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:24401910|PMID:16256386|PMID:19099685|PMID:18247293|PMID:21811977|PMID:17924342|PMID:23932990|PMID:19147918 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1042 ClinVarVariant:10568 NM_000133.3(F9):c.52T>C (p.Cys18Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1043 ClinVarVariant:217122 NM_002609.3(PDGFRB):c.1751C>G (p.Pro584Arg) NCBITaxon:9606 Homo sapiens NCBIGene:5159 PDGFRB HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:25454926 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1044 ClinVarVariant:13398 NM_000311.3(PRNP):c.598G>A (p.Glu200Lys) NCBITaxon:9606 Homo sapiens NCBIGene:5621 PRNP HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:9279329|PMID:10889050|PMID:2253724|PMID:15286374|PMID:7916462|PMID:1975028|PMID:1684758|PMID:25279981|PMID:7936296|PMID:1404799|PMID:7999318|PMID:1798423|PMID:1684755|PMID:1351274|PMID:1469441|PMID:10665501|PMID:2572450|PMID:11839833|PMID:8105682|PMID:8618678 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1045 ClinVarVariant:10578 NM_000133.3(F9):c.301C>G (p.Pro101Ala) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2743975|PMID:3392024|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1046 MGI:5429214 Tg(SNCA)ARyot NCBITaxon:10090 Mus musculus NCBIGene:6622 SNCA RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:22475625|PMID:22475625 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1047 ClinVarVariant:3904 NM_000520.5(HEXA):c.409C>T (p.Arg137Ter) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1532289|PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:1837283|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1048 MGI:5751298 Axtofd6 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000059 experimental phenotypic evidence PMID:14990867 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1049 ClinVarVariant:3914 NM_000520.5(HEXA):c.1A>G (p.Met1Val) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1532289|PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1050 MGI:3603597 Bace1<tm2Psa> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:15987683 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1051 MGI:5296951 Disc1<tm1Kozo> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21903668 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1052 ClinVarVariant:12910 NM_152296.4(ATP1A3):c.821T>C (p.Ile274Thr) NCBITaxon:9606 Homo sapiens NCBIGene:478 ATP1A3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15260953 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1053 ClinVarVariant:6910 NM_003002.3(SDHD):c.463delA (p.Met155Cysfs) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:15032977 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1054 MGI:3041595 Axtofd3<L1> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:14990867 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1055 ClinVarVariant:6900 NM_003002.3(SDHD):c.341A>G (p.Tyr114Cys) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:11343322 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1056 ClinVarVariant:3934 NM_000520.5(HEXA):c.1360G>A (p.Gly454Ser) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16301864|PMID:8355954|PMID:696935|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1057 MGI:5515451 M876b NCBITaxon:10090 Mus musculus MGI:5515451 M876b MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16109771 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1058 MGI:3608888 Ric8a<tm1Aks> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16221497 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1059 ClinVarVariant:3894 NM_000520.5(HEXA):c.1510delC (p.Arg504Alafs) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2954459|PMID:2531748|PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1060 ClinVarVariant:120262 NM_000277.1(PAH):c.1180G>T (p.Asp394Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1061 MGI:3778285 Tg(DRD1-ctxA)7Burt NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:10780249|PMID:10780249 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1062 MGI:1857222 Ncam1<tm1Cgn> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000015|ECO:0000015 mutant phenotype evidence|mutant phenotype evidence http://data.monarchinitiative.org/ttl/impc.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1063 MGI:2177567 Gad2<tm1Oba> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:10814732|PMID:10814732 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1064 ClinVarVariant:99938 NM_133433.3(NIPBL):c.6892C>G (p.Arg2298Gly) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1065 ClinVarVariant:102696 NM_000277.1(PAH):c.47_48delCT (p.Ser16Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:23430547|PMID:10394930|PMID:17935162|PMID:12655550|PMID:19444284|PMID:8535445|PMID:8535445|PMID:16879198|PMID:19062537|PMID:23357515|PMID:12655553|PMID:21147011 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1066 MGI:3625122 Ids<tm1Muen> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16505002 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1067 MGI:2176368 Pdyn<tm1Ute> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:12843270 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1068 MGI:2679626 Cplx2<tm1Rmnd> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20412316 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1069 ClinVarVariant:99928 NM_015384.4(NIPBL):c.4285_4294delGAACTACAGT (p.Glu1429Cysfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1070 MGI:3604494 Gpr19<tm1Dgen> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence MGI:3604450 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1071 ClinVarVariant:31074 NM_017775.3(TTC19):c.517C>T (p.Gln173Ter) NCBITaxon:9606 Homo sapiens NCBIGene:54902 TTC19 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:21278747 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1072 ClinVarVariant:2410 PINK1, 3-BP INS, 1602CAA NCBITaxon:9606 Homo sapiens NCBIGene:102464833 MIR6084 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15970950 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1073 ClinVarVariant:584 NM_000277.1(PAH):c.754C>T (p.Arg252Trp) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:2574153|PMID:8533759|PMID:11461196|PMID:18299955|PMID:23500595|PMID:12655553|PMID:18294361|PMID:24350308|PMID:11524738|PMID:23074961|PMID:20920871|PMID:24301756|PMID:8831077|PMID:8116675|PMID:23792259|PMID:8304187|PMID:12649065|PMID:2044609|PMID:17935162|PMID:10693064|PMID:2574153|PMID:22513348 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1074 MGI:5293607 Tg(MAPT*V337M)1Gds NCBITaxon:10090 Mus musculus NCBIGene:4137 MAPT RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:25471585|PMID:25471585 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1075 ClinVarVariant:594 NM_000277.1(PAH):c.442-1G>A NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1998345|PMID:24401910|PMID:1998345|PMID:3093157 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1076 ClinVarVariant:92750 NM_000277.1(PAH):c.890G>A (p.Arg297His) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1077 ClinVarVariant:218134 NM_000520.5(HEXA):c.1385A>T (p.Glu462Val) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16301864|PMID:8355954|PMID:696935|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1078 ClinVarVariant:10668 NM_000133.3(F9):c.1151G>T (p.Arg384Leu) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1079 ClinVarVariant:92730 NM_000277.1(PAH):c.1200-1G>A NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1080 ClinVarVariant:10658 NM_000133.3(F9):c.1256T>A (p.Val419Glu) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8199596|PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1081 ClinVarVariant:10648 F9, IVS4, 4442-BP DEL NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:1346483|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1082 MGI:3762618 Grn<tm1Mni> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17764761 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1083 MGI:1857392 Crh<tm1Maj> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:22231481 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1084 ClinVarVariant:156238 NM_152296.4(ATP1A3):c.2452G>A (p.Glu818Lys) NCBITaxon:9606 Homo sapiens NCBIGene:478 ATP1A3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1085 ClinVarVariant:219155 NM_003000.2(SDHB):c.131_139delTCTATCGAT (p.Ile44_Trp47delinsArg) NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1086 ClinVarVariant:102786 NM_000277.1(PAH):c.691T>C (p.Ser231Pro) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:10196714|PMID:22763404|PMID:18346471|PMID:24301756|PMID:8535444 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1087 ClinVarVariant:211644 NM_015384.4(NIPBL):c.4988_4991dupCTGA (p.Glu1664Aspfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1088 MGI:2386951 Tg(HDexon1)62Gpb NCBITaxon:10090 Mus musculus NCBIGene:3064 HTT RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059|ECO:0000006|ECO:0000006 experimental phenotypic evidence|experimental evidence|experimental evidence PMID:19464370|PMID:19464370|PMID:19464370 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1089 MGI:3814564 Tg(MT1A-Dyrk1a)#Xest NCBITaxon:10090 Mus musculus NCBIGene:25255 Dyrk1a RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:11555628|PMID:11555628 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1090 NCBIGene:81861 LPRS NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246|ECO:0000177 computational combinatorial evidence used in automatic assertion|genomic context evidence PMID:6819753|PMID:1784156|PMID:7278143|PMID:7861049|PMID:6668935 http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1091 ClinVarVariant:211634 NM_133433.3(NIPBL):c.4320+2dup NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1092 ClinVarVariant:211624 NM_015384.4(NIPBL):c.1992dupC (p.Glu665Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1093 ClinVarVariant:211664 NM_015384.4(NIPBL):c.7913dupA (p.Val2639Glyfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1094 ClinVarVariant:211654 NM_133433.3(NIPBL):c.6249+2dup NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1095 ClinVarVariant:10638 F9, 1-BP DEL, ASP85FS NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:19187190|PMID:2821070 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1096 ClinVarVariant:55905 NM_000492.3(CFTR):c.1645A>C (p.Ser549Arg) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10480369|PMID:10361400|PMID:2236053|PMID:7866213|PMID:20171652|PMID:20495477|PMID:10652351|PMID:12796866|PMID:10204861|PMID:1903761 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1097 ClinVarVariant:89534 NM_000179.2(MSH6):c.467C>G (p.Ser156Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2956 MSH6 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8539655|PMID:24362816|PMID:15857188|PMID:21883167|PMID:17587321|PMID:1548301|PMID:10508506|PMID:22773173|PMID:18301448 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1098 ClinVarVariant:10628 NM_000133.3(F9):c.1357T>C (p.Trp453Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:2773937|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1099 MGI:5752777 Disc1<m1H> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:26728762 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1100 ClinVarVariant:188929 NM_000520.5(HEXA):c.986+3A>G NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7551830|PMID:696935|PMID:20597919|PMID:16301864|PMID:24518553|PMID:23035047|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1101 ClinVarVariant:10618 NM_000133.3(F9):c.1088G>T (p.Gly363Val) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1102 ClinVarVariant:10608 NM_000133.3(F9):c.1058T>C (p.Val353Ala) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1103 MGI:3795205 Tg(Fev-flpe)1Dym NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:19679071|PMID:19679071 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1104 MGI:2182740 Nfatc2<tm1Glm> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:16554754|PMID:16554754 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1105 ClinVarVariant:10123 F8, EX26DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7728145|PMID:9302853|PMID:2473810|PMID:10734657|PMID:1523102|PMID:17498080|PMID:15357786|PMID:8485051|PMID:1969840|PMID:2378544|PMID:2493803 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1106 ClinVarVariant:10133 F8, EX14DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2907841|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1107 MGI:2183231 Tacr1<tm1Rhn> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:11172050 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1108 ClinVarVariant:156507 NM_000179.2(MSH6):c.1705_1706delTT (p.Phe569Hisfs) NCBITaxon:9606 Homo sapiens NCBIGene:2956 MSH6 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:24362816|PMID:8539655|PMID:20028993|PMID:15857188|PMID:21883167|PMID:17587321|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1109 ClinVarVariant:102596 NM_000277.1(PAH):c.1355dupA (p.Ter453Valfs) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:10394930|PMID:14722928|PMID:12655553|PMID:9634518|PMID:23357515|PMID:23430918 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1110 ClinVarVariant:10103 F8, EX7-14DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:2833855|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1111 ClinVarVariant:10113 F8, EX14DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2473810|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1112 ClinVarVariant:10348 F8, EX23-24DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:1523102|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1113 ClinVarVariant:7158 NM_000492.3(CFTR):c.3197G>A (p.Arg1066His) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:1284639|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1114 ClinVarVariant:7168 NM_000492.3(CFTR):c.1766+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:1284540|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1115 MGI:5312129 Xpa<tm1Gvh> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:22174697 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
1116 MGI:3577248 Dp(11Cops3-Rnf112)1Jrl NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:18469339|PMID:18469339 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1117 ClinVarVariant:209066 NM_000492.3(CFTR):c.2053dupC (p.Gln685Profs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1118 ClinVarVariant:159123 NM_133433.3(NIPBL):c.4643+1G>C NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1119 ClinVarVariant:209056 NM_000492.3(CFTR):c.3747delG (p.Lys1250Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1120 ClinVarVariant:96337 NM_133433.3(NIPBL):c.2602C>T (p.Arg868Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18430761|PMID:17640042|PMID:17845236|PMID:19309268|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1121 ClinVarVariant:102736 NM_000277.1(PAH):c.561G>A (p.Trp187Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8268925|PMID:23430918|PMID:17935162|PMID:24368688|PMID:12655553|PMID:23932990|PMID:9634518|PMID:15503242|PMID:9012412|PMID:17502162|PMID:17096675 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1122 ClinVarVariant:17258 NM_000089.3(COL1A2):c.1981G>A (p.Gly661Ser) NCBITaxon:9606 Homo sapiens NCBIGene:1278 COL1A2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8786074|PMID:21847749|PMID:75706|PMID:2052622|PMID:21525520|PMID:12099988|PMID:16137956|PMID:1463018 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1123 ClinVarVariant:31174 NM_145239.2(PRRT2):c.718C>T (p.Arg240Ter) NCBITaxon:9606 Homo sapiens NCBIGene:112476 PRRT2 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:22832103 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1124 ClinVarVariant:10353 F8, ALU INS NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:12884004|PMID:10734657|PMID:17498080|PMID:15357786|PMID:8576960|PMID:2378544|PMID:11713379 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1125 ClinVarVariant:7123 NM_000492.3(CFTR):c.1675G>A (p.Ala559Thr) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:1695717|PMID:7866213|PMID:20171652|PMID:1712898|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1126 ClinVarVariant:10343 F8, EX15-22DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:7728145|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1127 MGI:3764730 Nr2e1<tm2Gsc> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:17953618 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1128 ClinVarVariant:7113 NM_000492.3(CFTR):c.1679G>C (p.Arg560Thr) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2236053|PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1129 ClinVarVariant:10333 NM_000132.3(F8):c.6967C>T (p.Arg2323Cys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1908096|PMID:2378544|PMID:1412186 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1130 ClinVarVariant:7133 NM_000492.3(CFTR):c.3947G>A (p.Trp1316Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:2233965|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1131 ClinVarVariant:10323 F8, 3-BP DEL, PRO220 DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:8307558|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1639429|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1132 ClinVarVariant:7183 NM_000492.3(CFTR):c.271G>A (p.Gly91Arg) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7682984|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1133 ClinVarVariant:7163 NM_000492.3(CFTR):c.948delT (p.Phe316Leufs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8262525|PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:1379211|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1134 ClinVarVariant:7173 NM_000492.3(CFTR):c.1601C>A (p.Ala534Glu) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7683952|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1135 ClinVarVariant:7153 NM_000492.3(CFTR):c.933C>G (p.Phe311Leu) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:1284639|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1136 dbSNP:rs9494145 rs9494145-? NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:9491171|PMID:17938043|PMID:25372704 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1137 ClinVarVariant:7143 NM_000492.3(CFTR):c.254G>A (p.Gly85Glu) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:1710599|PMID:1757965|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1138 ClinVarVariant:35859 NM_000492.3(CFTR):c.3038C>A (p.Pro1013His) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1139 ClinVarVariant:6907 NM_003002.3(SDHD):c.416T>C (p.Leu139Pro) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1140 ClinVarVariant:180195 NM_015384.4(NIPBL):c.7900_7937del38 (p.Glu2635Glnfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1141 ClinVarVariant:1466 NM_000190.3(HMBS):c.530T>G (p.Leu177Arg) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1427766 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1142 MGI:3580570 Nsila6<C57BL/6J> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000304|ECO:0000304 traceable author statement used in manual assertion|traceable author statement used in manual assertion PMID:15904718|PMID:15904718 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1143 ClinVarVariant:1456 NM_000190.3(HMBS):c.499C>T (p.Arg167Trp) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:2243128|PMID:15534187|PMID:1496994|PMID:1301948|PMID:1577472 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1144 ClinVarVariant:53475 NM_000492.3(CFTR):c.233dupT (p.Trp79Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1145 ClinVarVariant:10313 NM_000132.3(F8):c.6464_6465delAA (p.Lys2155Thrfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1923751|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1146 MGI:3821974 Snap25<tm1.1Bark> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19043548 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1147 MGI:5317543 Gpr26<tm1Zgwg> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21924326 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1148 ClinVarVariant:35879 NM_000492.3(CFTR):c.3957_3958insAGGG (p.Asp1320Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1149 ClinVarVariant:209051 NM_000492.3(CFTR):c.(2619+1_2620-1)_(3367+1_3368-1)del NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1150 ClinVarVariant:35849 NM_000492.3(CFTR):c.2810dupT (p.Val938Glyfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1151 MGI:4353628 Gt(ROSA)26Sor<tm8(RNAi:Crhr1)Rkuhn> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:18518923 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1152 MGI:5493322 Zfp42<tm1b(KOMP)Mbp> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000015|ECO:0000006 mutant phenotype evidence|experimental evidence MGI:5576271 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/impc.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1153 ClinVarVariant:15161 NM_000518.4(HBB):c.79G>A (p.Glu27Lys) NCBITaxon:9606 Homo sapiens NCBIGene:3043 HBB HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:9491171|PMID:17938043|PMID:3375880|PMID:21425450 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
1154 MGI:3580549 Nsila9 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059 experimental phenotypic evidence PMID:15904718 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1155 ClinVarVariant:35829 NM_000492.3(CFTR):c.1673T>C (p.Leu558Ser) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1156 MGI:2176049 Tg(ACTB-cre)2Mrt NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19679071 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1157 ClinVarVariant:209061 NM_000492.3(CFTR):c.1365_1366delGG (p.Val456Cysfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1158 ClinVarVariant:67786 NM_000335.4(SCN5A):c.3247G>A (p.Gly1083Ser) NCBITaxon:9606 Homo sapiens NCBIGene:6331 SCN5A HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:9172914|PMID:9602186|PMID:17854255|PMID:18596570|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1159 ClinVarVariant:67706 NM_000335.4(SCN5A):c.2039G>A (p.Arg680His) NCBITaxon:9606 Homo sapiens NCBIGene:6331 SCN5A HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:21385947|PMID:9172914|PMID:9602186|PMID:22677073|PMID:17210841|PMID:17854255|PMID:17210839|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1160 ClinVarVariant:7193 NM_000492.3(CFTR):c.1013C>T (p.Thr338Ile) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:7543567 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1161 ClinVarVariant:53515 NM_000492.3(CFTR):c.2583delT (p.Phe861Leufs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1162 ClinVarVariant:225136 NM_000277.1(PAH):c.1172G>C (p.Ser391Thr) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1163 MGI:3612048 Crebbp<tm2Pkb> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:26730956 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1164 MGI:5007269 Oit1<tm1Lex> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20562862|MGI:5000289 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1165 MGI:3522468 Ppargc1a<tm1Dpk> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:15760270 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1166 ClinVarVariant:7203 NM_000492.3(CFTR):c.2128A>T (p.Lys710Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:7504969|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1167 ClinVarVariant:2407 NM_032409.2(PINK1):c.736C>T (p.Arg246Ter) NCBITaxon:9606 Homo sapiens NCBIGene:102464833 MIR6084 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15349870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1168 ClinVarVariant:7233 CFTR, HIS1282TER NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12503104|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1169 MGI:5646417 Mbt1 NCBITaxon:10090 Mus musculus MGI:5646417 Mbt1 RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1170 ClinVarVariant:56245 NM_001042432.1(CLN3):c.1048delC (p.Leu350Cysfs) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1171 MGI:2385822 Hsd17b4<tm1Baes> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23777740 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1172 ClinVarVariant:53575 NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23951356|PMID:8910333|PMID:10361400|PMID:7691344|PMID:7866213|PMID:20171652|PMID:23974870|PMID:20495477|PMID:18456578|PMID:23974870|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1173 ClinVarVariant:7213 NM_000492.3(CFTR):c.1083delG (p.Trp361Cysfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:7524910 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1174 ClinVarVariant:92747 NM_000277.1(PAH):c.638T>C (p.Leu213Pro) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:17924342|PMID:19292873|PMID:23430547|PMID:22112818|PMID:9012412|PMID:23430918|PMID:9521426|PMID:8632937|PMID:8659548|PMID:23764561|PMID:16176881 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1175 ClinVarVariant:92727 NM_000277.1(PAH):c.1042C>G (p.Leu348Val) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1176 ClinVarVariant:11571 NM_002578.4(PAK3):c.1337G>C (p.Trp446Ser) NCBITaxon:9606 Homo sapiens NCBIGene:5063 PAK3 HP:0000739 Anxiety ECO:0000269 experimental evidence used in manual assertion PMID:17853471 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1177 ClinVarVariant:36967 NM_002501.3(NFIX):c.362G>C (p.Arg121Pro) NCBITaxon:9606 Homo sapiens NCBIGene:4784 NFIX HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:22301465 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1178 ClinVarVariant:56255 NM_001042432.1(CLN3):c.1268C>A (p.Ser423Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1179 ClinVarVariant:56295 NM_001042432.1(CLN3):c.979C>T (p.Gln327Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1180 MGI:3712115 Tg(Camk2a-Crebbp*)1364Tabe NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:15805310|PMID:15805310 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1181 ClinVarVariant:56285 NM_001042432.1(CLN3):c.582G>T (p.Leu194=) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1182 ClinVarVariant:56265 NM_001042432.1(CLN3):c.374G>A (p.Ser125Asn) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1183 ClinVarVariant:56275 NM_001042432.1(CLN3):c.485C>G (p.Ser162Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1184 ClinVarVariant:7243 SDHC, 8,372-BP DEL NCBITaxon:9606 Homo sapiens NCBIGene:6391 SDHC HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:15342702 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1185 MGI:5648042 Pde4b<enu1H> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:26272049 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1186 MGI:5438646 Usp46<CS> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:19465912 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1187 MGI:2183719 Tg(SOD1*G93A)1Gur NCBITaxon:10090 Mus musculus NCBIGene:6647 SOD1 RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:16737688|PMID:16737688 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1188 ClinVarVariant:120279 NM_000277.1(PAH):c.568G>A (p.Val190Met) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1189 ClinVarVariant:120289 NM_000277.1(PAH):c.841C>G (p.Pro281Ala) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1190 ClinVarVariant:4682 NM_033305.2(VPS13A):c.269T>A (p.Ile90Lys) NCBITaxon:9606 Homo sapiens NCBIGene:23230 VPS13A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:11381253 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1191 ClinVarVariant:48684 NM_000492.3(CFTR):c.313delA (p.Ile105Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1192 MGI:4410507 Rnf103<tm1.1Thg> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18958194|PMID:19753093|PMID:18958194 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1193 MGI:5688755 Rxfp3<tm1Dgen> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:25257104 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1194 MGI:4414758 Myg1<tm1Mphi> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:19818808 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1195 ClinVarVariant:1754 MSH2, DEL 50 CODONS NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8261515|PMID:8539655|PMID:15857188|PMID:21883167|PMID:17587321|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1196 ClinVarVariant:10573 NM_000133.3(F9):c.224G>A (p.Arg75Gln) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2773937|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1197 ClinVarVariant:65758 NM_145239.2(PRRT2):c.649dupC (p.Arg217Profs) NCBITaxon:9606 Homo sapiens NCBIGene:112476 PRRT2 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:23180180|PMID:22101681|PMID:23182655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1198 ClinVarVariant:120269 NM_000277.1(PAH):c.183C>A (p.Asn61Lys) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1199 ClinVarVariant:48674 NM_000492.3(CFTR):c.3587C>G (p.Ser1196Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1200 MGI:3653429 Htr2a<tm1Grch> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006|ECO:0000006|ECO:0000006|ECO:0000006 experimental evidence|experimental evidence|experimental evidence|experimental evidence PMID:16873667|PMID:16873667|PMID:16873667|PMID:16873667 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1201 MGI:2182943 Efna2<tm1Jgf> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:25281279 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1202 ClinVarVariant:53685 NM_000492.3(CFTR):c.3208C>T (p.Arg1070Trp) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12955726|PMID:23974870|PMID:20460946|PMID:7539342|PMID:23891399|PMID:10361400|PMID:25087612|PMID:18951463|PMID:21520337|PMID:7866213|PMID:20171652|PMID:20495477|PMID:21228398|PMID:12796866|PMID:20880762 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1203 MGI:5507829 Ovol1<tm1b(KOMP)Wtsi> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000015|ECO:0000006 mutant phenotype evidence|experimental evidence MGI:5576271 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/impc.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1204 MGI:5775645 Shank3<tm4.1Gfng> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:26687841|PMID:26687841 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1205 ClinVarVariant:48704 NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:12007216 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1206 ClinVarVariant:188854 NM_000295.4(SERPINA1):c.552C>G (p.Tyr184Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:18376109|PMID:3040726|PMID:3878661|PMID:19072562|PMID:23547634|PMID:2481421|PMID:18024524|PMID:18353624 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1207 MGI:5297219 Snap25<tm1Mtaka> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:21949876 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1208 MGI:1888964 Chrna4<tm1Dra> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10964949 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1209 MGI:3815539 Tg(MECP2)1Hzo NCBITaxon:10090 Mus musculus NCBIGene:4204 MECP2 RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006|ECO:0000059 experimental evidence|experimental evidence|experimental phenotypic evidence PMID:22231481|PMID:22231481|PMID:22231481 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1210 ClinVarVariant:10613 NM_000133.3(F9):c.1136G>A (p.Arg379Gln) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:3181127|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1211 ClinVarVariant:10623 NM_000133.3(F9):c.1307C>T (p.Ala436Val) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:2162822|PMID:18700841|PMID:10734657|PMID:3243764|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1212 ClinVarVariant:10603 NM_000133.3(F9):c.892C>T (p.Arg298Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:2929599|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1213 ClinVarVariant:13403 NM_000311.3(PRNP):c.628G>A (p.Val210Ile) NCBITaxon:9606 Homo sapiens NCBIGene:5621 PRNP HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:7902693|PMID:10526198 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1214 MGI:5644306 Baiap3<tm1Smwk> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23698091 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1215 MGI:3526160 Rai1<tm1Jrl> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17517686 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1216 MGI:2449922 Fev<tm1Esd> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:20818386|PMID:12546819 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1217 ClinVarVariant:99943 NM_015384.4(NIPBL):c.7806dupT (p.Asn2603Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1218 ClinVarVariant:189180 NM_000520.5(HEXA):c.570+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:20597919|PMID:16301864|PMID:7749419|PMID:8355954|PMID:10083731|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1219 ClinVarVariant:99923 NM_015384.4(NIPBL):c.192delG (p.Gln64Hisfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1220 ClinVarVariant:196931 NM_015384.4(NIPBL):c.6108+1G>C NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1221 ClinVarVariant:99933 NM_133433.3(NIPBL):c.5456G>A (p.Arg1819Gln) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1222 MGI:2159352 Gabbr1<tm1Bet> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15706241|PMID:15321743 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1223 ClinVarVariant:92225 NM_000133.3(F9):c.278-3A>G NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:19815722|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1224 MGI:5288003 Dcdc2a<tm1.2Jjlo> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21883923 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1225 ClinVarVariant:161998 NM_000492.3(CFTR):c.1117G>A (p.Asp373Asn) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1226 MGI:4315078 Ywhaz<Gt(OST432062)Lex> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22124272 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1227 ClinVarVariant:10593 NM_000133.3(F9):c.682G>T (p.Val228Phe) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2753873|PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1228 ClinVarVariant:10583 F9, TRP194TER NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:19187190|PMID:2743975 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1229 ClinVarVariant:53715 NM_000492.3(CFTR):c.3310G>T (p.Glu1104Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1230 MGI:3043746 Igf2bp1<Gt(OST33739)Lex> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence MGI:3609573 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1231 MGI:1891407 Snord116 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059 experimental phenotypic evidence PMID:18320030 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1232 MGI:3027491 Htr4<tm1Comp> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000304 traceable author statement used in manual assertion PMID:14724239 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1233 MGI:3665323 Grm2<tm1Ddsc> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:15619115 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1234 ClinVarVariant:30606 NM_000520.5(HEXA):c.173G>A (p.Cys58Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:20597919|PMID:21937992|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1235 MGI:2158921 Crem<tm1Saco> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:10570204 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1236 ClinVarVariant:9105 NM_001287174.1(ABCC8):c.4138C>T (p.Arg1380Cys) NCBITaxon:9606 Homo sapiens NCBIGene:6833 ABCC8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2209327|PMID:9428966|PMID:22188726|PMID:22397240|PMID:18025464|PMID:12429356|PMID:16885549 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1237 MGI:4462822 Del(7Slx1b-Sept1)4Aam NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:25698753|PMID:25698753 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1238 ClinVarVariant:10633 F9, EX2-8DEL NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1239 ClinVarVariant:10643 NM_000133.3(F9):c.328G>A (p.Asp110Asn) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:1998585|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1240 MGI:3580575 Nsila9<A/J> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000304 traceable author statement used in manual assertion PMID:15904718 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1241 ClinVarVariant:38480 NM_000492.3(CFTR):c.3067_3072delATAGTG (p.Ile1023_Val1024del) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1242 MGI:2686944 Anxty NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059 experimental phenotypic evidence PMID:12719372 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1243 ClinVarVariant:188954 NM_000520.5(HEXA):c.1528C>T (p.Arg510Ter) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:24518553|PMID:22789865|PMID:696935|PMID:20597919|PMID:16301864|PMID:21567908|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1244 ClinVarVariant:10663 F9, 17747G-A NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:10980527|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1245 MGI:5486475 Tg(Gad1-cre,-lacZ)1Mini NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:23349049|PMID:23349049 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1246 ClinVarVariant:5773 NM_003919.2(SGCE):c.587T>G (p.Leu196Arg) NCBITaxon:9606 Homo sapiens NCBIGene:64921 CASD1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:12391338|PMID:12402271|PMID:12391355|PMID:11523564 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1247 MGI:3773671 Snord116<tm1Uta> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18320030 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1248 MGI:5634956 Fosb<tm1.1Yun> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:21679928|PMID:21679928 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1249 ClinVarVariant:159035 NM_133433.3(NIPBL):c.145G>T (p.Glu49Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1250 ClinVarVariant:159025 NM_015384.4(NIPBL):c.1033_1036delTATG (p.Tyr345Ilefs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1251 ClinVarVariant:10980 NM_001032383.1(PQBP1):c.459_462delAGAG (p.Arg153Serfs) NCBITaxon:9606 Homo sapiens NCBIGene:10084 PQBP1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9599645|PMID:15782410|PMID:11950858|PMID:14634649|PMID:15811016 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1252 ClinVarVariant:53190 NM_000492.3(CFTR):c.1116+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1253 ClinVarVariant:2150 NM_133433.3(NIPBL):c.4606C>T (p.Arg1536Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15318302|PMID:18430761|PMID:17640042|PMID:17845236|PMID:19309268|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1254 MGI:5517362 Nr2c2<tm1Bbm> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23622066 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1255 MGI:1857171 Fos<tm1Pa> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:1423615 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1256 dbSNP:rs10520528 rs10520528-T NCBITaxon:9606 Homo sapiens NCBIGene:55714 TENM3 HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:24058526|PMID:9491171|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1257 ClinVarVariant:102671 NM_000277.1(PAH):c.441+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:22841515|PMID:16256386|PMID:22526846|PMID:8535445|PMID:22112818|PMID:20187763|PMID:23357515|PMID:23764561|PMID:8535445|PMID:17096675|PMID:23430918|PMID:24350308 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1258 ClinVarVariant:53170 NM_000492.3(CFTR):c.1029delC (p.Cys343Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22438829|PMID:15463906|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:9482579|PMID:8947061|PMID:17716958|PMID:12521276|PMID:22658665|PMID:18456578|PMID:10361400|PMID:18782298|PMID:12007216|PMID:22975760 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1259 MGI:5463939 Htr1b<tm1.1(KOMP)Vlcg> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000015|ECO:0000006|ECO:0000015 mutant phenotype evidence|experimental evidence|mutant phenotype evidence MGI:5576271 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/impc.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1260 ClinVarVariant:53805 NM_000492.3(CFTR):c.3761T>G (p.Leu1254Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1261 dbSNP:rs3105491 rs3105491-T NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:24058526|PMID:21099065|PMID:3375880|PMID:21425450|PMID:9491171|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1262 MGI:4442999 Camk4<tm1Tsmi> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20209163 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1263 ClinVarVariant:161134 NM_152296.4(ATP1A3):c.2267G>A (p.Arg756His) NCBITaxon:9606 Homo sapiens NCBIGene:478 ATP1A3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1264 ClinVarVariant:102741 NM_000277.1(PAH):c.580_581delCT (p.Leu194Glufs) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:23672685|PMID:23430918|PMID:12655553 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1265 MGI:5427678 Mc2r<tm1Dgen> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence MGI:2655403 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1266 ClinVarVariant:96352 NM_133433.3(NIPBL):c.7219C>T (p.Arg2407Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18430761|PMID:17640042|PMID:17845236|PMID:19309268|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1267 ClinVarVariant:102751 NM_000277.1(PAH):c.60+5G>T NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:23430918|PMID:8406445|PMID:20188615|PMID:23514811 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1268 MGI:5445923 Dnajc5g<tm1.1(KOMP)Vlcg> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000015|ECO:0000006|ECO:0000015 mutant phenotype evidence|experimental evidence|mutant phenotype evidence MGI:5576271 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/impc.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1269 MGI:5475468 Cdkl5<tm1.1Joez> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23236174 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1270 ClinVarVariant:161154 NM_152296.4(ATP1A3):c.3038_3040dupACT (p.Tyr1013_Ter1014insTyr) NCBITaxon:9606 Homo sapiens NCBIGene:478 ATP1A3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1271 ClinVarVariant:29762 NM_005544.2(IRS1):c.1823C>G (p.Thr608Arg) NCBITaxon:9606 Homo sapiens NCBIGene:3667 IRS1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2209327|PMID:9428966|PMID:22188726|PMID:22397240|PMID:12679424|PMID:12429356 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1272 ClinVarVariant:159065 NM_133433.3(NIPBL):c.2832T>A (p.Tyr944Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1273 ClinVarVariant:54061 NM_000492.3(CFTR):c.79G>T (p.Gly27Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1274 ClinVarVariant:159075 NM_133433.3(NIPBL):c.3122-2A>G NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1275 ClinVarVariant:159045 NM_133433.3(NIPBL):c.206T>C (p.Leu69Pro) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1276 MGI:3629666 Slc6a4<tm1Grch> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:14625138 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1277 MGI:4359176 Arx<tm3Kki> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19605412 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1278 MGI:4443014 Bdnf<tm1Yab> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20130183 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1279 MGI:2176221 Tg(Nes-cre)1Kag NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21849556 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1280 ClinVarVariant:159095 NM_133433.3(NIPBL):c.3818T>G (p.Ile1273Ser) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1281 ClinVarVariant:159145 NM_133433.3(NIPBL):c.5335C>T (p.Arg1779Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1282 ClinVarVariant:159115 NM_133433.3(NIPBL):c.4421G>C (p.Arg1474Thr) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1283 ClinVarVariant:209058 NM_000492.3(CFTR):c.(3468+1_3469-1)_(3717+1_3718-1)del NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1284 ClinVarVariant:127268 NC_000021.7:g.13636378_28138533dup14502156 NCBITaxon:9606 Homo sapiens NCBIGene:9510 ADAMTS1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10730508|PMID:19542627|PMID:19472156|PMID:24691562|PMID:16921174|PMID:15660409|PMID:16369530|PMID:17514358 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1285 ClinVarVariant:67531 NM_000238.3(KCNH2):c.818G>A (p.Arg273Gln) NCBITaxon:9606 Homo sapiens NCBIGene:3757 KCNH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:9172914|PMID:9602186|PMID:17854255|PMID:17210839|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1286 MGI:2387013 Oprd1<tm1Kff> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10835636 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1287 ClinVarVariant:209048 NM_000492.3(CFTR):c.(2988+1_2989-1)_(3468+1_3469-1)del NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1288 ClinVarVariant:159105 NM_133433.3(NIPBL):c.4088-2A>T NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1289 ClinVarVariant:159135 NM_015384.4(NIPBL):c.5174delA (p.Lys1725Serfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1290 ClinVarVariant:14700 NM_000208.3(INSR):c.3572G>A (p.Arg1191Gln) NCBITaxon:9606 Homo sapiens NCBIGene:3643 INSR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2209327|PMID:1607076|PMID:9428966|PMID:22188726|PMID:7814014|PMID:22397240|PMID:12429356 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1291 MGI:5775650 Shank3<tm5.1Gfng> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:26886798|PMID:26886798 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1292 MGI:3850987 Git1<tm1.2Rtp> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19383529 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1293 ClinVarVariant:53925 NM_000492.3(CFTR):c.4231C>T (p.Gln1411Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1294 MGI:4410523 Tg(CMV-RNAi:Pqbp1)1Hiok NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:19661183|PMID:19661183 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1295 MGI:2668659 Neurod6<tm1(cre)Kan> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21885734 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1296 ClinVarVariant:53915 NM_000492.3(CFTR):c.4196_4197delTC (p.Cys1400Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1297 ClinVarVariant:133314 NM_000277.1(PAH):c.781C>G (p.Arg261Gly) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1298 ClinVarVariant:102821 NM_000277.1(PAH):c.745C>T (p.Leu249Phe) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8533759|PMID:1349566|PMID:21871829 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1299 ClinVarVariant:156502 NM_000251.2(MSH2):c.2363_2364delCT (p.Thr788Serfs) NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15943554|PMID:8539655|PMID:23604856|PMID:15857188|PMID:21883167|PMID:19659756|PMID:17587321|PMID:21642682|PMID:18559331|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1300 ClinVarVariant:219160 NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) NCBITaxon:9606 Homo sapiens NCBIGene:7428 VHL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1301 MGI:3528558 Csmd1<tm1Lex> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24244513 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1302 MGI:4356167 Atp1a3<Myk> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22025725 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1303 ClinVarVariant:10303 NM_000132.3(F8):c.6016G>T (p.Glu2006Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:8281136|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1304 ClinVarVariant:75237 NM_002608.3(PDGFB):c.433C>T (p.Gln145Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5155 PDGFB HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:23913003|PMID:21409505 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1305 ClinVarVariant:53455 NM_000492.3(CFTR):c.2215delG (p.Val739Tyrfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1306 MGI:2686951 Hcn1<tm2Kndl> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:14651847 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1307 MGI:4429408 Pitx3<eyl> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20033184 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1308 ClinVarVariant:56270 NM_001042432.1(CLN3):c.461-13G>C NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1309 MGI:5553462 Tg(Prnp-APPSweArc)#Rmni NCBITaxon:10090 Mus musculus NCBIGene:351 APP RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:16876915|PMID:16876915 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1310 ClinVarVariant:56290 NM_001042432.1(CLN3):c.883G>T (p.Glu295Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1311 ClinVarVariant:56280 NM_001042432.1(CLN3):c.558_559delAG (p.Gly187Aspfs) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1312 MGI:3693207 Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas NCBITaxon:10090 Mus musculus NCBIGene:351 APP RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059|ECO:0000006 experimental evidence|experimental phenotypic evidence|experimental evidence PMID:25697701|PMID:25697701|PMID:25697701 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1313 ClinVarVariant:56250 NM_001042432.1(CLN3):c.1195G>T (p.Glu399Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1314 ClinVarVariant:56260 NM_001042432.1(CLN3):c.222+5G>C NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1315 ClinVarVariant:18454 NM_003000.2(SDHB):c.418G>T (p.Val140Phe) NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:490809|PMID:20503330 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1316 ClinVarVariant:53590 NM_000492.3(CFTR):c.2908G>C (p.Gly970Arg) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1317 ClinVarVariant:576 NM_000277.1(PAH):c.1315+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9634518|PMID:3008810|PMID:3615198 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1318 ClinVarVariant:40190 NM_000492.3(CFTR):c.1647T>G (p.Ser549Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1319 ClinVarVariant:53550 NM_000492.3(CFTR):c.2735C>A (p.Ser912Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1320 ClinVarVariant:211656 NM_015384.4(NIPBL):c.6707dupA (p.Asn2236Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1321 MGI:2384136 Ucn<tm1Klee> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:12091910 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1322 ClinVarVariant:92752 NM_000277.1(PAH):c.912+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9634518|PMID:8659548 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1323 MGI:5646427 Tmr10 NCBITaxon:10090 Mus musculus MGI:5646427 Tmr10 RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1324 ClinVarVariant:92742 NM_000277.1(PAH):c.441+5G>T NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:23514811|PMID:9429153 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1325 ClinVarVariant:211666 NM_133433.3(NIPBL):c.8296_8300delATTAAinsTT (p.Ile2766_Lys2767delinsLeu) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1326 ClinVarVariant:211626 NM_015384.4(NIPBL):c.2394_2397dupTGAA (p.Ala800Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1327 ClinVarVariant:67771 NM_198056.2(SCN5A):c.2989G>A (p.Ala997Thr) NCBITaxon:9606 Homo sapiens NCBIGene:6331 SCN5A HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:17854255|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1328 ClinVarVariant:35884 NM_000492.3(CFTR):c.4242+2T>C NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1329 ClinVarVariant:211636 NM_133433.3(NIPBL):c.4495C>T (p.Gln1499Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1330 dbSNP:rs11645366 rs11645366-C NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:21602797 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
1331 MGI:4438230 Tg(HTT*)1Xwy NCBITaxon:10090 Mus musculus NCBIGene:3064 HTT RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:20064390|PMID:20064390 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1332 ClinVarVariant:211646 NM_133433.3(NIPBL):c.5046_5047insTG (p.Asp1683Trpfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1333 ClinVarVariant:35854 NM_000492.3(CFTR):c.2909G>A (p.Gly970Asp) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:11158459|PMID:10361400|PMID:7866213|PMID:20171652|PMID:22483971|PMID:23302613|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1334 MGI:2385631 Tg(APPSWE)2576Kha NCBITaxon:10090 Mus musculus NCBIGene:351 APP RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000006|ECO:0000006 experimental phenotypic evidence|experimental evidence|experimental evidence PMID:16236385|PMID:16260491|PMID:16236385|PMID:16236385 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1335 ClinVarVariant:38497 NM_000492.3(CFTR):c.2657+5G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1336 MGI:5485241 Prkcz<tm1.1Msg> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23283171 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1337 MGI:3803341 Trpm2<tm1Yamo> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:26311765 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1338 ClinVarVariant:596 NM_000277.1(PAH):c.814G>T (p.Gly272Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8370573|PMID:1978553|PMID:1975559|PMID:1671881 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1339 ClinVarVariant:2412 NM_005216.4(DDOST):c.*807_*5409del NCBITaxon:9606 Homo sapiens NCBIGene:100861548 PINK1-AS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15955953 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1340 ClinVarVariant:586 NM_000277.1(PAH):c.1A>G (p.Met1Val) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1301201|PMID:2574002|PMID:1301193|PMID:9634518|PMID:17924342|PMID:1301193|PMID:1609797|PMID:2574002|PMID:9781015 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1341 ClinVarVariant:53162 NM_000492.3(CFTR):c.1007T>A (p.Ile336Lys) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7508414|PMID:10361400|PMID:11180668|PMID:23974870|PMID:23974870|PMID:7866213|PMID:20171652|PMID:18456578|PMID:20495477|PMID:12796866|PMID:7505690|PMID:9272157|PMID:10950058|PMID:23891399 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1342 ClinVarVariant:10982 NM_005710.2(PQBP1):c.640dupC (p.Arg214Profs) NCBITaxon:9606 Homo sapiens NCBIGene:10084 PQBP1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:13981686|PMID:15024694|PMID:15024694|PMID:9545405|PMID:26633545|PMID:9545405 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1343 ClinVarVariant:35864 NM_000492.3(CFTR):c.3140-26A>G NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1344 ClinVarVariant:35834 NM_000492.3(CFTR):c.1911delG (p.Gln637Hisfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1345 ClinVarVariant:7853 NM_002500.4(NEUROD1):c.332G>T (p.Arg111Leu) NCBITaxon:9606 Homo sapiens NCBIGene:4760 NEUROD1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10545951|PMID:2209327|PMID:9428966|PMID:22188726|PMID:22397240|PMID:12429356 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1346 dbSNP:rs1427407 rs1427407-? NCBITaxon:9606 Homo sapiens NCBIGene:53335 BCL11A HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:9491171|PMID:17938043|PMID:25372704 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1347 ClinVarVariant:102538 NM_000277.1(PAH):c.1157A>G (p.Tyr386Cys) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:22841515|PMID:11385716|PMID:11696894|PMID:18493213|PMID:9634518|PMID:23357515|PMID:24368688|PMID:17924342|PMID:23430918|PMID:23074961|PMID:8533759|PMID:24350308|PMID:16198137|PMID:12655553|PMID:10394930|PMID:16765994 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1348 MGI:2673210 Npepps<goku> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10407043 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1349 ClinVarVariant:12785 NM_003000.2(SDHB):c.136C>G (p.Arg46Gly) NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:6829807|PMID:17474956|PMID:14605591|PMID:12000816|PMID:19569019|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1350 ClinVarVariant:3936 NM_000520.5(HEXA):c.1176G>A (p.Trp392Ter) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:20597919|PMID:16301864|PMID:1301958|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1351 MGI:4429408 Pitx3<eyl> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20033184 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1352 ClinVarVariant:102518 NM_000277.1(PAH):c.1089delG (p.Lys363Asnfs) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:20920871|PMID:8659548|PMID:17096675|PMID:19394257|PMID:22513348|PMID:21147011|PMID:9781015|PMID:24048906 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1353 MGI:1857026 Foxq1<sa> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:16109771|PMID:16109771 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1354 ClinVarVariant:3926 HEXA, 2-BP DEL, CODON 310 NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16301864|PMID:8355954|PMID:696935|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1355 ClinVarVariant:621 NM_000277.1(PAH):c.731C>T (p.Pro244Leu) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1363838 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1356 MGI:5516082 Slc6a2<tm1.1Mkh> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23580201 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1357 ClinVarVariant:159037 NM_015384.4(NIPBL):c.1514_1517delGAAA (p.Arg505Asnfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1358 ClinVarVariant:159027 NM_133433.3(NIPBL):c.1057A>T (p.Lys353Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1359 ClinVarVariant:159047 NM_015384.4(NIPBL):c.2107_2108delCC (p.Pro703Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1360 ClinVarVariant:159057 NM_133433.3(NIPBL):c.2489C>G (p.Ser830Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1361 MGI:3707315 Cadps2<tm1Tfr> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17380209 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1362 ClinVarVariant:53887 NM_000492.3(CFTR):c.409delC (p.Leu137Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1363 ClinVarVariant:601 NM_000277.1(PAH):c.1197A>T (p.Val399=) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1997387|PMID:11214902 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1364 ClinVarVariant:10090 F8, EX14DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1643024|PMID:3035554|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1365 ClinVarVariant:611 NM_000277.1(PAH):c.165delT (p.Phe55Leufs) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:23856132|PMID:19394257|PMID:22526846|PMID:21147011|PMID:9781015|PMID:10394930|PMID:1682235|PMID:23500595|PMID:23357515|PMID:24350308|PMID:22513348|PMID:19609714|PMID:12655553|PMID:12655550|PMID:1682235|PMID:24048906|PMID:16198137|PMID:23430918 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1366 ClinVarVariant:53847 NM_000492.3(CFTR):c.3908delA (p.Asn1303Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1367 ClinVarVariant:5775 SGCE, 1-BP DEL, 974C NCBITaxon:9606 Homo sapiens NCBIGene:8910 SGCE HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:12743249 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1368 ClinVarVariant:102588 NM_000277.1(PAH):c.1315+2T>C NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9521426|PMID:9452062 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1369 MGI:2671045 tmgc30 NCBITaxon:10090 Mus musculus MGI:2671045 tmgc30 RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence MGI:2448159 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1370 MGI:5575506 Tg(Prnp-SNAP25/HTT*150Q)8Xjl NCBITaxon:10090 Mus musculus NCBIGene:3064 HTT RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:24081492|PMID:24081492 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1371 ClinVarVariant:35824 NM_000492.3(CFTR):c.14C>T (p.Pro5Leu) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18306312|PMID:7866213|PMID:20171652|PMID:20495477|PMID:21983161|PMID:12796866|PMID:19897426|PMID:17331079|PMID:17235394|PMID:21520337|PMID:10361400|PMID:9439669|PMID:17594398|PMID:17594397|PMID:17137500|PMID:20351101 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1372 ClinVarVariant:159067 NM_015384.4(NIPBL):c.2903delA (p.Asn968Metfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1373 ClinVarVariant:159077 NM_133433.3(NIPBL):c.3305-1G>T NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1374 ClinVarVariant:159097 NM_133433.3(NIPBL):c.3855+1G>T NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1375 MGI:3757650 Arhgef9<tm1.1Betz> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17690689 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1376 ClinVarVariant:31171 NM_145239.2(PRRT2):c.629dupC (p.Ala211Serfs) NCBITaxon:9606 Homo sapiens NCBIGene:112476 PRRT2 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:22243967 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1377 ClinVarVariant:591 NM_000277.1(PAH):c.728G>A (p.Arg243Gln) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:2071149 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1378 ClinVarVariant:581 NM_000277.1(PAH):c.331C>T (p.Arg111Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1975096|PMID:2816939 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1379 MGI:3605006 Efna3<tm1Rax> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:25281279 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1380 MGI:3041622 Axtofd4<L2> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:14990867 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1381 ClinVarVariant:211661 NM_015384.4(NIPBL):c.7816dupA (p.Ile2606Asnfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1382 ClinVarVariant:10625 F9, EX4DEL NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2875754|PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1383 MGI:3605006 Efna3<tm1Rax> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:25281279 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1384 MGI:3664862 Bdnf<tm1Flee> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17023662 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1385 ClinVarVariant:99935 NM_133433.3(NIPBL):c.585C>G (p.Tyr195Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1386 ClinVarVariant:10635 F9, EX5-8DEL NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3029178|PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1387 ClinVarVariant:53797 NM_000492.3(CFTR):c.3731G>A (p.Gly1244Glu) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:23974870|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1388 ClinVarVariant:10605 NM_000133.3(F9):c.998C>T (p.Pro333Leu) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1389 MGI:3513042 Crhbp<tm1Afs> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10500222|PMID:10500222 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1390 ClinVarVariant:10615 NM_000133.3(F9):c.1150C>T (p.Arg384Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2741941|PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1391 ClinVarVariant:53777 NM_000492.3(CFTR):c.3605delA (p.Asp1202Alafs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1392 ClinVarVariant:13405 NM_000311.3(PRNP):c.538G>A (p.Val180Ile) NCBITaxon:9606 Homo sapiens NCBIGene:5621 PRNP HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:14872044|PMID:8461023 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1393 MGI:4363113 Adamts7<tm1a(KOMP)Wtsi> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:25712208 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1394 ClinVarVariant:10665 NM_000133.3(F9):c.1031T>C (p.Ile344Thr) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10942410|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
1395 MGI:4421502 Tg(Ppp1r2-cre)4127Nkza NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19915563 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
1396 MGI:3580548 Nsila8 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059 experimental phenotypic evidence PMID:15904718 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1397 ClinVarVariant:3911 NM_000520.5(HEXA):c.78G>A (p.Trp26Ter) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1833974|PMID:696935|PMID:20597919|PMID:8257995|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1398 MGI:1857736 Cnr1<tm1Map> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:12405999|PMID:15078564|PMID:11823890 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1399 dbSNP:rs9268905 rs9268905-C NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:10361400|PMID:21602797|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1400 MGI:4261988 Sppl3<Gt(OST279815)Lex> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20562862|PMID:20562862 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1401 ClinVarVariant:3901 NM_000520.5(HEXA):c.1260G>C (p.Trp420Cys) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:2144098|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1402 ClinVarVariant:12780 SDHB, 1-BP DEL, 725C NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:11404820|PMID:6829807|PMID:17474956|PMID:14605591|PMID:19569019|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1403 ClinVarVariant:3931 NM_000520.5(HEXA):c.611A>G (p.His204Arg) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8490625|PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1404 ClinVarVariant:37235 VPS13A, TRP435TER NCBITaxon:9606 Homo sapiens NCBIGene:23230 VPS13A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:21598378 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1405 ClinVarVariant:15333 NM_000518.4(HBB):c.20A>T (p.Glu7Val) NCBITaxon:9606 Homo sapiens NCBIGene:3043 HBB HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:21425450|PMID:7993409|PMID:6176866|PMID:20305663|PMID:3690667|PMID:2891298|PMID:2898460|PMID:6268660|PMID:6272289|PMID:16001361|PMID:3375880|PMID:6584911|PMID:81926|PMID:1986365|PMID:13369537|PMID:3752087|PMID:6280057|PMID:17938043|PMID:3354556|PMID:11741197|PMID:3821796|PMID:13464827|PMID:2296310|PMID:11880644|PMID:18048408|PMID:6583683|PMID:9491171|PMID:8462981|PMID:2579336|PMID:11830454|PMID:8199597|PMID:2893541|PMID:13852872|PMID:17774955|PMID:13115700|PMID:18192399|PMID:22075726|PMID:1376298|PMID:6285354|PMID:17287491|PMID:1301203|PMID:4232783|PMID:2898142|PMID:21529713 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1406 MGI:5516082 Slc6a2<tm1.1Mkh> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23580201 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1407 ClinVarVariant:3891 NM_000520.5(HEXA):c.-2564_253+5128delinsG NCBITaxon:9606 Homo sapiens NCBIGene:80072 HEXA-AS1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:2953646|PMID:20597919|PMID:16301864|PMID:2220821|PMID:3754980|PMID:2824459|PMID:8355954|PMID:1577470|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1408 ClinVarVariant:4684 VPS13A, 260-BP DEL NCBITaxon:9606 Homo sapiens NCBIGene:23230 VPS13A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:11381254 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1409 MGI:5587996 Tg(Gpr151-cre)#Ito NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23487260 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1410 MGI:3696979 Tg(Fev-cre)1Esd NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:18695238 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1411 ClinVarVariant:191380 NM_174934.3(SCN4B):c.617C>T (p.Ser206Leu) NCBITaxon:9606 Homo sapiens NCBIGene:6330 SCN4B HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:17854255|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1412 dbSNP:rs12559632 rs12559632-A NCBITaxon:9606 Homo sapiens NCBIGene:5251 PHEX HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:9491171|PMID:17938043|PMID:21326311 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1413 MGI:3041582 Axtofd5<L2> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:14990867 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1414 ClinVarVariant:221280 NM_000520.5(HEXA):c.964G>A (p.Asp322Asn) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16301864|PMID:8355954|PMID:696935|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1415 dbSNP:rs9806762 rs9806762-? NCBITaxon:9606 Homo sapiens NCBIGene:4916 NTRK3 HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:7554686|PMID:22388998|PMID:12581195|PMID:9333269|PMID:23510063 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1416 ClinVarVariant:211631 NM_015384.4(NIPBL):c.314dupA (p.Asn105Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1417 ClinVarVariant:10585 NM_000133.3(F9):c.572G>A (p.Arg191His) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:6603618|PMID:2773937|PMID:2087690|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1418 ClinVarVariant:10565 F9, ARG-1SER NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:3461460|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1419 ClinVarVariant:1756 NM_000251.2(MSH2):c.1915C>T (p.His639Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8539655|PMID:15857188|PMID:21883167|PMID:8261515|PMID:17587321|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1420 ClinVarVariant:10575 F9, IVS3DS, T-G NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1421 ClinVarVariant:10655 F9, 17747G-C NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:10980527|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1422 ClinVarVariant:10595 NM_000133.3(F9):c.709C>T (p.Gln237Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1423 ClinVarVariant:60700 NM_007262.4(PARK7):c.-24+75_-24+92dup NCBITaxon:9606 Homo sapiens NCBIGene:11315 PARK7 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16240358 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1424 ClinVarVariant:2409 NM_032409.2(PINK1):c.1570_1573dupTTAG (p.Asp525Valfs) NCBITaxon:9606 Homo sapiens NCBIGene:100861548 PINK1-AS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15349871 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1425 ClinVarVariant:197125 NM_000277.1(PAH):c.357delC (p.Trp120Glyfs) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1426 MGI:2682061 Ext1<tm1Yama> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22411800 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1427 MGI:3848928 Dlg4<tm2.1Grnt> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:20952458 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1428 ClinVarVariant:209063 NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del(1584+1_1585-1)_(3468+1_3469-1)del NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1429 ClinVarVariant:159120 NM_015384.4(NIPBL):c.456delC (p.Ser153Alafs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1430 ClinVarVariant:7155 NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:1284639|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1431 ClinVarVariant:7145 NM_000492.3(CFTR):c.720_741del22 (p.Gly241Glufs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:1374361|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1432 ClinVarVariant:67013 NM_000218.2(KCNQ1):c.1135T>C (p.Trp379Arg) NCBITaxon:9606 Homo sapiens NCBIGene:3784 KCNQ1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:22677073|PMID:9172914|PMID:9602186|PMID:17854255|PMID:22796196|PMID:17222736 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1433 ClinVarVariant:7135 NM_000492.3(CFTR):c.1081delT (p.Trp361Glyfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:1990834|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1434 MGI:2684825 Bace1<tm1Cdi> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:14664815 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1435 ClinVarVariant:10345 F8, EX18-19DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2887317|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1436 ClinVarVariant:7125 NM_000492.3(CFTR):c.3764C>A (p.Ser1255Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:2233965|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1437 ClinVarVariant:10335 F8, EX1-6DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:2125022 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1438 ClinVarVariant:7115 NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1377276|PMID:7866213|PMID:20171652|PMID:2135388|PMID:20495477|PMID:12796866|PMID:9056552|PMID:23974870|PMID:10361400|PMID:8528204|PMID:2236053|PMID:9164051 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1439 ClinVarVariant:159190 NM_015384.4(NIPBL):c.6362_6364delAAA (p.Lys2121del) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1440 ClinVarVariant:4662 NM_015074.3(KIF1B):c.4442G>A (p.Ser1481Asn) NCBITaxon:9606 Homo sapiens NCBIGene:23095 KIF1B HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18726616|PMID:6829807|PMID:17474956|PMID:18334619|PMID:14605591|PMID:19569019|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1441 ClinVarVariant:92729 NM_000277.1(PAH):c.1068C>A (p.Tyr356Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:7915167|PMID:20140859|PMID:10471838|PMID:21811977|PMID:8831077|PMID:21462123|PMID:1349576|PMID:7915167|PMID:16256386|PMID:19147918 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1442 ClinVarVariant:10325 NM_000132.3(F8):c.6682C>G (p.Arg2228Gly) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:7728145|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1443 ClinVarVariant:7105 NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9439669|PMID:18507830|PMID:23974870|PMID:2570460|PMID:7866213|PMID:2475911|PMID:1377276|PMID:1756602|PMID:20595578|PMID:23974870|PMID:2210767|PMID:2236053|PMID:2220803|PMID:15367919|PMID:25981758|PMID:1997384|PMID:17692578|PMID:22981120|PMID:11280952|PMID:7537148|PMID:1536179|PMID:1384321|PMID:1673094|PMID:20171652|PMID:20495477|PMID:12796866|PMID:1937486|PMID:1370875|PMID:9135274|PMID:10361400|PMID:1381146|PMID:20705837|PMID:2300168 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1444 ClinVarVariant:10315 NM_000132.3(F8):c.6506G>A (p.Arg2169His) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:1671991|PMID:10734657|PMID:17498080|PMID:15357786|PMID:6438527|PMID:1301932|PMID:1301960|PMID:1908096|PMID:2378544|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1445 ClinVarVariant:30555 WFS1, LYS836ASN NCBITaxon:9606 Homo sapiens NCBIGene:7466 WFS1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:20069065 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1446 ClinVarVariant:10305 NM_000132.3(F8):c.6113A>G (p.Asn2038Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:7728145|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
1447 MGI:2177174 Tg(Eno2-cre)39Jme NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16675393 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1448 ClinVarVariant:75239 NM_002608.3(PDGFB):c.356T>C (p.Leu119Pro) NCBITaxon:9606 Homo sapiens NCBIGene:5155 PDGFB HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:23913003 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1449 ClinVarVariant:7215 NM_000492.3(CFTR):c.3700A>G (p.Ile1234Val) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:7504969 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1450 MGI:5644306 Baiap3<tm1Smwk> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23698091 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1451 ClinVarVariant:53587 NM_000492.3(CFTR):c.2896delA (p.Thr966Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1452 ClinVarVariant:7235 NM_000492.3(CFTR):c.19G>T (p.Glu7Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12833420|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1453 MGI:1857212 Ldlr<tm1Her> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16236385 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1454 ClinVarVariant:56267 NM_001042432.1(CLN3):c.379delC (p.Arg127Glyfs) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1455 ClinVarVariant:56257 NM_001042432.1(CLN3):c.1A>C (p.Met1Leu) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1456 ClinVarVariant:7225 NM_000492.3(CFTR):c.1658G>A (p.Arg553Gln) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9017943|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:1715308|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
1457 MGI:2182765 Tg(CAG-cre/Esr1*)5Amc NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:23141534|PMID:23141534 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1458 ClinVarVariant:92044 NM_002501.3(NFIX):c.716C>G (p.Ser239Ter) NCBITaxon:9606 Homo sapiens NCBIGene:4784 NFIX HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:24375697 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1459 MGI:2386761 Esr2<tm1Mma> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:11593044 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1460 MGI:3522476 Als2<tm1Cai> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16107644|PMID:16107644 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1461 ClinVarVariant:159150 NM_133433.3(NIPBL):c.5455C>T (p.Arg1819Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1462 ClinVarVariant:53667 NM_000492.3(CFTR):c.3160C>G (p.His1054Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1463 ClinVarVariant:159210 NM_133433.3(NIPBL):c.6892C>T (p.Arg2298Cys) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1464 ClinVarVariant:56247 NM_001042432.1(CLN3):c.1056+3A>C NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1465 ClinVarVariant:36580 NM_000251.2(MSH2):c.942+3A>T NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19419416|PMID:8539655|PMID:16451135|PMID:15857188|PMID:21883167|PMID:17587321|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1466 MGI:2446434 En1<tm2(cre)Wrst> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19679071 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1467 ClinVarVariant:56277 NM_001042432.1(CLN3):c.509T>C (p.Leu170Pro) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1468 MGI:3603141 Bace1<tm1Psa> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:15987683 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1469 ClinVarVariant:189248 NM_019026.4(TMCO1):c.240_243delGGTT (p.Val81Thrfs) NCBITaxon:9606 Homo sapiens NCBIGene:54499 TMCO1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:24194475|PMID:20018682|PMID:24424126|PMID:23320496 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1470 ClinVarVariant:88739 NM_019026.4(TMCO1):c.412C>T (p.Arg138Ter) NCBITaxon:9606 Homo sapiens NCBIGene:54499 TMCO1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:23320496|PMID:24194475|PMID:17351359 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1471 ClinVarVariant:159140 NM_133433.3(NIPBL):c.5327A>T (p.Gln1776Leu) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1472 ClinVarVariant:162090 NM_183357.2(ADCY5):c.1252C>T (p.Arg418Trp) NCBITaxon:9606 Homo sapiens NCBIGene:111 ADCY5 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:11310626|PMID:24700542 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1473 ClinVarVariant:100730 NM_000520.5(HEXA):c.718_719insT (p.Lys240Ilefs) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16301864|PMID:8355954|PMID:696935|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1474 ClinVarVariant:209053 NM_000492.3(CFTR):c.(743+1_744-1)_(1584+1_1585-1)dup NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1475 ClinVarVariant:159230 NM_015384.4(NIPBL):c.7439_7440delGA (p.Arg2480Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1476 ClinVarVariant:159220 NM_133433.3(NIPBL):c.7102C>T (p.Gln2368Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1477 MGI:5297824 Lrrc7<tm1.1Mabk> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:22072671 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1478 ClinVarVariant:56287 NM_001042432.1(CLN3):c.622dupT (p.Ser208Phefs) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1479 MGI:3510602 Tg(Thy1-APP<SL>)28Lpr NCBITaxon:10090 Mus musculus NCBIGene:351 APP RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:18184372|PMID:18184372 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1480 ClinVarVariant:31176 NM_145239.2(PRRT2):c.487C>T (p.Gln163Ter) NCBITaxon:9606 Homo sapiens NCBIGene:112476 PRRT2 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:22120146 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1481 ClinVarVariant:53690 NM_000492.3(CFTR):c.3230T>C (p.Leu1077Pro) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1482 ClinVarVariant:10300 NM_000132.3(F8):c.5953C>T (p.Arg1985Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:8307558|PMID:8485051|PMID:8054459|PMID:10734657|PMID:17498080|PMID:8281136|PMID:15357786|PMID:2378544|PMID:1349567 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1483 ClinVarVariant:10350 F8, 1-BP DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:11110718 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1484 ClinVarVariant:7150 NM_000492.3(CFTR):c.1558G>T (p.Val520Phe) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:1284466 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1485 MGI:3762883 Slc12a5<tm1Hsav> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15813942 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1486 ClinVarVariant:1483 NM_000190.3(HMBS):c.849G>A (p.Trp283Ter) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:7962538|PMID:12566739 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1487 ClinVarVariant:159100 NM_015384.4(NIPBL):c.3866_3869delCTGA (p.Thr1289Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1488 MGI:3611335 Gria2<tm3Rsp> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:16216087|PMID:16099814 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1489 MGI:2447863 Gjb6<tm1Kwi> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:12911759 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1490 ClinVarVariant:53930 NM_000492.3(CFTR):c.4242+1G>T NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23276700|PMID:25087612|PMID:10361400|PMID:18456578|PMID:7682196|PMID:7866213|PMID:20171652|PMID:20495477|PMID:7521710|PMID:12796866|PMID:18687795|PMID:20932301 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1491 ClinVarVariant:7185 NM_000492.3(CFTR):c.2175dupA (p.Glu726Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7686423|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1492 ClinVarVariant:208181 NM_000277.1(PAH):c.836C>T (p.Pro279Leu) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1493 ClinVarVariant:7175 NM_000492.3(CFTR):c.2490+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20059485|PMID:7683952|PMID:10361400|PMID:7683952|PMID:7866213|PMID:20171652|PMID:23974870|PMID:20495477|PMID:23974870|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1494 MGI:4421502 Tg(Ppp1r2-cre)4127Nkza NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:19915563 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1495 ClinVarVariant:7230 NM_000492.3(CFTR):c.3492dupT (p.Lys1165Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10869121|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1496 ClinVarVariant:7240 NM_000492.3(CFTR):c.1682C>A (p.Ala561Glu) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:14623323|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1497 ClinVarVariant:18456 SDHB, 20.3-KB DEL, EX1 NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:18057081 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1498 ClinVarVariant:56272 NM_001042432.1(CLN3):c.461-1G>C NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1499 ClinVarVariant:53552 NM_000492.3(CFTR):c.2739T>A (p.Tyr913Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1500 ClinVarVariant:53522 NM_000492.3(CFTR):c.2601dupA (p.Val868Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1501 ClinVarVariant:92734 NM_000277.1(PAH):c.165T>G (p.Phe55Leu) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9521426|PMID:9634518|PMID:18538294|PMID:12655553|PMID:9298832|PMID:18299955|PMID:23932990|PMID:17924342|PMID:12501224|PMID:11678552|PMID:24350308|PMID:23430918 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1502 ClinVarVariant:56282 NM_001042432.1(CLN3):c.565G>C (p.Gly189Arg) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1503 MGI:1861932 Gt(ROSA)26Sor<tm1Sor> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:18832146 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1504 MGI:5549960 Atat1<tm1.2Phep> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23748901 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1505 ClinVarVariant:56252 NM_001042432.1(CLN3):c.1247A>G (p.Asp416Gly) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1506 ClinVarVariant:56262 NM_001042432.1(CLN3):c.265C>T (p.Arg89Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1507 MGI:3775204 S100a10<tm1Pggd> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:16400147 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1508 ClinVarVariant:92744 NM_000277.1(PAH):c.508C>G (p.His170Asp) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1509 MGI:2176186 Tg(Zp3-cre)93Knw NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18320030 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1510 ClinVarVariant:92754 NM_000277.1(PAH):c.955G>T (p.Glu319Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1511 ClinVarVariant:578 NM_000277.1(PAH):c.932T>C (p.Leu311Pro) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9634518|PMID:18590700|PMID:15464430|PMID:10394930|PMID:8981952|PMID:2840952|PMID:17924342|PMID:19062537|PMID:21953985|PMID:2840952|PMID:22841515|PMID:23842451|PMID:21871829|PMID:17935162|PMID:12655553|PMID:19609714 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1512 ClinVarVariant:2404 NM_032409.2(PINK1):c.926G>A (p.Gly309Asp) NCBITaxon:9606 Homo sapiens NCBIGene:100861548 PINK1-AS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15087508|PMID:16207731|PMID:18003639 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1513 MGI:5638435 Slc12a5<tm2Hsav> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15813942 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1514 MGI:2679626 Cplx2<tm1Rmnd> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:12915444 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1515 ClinVarVariant:628 NM_000277.1(PAH):c.1139C>T (p.Thr380Met) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:21307867|PMID:8268925|PMID:11385716|PMID:21147011|PMID:10693064|PMID:16198137|PMID:22698810|PMID:18299955|PMID:12655553|PMID:24350308|PMID:9298832|PMID:9634518|PMID:17924342|PMID:24368688|PMID:23932990|PMID:23500595|PMID:14722928|PMID:18294361|PMID:23357515|PMID:8533759 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1516 ClinVarVariant:53622 NM_000492.3(CFTR):c.2T>C (p.Met1Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16596947|PMID:10361400|PMID:16436643|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:22299590 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1517 MGI:3573902 Aaj2 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059 experimental phenotypic evidence PMID:15371360 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1518 ClinVarVariant:10097 NM_000132.3(F8):c.601+1632G>A NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:2833855 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1519 ClinVarVariant:618 NM_000277.1(PAH):c.916A>G (p.Ile306Val) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:23357515|PMID:18299955|PMID:1358789|PMID:11678552|PMID:15171997|PMID:23792259|PMID:22526846|PMID:23430918|PMID:16879198|PMID:9634518|PMID:18590700|PMID:19444284|PMID:23764561|PMID:24350308|PMID:19062537|PMID:12655553|PMID:19292873|PMID:19394257 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1520 MGI:3709406 Tg(Camk2a-Bdnf)A9Stl NCBITaxon:10090 Mus musculus NCBIGene:24225 Bdnf RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:24768643|PMID:24768643 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1521 ClinVarVariant:48681 NM_000492.3(CFTR):c.1680-1G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1522 ClinVarVariant:56292 NM_001042432.1(CLN3):c.944dupA (p.His315Glnfs) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1523 ClinVarVariant:2414 NM_032409.2(PINK1):c.650C>A (p.Ala217Asp) NCBITaxon:9606 Homo sapiens NCBIGene:102464833 MIR6084 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16966503 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1524 ClinVarVariant:588 NM_000277.1(PAH):c.727C>T (p.Arg243Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:2309142|PMID:2309142 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1525 ClinVarVariant:7210 NM_000492.3(CFTR):c.3254A>G (p.His1085Arg) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10517260|PMID:23891399|PMID:8702904|PMID:8662892|PMID:10515411|PMID:7866213|PMID:20171652|PMID:20495477|PMID:7504969|PMID:12796866|PMID:7683628|PMID:20110398|PMID:7504969|PMID:10923036|PMID:10361400|PMID:17331079|PMID:15141088|PMID:11180668|PMID:18456578 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1526 ClinVarVariant:598 NM_000277.1(PAH):c.818C>T (p.Ser273Phe) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1671881 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1527 ClinVarVariant:7220 NM_000492.3(CFTR):c.2291delG (p.Arg764Glnfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:7524910 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1528 ClinVarVariant:10087 F8, EX26DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2987704|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1529 ClinVarVariant:608 NM_000277.1(PAH):c.143T>C (p.Leu48Ser) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16879198|PMID:1679030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1530 MGI:3822008 Vnhv2<C57BL/6J> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000304 traceable author statement used in manual assertion PMID:18721828 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1531 ClinVarVariant:120266 NM_000277.1(PAH):c.164T>C (p.Phe55Ser) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1532 ClinVarVariant:7120 NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22318583|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:12007216|PMID:1695717|PMID:10361400|PMID:1678049|PMID:1379413|PMID:1999830|PMID:22047557|PMID:8605891 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1533 ClinVarVariant:53492 NM_000492.3(CFTR):c.2464G>T (p.Glu822Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1534 ClinVarVariant:10330 NM_000132.3(F8):c.6865C>T (p.Gln2289Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1535 MGI:3692442 Rgs9<tm1(cre)Yql> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24784230 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1536 ClinVarVariant:10340 F8, EX10DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1643024|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1537 ClinVarVariant:7140 NM_000492.3(CFTR):c.1545_1546delTA (p.Tyr515Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1710601|PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1538 MGI:5574216 Grin1<tm1Jjwd> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:24244696 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1539 ClinVarVariant:10310 NM_000132.3(F8):c.6371A>G (p.Tyr2124Cys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:8281136|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:6438527 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1540 ClinVarVariant:7110 NM_000492.3(CFTR):c.1040G>C (p.Arg347Pro) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:2344617 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1541 ClinVarVariant:3908 NM_000520.5(HEXA):c.629C>T (p.Ser210Phe) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1837283|PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1542 ClinVarVariant:10320 NM_000132.3(F8):c.6545G>A (p.Arg2182His) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1543 ClinVarVariant:3918 HEXA, 1-BP INS NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1301190|PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1544 ClinVarVariant:120296 NM_000277.1(PAH):c.916delA (p.Ile306Leufs) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1545 ClinVarVariant:10979 NM_001032383.1(PQBP1):c.461_462dupAG (p.Arg155Serfs) NCBITaxon:9606 Homo sapiens NCBIGene:10084 PQBP1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:3177467|PMID:14634649 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1546 ClinVarVariant:120286 NM_000277.1(PAH):c.796A>C (p.Thr266Pro) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1547 ClinVarVariant:120276 NM_000277.1(PAH):c.442-2A>C NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1548 ClinVarVariant:53352 NM_000492.3(CFTR):c.1705T>G (p.Tyr569Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1549 MGI:2179191 Tbx1<tm1Bem> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:21908517|PMID:15084464|PMID:11239417|PMID:12413905 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1550 ClinVarVariant:35886 NM_000492.3(CFTR):c.4280T>C (p.Ile1427Thr) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1551 ClinVarVariant:7190 NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8522333|PMID:15776432|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:7691344|PMID:21520337|PMID:23974870|PMID:12796866|PMID:7545869|PMID:7691344 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1552 MGI:2154522 App<tm1Cwe> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:17634375|PMID:8001115 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1553 ClinVarVariant:14912 NM_002112.3(HDC):c.951G>A (p.Trp317Ter) NCBITaxon:9606 Homo sapiens NCBIGene:3067 HDC HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8425124|PMID:1564054|PMID:20445167|PMID:23418216|PMID:8173824|PMID:24411733|PMID:20063404 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1554 ClinVarVariant:7180 NM_000492.3(CFTR):c.3937C>T (p.Gln1313Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7683952|PMID:22658665|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:23974870|PMID:15698946|PMID:7683952|PMID:12796866|PMID:23974870|PMID:17331079 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1555 ClinVarVariant:10250 NM_000132.3(F8):c.2962_2963delAG (p.Ser988Trpfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:8307558 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1556 ClinVarVariant:10260 F8, 1-BP INS, A NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:1908096|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1557 ClinVarVariant:10220 NM_000132.3(F8):c.1596dupG (p.Thr533Aspfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1639429|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1558 MGI:3057146 Tg(PDGFB-APPSwInd)20Lms NCBITaxon:10090 Mus musculus NCBIGene:351 APP RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059|ECO:0000006|ECO:0000006 experimental evidence|experimental phenotypic evidence|experimental evidence|experimental evidence PMID:18931664|PMID:18931664|PMID:24504480|PMID:10818140|PMID:18931664|PMID:18931664 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1559 ClinVarVariant:211638 NM_015384.4(NIPBL):c.4532_4533delCT (p.Ser1511Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1560 MGI:2653694 Tnf<tm1Sek> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11063830 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1561 MGI:3697454 Apba2<tm1Tsuz> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19420255 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1562 ClinVarVariant:211628 NM_133433.3(NIPBL):c.2521C>T (p.Arg841Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1563 MGI:5563140 Stx1a<tm1Migar> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:24136198 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1564 ClinVarVariant:10240 NM_000132.3(F8):c.1957G>A (p.Val653Met) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:8449505|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1565 ClinVarVariant:35846 NM_000492.3(CFTR):c.273+3A>C NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1566 MGI:5317121 Del(5Limk1-Trim50)2Uta NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20049703 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1567 ClinVarVariant:9972 FMR1, (CGG)n EXPANSION NCBITaxon:9606 Homo sapiens NCBIGene:2332 FMR1 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:10208170|PMID:1675488|PMID:9719368|PMID:11445641|PMID:1605193 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1568 ClinVarVariant:9597 m.3290T>C NCBITaxon:9606 Homo sapiens NCBIGene:4567 TRNL1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:9172914|PMID:9602186|PMID:17854255|PMID:10519336|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1569 ClinVarVariant:35836 NM_000492.3(CFTR):c.2012delT (p.Leu671Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:23974870|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1570 ClinVarVariant:35866 NM_000492.3(CFTR):c.3209G>A (p.Arg1070Gln) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7683628|PMID:8662892|PMID:12955726|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:18951463|PMID:12955726|PMID:7683628|PMID:8702904|PMID:10361400|PMID:18951463|PMID:23974870|PMID:11242048 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1571 ClinVarVariant:6894 NM_003002.3(SDHD):c.52+2T>G NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:11156372 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1572 ClinVarVariant:10230 NM_000132.3(F8):c.1750C>A (p.Gln584Lys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1924291|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1573 ClinVarVariant:10200 NM_000132.3(F8):c.1026T>A (p.Tyr342Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8307558|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:6438527 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1574 MGI:4418563 Ehmt1<tm1.1Tara> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20005824 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1575 ClinVarVariant:219292 NM_000249.3(MLH1):c.2263A>G (p.Arg755Gly) NCBITaxon:9606 Homo sapiens NCBIGene:4292 MLH1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1576 ClinVarVariant:10210 NM_000132.3(F8):c.1293G>T (p.Leu431Phe) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:1924291 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1577 ClinVarVariant:53372 NM_000492.3(CFTR):c.175dupA (p.Arg59Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1578 ClinVarVariant:13911 NM_020630.4(RET):c.1901G>T (p.Cys634Phe) NCBITaxon:9606 Homo sapiens NCBIGene:5979 RET HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8099202|PMID:12000816|PMID:6829807|PMID:7915165|PMID:17474956|PMID:14605591|PMID:19569019|PMID:3078962|PMID:1576030|PMID:7907913 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1579 ClinVarVariant:1453 NM_000190.3(HMBS):c.593G>A (p.Trp198Ter) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1961762 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1580 MGI:4418521 Psap<tm3.1Ggb> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20015957 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1581 ClinVarVariant:1463 HMBS, 2-BP DEL, 218AG NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8270254 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1582 ClinVarVariant:180192 NM_015384.4(NIPBL):c.65-3T>G NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1583 ClinVarVariant:1473 NM_000190.3(HMBS):c.755C>T (p.Ala252Val) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8262523 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1584 ClinVarVariant:6914 SDHD, 96-KB DEL NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:15531530 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1585 ClinVarVariant:211648 NM_015384.4(NIPBL):c.5679dupT (p.Arg1894Serfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1586 MGI:2137555 Mecp2<tm1Bird> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:18321864 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1587 ClinVarVariant:211658 NM_015384.4(NIPBL):c.6811dupT (p.Ser2271Phefs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1588 ClinVarVariant:225133 NM_000277.1(PAH):c.110T>C (p.Leu37Pro) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1589 MGI:2388099 Sstr2<tm1Rgs> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11029646 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1590 MGI:3610995 Gabbr2<tm1Bet> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15706241 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1591 MGI:5752293 Nlrp6<tm1Opaz> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20923861 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1592 ClinVarVariant:7160 NM_000492.3(CFTR):c.3873+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1284639|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:23974870|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1593 ClinVarVariant:12787 NM_003000.2(SDHB):c.395A>C (p.His132Pro) NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:14715873 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1594 MGI:3768527 Mapt<tm1(MAPT)Vln> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:17341679 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1595 ClinVarVariant:7170 NM_000492.3(CFTR):c.744-14_744-3delTGATTGATTTAC NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:7683952|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1596 ClinVarVariant:9970 FMR1, 1-BP DEL, 373A NCBITaxon:9606 Homo sapiens NCBIGene:2332 FMR1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18297385|PMID:16176388|PMID:14994287|PMID:19429055|PMID:10972251|PMID:7670500 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1597 ClinVarVariant:10270 NM_000132.3(F8):c.5305G>A (p.Gly1769Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:7728145|PMID:10734657|PMID:17498080|PMID:6438527|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1598 MGI:5515454 M1073b NCBITaxon:10090 Mus musculus MGI:5515454 M1073b MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16109771 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1599 ClinVarVariant:156504 NM_000251.2(MSH2):c.2304delA (p.Glu768Aspfs) NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16451135|PMID:8539655|PMID:15857188|PMID:21883167|PMID:17587321|PMID:22773173|PMID:24362816 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1600 ClinVarVariant:53212 NM_000492.3(CFTR):c.1202G>A (p.Trp401Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1601 MGI:3604469 Kcnh5<tm1Dgen> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence MGI:3604450 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1602 ClinVarVariant:53222 NM_000492.3(CFTR):c.1240C>T (p.Gln414Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1603 ClinVarVariant:219152 NM_003000.2(SDHB):c.338G>C (p.Cys113Ser) NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1604 MGI:5298021 Gria4<tm1Yfkk> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20662939 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1605 MGI:2448275 tmgc10 NCBITaxon:10090 Mus musculus MGI:2448275 tmgc10 RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence MGI:2448159 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1606 ClinVarVariant:96344 NM_015384.4(NIPBL):c.5440C>T (p.Arg1814Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18430761|PMID:17640042|PMID:17845236|PMID:19309268|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1607 ClinVarVariant:161146 NM_152296.4(ATP1A3):c.2600G>A (p.Gly867Asp) NCBITaxon:9606 Homo sapiens NCBIGene:478 ATP1A3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1608 ClinVarVariant:53282 NM_000492.3(CFTR):c.1573C>T (p.Gln525Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1609 ClinVarVariant:10100 F8, EX2-3DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2833855|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:3131627 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1610 MGI:5607312 Hprt<tm5(Camk2a-BACE1)Geno> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:25100603|PMID:25100603 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1611 ClinVarVariant:18106 NM_000484.3(APP):c.2018C>T (p.Ala673Val) NCBITaxon:9606 Homo sapiens NCBIGene:351 APP HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10730508|PMID:19286555|PMID:19542627|PMID:19472156|PMID:11735772|PMID:15660409|PMID:17514358 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1612 ClinVarVariant:10110 NM_000132.3(F8):c.5879G>A (p.Arg1960Gln) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:2110545 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1613 MGI:5634328 Tg(Eno2-APP*Ind)#Kakiz NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:24489866|PMID:24489866 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1614 MGI:5505780 Grin2b<tm1.1Nhk> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23201971 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1615 MGI:5646421 Mbt3 NCBITaxon:10090 Mus musculus MGI:5646421 Mbt3 RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
1616 MGI:3718452 Tg(SOD1)51Yg NCBITaxon:10090 Mus musculus NCBIGene:6647 SOD1 MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15016076 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1617 ClinVarVariant:53312 NM_000492.3(CFTR):c.1648G>T (p.Gly550Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1618 ClinVarVariant:90835 NM_000251.2(MSH2):c.2005+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1619 MGI:2181427 Pla2g4a<tm1Jvb> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:18931664|PMID:18931664 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1620 ClinVarVariant:159227 NM_015384.4(NIPBL):c.7336_7338delCCG (p.Pro2446del) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
1621 MGI:2447591 Tg(APP)8.9Btla NCBITaxon:10090 Mus musculus NCBIGene:351 APP MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15016076 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1622 ClinVarVariant:10290 NM_000132.3(F8):c.5622dupT (p.Leu1875Serfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1623 ClinVarVariant:159217 NM_133433.3(NIPBL):c.7012G>C (p.Ala2338Pro) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1624 ClinVarVariant:10280 NM_000132.3(F8):c.5526G>A (p.Met1842Ile) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:8307558|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1625 ClinVarVariant:159207 NM_015384.4(NIPBL):c.6653_6655delATA (p.Asn2218del) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1626 ClinVarVariant:12914 NM_152296.4(ATP1A3):c.2401G>T (p.Asp801Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:478 ATP1A3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15260953|PMID:9109901 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1627 MGI:2183146 Tsc1<tm1Hin> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23250422 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1628 ClinVarVariant:1443 NM_000190.3(HMBS):c.77G>A (p.Arg26His) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8401516 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
1629 MGI:4819832 Tg(tetO-MAPT*P301L)#Kha NCBITaxon:10090 Mus musculus NCBIGene:4137 MAPT MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24503275 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1630 ClinVarVariant:126962 NM_017849.3(TMEM127):c.116_119delTGTC (p.Ile41Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:55654 TMEM127 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1631 MGI:4459814 Pcsk1n<tm1Jep> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20367757 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1632 ClinVarVariant:3898 NM_000520.5(HEXA):c.805G>A (p.Gly269Ser) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2522679|PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1633 ClinVarVariant:8488 NM_001127221.1(CACNA1A):c.1997C>T (p.Thr666Met) NCBITaxon:9606 Homo sapiens NCBIGene:773 CACNA1A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:10987655|PMID:8898206|PMID:15795222|PMID:9915947|PMID:12056940|PMID:12756131 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1634 ClinVarVariant:159197 NM_133433.3(NIPBL):c.6565C>T (p.Gln2189Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1635 MGI:2448952 Tg(tetO-cre)LC1Bjd NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19081379 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1636 ClinVarVariant:159167 NM_133433.3(NIPBL):c.598C>T (p.Gln200Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1637 ClinVarVariant:159157 NM_133433.3(NIPBL):c.5709+2T>G NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1638 ClinVarVariant:2142 NIPBL, 1-BP INS, 7306G NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18430761|PMID:17640042|PMID:15146185|PMID:17845236|PMID:19309268|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1639 MGI:3815538 Tg(MECP2)3Hzo NCBITaxon:10090 Mus musculus NCBIGene:4204 MECP2 RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:22231481|PMID:22231481 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1640 ClinVarVariant:10130 F8, EX15-18DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:2835307|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1641 ClinVarVariant:10170 NM_000132.3(F8):c.388G>C (p.Gly130Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:6438527|PMID:8307558|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1642 ClinVarVariant:10160 NM_000132.3(F8):c.364_365delGT (p.Val122Ilefs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:7728145|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1643 ClinVarVariant:10140 NM_000132.3(F8):c.5821A>G (p.Asn1941Asp) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:2106480 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1644 ClinVarVariant:53947 NM_000492.3(CFTR):c.4426C>T (p.Gln1476Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1645 ClinVarVariant:159177 NM_133433.3(NIPBL):c.6158T>C (p.Leu2053Pro) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1646 ClinVarVariant:10190 NM_000132.3(F8):c.881C>T (p.Thr294Ile) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1647 MGI:5085894 Emc10<Gt(OST181617)Lex> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20562862|MGI:3510987 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1648 ClinVarVariant:10180 NM_000132.3(F8):c.670G>T (p.Gly224Trp) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:1924291|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1649 ClinVarVariant:159107 NM_015384.4(NIPBL):c.4143_4144delAG (p.Arg1381Serfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1650 ClinVarVariant:159147 NM_133433.3(NIPBL):c.5365C>T (p.Arg1789Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1651 MGI:2445786 Tg(Prnp-tTA)F959Sbp NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006|ECO:0000006 experimental evidence|experimental evidence|experimental evidence PMID:19666958|PMID:19666958|PMID:19666958 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1652 ClinVarVariant:159127 NM_133433.3(NIPBL):c.4712C>A (p.Ser1571Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1653 ClinVarVariant:102803 NM_000277.1(PAH):c.721C>T (p.Arg241Cys) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:17935162|PMID:8222245|PMID:14722928|PMID:10484807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1654 ClinVarVariant:53509 NM_000492.3(CFTR):c.2547C>A (p.Tyr849Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1655 MGI:5521184 Tg(Thy1-Tcf4)1Mjro NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:20434134|PMID:20434134 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1656 ClinVarVariant:16158 NM_001018077.1(NR3C1):c.2209T>C (p.Phe737Leu) NCBITaxon:9606 Homo sapiens NCBIGene:2908 NR3C1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:17635946 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1657 ClinVarVariant:161156 NM_152296.4(ATP1A3):c.1144T>C (p.Trp382Arg) NCBITaxon:9606 Homo sapiens NCBIGene:478 ATP1A3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1658 ClinVarVariant:16148 NM_000176.2(NR3C1):c.1891_1892+2delGAGT NCBITaxon:9606 Homo sapiens NCBIGene:2908 NR3C1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8863343 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1659 ClinVarVariant:53242 NM_000492.3(CFTR):c.1393-1G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7682196|PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:23933162|PMID:16137181|PMID:12843337|PMID:12796866|PMID:15088804 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1660 ClinVarVariant:161126 NM_152296.4(ATP1A3):c.979_981delCTG (p.Leu327del) NCBITaxon:9606 Homo sapiens NCBIGene:478 ATP1A3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1661 ClinVarVariant:102723 NM_000277.1(PAH):c.526C>T (p.Arg176Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:10394930|PMID:8268925 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1662 ClinVarVariant:159192 NM_133433.3(NIPBL):c.64+3A>C NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1663 MGI:3757609 Ophn1<tm1Bill> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:17728457 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1664 MGI:2667529 Dusp1<tm1Brv> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20953200 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1665 ClinVarVariant:53549 NM_000492.3(CFTR):c.273+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1666 ClinVarVariant:161251 NM_000190.3(HMBS):c.583C>T (p.Arg195Cys) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1667 ClinVarVariant:7207 NM_000492.3(CFTR):c.2845C>T (p.His949Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7522211|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1668 MGI:3580542 Nsila2 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059 experimental phenotypic evidence PMID:15904718 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1669 ClinVarVariant:7237 NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:12952861|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1670 ClinVarVariant:7227 NG_016465.3:g.(37526_37529)_(58606_58609) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:10798353|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1671 MGI:1861112 Il1r1<tm1Imx> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19429130 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1672 ClinVarVariant:40189 NM_000492.3(CFTR):c.3276C>A (p.Tyr1092Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:7504969|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1673 ClinVarVariant:56249 NM_001042432.1(CLN3):c.105G>A (p.Trp35Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1674 ClinVarVariant:56279 NM_001042432.1(CLN3):c.533+1G>C NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1675 ClinVarVariant:196715 NM_015384.4(NIPBL):c.5808+2T>G NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1676 ClinVarVariant:56289 NM_001042432.1(CLN3):c.790+3A>C NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1677 ClinVarVariant:7217 NM_000492.3(CFTR):c.3752G>A (p.Ser1251Asn) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:7504969|PMID:20495477|PMID:23974870|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1678 ClinVarVariant:56259 NM_001042432.1(CLN3):c.222+2T>G NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1679 ClinVarVariant:56269 NM_001042432.1(CLN3):c.424delG (p.Val142Leufs) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1680 ClinVarVariant:159202 NM_133433.3(NIPBL):c.6590G>A (p.Gly2197Glu) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1681 ClinVarVariant:209174 NM_002501.3(NFIX):c.338_342dupAGATC (p.Arg116Serfs) NCBITaxon:9606 Homo sapiens NCBIGene:4784 NFIX HP:0000739 Anxiety 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
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1682 ClinVarVariant:48688 NM_000492.3(CFTR):c.349C>T (p.Arg117Cys) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1683 ClinVarVariant:4686 VPS13A, 8035G-A NCBITaxon:9606 Homo sapiens NCBIGene:23230 VPS13A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:21598378|PMID:14663054 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1684 ClinVarVariant:159252 NM_015384.4(NIPBL):c.892delC (p.Gln298Asnfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1685 ClinVarVariant:159242 NM_133433.3(NIPBL):c.8173G>C (p.Ala2725Pro) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1686 MGI:1857158 Drd1<tm1Jcd> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:10884517|PMID:10884517 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1687 ClinVarVariant:3893 NM_000520.5(HEXA):c.346+1G>C NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:20597919|PMID:16301864|PMID:1833974|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1688 MGI:2656648 Drd2<tm1Yyw> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:11069937|PMID:11069937 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1689 dbSNP:rs1845344 rs1845344-T NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:9491171|PMID:21326311|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1690 ClinVarVariant:159032 NM_133433.3(NIPBL):c.1297C>T (p.Gln433Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1691 MGI:3579440 Gabrg2<tm2Geh> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15850489 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1692 ClinVarVariant:159212 NM_133433.3(NIPBL):c.6935G>T (p.Gly2312Val) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1693 ClinVarVariant:216926 NM_000133.3(F9):c.835G>A (p.Ala279Thr) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1694 ClinVarVariant:8503 NM_001127221.1(CACNA1A):c.4366G>T (p.Val1456Leu) NCBITaxon:9606 Homo sapiens NCBIGene:773 CACNA1A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:10408532 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1695 MGI:3057337 Maoa<K284stop> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15272015 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1696 MGI:3829789 Tg(YAC18)18Hay NCBITaxon:10090 Mus musculus NCBIGene:3064 HTT MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23001568 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1697 ClinVarVariant:159222 NM_133433.3(NIPBL):c.7141G>A (p.Gly2381Ser) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1698 ClinVarVariant:8513 NM_001127221.1(CACNA1A):c.4037G>A (p.Arg1346Gln) NCBITaxon:9606 Homo sapiens NCBIGene:773 CACNA1A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:18400034 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1699 ClinVarVariant:7157 NM_000492.3(CFTR):c.2479G>T (p.Glu827Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:1284639|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1700 ClinVarVariant:7167 NM_000492.3(CFTR):c.3848G>T (p.Arg1283Met) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:1284468|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1701 ClinVarVariant:4526 NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) NCBITaxon:9606 Homo sapiens NCBIGene:7466 WFS1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16648378|PMID:17492394|PMID:18544103 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1702 MGI:2176596 Adcy8<tm1Ljm> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:10864938 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1703 MGI:3576223 Syngap1<tm1Rlh> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19145222 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1704 MGI:5698819 Brinp1<tm1Imts> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:24528488 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1705 ClinVarVariant:53839 NM_000492.3(CFTR):c.3883delA (p.Ile1295Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1706 ClinVarVariant:120291 NM_000277.1(PAH):c.887A>G (p.Asp296Gly) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1707 ClinVarVariant:10984 NM_001032383.1(PQBP1):c.334_354del21 (p.Gly113_Arg119del) NCBITaxon:9606 Homo sapiens NCBIGene:10084 PQBP1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16493439 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1708 MGI:2159000 Oprm1<tm1Kff> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22231481 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1709 MGI:5293422 Mapk1<tm1.2Kuta> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21849556 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1710 ClinVarVariant:10667 NM_000133.3(F9):c.540_541delAG (p.Arg180Serfs) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:15266608|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1711 ClinVarVariant:10617 NM_000133.3(F9):c.1217C>T (p.Ser406Leu) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1712 ClinVarVariant:53779 NM_000492.3(CFTR):c.3612G>A (p.Trp1204Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1713 ClinVarVariant:10627 NM_000133.3(F9):c.1328T>C (p.Ile443Thr) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:1902289|PMID:2220823|PMID:2494175|PMID:3401602|PMID:19187190|PMID:2066105 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1714 ClinVarVariant:10637 F9, EX7DEL NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:2741941|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1715 dbSNP:rs12793173 rs12793173-C NCBITaxon:9606 Homo sapiens NCBIGene:102723568 LOC102723568 HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:21602797|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1716 ClinVarVariant:211663 NM_015384.4(NIPBL):c.7912dupG (p.Glu2638Glyfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1717 MGI:3618598 Tg(PSEN1dE9)S9Dbo NCBITaxon:10090 Mus musculus NCBIGene:5663 PSEN1 MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16354928 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1718 MGI:3762757 Shank1<tm1Shng> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18272690 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1719 ClinVarVariant:10607 NM_000133.3(F9):c.1025C>T (p.Thr342Met) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:5298508|PMID:1864609|PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2773937|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1720 ClinVarVariant:31073 TTC19, LEU219TER NCBITaxon:9606 Homo sapiens NCBIGene:54902 TTC19 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:21278747 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1721 ClinVarVariant:593 NM_000277.1(PAH):c.1241A>G (p.Tyr414Cys) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:2014036 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1722 MGI:2148558 Axtofd4 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000059 experimental phenotypic evidence PMID:14990867 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1723 ClinVarVariant:99937 NM_015384.4(NIPBL):c.6641_6647delATCTATA (p.Asn2214Ilefs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1724 MGI:2177646 Tg(Camk2a-cre)T29-1Stl NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20357110 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1725 MGI:2388370 Tnc<tm1Msch> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16553788 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1726 ClinVarVariant:5119 NM_001271604.2(JPH3):c.431_433CTG(6_27) (p.Ala150_Ala157del) NCBITaxon:9606 Homo sapiens NCBIGene:57338 JPH3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:11694876 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1727 ClinVarVariant:10592 NM_000133.3(F9):c.541G>T (p.Val181Phe) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:2162822|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1728 ClinVarVariant:10572 NM_000133.3(F9):c.223C>T (p.Arg75Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:2743975|PMID:10734657|PMID:2198809|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1729 ClinVarVariant:1753 NM_000251.2(MSH2):c.1865C>T (p.Pro622Leu) NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8539655|PMID:15857188|PMID:21883167|PMID:17587321|PMID:8261515|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1730 ClinVarVariant:10582 NM_000133.3(F9):c.496A>T (p.Asn166Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2743975|PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1731 MGI:3800752 Tg(HTT*97Q)IXwy NCBITaxon:10090 Mus musculus NCBIGene:3064 HTT MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23001568 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1732 ClinVarVariant:10647 NM_000133.3(F9):c.1070G>A (p.Gly357Glu) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:1958666|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1733 MGI:3578226 Gsk3b<tm1Dral> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20357757 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1734 ClinVarVariant:38494 NM_000492.3(CFTR):c.579+1G>T NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1735 MGI:4949738 Shank3<tm2Gfng> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21423165 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1736 MGI:5707820 Dixdc1<tm1Bnrc> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22832659 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1737 ClinVarVariant:10657 NM_000133.3(F9):c.82T>C (p.Cys28Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1738 ClinVarVariant:188958 NM_000492.3(CFTR):c.1327_1330dupGATA (p.Ile444Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12454843|PMID:23974870|PMID:12815607|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:7537150|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1739 MGI:5317120 Del(5Gtf2i-Limk1)1Uta NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20049703 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1740 ClinVarVariant:90502 NM_000251.2(MSH2):c.1009C>T (p.Gln337Ter) NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1741 ClinVarVariant:53614 NM_000492.3(CFTR):c.2989-2A>G NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1742 ClinVarVariant:10099 NM_000132.3(F8):c.872A>G (p.Glu291Gly) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2833855|PMID:6253938|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1743 ClinVarVariant:10089 F8, EX6DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:3035554|PMID:17498080|PMID:15357786|PMID:8485051|PMID:2378544|PMID:8307558|PMID:2110545|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1744 MGI:3692441 Grin1<tm1Yql> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19915563 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1745 ClinVarVariant:9729 m.3308T>G NCBITaxon:9606 Homo sapiens NCBIGene:4535 ND1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1759138|PMID:9172914|PMID:9602186|PMID:17854255|PMID:10519336|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1746 MGI:2178544 Crhr1<tm1Klee> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:10448190|PMID:9655498 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1747 ClinVarVariant:10139 NM_000132.3(F8):c.1063C>T (p.Arg355Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:3012775|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1748 ClinVarVariant:10149 NM_000132.3(F8):c.1754T>C (p.Ile585Thr) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15357786|PMID:9302853|PMID:2378544|PMID:10734657|PMID:17498080 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1749 MGI:3687967 Clcn6<tm1Tjj> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16950870 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1750 ClinVarVariant:10119 F8, EX3DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2473810|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1751 ClinVarVariant:10109 NM_000132.3(F8):c.6977G>T (p.Arg2326Leu) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:2495245 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1752 ClinVarVariant:10129 NM_000132.3(F8):c.566C>T (p.Ser189Leu) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2510835|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1753 ClinVarVariant:120298 NM_000277.1(PAH):c.970-1G>A NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1754 ClinVarVariant:120288 NM_000277.1(PAH):c.837delC (p.Glu280Asnfs) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1755 MGI:5555957 Del(5Gtf2i-Fkbp6)1Vcam NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:25027326|PMID:25027326 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1756 ClinVarVariant:91323 NM_000535.6(PMS2):c.1A>G (p.Met1Val) NCBITaxon:9606 Homo sapiens NCBIGene:5395 PMS2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18602922|PMID:20487569|PMID:8539655|PMID:15857188|PMID:21883167|PMID:23709753|PMID:17587321|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1757 MGI:1857169 Fmr1<tm1Cgr> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:19016890|PMID:19016890 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1758 MGI:2388359 Folh1<tm1Nle> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16190866 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1759 MGI:3613512 Tg(YAC128)53Hay NCBITaxon:10090 Mus musculus NCBIGene:3064 HTT RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:19464370|PMID:19464370 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1760 ClinVarVariant:10269 F8, IVS14AS, A-G, -2 NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7728145|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1761 MGI:5310727 Mecp2<tm1.1Joez> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22119903 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1762 ClinVarVariant:12671 PRKAR1A, 16-BP DEL NCBITaxon:9606 Homo sapiens NCBIGene:5573 PRKAR1A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:12213893 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1763 MGI:5285394 Shank3<tm1.2Bux> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:24652766 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1764 ClinVarVariant:10279 NM_000132.3(F8):c.5443C>T (p.Gln1815Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:8307558|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1765 MGI:3831292 Kalrn<tm1.1Npl> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19020030 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1766 ClinVarVariant:10249 NM_000132.3(F8):c.2945dupA (p.Asn982Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:8281136|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1767 ClinVarVariant:10259 NM_000132.3(F8):c.4328_4331delAAGA (p.Lys1443Ilefs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:8281136 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1768 MGI:2386570 Tg(Wnt1-cre)11Rth NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:23134367 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1769 MGI:4867721 Mapk8ip2<tm1.1Gol> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21048139 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1770 ClinVarVariant:99942 NM_015384.4(NIPBL):c.7789delC (p.Leu2597Cysfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1771 MGI:5317543 Gpr26<tm1Zgwg> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:21924326 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1772 ClinVarVariant:99932 NM_133433.3(NIPBL):c.5366G>A (p.Arg1789Gln) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1773 MGI:4418483 Tg(tetO-APBA2,-lacZ)1Ito NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19420255 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1774 ClinVarVariant:10239 NM_000132.3(F8):c.1958T>C (p.Val653Ala) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8449505|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1775 ClinVarVariant:3557 NM_001042432.1(CLN3):c.597C>A (p.Tyr199Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:21990111|PMID:22545070|PMID:19489875 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1776 dbSNP:rs1669539 rs1669539-T NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:9491171|PMID:17938043|PMID:24058526 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1777 ClinVarVariant:161997 NM_000492.3(CFTR):c.2700T>A (p.Asn900Lys) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1778 ClinVarVariant:10199 NM_000132.3(F8):c.980T>C (p.Leu327Pro) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1779 ClinVarVariant:10209 NM_000132.3(F8):c.1226A>G (p.Glu409Gly) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:7728145|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1780 ClinVarVariant:10229 NM_000132.3(F8):c.1730C>T (p.Ser577Phe) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:8449505 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1781 ClinVarVariant:10219 F8, IVS10AS, G-T, +1 NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:1639429|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1782 ClinVarVariant:68433 NM_001127221.1(CACNA1A):c.4999C>T (p.Arg1667Trp) NCBITaxon:9606 Homo sapiens HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1783 ClinVarVariant:10172 NM_000132.3(F8):c.398A>G (p.Tyr133Cys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1784 ClinVarVariant:53979 NM_000492.3(CFTR):c.49_50dupTT (p.Trp19Alafs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1785 ClinVarVariant:10162 F8, IVS4AS, A-G, -2 NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7728145|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1786 MGI:4434258 Aspa<tm1a(EUCOMM)Wtsi> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21625469 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1787 ClinVarVariant:10612 NM_000133.3(F9):c.1135C>T (p.Arg379Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2198809|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1788 ClinVarVariant:10602 NM_000133.3(F9):c.881G>A (p.Arg294Gln) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:2929599|PMID:18700841|PMID:10734657|PMID:1346975|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1789 ClinVarVariant:10632 F9, EX1-3DEL NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:2741941|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1790 ClinVarVariant:10169 NM_000132.3(F8):c.350T>G (p.Leu117Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1791 MGI:4353991 Skap2<Gt(VICTR20)21Lex> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24815314|PMID:16135797 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1792 ClinVarVariant:10159 NM_000132.3(F8):c.207_210delGTTT (p.Phe70Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1793 ClinVarVariant:110 NM_017849.3(TMEM127):c.149dupA (p.Pro51Alafs) NCBITaxon:9606 Homo sapiens NCBIGene:55654 TMEM127 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1794 ClinVarVariant:10642 NM_000133.3(F9):c.1187G>C (p.Cys396Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:1986380|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1795 ClinVarVariant:10662 NM_000133.3(F9):c.1189G>C (p.Ala397Pro) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2510835|PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1796 ClinVarVariant:10189 NM_000132.3(F8):c.854T>G (p.Val285Gly) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:1908096 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1797 ClinVarVariant:10179 NM_000132.3(F8):c.665A>T (p.Asp222Val) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7728145|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1798 MGI:2387408 Htr1a<tm1Toth> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:10751426|PMID:9724773|PMID:9724773 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1799 ClinVarVariant:10652 NM_000133.3(F9):c.872A>T (p.Glu291Val) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:1346975|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1800 ClinVarVariant:10322 NM_000132.3(F8):c.6631G>C (p.Ala2211Pro) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:8307558|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1801 ClinVarVariant:10302 NM_000132.3(F8):c.6049delG (p.Val2017Trpfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7728145|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1802 ClinVarVariant:10332 NM_000132.3(F8):c.6956C>T (p.Pro2319Leu) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:1924291|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1803 ClinVarVariant:7112 NM_000492.3(CFTR):c.1585-1G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2236053|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:2210769|PMID:23974870|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1804 ClinVarVariant:10342 F8, EX14-22DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:1969840|PMID:17498080|PMID:15357786|PMID:2378544|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1805 ClinVarVariant:7122 NM_000492.3(CFTR):c.1657C>T (p.Arg553Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17475917|PMID:1721624|PMID:1695717|PMID:23974870|PMID:10361400|PMID:1682496|PMID:16283068|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:2233965|PMID:1518030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1806 MGI:5499183 Pedm29 NCBITaxon:10090 Mus musculus MGI:5499183 Pedm29 RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1807 ClinVarVariant:10622 NM_000133.3(F9):c.1307C>A (p.Ala436Glu) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1808 ClinVarVariant:10312 NM_000132.3(F8):c.6412_6413delTC (p.Ser2138Hisfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:7728145|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1809 ClinVarVariant:7182 NM_000492.3(CFTR):c.1040G>A (p.Arg347His) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7683952|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1810 ClinVarVariant:7192 NM_000492.3(CFTR):c.3763T>C (p.Ser1255Pro) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7504969|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1811 ClinVarVariant:7162 NM_000492.3(CFTR):c.3196C>T (p.Arg1066Cys) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:1284639|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1812 MGI:3611215 Wdup NCBITaxon:10090 Mus musculus MGI:3611215 Wdup RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence MGI:3580105 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1813 ClinVarVariant:7142 NM_000492.3(CFTR):c.1651G>A (p.Gly551Ser) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1944451|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1814 ClinVarVariant:7132 NM_000492.3(CFTR):c.1373G>T (p.Gly458Val) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2135388|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1815 ClinVarVariant:10352 NM_000132.3(F8):c.104A>G (p.Tyr35Cys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:12351418|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1816 ClinVarVariant:7152 NM_000492.3(CFTR):c.3873G>C (p.Gln1291His) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:1284466|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1817 ClinVarVariant:10122 F8, EX1-22DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15357786|PMID:9302853|PMID:2378544|PMID:10734657|PMID:17498080 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1818 ClinVarVariant:12779 NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:11404820 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1819 ClinVarVariant:7172 NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:7683952|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1820 ClinVarVariant:35858 NM_000492.3(CFTR):c.2989-2A>T NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1821 ClinVarVariant:219364 NM_001127701.1(SERPINA1):c.538C>T (p.Gln180Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:18376109|PMID:3878661|PMID:19072562|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1822 MGI:4443321 Grin2b<tm1.1Jlbr> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20357110 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1823 ClinVarVariant:219354 NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:18376109|PMID:3878661|PMID:19072562|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1824 MGI:3603321 Grm8<tm1Duv> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16045496 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1825 ClinVarVariant:53434 NM_000492.3(CFTR):c.2053C>T (p.Gln685Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1826 ClinVarVariant:6916 NM_003002.3(SDHD):c.14G>A (p.Trp5Ter) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12000816|PMID:6829807|PMID:17474956|PMID:14605591|PMID:19569019|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1827 ClinVarVariant:7064 NM_007262.4(PARK7):c.497T>C (p.Leu166Pro) NCBITaxon:9606 Homo sapiens NCBIGene:11315 PARK7 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:22492997|PMID:20639397|PMID:12446870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1828 ClinVarVariant:1485 NM_000190.3(HMBS):c.242T>C (p.Leu81Pro) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:14970743 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1829 ClinVarVariant:35868 NM_000492.3(CFTR):c.3528delC (p.Lys1177Serfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1830 ClinVarVariant:35828 NM_000492.3(CFTR):c.1585-8G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1831 ClinVarVariant:35838 NM_000492.3(CFTR):c.2052dupA (p.Gln685Thrfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:22658665|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:20659818 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1832 MGI:3580573 Nsila8<A/J> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000304 traceable author statement used in manual assertion PMID:15904718 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1833 ClinVarVariant:126964 NM_017849.3(TMEM127):c.208G>A (p.Asp70Asn) NCBITaxon:9606 Homo sapiens NCBIGene:55654 TMEM127 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1834 MGI:2451031 Cacna1e<tm1Hssh> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:11854466 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1835 MGI:1857197 Il6<tm1Kopf> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:16843000|PMID:19378383|PMID:12946594 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1836 ClinVarVariant:35848 NM_000492.3(CFTR):c.2768C>A (p.Ala923Asp) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1837 MGI:4867852 Lsamp<tm1Jinn> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20888367 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1838 MGI:1856716 Myo7a<sh1> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence MGI:63673 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1839 MGI:2178821 Kcnj11<tm1Sse> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16530794 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1840 ClinVarVariant:126974 NM_017849.3(TMEM127):c.76C>T (p.Gln26Ter) NCBITaxon:9606 Homo sapiens NCBIGene:55654 TMEM127 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1841 MGI:5429525 Tg(tetO-CALY)5Cber NCBITaxon:10090 Mus musculus NCBIGene:50632 CALY MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:18295356 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1842 ClinVarVariant:1465 HMBS, IVS9AS, G-A, -1 NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8270256 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1843 ClinVarVariant:9972 FMR1, (CGG)n EXPANSION NCBITaxon:9606 Homo sapiens NCBIGene:2332 FMR1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18297385|PMID:10208170|PMID:1605193|PMID:16176388|PMID:1675488|PMID:14994287|PMID:11445641|PMID:19429055|PMID:10972251|PMID:9719368 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1844 ClinVarVariant:1455 NM_000190.3(HMBS):c.100C>A (p.Gln34Lys) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1427766 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1845 MGI:2182322 Gtf2ird1<Tg(Alb1-Myc)166.8Sst> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22652393 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1846 ClinVarVariant:1445 NM_000190.3(HMBS):c.346C>T (p.Arg116Trp) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8096492 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1847 ClinVarVariant:12916 NM_152296.4(ATP1A3):c.*196_*198dupCTC NCBITaxon:9606 Homo sapiens NCBIGene:478 ATP1A3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:19351654 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1848 ClinVarVariant:53404 NM_000492.3(CFTR):c.1853T>C (p.Ile618Thr) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1849 ClinVarVariant:180194 NM_015384.4(NIPBL):c.914C>A (p.Ser305Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1850 ClinVarVariant:6906 NM_003002.3(SDHD):c.3G>C (p.Met1Ile) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:11391796 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1851 ClinVarVariant:1475 HMBS, IVS12DS, G-C, +1 NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8262514 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1852 ClinVarVariant:7202 NM_000492.3(CFTR):c.1943A>T (p.Asp648Val) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7504969|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1853 ClinVarVariant:10182 F8, IVS5AS, A-G, -2 NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:1357455 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1854 ClinVarVariant:159109 NM_133433.3(NIPBL):c.4240-1G>C NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1855 ClinVarVariant:53319 NM_000492.3(CFTR):c.1650delA (p.Gly551Valfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1856 ClinVarVariant:99930 NM_133433.3(NIPBL):c.4511T>A (p.Leu1504Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1857 ClinVarVariant:10640 NM_000133.3(F9):c.484C>T (p.Arg162Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2370049|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1858 ClinVarVariant:10630 F9, EX1-8DEL NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2992643|PMID:3817455|PMID:7875359|PMID:2886685|PMID:18700841|PMID:2841226|PMID:10734657|PMID:3029178|PMID:2848757|PMID:2741941|PMID:4045960|PMID:3411192|PMID:2773937|PMID:6843667|PMID:19187190|PMID:2846283 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1859 ClinVarVariant:10620 NM_000133.3(F9):c.1240C>A (p.Pro414Thr) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:2162822|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1860 MGI:1888407 Chrna7<tm1Bay> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:15541879|PMID:10454356 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1861 ClinVarVariant:10287 NM_000132.3(F8):c.5593G>T (p.Asp1865Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1862 ClinVarVariant:38799 NM_000492.3(CFTR):c.489+1G>T NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1863 dbSNP:rs3800569 rs3800569-C NCBITaxon:9606 Homo sapiens NCBIGene:50617 ATP6V0A4 HP:0000740 Episodic paroxysmal anxiety ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:21326311|PMID:3375880|PMID:21425450|PMID:9491171|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1864 ClinVarVariant:10237 NM_000132.3(F8):c.1892A>G (p.Asn631Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:7728145|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1865 ClinVarVariant:90670 NM_000251.2(MSH2):c.1457_1460delATGA (p.Asn486Thrfs) NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8539655|PMID:15857188|PMID:21883167|PMID:17587321|PMID:15042510|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1866 dbSNP:rs67072384 rs67072384-T NCBITaxon:9606 Homo sapiens NCBIGene:116985 ARAP1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:25670933|PMID:9491171|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1867 ClinVarVariant:15937 NM_000516.5(GNAS):c.601C>A (p.Arg201Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2778 GNAS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:12727968|PMID:8766942|PMID:9267696 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1868 ClinVarVariant:18091 NM_000484.3(APP):c.2075C>G (p.Ala692Gly) NCBITaxon:9606 Homo sapiens NCBIGene:351 APP HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10730508|PMID:19472156|PMID:15660409|PMID:17514358|PMID:19542627 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1869 ClinVarVariant:10277 NM_000132.3(F8):c.5408C>A (p.Ser1803Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1908096|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1870 ClinVarVariant:10247 NM_000132.3(F8):c.2215G>A (p.Glu739Lys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:7728145|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1871 ClinVarVariant:10257 F8, 1-BP INS, A, CODON 1414 NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1908096|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1872 ClinVarVariant:10227 NM_000132.3(F8):c.1682A>G (p.Asp561Gly) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:1908096 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1873 ClinVarVariant:3555 CLN3, IVSDS, G-C, +1/76-BP DEL NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:7553855 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1874 MGI:3611059 Tg(Myh6-ERBB4)HT2Gass NCBITaxon:10090 Mus musculus NCBIGene:2066 ERBB4 MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22378872 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1875 ClinVarVariant:99920 NM_133433.3(NIPBL):c.133C>T (p.Arg45Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20824775|PMID:18430761|PMID:17640042|PMID:17845236|PMID:19309268|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1876 ClinVarVariant:126969 NM_017849.3(TMEM127):c.409+1G>T NCBITaxon:9606 Homo sapiens NCBIGene:55654 TMEM127 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1877 MGI:3815539 Tg(MECP2)1Hzo NCBITaxon:10090 Mus musculus NCBIGene:4204 MECP2 RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:15351775|PMID:15351775 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1878 ClinVarVariant:5770 SGCE, 1-BP DEL, 565A NCBITaxon:9606 Homo sapiens NCBIGene:8910 SGCE HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:11528394 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1879 ClinVarVariant:209055 NM_000492.3(CFTR):c.(2908+1_2909-1)_(3367+1_3368-1)del NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1880 MGI:3604604 Lrp5<tm1Dgen> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence MGI:3604450 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1881 ClinVarVariant:209065 NM_000492.3(CFTR):c.(53+1_54-1)_(489+1_490-1)del NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1882 ClinVarVariant:159122 NM_015384.4(NIPBL):c.4636delC (p.Lys1548Asnfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1883 ClinVarVariant:7187 NM_000492.3(CFTR):c.1438G>T (p.Gly480Cys) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7757078|PMID:1376016|PMID:10361400|PMID:22975760|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:1284534|PMID:11823443 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1884 ClinVarVariant:7197 NM_000492.3(CFTR):c.326A>G (p.Tyr109Cys) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:7524909|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1885 MGI:4461457 Tg(RP23-326M22)760She NCBITaxon:10090 Mus musculus MGI:103291 Rai1 RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006|ECO:0000059 experimental evidence|experimental evidence|experimental phenotypic evidence PMID:18285828|PMID:18285828|PMID:18285828|PMID:18285828 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1886 ClinVarVariant:209045 NM_000492.3(CFTR):c.2658-1G>C NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1887 ClinVarVariant:159102 NM_133433.3(NIPBL):c.3874G>T (p.Glu1292Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1888 ClinVarVariant:10297 NM_000132.3(F8):c.5900G>A (p.Gly1967Asp) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8054459|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1889 ClinVarVariant:10267 NM_000132.3(F8):c.5143C>T (p.Arg1715Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8281136|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1979502|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1890 MGI:2446470 Tg(Camk2a-Fyn-531)1Nko NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:12399115|PMID:12399115 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1891 ClinVarVariant:10610 F9, TRP310TER NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2339358|PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1892 ClinVarVariant:10197 NM_000132.3(F8):c.940A>G (p.Thr314Ala) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:1924291|PMID:10734657|PMID:17498080|PMID:6438527|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1893 MGI:2178542 Comt<tm1Kara> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:9707588 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1894 ClinVarVariant:10177 NM_000132.3(F8):c.541G>A (p.Val181Met) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:1301932|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1895 ClinVarVariant:10187 NM_000132.3(F8):c.832G>A (p.Gly278Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:6438527|PMID:10734657|PMID:7728145|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1896 ClinVarVariant:10142 NM_000132.3(F8):c.1033G>T (p.Val345Leu) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:2107542|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2105906|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1897 ClinVarVariant:10132 F8, EX23-25DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2901224|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1898 ClinVarVariant:56254 NM_001042432.1(CLN3):c.126-1G>A NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1899 ClinVarVariant:36956 NM_002501.3(NFIX):c.568C>T (p.Gln190Ter) NCBITaxon:9606 Homo sapiens NCBIGene:4784 NFIX HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:20673863 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1900 ClinVarVariant:16081 NM_001083112.2(GPD2):c.1904T>C (p.Phe635Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2820 GPD2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2209327|PMID:9070847|PMID:9428966|PMID:22188726|PMID:22397240|PMID:12429356 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1901 ClinVarVariant:56244 NM_001042432.1(CLN3):c.1001G>A (p.Arg334His) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:19132115|PMID:9311735|PMID:20187884|PMID:9618513|PMID:21499717|PMID:10749980|PMID:23539563|PMID:21990111 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1902 ClinVarVariant:56264 NM_001042432.1(CLN3):c.370dupT (p.Tyr124Leufs) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1903 ClinVarVariant:11570 NM_002578.4(PAK3):c.1094C>A (p.Ala365Glu) NCBITaxon:9606 Homo sapiens NCBIGene:5063 PAK3 HP:0000739 Anxiety ECO:0000269 experimental evidence used in manual assertion PMID:12884430 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1904 ClinVarVariant:36966 NM_002501.3(NFIX):c.179T>C (p.Leu60Pro) NCBITaxon:9606 Homo sapiens NCBIGene:4784 NFIX HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:22301465 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1905 ClinVarVariant:196277 NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7691344|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1906 ClinVarVariant:7212 NM_000492.3(CFTR):c.3611G>A (p.Trp1204Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7522211|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1907 ClinVarVariant:7222 NM_000492.3(CFTR):c.3532_3535dupTCAA (p.Thr1179Ilefs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7504970|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1908 ClinVarVariant:7242 NM_003001.3(SDHC):c.405+1G>T NCBITaxon:9606 Homo sapiens NCBIGene:6391 SDHC HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:12658451 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1909 ClinVarVariant:7232 NM_000492.3(CFTR):c.262_263delTT (p.Leu88Ilefs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7509310|PMID:7866213|PMID:20171652|PMID:23974870|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1910 MGI:1928960 Dbh<tm2(Th)Rpa> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:16723393 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1911 dbSNP:rs7952106 rs7952106-G NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:24058526|PMID:21425450|PMID:9491171|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1912 ClinVarVariant:188783 NM_000492.3(CFTR):c.3368-2A>G NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19540513|PMID:10361400|PMID:16049310|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12938099|PMID:16963320|PMID:24784896|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1913 ClinVarVariant:35881 NM_000492.3(CFTR):c.4046G>A (p.Gly1349Asp) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1914 ClinVarVariant:211633 NM_133433.3(NIPBL):c.3856-7_3856-5del NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1915 MGI:3051945 Slc17a7<tm1Rmnd> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17241289 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1916 ClinVarVariant:35871 NM_000492.3(CFTR):c.3691delT (p.Ser1231Profs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1917 ClinVarVariant:211623 NM_133433.3(NIPBL):c.1496-8A>G NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1918 dbSNP:rs4077468 rs4077468-A NCBITaxon:9606 Homo sapiens NCBIGene:103021296 LOC103021296 HP:0000740 Episodic paroxysmal anxiety ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:23670970|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1919 ClinVarVariant:3933 NM_000520.5(HEXA):c.902T>G (p.Met301Arg) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8490625|PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1920 ClinVarVariant:189064 NM_000295.4(SERPINA1):c.646+1G>T NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:18376109|PMID:3878661|PMID:19072562|PMID:23547634|PMID:8364536 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1921 MGI:5751297 Axtofd5 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000059 experimental phenotypic evidence PMID:14990867 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1922 ClinVarVariant:3913 HEXA, IVS2, G-A, +1 NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:803011|PMID:1837283|PMID:696935|PMID:7063277|PMID:20597919|PMID:1532289|PMID:16301864|PMID:1269177|PMID:1384323|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1923 ClinVarVariant:10577 NM_000133.3(F9):c.287A>C (p.Gln96Pro) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1924 MGI:1857159 Drd3<tm1Dac> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006|ECO:0000006 experimental evidence|experimental evidence|experimental evidence PMID:10884517|PMID:9402626|PMID:9402626 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1925 ClinVarVariant:10587 NM_000133.3(F9):c.880C>T (p.Arg294Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2743975|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1926 ClinVarVariant:35821 NM_000492.3(CFTR):c.1367T>C (p.Val456Ala) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1927 MGI:5285394 Shank3<tm1.2Bux> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006|ECO:0000006|ECO:0000006 experimental evidence|experimental evidence|experimental evidence|experimental evidence PMID:24652766|PMID:24652766|PMID:24652766|PMID:24652766 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1928 ClinVarVariant:12782 NM_003000.2(SDHB):c.716_719delCTCT (p.Ser239Tyrfs) NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:12000816|PMID:12000816|PMID:14685938|PMID:6829807|PMID:17474956|PMID:14605591|PMID:14685938|PMID:19569019|PMID:1576030 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1929 MGI:5085782 Cyfip2<tm1(KOMP)Vlcg> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:25432536|PMID:25432536 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1930 ClinVarVariant:10597 F9, IVS6DS, G-T NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:4033760|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1931 MGI:2176368 Pdyn<tm1Ute> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:12843270 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1932 ClinVarVariant:48708 NM_000492.3(CFTR):c.988G>T (p.Gly330Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1933 ClinVarVariant:10567 NM_000133.3(F9):c.169C>T (p.Gln57Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1934 MGI:3811718 Npy<tm1(cre)Tkar> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18616565 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1935 ClinVarVariant:217807 NM_000295.4(SERPINA1):c.226_228delTTC (p.Phe76del) NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:18376109|PMID:3878661|PMID:19072562|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1936 MGI:2449922 Fev<tm1Esd> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20818386 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1937 ClinVarVariant:53629 NM_000492.3(CFTR):c.3022delG (p.Val1008Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12544470|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:20059485 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1938 MGI:4452483 Tg(Prnp-ITM2B*)7Jckr NCBITaxon:10090 Mus musculus NCBIGene:9445 ITM2B RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:20385796|PMID:20385796 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1939 ClinVarVariant:120261 NM_000277.1(PAH):c.1171A>G (p.Ser391Gly) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1940 MGI:3050759 Rasd2<tm1Rdl> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15199135 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1941 ClinVarVariant:120281 NM_000277.1(PAH):c.60+5G>A NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1942 MGI:3573912 Aaj3<A/J> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000304 traceable author statement used in manual assertion PMID:15371360 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1943 ClinVarVariant:120271 NM_000277.1(PAH):c.205_210dupCCTTCT (p.Ser70_Arg71insProSer) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1944 ClinVarVariant:209050 NM_000492.3(CFTR):c.(3963+1_3964-1)_(*1_?)del NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1945 MGI:2183093 Nfatc4<tm1Grc> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:16554754|PMID:16554754 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1946 ClinVarVariant:120268 NM_000277.1(PAH):c.169G>T (p.Glu57Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1947 ClinVarVariant:102440 NM_017775.3(TTC19):c.829C>T (p.Gln277Ter) NCBITaxon:9606 Homo sapiens NCBIGene:54902 TTC19 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:24397319 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1948 ClinVarVariant:209160 NM_000520.5(HEXA):c.806-7G>A NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:26633545|PMID:696935|PMID:20597919|PMID:16301864|PMID:9272736|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1949 ClinVarVariant:120278 NM_000277.1(PAH):c.547_548delGAinsTT (p.Glu183Leu) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1950 MGI:4867226 Grn<tm1Blrl> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:22062772 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1951 ClinVarVariant:92756 NM_000277.1(PAH):c.974A>G (p.Tyr325Cys) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1952 ClinVarVariant:36769 NM_003000.2(SDHB):c.423+20T>A NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:6829807|PMID:17474956|PMID:14605591|PMID:19569019|PMID:1576030|PMID:18419787 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1953 ClinVarVariant:92746 NM_000277.1(PAH):c.533A>G (p.Glu178Gly) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:18294361 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1954 ClinVarVariant:53574 NM_000492.3(CFTR):c.2825delT (p.Ile942Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1955 ClinVarVariant:2406 NM_032409.2(PINK1):c.1311G>A (p.Trp437Ter) NCBITaxon:9606 Homo sapiens NCBIGene:100861548 PINK1-AS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:18524835|PMID:16207731|PMID:15087508 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1956 ClinVarVariant:91253 NM_000251.2(MSH2):c.943-1G>C NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1957 MGI:3848928 Dlg4<tm2.1Grnt> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20952458 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1958 MGI:4414758 Myg1<tm1Mphi> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19818808 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1959 ClinVarVariant:12911 NM_152296.4(ATP1A3):c.829G>A (p.Glu277Lys) NCBITaxon:9606 Homo sapiens NCBIGene:478 ATP1A3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15260953|PMID:17282997|PMID:15260953|PMID:20558373|PMID:20558373 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1960 ClinVarVariant:225135 NM_000277.1(PAH):c.800A>T (p.Gln267Leu) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1961 MGI:2675703 Synpo<tm1Mndl> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:12928494 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1962 MGI:4868385 Del(10Prmt2-Cstb)4Yah NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21047530 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1963 ClinVarVariant:209060 NM_000492.3(CFTR):c.(?_1)_(53+1_54-1)del NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1964 MGI:4452483 Tg(Prnp-ITM2B*)7Jckr NCBITaxon:10090 Mus musculus NCBIGene:9445 ITM2B RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:20385796|PMID:20385796 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1965 ClinVarVariant:120258 NM_000277.1(PAH):c.1066-2A>T NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1966 ClinVarVariant:56274 NM_001042432.1(CLN3):c.482C>G (p.Ser161Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1967 ClinVarVariant:56284 NM_001042432.1(CLN3):c.575G>A (p.Gly192Glu) NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1968 ClinVarVariant:56294 NM_001042432.1(CLN3):c.963-1G>T NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1969 ClinVarVariant:159254 NM_133433.3(NIPBL):c.922C>T (p.Arg308Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1970 MGI:3055492 Bbs4<Gt1Nk> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16794820 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1971 ClinVarVariant:159234 NM_015384.4(NIPBL):c.7701_7725del25 (p.Ser2568Metfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1972 MGI:3590684 Pvalb<tm1(cre)Arbr> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24430185 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1973 ClinVarVariant:4688 VPS13A, 7-KB DEL NCBITaxon:9606 Homo sapiens NCBIGene:23230 VPS13A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15824261 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1974 ClinVarVariant:159244 NM_133433.3(NIPBL):c.8277_8283delGGTGCCT (p.Val2760Glyfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1975 ClinVarVariant:102437 NM_017775.3(TTC19):c.601_604delGGCT (p.Gly201Metfs) NCBITaxon:9606 Homo sapiens NCBIGene:54902 TTC19 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:23532514 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1976 ClinVarVariant:159214 NM_133433.3(NIPBL):c.6954+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1977 ClinVarVariant:8505 NM_001127221.1(CACNA1A):c.1748G>A (p.Arg583Gln) NCBITaxon:9606 Homo sapiens NCBIGene:773 CACNA1A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:12707077|PMID:12056940|PMID:18056581|PMID:10408534 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1978 ClinVarVariant:159224 NM_015384.4(NIPBL):c.7198delC (p.Arg2400Valfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1979 ClinVarVariant:183387 NM_002024.5(FMR1):c.-128_-126(200) NCBITaxon:9606 Homo sapiens NCBIGene:2332 FMR1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18297385|PMID:16176388|PMID:14994287|PMID:19429055|PMID:7620122|PMID:1710175|PMID:10972251 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1980 ClinVarVariant:159204 NM_015384.4(NIPBL):c.6632_6634delAAG (p.Glu2211del) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1981 ClinVarVariant:125436 NM_000277.1(PAH):c.505C>T (p.Arg169Cys) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1982 ClinVarVariant:183421 NM_017831.3(RNF125):c.488C>T (p.Ser163Leu) NCBITaxon:9606 Homo sapiens NCBIGene:54941 RNF125 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:25196541 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1983 ClinVarVariant:3935 NM_000520.5(HEXA):c.116T>G (p.Leu39Arg) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:20597919|PMID:8490625|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1984 ClinVarVariant:3925 NM_000520.5(HEXA):c.508C>T (p.Arg170Trp) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:20597919|PMID:1302612|PMID:16301864|PMID:8490625|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1985 MGI:2451310 Wasf1<tm1Jsco> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:12578964 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1986 MGI:2178545 Crhr2<tm1Klee> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:11756502 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1987 MGI:3653645 Nkx2-1<tm2Shk> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17182767 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1988 MGI:4418499 Ehmt2<tm1.1Tara> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20005824 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1989 ClinVarVariant:189046 NM_000520.5(HEXA):c.1307_1308delTA (p.Ile436Serfs) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:22441121|PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1990 ClinVarVariant:3905 NM_000520.5(HEXA):c.1177C>T (p.Arg393Ter) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1837283|PMID:696935|PMID:20597919|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1991 MGI:2136279 Tac1<tm1Pig> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:12427862 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1992 ClinVarVariant:10569 F9, ARG-4GLN NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2757966|PMID:3817455|PMID:7875359|PMID:18700841|PMID:2738071|PMID:10734657|PMID:19187190|PMID:3009023 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1993 ClinVarVariant:10619 F9, GLY367ARG NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1994 dbSNP:rs7203560 rs7203560-G NCBITaxon:9606 Homo sapiens NCBIGene:8131 NPRL3 HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:23406172|PMID:21099065|PMID:3375880|PMID:21425450|PMID:9491171|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1995 ClinVarVariant:10629 NM_000133.3(F9):c.1369A>T (p.Lys457Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2714791|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1996 ClinVarVariant:10579 NM_000133.3(F9):c.316G>A (p.Gly106Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2929599|PMID:3817455|PMID:7875359|PMID:18700841|PMID:2762170|PMID:10734657|PMID:3262389|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1997 dbSNP:rs766432 rs766432-? NCBITaxon:9606 Homo sapiens NCBIGene:53335 BCL11A HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:25042611|PMID:21099065|PMID:3375880|PMID:23406172|PMID:21425450|PMID:9491171|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1998 ClinVarVariant:1460 HMBS, 1-BP INS, 182G NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8270254 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
1999 MGI:3696469 Tg(Prnp-App/APPswe)E1-2Dbo NCBITaxon:10090 Mus musculus MGI:97769 Prnp RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:9117892|PMID:12742740|PMID:12742740|PMID:12742740 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2000 ClinVarVariant:10599 NM_000133.3(F9):c.804T>G (p.Cys268Trp) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2773937|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2001 ClinVarVariant:75241 NM_002608.3(PDGFB):c.726G>C (p.Ter242Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:5155 PDGFB HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:23913003 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2002 MGI:2176054 Tg(Syn1-cre)671Jxm NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17182767 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2003 ClinVarVariant:3915 NM_000520.5(HEXA):c.1495C>T (p.Arg499Cys) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14566483|PMID:22789865|PMID:17237499|PMID:696935|PMID:20597919|PMID:16088929|PMID:17015493|PMID:16301864|PMID:8490625|PMID:1532289|PMID:8355954|PMID:18490185|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2004 ClinVarVariant:167361 NM_015384.4(NIPBL):c.6701T>G (p.Leu2234Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2005 ClinVarVariant:10609 NM_000133.3(F9):c.1064G>T (p.Gly355Val) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:19187190|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2006 ClinVarVariant:211665 NM_133433.3(NIPBL):c.8275_8276dupCT (p.Val2760Trpfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2007 MGI:2384087 Fshr<tm1Saco> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:14502087 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2008 ClinVarVariant:1450 NM_000190.3(HMBS):c.734T>G (p.Leu245Arg) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1714233 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2009 MGI:3041596 Axtofd6<L2> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:14990867 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2010 ClinVarVariant:1480 HMBS, ALU INS NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:10408772 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2011 ClinVarVariant:6901 NM_003002.3(SDHD):c.95C>A (p.Ser32Ter) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:11343322 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2012 ClinVarVariant:1470 HMBS, 8-BP INS NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8270254 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2013 ClinVarVariant:211625 NM_015384.4(NIPBL):c.212_213dupAG (p.Val72Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2014 ClinVarVariant:35873 NM_000492.3(CFTR):c.370G>C (p.Gly124Arg) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2015 ClinVarVariant:107 NM_017849.3(TMEM127):c.410-2A>C NCBITaxon:9606 Homo sapiens NCBIGene:55654 TMEM127 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2016 ClinVarVariant:211645 NM_133433.3(NIPBL):c.5044C>T (p.Arg1682Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2017 MGI:3580562 Nsila2<C57BL/6J> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000304 traceable author statement used in manual assertion PMID:15904718 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2018 MGI:3774541 Tph2<tm1Mca> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:18212115|PMID:18212115 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2019 ClinVarVariant:35823 NM_000492.3(CFTR):c.1400T>C (p.Leu467Pro) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2020 MGI:4245251 Cnih1<Gt(OST237199)Lex> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20562862|PMID:20562862 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2021 ClinVarVariant:35833 NM_000492.3(CFTR):c.1865G>A (p.Gly622Asp) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2022 MGI:5007094 Csgalnact1<tm1Lex> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence MGI:5000289|PMID:20562862 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2023 ClinVarVariant:12784 SDHB, 1.0-KB DEL, EX1 NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:15531530 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2024 MGI:2388040 Map6<tm1Job> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:12231625 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2025 MGI:1861926 Gabrd<tm1Geh> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:10536021 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2026 MGI:1930937 Psen1<tm1Mpm> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:22336193|PMID:24278307 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2027 ClinVarVariant:189126 NM_000520.5(HEXA):c.2T>C (p.Met1Thr) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:11161796|PMID:3837850|PMID:696935|PMID:16088929|PMID:20597919|PMID:16301864|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2028 ClinVarVariant:194161 NM_000277.1(PAH):c.1352_1356delTAAAG (p.Ter453Profs) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:10679941 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2029 ClinVarVariant:92751 NM_000277.1(PAH):c.898G>T (p.Ala300Ser) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16198137|PMID:18294361|PMID:24350308|PMID:18538294|PMID:15464430|PMID:8831077|PMID:21147011|PMID:19062537|PMID:17935162|PMID:23792259|PMID:15557004|PMID:22513348|PMID:22526846|PMID:8533759|PMID:18299955|PMID:9781015|PMID:9298832|PMID:1563085|PMID:23500595|PMID:12655553|PMID:12501224 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2030 MGI:3580541 Nsila1 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059 experimental phenotypic evidence PMID:15904718 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2031 MGI:3718452 Tg(SOD1)51Yg NCBITaxon:10090 Mus musculus NCBIGene:6647 SOD1 RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:15016076|PMID:15016076 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2032 ClinVarVariant:92741 NM_000277.1(PAH):c.355C>T (p.Pro119Ser) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2033 MGI:3764690 Park2<tm1Ccs> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:17883413 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2034 MGI:3526452 Spred1<tm1Hiin> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:19118178 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2035 MGI:3653427 Htr2a<tm2Grch> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16873667 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2036 ClinVarVariant:595 NM_000277.1(PAH):c.1068C>G (p.Tyr356Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:24401910|PMID:17935162|PMID:10471838|PMID:20140859|PMID:9860305|PMID:8406445|PMID:24350308|PMID:1349576|PMID:21811977|PMID:21462123 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2037 ClinVarVariant:208485 NM_183357.2(ADCY5):c.2088+1G>T NCBITaxon:9606 Homo sapiens NCBIGene:111 ADCY5 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:24700542|PMID:22782511 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2038 ClinVarVariant:585 NG_008690.1:g.22736_29335delinsGGCACCTG NCBITaxon:9606 Homo sapiens HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:2573272|PMID:1968617 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2039 ClinVarVariant:2411 NM_032409.2(PINK1):c.836G>A (p.Arg279His) NCBITaxon:9606 Homo sapiens NCBIGene:100861548 PINK1-AS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:18704525|PMID:15970950 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2040 MGI:5749786 Tg(Camk2a-MAPT)601Ymot NCBITaxon:10090 Mus musculus MGI:97180 Mapt RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:21324362|PMID:21324362 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2041 ClinVarVariant:54040 NM_000492.3(CFTR):c.680T>G (p.Leu227Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2042 ClinVarVariant:159054 NM_133433.3(NIPBL):c.2422C>T (p.Arg808Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2043 ClinVarVariant:99939 NM_133433.3(NIPBL):c.7301A>G (p.Asn2434Ser) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2044 ClinVarVariant:189166 NM_000520.5(HEXA):c.1123delG (p.Glu375Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16088929|PMID:696935|PMID:20597919|PMID:16301864|PMID:16698036|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2045 ClinVarVariant:92731 NM_000277.1(PAH):c.1208C>T (p.Ala403Val) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:18294361|PMID:8889590|PMID:17935162|PMID:12501224|PMID:22513348|PMID:22526846|PMID:11524738|PMID:12649065|PMID:23430547|PMID:17096675|PMID:19062537|PMID:16198137|PMID:10479481|PMID:9781015|PMID:24350308|PMID:22330942|PMID:9429153|PMID:23500595|PMID:12655553|PMID:23792259|PMID:17096675|PMID:11385716|PMID:24350308|PMID:23764561|PMID:12640344|PMID:22513348|PMID:18299955|PMID:12409276 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2046 ClinVarVariant:10639 NM_000133.3(F9):c.1120G>T (p.Val374Phe) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:2320433|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2047 ClinVarVariant:10649 NM_000133.3(F9):c.1232G>T (p.Ser411Ile) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1346975|PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2048 ClinVarVariant:54010 NM_000492.3(CFTR):c.579+3A>G NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2049 ClinVarVariant:159064 NM_015384.4(NIPBL):c.2773_2774delAA (p.Lys925Glufs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2050 ClinVarVariant:9969 NM_002024.5(FMR1):c.911T>A (p.Ile304Asn) NCBITaxon:9606 Homo sapiens NCBIGene:2332 FMR1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18297385|PMID:18664458|PMID:16176388|PMID:14994287|PMID:19429055|PMID:7633450|PMID:10972251|PMID:8490650|PMID:9659908|PMID:15805463|PMID:8156595 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2051 ClinVarVariant:159024 NM_015384.4(NIPBL):c.1003delG (p.Glu335Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2052 ClinVarVariant:18093 NM_000484.3(APP):c.2010_2011delGAinsTC (p.Lys670_Met671delinsAsnLeu) NCBITaxon:9606 Homo sapiens NCBIGene:351 APP HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10730508|PMID:19472156|PMID:15660409|PMID:17514358|PMID:19542627 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2053 ClinVarVariant:159034 NM_015384.4(NIPBL):c.1447_1448delGA (p.Glu483Ilefs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2054 ClinVarVariant:10299 NM_000132.3(F8):c.5938C>T (p.His1980Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:7728145|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2055 MGI:2176172 Tg(Nes-cre)1Kln NCBITaxon:10090 Mus musculus MGI:101784 Nes MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:10471508|PMID:23622066 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2056 ClinVarVariant:159084 NM_015384.4(NIPBL):c.3461_3462delCT (p.Ser1154Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2057 ClinVarVariant:10289 NM_000132.3(F8):c.5618C>G (p.Pro1873Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:7728145|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2058 ClinVarVariant:5772 NM_003919.2(SGCE):c.835_839delACAAA (p.Thr279Alafs) NCBITaxon:9606 Homo sapiens NCBIGene:64921 CASD1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:10220438|PMID:12402271|PMID:12391338 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2059 MGI:3573901 Aaj1 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059 experimental phenotypic evidence PMID:15371360 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2060 ClinVarVariant:53884 NM_000492.3(CFTR):c.4086dupT (p.Lys1363Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2061 ClinVarVariant:7129 NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2236053|PMID:2210768|PMID:1370365|PMID:7866213|PMID:20171652|PMID:20495477|PMID:1370365|PMID:2210768|PMID:12796866|PMID:1721624|PMID:1721624|PMID:10361400|PMID:23974870|PMID:7520798 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2062 ClinVarVariant:10349 F8, EX23-26DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:1523102 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2063 ClinVarVariant:7119 NM_000492.3(CFTR):c.1721C>A (p.Pro574His) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:2236053|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2064 ClinVarVariant:17967 NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:18376109|PMID:14522813|PMID:9195389|PMID:21960536|PMID:3878661|PMID:19072562|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2065 ClinVarVariant:7199 NM_000492.3(CFTR):c.273+4A>G NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7522211|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2066 MGI:3814702 Tc(HSA21)1TybEmcf NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059|ECO:0000006 experimental evidence|experimental phenotypic evidence|experimental evidence PMID:21047530|PMID:21047530|PMID:21047530 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2067 ClinVarVariant:7179 NM_000492.3(CFTR):c.171G>A (p.Trp57Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7683952|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2068 ClinVarVariant:10339 F8, EX5-13DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2125022|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2069 ClinVarVariant:7149 NM_000492.3(CFTR):c.2737_2738insG (p.Tyr913Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:1373935|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2070 ClinVarVariant:7139 NM_000492.3(CFTR):c.1000C>T (p.Arg334Trp) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:9039981|PMID:7866213|PMID:20171652|PMID:2045102|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2071 MGI:3530090 B4galt5<Gt(OST202518)Lex> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence MGI:3609573 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2072 ClinVarVariant:17977 NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:7980208|PMID:18376109|PMID:2642408|PMID:3878661|PMID:19072562|PMID:23547634|PMID:18353624|PMID:3257351 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2073 ClinVarVariant:7159 NM_000492.3(CFTR):c.3199G>A (p.Ala1067Thr) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:1284639|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2074 ClinVarVariant:159094 NM_015384.4(NIPBL):c.3804_3818delCTTGGAGAAGAATAT (p.Leu1269_Ile1273del) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2075 ClinVarVariant:17987 NM_001127701.1(SERPINA1):c.347T>A (p.Ile116Asn) NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:18376109|PMID:14985567|PMID:3878661|PMID:19072562|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2076 MGI:3815539 Tg(MECP2)1Hzo NCBITaxon:10090 Mus musculus NCBIGene:4204 MECP2 HP:0000739 Anxiety ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:22231481|PMID:22231481 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2077 ClinVarVariant:16155 NM_001018077.1(NR3C1):c.2318T>C (p.Leu773Pro) NCBITaxon:9606 Homo sapiens NCBIGene:2908 NR3C1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15769988 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2078 MGI:3575505 Ehmt1<tm1Yshk> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19896504 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2079 MGI:2678096 Crhr1<tm2Wrst> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:12973355|PMID:21885734 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2080 ClinVarVariant:102557 NM_000277.1(PAH):c.1199+1G>C NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:24301756|PMID:23074961|PMID:23856132|PMID:22763404|PMID:20920871|PMID:20187763|PMID:22333022|PMID:22526846 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2081 ClinVarVariant:189240 NM_032409.2(PINK1):c.620delG (p.Arg207Glnfs) NCBITaxon:9606 Homo sapiens NCBIGene:102464833 MIR6084 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2082 MGI:2183727 Mecp2<tm1Hzo> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:12160743 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2083 ClinVarVariant:30559 NM_006005.3(WFS1):c.2338G>A (p.Gly780Ser) NCBITaxon:9606 Homo sapiens NCBIGene:7466 WFS1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:21538838 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2084 ClinVarVariant:10309 NM_000132.3(F8):c.6360T>G (p.Phe2120Leu) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:7728145|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:6438527 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2085 ClinVarVariant:159164 NM_015384.4(NIPBL):c.5924_5926delTTG (p.Val1975del) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2086 ClinVarVariant:7109 NM_000492.3(CFTR):c.350G>A (p.Arg117His) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2349952|PMID:11746017|PMID:7866213|PMID:20171652|PMID:8421472|PMID:20495477|PMID:12796866|PMID:2344617|PMID:10361400|PMID:7692051|PMID:7506096|PMID:19880712 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2087 ClinVarVariant:10329 NM_000132.3(F8):c.6794_6795delAG (p.Gln2265Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:8307558|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2088 ClinVarVariant:96351 NM_015384.4(NIPBL):c.7047T>G (p.Tyr2349Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2089 ClinVarVariant:10319 NM_000132.3(F8):c.6533G>A (p.Arg2178His) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2090 ClinVarVariant:159184 NM_133433.3(NIPBL):c.6266T>G (p.Val2089Gly) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2091 MGI:2445612 Ptpra<tm1Cjp> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:12932834 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2092 ClinVarVariant:159154 NM_133433.3(NIPBL):c.5483G>A (p.Arg1828Gln) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2093 MGI:5618129 Gpr52<tm1Kohi> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:24587241 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2094 MGI:2178959 Mdk<tm1Tmu> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10096022 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2095 ClinVarVariant:209067 NM_000492.3(CFTR):c.(1766+1_1767-1)_(2619+1_2620-1)del NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2096 MGI:5559062 Nenf<tm1Mkga> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24058337 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2097 MGI:2176750 Bdnf<tm3Jae> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11579207 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2098 ClinVarVariant:31168 PRRT2, 1-BP DUP, 649C NCBITaxon:9606 Homo sapiens NCBIGene:112476 PRRT2 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:22399141|PMID:22623405|PMID:22101681|PMID:22120146|PMID:22243967|PMID:22744660 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
2099 MGI:2183639 Tg(App)1874Kha NCBITaxon:10090 Mus musculus RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:7576662|PMID:7576662 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2100 ClinVarVariant:2139 NM_015384.4(NIPBL):c.2T>A (p.Met1Lys) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18430761|PMID:17640042|PMID:17845236|PMID:19309268|PMID:19330433|PMID:15146186 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2101 MGI:5700365 Lzts1<tm1Kso> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:26490870 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2102 MGI:5529365 Mecp2<tm5.1Bird> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:26647311 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2103 ClinVarVariant:53672 NM_000492.3(CFTR):c.3181G>C (p.Gly1061Arg) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2104 ClinVarVariant:53229 NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2105 MGI:3696968 Lmx1b<tm1Zfc> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:18695238 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2106 ClinVarVariant:2149 NIPBL, IVS44DS, A-G, +4 NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18430761|PMID:17640042|PMID:15146186|PMID:17845236|PMID:19309268|PMID:19330433|PMID:15318302 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2107 MGI:2682895 L1cam<tm1Fmo> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:14614101 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2108 ClinVarVariant:10174 NM_000132.3(F8):c.410C>T (p.Thr137Ile) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7728145|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:6438527 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2109 MGI:4359727 Dp(7Herc2-Mkrn3)1Taku NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:19563756|PMID:19563756 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2110 MGI:3640817 Ntrk2<tm1.1Tes> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:19158294|PMID:19158294 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2111 ClinVarVariant:10194 NM_000132.3(F8):c.907delG (p.Ala303Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:7728145|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2112 MGI:2182878 Adcyap1<tm1Aba> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:11687615 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2113 ClinVarVariant:10184 F8, IVS6AS, G-C, -1 NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2114 MGI:4868760 Atmin<tm1Axbe> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20889973 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2115 ClinVarVariant:218335 NM_000520.5(HEXA):c.340G>A (p.Glu114Lys) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16301864|PMID:8355954|PMID:696935|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2116 ClinVarVariant:198424 NM_000492.3(CFTR):c.848_860delAAATGATTGAAAAinsTG (p.Lys283Metfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2117 ClinVarVariant:7224 NM_000492.3(CFTR):c.2988+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9683582|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2118 MGI:2386577 Pax5<tm3Mbu> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:23349049|PMID:23349049 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2119 ClinVarVariant:219156 NM_000551.3(VHL):c.588_588dupA (p.Asp197Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:7428 VHL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2120 ClinVarVariant:96338 NM_015384.4(NIPBL):c.2626dupG (p.Asp876Glyfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2121 MGI:3798957 Del(16Dgcr2-Hira)3Aam NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:18469815|PMID:18469815 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2122 ClinVarVariant:10164 NM_000132.3(F8):c.275G>T (p.Gly92Val) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:1301932|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2123 ClinVarVariant:10154 NM_000132.3(F8):c.89A>T (p.Glu30Val) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:1301932 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2124 ClinVarVariant:10144 F8, EX13DUP NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2159433|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2125 ClinVarVariant:10134 F8, EX7-9DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:2473810|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2126 MGI:4429385 Tg(Htt-ATXN3*148Q)3746Thsc NCBITaxon:10090 Mus musculus NCBIGene:4287 ATXN3 RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:19699305|PMID:19699305 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2127 ClinVarVariant:10124 F8, EX1-26DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:2105106 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2128 ClinVarVariant:10114 NM_000132.3(F8):c.5122C>T (p.Arg1708Cys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:2104766|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2901224|PMID:2378544|PMID:1569181|PMID:1569180 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2129 ClinVarVariant:10137 F8, EX5DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15357786|PMID:9302853|PMID:2378544|PMID:10734657|PMID:17498080 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2130 ClinVarVariant:10580 NM_000133.3(F9):c.329A>G (p.Asp110Gly) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2743975|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2131 ClinVarVariant:10590 NM_000133.3(F9):c.676C>T (p.Arg226Trp) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2592373|PMID:19187190|PMID:2162822 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2132 MGI:2388945 Ctns<tm1Antc> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:12370309 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2133 MGI:5007226 Lrrn1<tm1Lex> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence MGI:5000289|PMID:20562862 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2134 ClinVarVariant:10570 NM_000133.3(F9):c.79G>A (p.Glu27Lys) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:19187190|PMID:2929599 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
7
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
2135 MGI:3844445 Tg(Thy1-Nlgn2)6Hnes NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:18550748|PMID:18550748 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
9
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2136 ClinVarVariant:219159 NM_000551.3(VHL):c.509T>C (p.Val170Ala) NCBITaxon:9606 Homo sapiens NCBIGene:7428 VHL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2137 ClinVarVariant:10147 NM_000132.3(F8):c.6955C>T (p.Pro2319Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1908817|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2138 ClinVarVariant:10157 F8, 10-BP INS, FS NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8307558|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2139 dbSNP:rs17020489 rs17020489-A NCBITaxon:9606 Homo sapiens NCBIGene:102724542 LOC102724542 HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:9491171|PMID:17938043|PMID:25042611 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2140 MGI:1933974 Ntrk2<tm2Kln> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:10571233|PMID:18832146 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2141 ClinVarVariant:10107 F8, EX15DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7662970|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2142 MGI:1888773 Prnp<tm1Cwe> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006|ECO:0000006 experimental evidence|experimental evidence|experimental evidence PMID:19666958|PMID:19666958|PMID:19666958 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2143 ClinVarVariant:10117 F8, EX11-18DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:2861360 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2144 MGI:5509054 Uba6<tm1Whpr> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23499007 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2145 ClinVarVariant:10127 NM_000132.3(F8):c.6554T>C (p.Leu2185Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:2104741 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2146 ClinVarVariant:10167 NM_000132.3(F8):c.323A>C (p.Lys108Thr) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1908096|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2147 ClinVarVariant:53259 NM_000492.3(CFTR):c.1466C>A (p.Ser489Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2148 MGI:3578225 Gsk3a<tm1Dral> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20357757 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2149 MGI:3815322 Gt(ROSA)26Sor<tm1(Crh)Jde> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21885734 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2150 ClinVarVariant:2226 NM_000551.3(VHL):c.191G>C (p.Arg64Pro) NCBITaxon:9606 Homo sapiens NCBIGene:7428 VHL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:6829807|PMID:17474956|PMID:14605591|PMID:19569019|PMID:1576030|PMID:9663592 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2151 ClinVarVariant:91005 NM_000251.2(MSH2):c.2579C>A (p.Ser860Ter) NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21642682|PMID:19659756|PMID:8539655|PMID:23604856|PMID:15857188|PMID:18559331|PMID:21883167|PMID:17587321|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2152 ClinVarVariant:1357 NM_170740.1(ALDH5A1):c.612G>A (p.Trp204Ter) NCBITaxon:9606 Homo sapiens NCBIGene:7915 ALDH5A1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:14635103 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2153 ClinVarVariant:10204 NM_000132.3(F8):c.1175C>A (p.Ser392Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:6438527|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:8497853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2154 ClinVarVariant:188515 NM_000251.2(MSH2):c.1278_1386+1del NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2155 ClinVarVariant:91015 NM_000251.2(MSH2):c.2633_2634delAG (p.Glu878Alafs) NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2156 MGI:5308811 Tuba1a<Rgsc1736> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22101068 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2157 ClinVarVariant:218354 NM_183357.2(ADCY5):c.1253G>A (p.Arg418Gln) NCBITaxon:9606 Homo sapiens NCBIGene:111 ADCY5 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:26537056 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2158 ClinVarVariant:8975 NM_001079668.2(NKX2-1):c.908delG (p.Gly303Valfs) NCBITaxon:9606 Homo sapiens NCBIGene:7080 NKX2-1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:11971878 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2159 MGI:3487250 Dp(16Cbr1-Fam3b)1Rhr NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:19420260|PMID:19420260 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2160 ClinVarVariant:603 NM_000277.1(PAH):c.829T>G (p.Tyr277Asp) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:12655546|PMID:2035532 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2161 ClinVarVariant:18088 NM_000484.3(APP):c.2149G>A (p.Val717Ile) NCBITaxon:9606 Homo sapiens NCBIGene:351 APP HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10730508|PMID:19472156|PMID:15660409|PMID:17514358|PMID:19542627 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2162 ClinVarVariant:613 NM_000277.1(PAH):c.896T>G (p.Phe299Cys) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9781015|PMID:1301187|PMID:11385716|PMID:8304187|PMID:8831077|PMID:8533759|PMID:8889590|PMID:9391881|PMID:7913581|PMID:8632937|PMID:9634518|PMID:17924342|PMID:1312992|PMID:1312992|PMID:9642259|PMID:10980574|PMID:12655553|PMID:1312992 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2163 ClinVarVariant:10092 F8, EX23-25DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:3035554 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2164 MGI:4168877 Tmem43<Gt(OST62799)Lex> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence MGI:3510987|PMID:20562862 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2165 ClinVarVariant:96336 NM_015384.4(NIPBL):c.2479_2480delAG (p.Arg827Glyfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18430761|PMID:17640042|PMID:17845236|PMID:19309268|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2166 ClinVarVariant:2144 NM_015384.4(NIPBL):c.3616_3618delATA (p.Ile1206del) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15146185|PMID:18430761|PMID:17640042|PMID:17845236|PMID:19309268|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2167 ClinVarVariant:159089 NM_133433.3(NIPBL):c.358+1G>T NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2168 ClinVarVariant:159059 NM_133433.3(NIPBL):c.2500C>T (p.Arg834Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2169 ClinVarVariant:159229 NM_133433.3(NIPBL):c.737A>G (p.Asp246Gly) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2170 MGI:1857237 Prkcg<tm1Stl> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:10979601 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2171 ClinVarVariant:10292 NM_000132.3(F8):c.5710G>A (p.Glu1904Lys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:8307558|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2172 ClinVarVariant:159219 NM_133433.3(NIPBL):c.7062+2T>C NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2173 ClinVarVariant:10282 NM_000132.3(F8):c.5533A>C (p.Thr1845Pro) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1639429|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2174 MGI:3764690 Park2<tm1Ccs> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17883413 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2175 ClinVarVariant:159249 NM_015384.4(NIPBL):c.86delC (p.Pro29Hisfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2176 MGI:3768406 Tg(Prnp-MAPT*P301S)PS19Vle NCBITaxon:10090 Mus musculus NCBIGene:4137 MAPT RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:21698260|PMID:21698260 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2177 ClinVarVariant:159239 NM_133433.3(NIPBL):c.7849C>T (p.Gln2617Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2178 ClinVarVariant:623 NM_000277.1(PAH):c.1066-3C>T NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8098245|PMID:23357515|PMID:21147011|PMID:23430918|PMID:22841515|PMID:8098245|PMID:24350308|PMID:22698810|PMID:24368688|PMID:22526846|PMID:19444284|PMID:8533759|PMID:23942198|PMID:8098245|PMID:12655553|PMID:10394930|PMID:22698810|PMID:24350308|PMID:17935162|PMID:15464430|PMID:17502162|PMID:22513348 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2179 ClinVarVariant:18098 NM_000484.3(APP):c.2078A>G (p.Glu693Gly) NCBITaxon:9606 Homo sapiens NCBIGene:351 APP HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10730508|PMID:19472156|PMID:15660409|PMID:17514358|PMID:19542627 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2180 MGI:5560820 Mpst<tm1.1Nori> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23759691 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2181 ClinVarVariant:5777 NM_003919.2(SGCE):c.464_662del199 NCBITaxon:9606 Homo sapiens NCBIGene:64921 CASD1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16240355 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2182 MGI:3580568 Nsila5<C57BL/6J> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000304|ECO:0000304 traceable author statement used in manual assertion|traceable author statement used in manual assertion PMID:15904718|PMID:15904718 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2183 ClinVarVariant:10252 NM_000132.3(F8):c.3548_3549delAA (p.Lys1183Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:8307558 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2184 ClinVarVariant:10242 NM_000132.3(F8):c.1988C>T (p.Ala663Val) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:1924291|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2185 ClinVarVariant:30432 NM_015713.4(RRM2B):c.950delT (p.Leu317Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:50484 RRM2B HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:21646632 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2186 ClinVarVariant:8973 NM_001079668.2(NKX2-1):c.727C>A (p.Arg243Ser) NCBITaxon:9606 Homo sapiens NCBIGene:7080 NKX2-1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:11971878 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2187 ClinVarVariant:6896 NM_003002.3(SDHD):c.242C>T (p.Pro81Leu) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:11156372|PMID:11897817|PMID:11156372|PMID:6829807|PMID:11391796|PMID:14605591|PMID:11343322|PMID:10657297|PMID:12811540|PMID:11897817|PMID:11343322|PMID:17474956|PMID:11391796|PMID:12811540|PMID:19569019|PMID:1576030|PMID:10657297 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2188 ClinVarVariant:10232 NM_000132.3(F8):c.1804C>T (p.Arg602Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1349567|PMID:7728145|PMID:9302853|PMID:10734657|PMID:1979502|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2189 ClinVarVariant:10222 NM_000132.3(F8):c.1636C>T (p.Arg546Trp) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:7728145|PMID:15357786|PMID:8449505|PMID:2378544|PMID:1924291 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2190 ClinVarVariant:53314 NM_000492.3(CFTR):c.165-1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2191 ClinVarVariant:10272 NM_000132.3(F8):c.5325G>C (p.Leu1775Phe) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:6438527|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2192 ClinVarVariant:10262 F8, 2-BP DEL, GA NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:1908096|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2193 ClinVarVariant:188513 NM_000251.2(MSH2):c.475dupA (p.Arg159Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2194 ClinVarVariant:219294 NM_000179.2(MSH6):c.3632T>C (p.Leu1211Pro) NCBITaxon:9606 Homo sapiens NCBIGene:2956 MSH6 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2195 ClinVarVariant:10212 NM_000132.3(F8):c.1331A>G (p.Lys444Arg) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:1908096|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2196 MGI:2177766 Tg(Camk2a-cre)1Szi NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:22174697 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2197 ClinVarVariant:53374 NM_000492.3(CFTR):c.1753G>T (p.Glu585Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15480987|PMID:1284538|PMID:18456578|PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:22658665|PMID:12796866|PMID:23974870 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2198 ClinVarVariant:10202 NM_000132.3(F8):c.1043G>C (p.Cys348Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:6438527|PMID:2378544|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2199 ClinVarVariant:90837 NM_000251.2(MSH2):c.2005+1G>T NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2200 MGI:5296970 Fkbp5<tm1Dvds> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21935478 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2201 MGI:2387957 Kcnc2<tm1Rudy> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11124984 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2202 ClinVarVariant:1355 ALDH5A1, IVS9, G-T, +1 NCBITaxon:9606 Homo sapiens NCBIGene:7915 ALDH5A1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9683595|PMID:14635103 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2203 ClinVarVariant:10112 NM_000132.3(F8):c.5113C>T (p.Gln1705Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2105906|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2204 ClinVarVariant:10102 F8, EX4-25DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:2833855 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2205 ClinVarVariant:156506 NM_000251.2(MSH2):c.1271dupA (p.His424Glnfs) NCBITaxon:9606 Homo sapiens NCBIGene:4436 MSH2 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9774676|PMID:8539655|PMID:17531815|PMID:15857188|PMID:21883167|PMID:17587321|PMID:18822302|PMID:24362816|PMID:22773173 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2206 MGI:3580547 Nsila7 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059 experimental phenotypic evidence PMID:15904718 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2207 MGI:1857129 Apoe<tm1Unc> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006|ECO:0000006 experimental evidence|experimental evidence|experimental evidence PMID:15708438|PMID:10684907|PMID:15708438|PMID:15304509 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2208 ClinVarVariant:53244 NM_000492.3(CFTR):c.1397C>A (p.Ser466Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2209 ClinVarVariant:219154 NM_003000.2(SDHB):c.227T>G (p.Leu76Ter) NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:6829807|PMID:1576030|PMID:17474956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2210 MGI:3759300 Dlgap3<tm1Gfng> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17713528 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2211 MGI:3530818 S100a1<Gt(OST28275)Lex> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:17045663 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2212 ClinVarVariant:53214 NM_000492.3(CFTR):c.1209+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2213 ClinVarVariant:53204 NM_000492.3(CFTR):c.115C>T (p.Gln39Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:23974870|PMID:15480987|PMID:7541274|PMID:7866213|PMID:20171652|PMID:20495477|PMID:1284534|PMID:12796866|PMID:1376017 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2214 MGI:5646415 Mbtr3 NCBITaxon:10090 Mus musculus MGI:5646415 Mbtr3 RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2215 ClinVarVariant:90142 NM_000249.3(MLH1):c.306+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:4292 MLH1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17587321|PMID:8539655|PMID:15857188|PMID:22773173|PMID:21883167 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2216 ClinVarVariant:100729 NM_000520.5(HEXA):c.1305C>T (p.Tyr435=) NCBITaxon:9606 Homo sapiens NCBIGene:3073 HEXA HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20363167|PMID:696935|PMID:20597919|PMID:22789865|PMID:16301864|PMID:24767253|PMID:8355954|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2217 MGI:2181421 Tg(Camk2a-cre)1Gsc NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:19081379|PMID:14614101 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2218 MGI:1857070 Itpr3<tf> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:17559418 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2219 ClinVarVariant:159149 NM_133433.3(NIPBL):c.5428-2A>G NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2220 ClinVarVariant:159159 NM_133433.3(NIPBL):c.5732A>C (p.Gln1911Pro) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2221 MGI:1857279 Camk2a<tm1Sva> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:1378648 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2222 MGI:2673210 Npepps<goku> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:10407043 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2223 ClinVarVariant:159179 NM_133433.3(NIPBL):c.6170T>C (p.Leu2057Pro) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2224 ClinVarVariant:35831 NM_000492.3(CFTR):c.1692delA (p.Asp565Metfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2225 ClinVarVariant:211653 NM_133433.3(NIPBL):c.6108+2T>C NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2226 ClinVarVariant:35891 NM_000492.3(CFTR):c.846A>T (p.Glu282Asp) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2227 ClinVarVariant:211643 NM_133433.3(NIPBL):c.4965_4972delGCTTGATT (p.Asp1657Glyfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2228 MGI:2384535 Cckbr<tm1Tom> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:12459512 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2229 MGI:2387803 Cacna1b<tm1Ttan> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:11350923 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2230 ClinVarVariant:35861 NM_000492.3(CFTR):c.3095A>G (p.Tyr1032Cys) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2231 ClinVarVariant:159189 NM_133433.3(NIPBL):c.6343G>A (p.Gly2115Ser) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2232 ClinVarVariant:29896 NM_003000.2(SDHB):c.423+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:6390 SDHB HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:21348866|PMID:16405730 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2233 ClinVarVariant:159199 NM_133433.3(NIPBL):c.6571A>T (p.Lys2191Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2234 ClinVarVariant:10192 NM_000132.3(F8):c.902G>A (p.Arg301His) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:8449505|PMID:15357786|PMID:2378544|PMID:8281136|PMID:1908096 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2235 ClinVarVariant:10274 NM_000132.3(F8):c.5399G>A (p.Arg1800His) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7728145|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:1908096 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2236 ClinVarVariant:10264 NM_000132.3(F8):c.4858delC (p.Leu1620Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:8307558|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2237 ClinVarVariant:3552 NM_001042432.1(CLN3):c.461-280_677+382del NCBITaxon:9606 Homo sapiens NCBIGene:1201 CLN3 HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:9392580|PMID:9004140|PMID:7553855|PMID:17947292|PMID:9311735 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2238 ClinVarVariant:38726 NM_000492.3(CFTR):c.3773dupT (p.Leu1258Phefs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2239 ClinVarVariant:53396 NM_000492.3(CFTR):c.1820_1903del84 (p.Met607_Gln634del) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21520337|PMID:1284539|PMID:10875853|PMID:7866213|PMID:20171652|PMID:20495477|PMID:1373934|PMID:15858154|PMID:10777364|PMID:12796866|PMID:21474639|PMID:1373934|PMID:15371903|PMID:10361400|PMID:1284539 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2240 ClinVarVariant:10234 NM_000132.3(F8):c.1812G>C (p.Trp604Cys) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:8307558|PMID:10734657|PMID:6438527|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2241 ClinVarVariant:6898 NM_003002.3(SDHD):c.305A>T (p.His102Leu) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:10657297 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2242 MGI:3834477 Slitrk1<tm1Jaru> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18794888 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2243 MGI:1934023 Trpv1<tm1Jul> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:17251423 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2244 ClinVarVariant:10214 NM_000132.3(F8):c.1417T>C (p.Tyr473His) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:1908096 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2245 ClinVarVariant:53376 NM_000492.3(CFTR):c.1766+1G>C NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2246 ClinVarVariant:10224 NM_000132.3(F8):c.1648C>G (p.Arg550Gly) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:1924291 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2247 ClinVarVariant:10294 NM_000132.3(F8):c.5822A>G (p.Asn1941Ser) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:21217077|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1301932|PMID:2378544|PMID:1908096 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2248 ClinVarVariant:10284 NM_000132.3(F8):c.5558C>T (p.Ala1853Val) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:8307558|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2249 ClinVarVariant:7219 NM_000492.3(CFTR):c.1477_1478delCA (p.Gln493Valfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:1381442 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2250 ClinVarVariant:1360 NG_008161.1:g.31299_33753del2455 NCBITaxon:9606 Homo sapiens NCBIGene:7915 ALDH5A1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:16542398 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2251 ClinVarVariant:7209 NM_000492.3(CFTR):c.3212A>C (p.Gln1071Pro) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:7522211|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2252 MGI:3720069 Tg(Thy1-App*R609D*K612E)6Vln NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000059|ECO:0000006|ECO:0000006 experimental phenotypic evidence|experimental evidence|experimental evidence PMID:8635459|PMID:8635459|PMID:8635459 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2253 ClinVarVariant:15934 NM_000516.5(GNAS):c.602G>A (p.Arg201His) NCBITaxon:9606 Homo sapiens NCBIGene:2778 GNAS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:12970318|PMID:1594625|PMID:24855271|PMID:16507630|PMID:12727968|PMID:2549426|PMID:3720010|PMID:1944469 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2254 ClinVarVariant:10244 NM_000132.3(F8):c.2029T>C (p.Phe677Leu) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:6438527|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2255 MGI:5529061 Dcaf10<tm1.1(KOMP)Vlcg> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000015|ECO:0000006|ECO:0000015 mutant phenotype evidence|experimental evidence|mutant phenotype evidence MGI:5576271 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/impc.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2256 ClinVarVariant:209057 NM_000492.3(CFTR):c.3294G>A (p.Trp1098Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2257 MGI:5646425 Mbtr2 NCBITaxon:10090 Mus musculus MGI:5646425 Mbtr2 RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2258 ClinVarVariant:7239 NM_000492.3(CFTR):c.3731G>T (p.Gly1244Val) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:8528204|PMID:7866213|PMID:20171652|PMID:20495477|PMID:15744523|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2259 ClinVarVariant:10254 NM_000132.3(F8):c.3692delC (p.Pro1231Leufs) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:8281136|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2260 ClinVarVariant:180196 NM_015384.4(NIPBL):c.7637T>C (p.Leu2546Pro) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2261 ClinVarVariant:1477 HMBS, IVS6DS, G-C, +1 NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9225970 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2262 ClinVarVariant:7066 NM_007262.4(PARK7):c.446A>C (p.Asp149Ala) NCBITaxon:9606 Homo sapiens NCBIGene:11315 PARK7 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:12953260|PMID:23792957 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2263 MGI:3513042 Crhbp<tm1Afs> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:10500222|PMID:10500222 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2264 MGI:5776473 Tg(C9orf72)450BLagi NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence PMID:27112497|PMID:27112497 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2265 ClinVarVariant:1457 NM_000190.3(HMBS):c.500G>T (p.Arg167Leu) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:2025226 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2266 MGI:1931327 Nr3c1<tm2Gsc> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:10471508 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2267 ClinVarVariant:1467 NM_000190.3(HMBS):c.667G>A (p.Glu223Lys) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8270254 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2268 ClinVarVariant:6908 NM_003002.3(SDHD):c.94_95delTC (p.Ala33Ilefs) NCBITaxon:9606 Homo sapiens NCBIGene:6392 SDHD HP:0000740 Episodic paroxysmal anxiety ECO:0000501 evidence used in automatic assertion PMID:11323050 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2269 MGI:3580546 Nsila6 NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000059 experimental phenotypic evidence PMID:15904718 http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2270 ClinVarVariant:1447 NM_000190.3(HMBS):c.518G>A (p.Arg173Gln) NCBITaxon:9606 Homo sapiens NCBIGene:3145 HMBS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:1301948|PMID:2243128 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2271 dbSNP:rs17135859 rs17135859-C NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:9491171|PMID:17938043|PMID:21326311 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2272 ClinVarVariant:30554 WFS1, ARG228GLN NCBITaxon:9606 Homo sapiens NCBIGene:7466 WFS1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:18544103 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2273 ClinVarVariant:10304 NM_000132.3(F8):c.6046C>T (p.Arg2016Trp) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:1924291|PMID:2378544|PMID:7728145 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2274 ClinVarVariant:10314 NM_000132.3(F8):c.6533G>T (p.Arg2178Leu) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:7728145|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2275 ClinVarVariant:66101 NM_000492.3:c.1679+1.6kbA>G NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2276 ClinVarVariant:7114 NM_000492.3(CFTR):c.1687T>A (p.Tyr563Asn) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:2236053|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2277 ClinVarVariant:10334 NM_000132.3(F8):c.6968G>A (p.Arg2323His) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7728145|PMID:9302853|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2278 ClinVarVariant:10324 NM_000132.3(F8):c.6683G>T (p.Arg2228Leu) NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:1840568|PMID:10734657|PMID:17498080|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2279 ClinVarVariant:10344 F8, EX16-26DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:1559571|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2280 ClinVarVariant:7194 NM_000492.3(CFTR):c.3266G>A (p.Trp1089Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7520798|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2281 MGI:5052110 Tg(Mapt-MAPT*)#Hanr NCBITaxon:10090 Mus musculus NCBIGene:4137 MAPT RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence PMID:18490011|PMID:18490011 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2282 ClinVarVariant:208180 NM_000277.1(PAH):c.242C>A (p.Thr81Asn) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2283 ClinVarVariant:7184 NM_000492.3(CFTR):c.3857T>C (p.Phe1286Ser) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8097485|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2284 MGI:2158354 Mecp2<tm1.1Jae> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22119903 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2285 ClinVarVariant:7154 NM_000492.3(CFTR):c.1093_1094delCT (p.Leu365Trpfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:1284639|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2286 ClinVarVariant:7124 NM_000492.3(CFTR):c.3659delC (p.Thr1220Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:23974870|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:2236053 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2287 MGI:3687967 Clcn6<tm1Tjj> NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:16950870 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2288 ClinVarVariant:17992 NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe) NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:18376109|PMID:8340361|PMID:15486938|PMID:8358043|PMID:3878661|PMID:19072562|PMID:8520784|PMID:23547634|PMID:1905728|PMID:22016686 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2289 ClinVarVariant:7174 NM_000492.3(CFTR):c.2146A>T (p.Lys716Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:7683952 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2290 ClinVarVariant:17982 NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg) NCBITaxon:9606 Homo sapiens NCBIGene:5265 SERPINA1 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9116423|PMID:18376109|PMID:3878661|PMID:19072562|PMID:23547634|PMID:14985567 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2291 dbSNP:rs7948471 rs7948471-A NCBITaxon:9606 Homo sapiens NCBIGene:282763 OR51B5 HP:0000740 Episodic paroxysmal anxiety ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:23406172|PMID:21425450|PMID:9491171|PMID:17938043 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2292 ClinVarVariant:7144 NM_000492.3(CFTR):c.3472C>T (p.Arg1158Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:1371265 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2293 ClinVarVariant:7134 NM_000492.3(CFTR):c.1021_1022dupTC (p.Phe342Hisfs) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12833419|PMID:7550243|PMID:12796866|PMID:12865275|PMID:23974870|PMID:23974870|PMID:10361400|PMID:12833419|PMID:1990834 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2294 MGI:3042719 Nrxn2<tm1Sud> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:25423136 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2295 ClinVarVariant:209062 NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2296 MGI:4949899 Fgfbp3<tm1Tohe> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20851768 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2297 ClinVarVariant:209052 NM_000492.3(CFTR):c.(2988+1_2989-1)_(3367+1_3368-1)del NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2298 MGI:3528874 Kcnip3<tm1Lex> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19223600 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2299 MGI:3835761 Wfs1<tm1Koks> NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:19477223 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2300 MGI:2181809 Lgals1<tm1Rob> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23118208 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2301 ClinVarVariant:53536 NM_000492.3(CFTR):c.2657+2_2657+3insA NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:11101688|PMID:7866213|PMID:20171652|PMID:20495477|PMID:16189704|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2302 ClinVarVariant:92738 NM_000277.1(PAH):c.204A>T (p.Arg68Ser) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9634518|PMID:21871829|PMID:15464430|PMID:10693064|PMID:17935162|PMID:23074961|PMID:24350308|PMID:11326337|PMID:23430918|PMID:16143554|PMID:15557004|PMID:11524738|PMID:23500595|PMID:8889590|PMID:11678552|PMID:17513426|PMID:10495930|PMID:12655553|PMID:10394930|PMID:22841515|PMID:19609714 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2303 ClinVarVariant:100680 NM_007059.3(KPTN):c.714_731dup18 (p.Gln246_Asp247insMetTrpSerValLeuGln) NCBITaxon:9606 Homo sapiens NCBIGene:11133 KPTN HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:24239382 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2304 ClinVarVariant:8490 NM_001127221.1(CACNA1A):c.5428A>C (p.Ile1810Leu) NCBITaxon:9606 Homo sapiens NCBIGene:773 CACNA1A HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:8734765|PMID:8898206 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2305 ClinVarVariant:53516 NM_000492.3(CFTR):c.2589_2599delAATTTGGTGCT (p.Ile864Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2306 ClinVarVariant:15152 NM_000518.4(HBB):c.364G>C (p.Glu122Gln) NCBITaxon:9606 Homo sapiens NCBIGene:3043 HBB HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:9491171|PMID:17938043|PMID:3375880|PMID:21425450 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2307 ClinVarVariant:7234 CFTR, ALA445GLU NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12503104|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2308 ClinVarVariant:7204 NM_000492.3(CFTR):c.2668C>T (p.Gln890Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:23974870|PMID:7522211|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2309 ClinVarVariant:225200 NM_152296.4(ATP1A3):c.946G>A (p.Gly316Ser) NCBITaxon:9606 Homo sapiens NCBIGene:478 ATP1A3 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:26990090 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2310 ClinVarVariant:5769 NM_003919.2(SGCE):c.304C>T (p.Arg102Ter) NCBITaxon:9606 Homo sapiens NCBIGene:64921 CASD1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:11528394|PMID:12874409 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2311 MGI:3776627 Tg(tetO-S100a10)1Pggd NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16400147 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2312 MGI:3604461 B3gnt2<tm1Dgen> NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence MGI:3604450 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2313 ClinVarVariant:120273 NM_000277.1(PAH):c.350C>T (p.Thr117Ile) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2314 ClinVarVariant:120263 NM_000277.1(PAH):c.1196T>C (p.Val399Ala) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2315 ClinVarVariant:2408 NM_032409.2(PINK1):c.1040T>C (p.Leu347Pro) NCBITaxon:9606 Homo sapiens NCBIGene:100861548 PINK1-AS HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:15824318|PMID:15349870|PMID:15596610 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2316 ClinVarVariant:7214 NM_000492.3(CFTR):c.3659C>T (p.Thr1220Ile) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7522211|PMID:10361400|PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2317 ClinVarVariant:120293 NM_000277.1(PAH):c.912+3A>C NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2318 ClinVarVariant:120283 NM_000277.1(PAH):c.632C>T (p.Pro211Leu) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2319 ClinVarVariant:218899 NM_019026.4(TMCO1):c.476+3G>C NCBITaxon:9606 Homo sapiens NCBIGene:54499 TMCO1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:24424126 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2320 ClinVarVariant:54007 NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:10361400|PMID:22020151|PMID:7866213|PMID:20171652|PMID:20495477|PMID:24525081|PMID:22658665|PMID:20059485|PMID:12796866 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2321 ClinVarVariant:5779 NM_003919.2(SGCE):c.619_620delAG (p.Arg207Glyfs) NCBITaxon:9606 Homo sapiens NCBIGene:64921 CASD1 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:17101905 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2322 ClinVarVariant:615 NM_000277.1(PAH):c.1045T>C (p.Ser349Pro) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:7860062|PMID:1301193|PMID:8095248 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2323 ClinVarVariant:10094 F8, EX26DEL NCBITaxon:9606 Homo sapiens NCBIGene:2157 F8 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9302853|PMID:10734657|PMID:17498080|PMID:7662970|PMID:15357786|PMID:2378544 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2324 MGI:5567078 Nlgn2<tm1.1Sud> NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:25824299 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2325 MGI:3512173 Grin3b<tm1Yaha> NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17880385 http://data.monarchinitiative.org/ttl/mgi.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2326 MGI:2448269 tmgc8 NCBITaxon:10090 Mus musculus MGI:2448269 tmgc8 RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence MGI:2448159 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mgi_slim.ttl direct
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2327 ClinVarVariant:31175 NM_145239.2(PRRT2):c.516dupT (p.Glu173Terfs) NCBITaxon:9606 Homo sapiens NCBIGene:112476 PRRT2 HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:22832103 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2328 ClinVarVariant:625 NM_000277.1(PAH):c.1169A>G (p.Glu390Gly) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:10472529|PMID:8098245 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2329 ClinVarVariant:605 NM_000277.1(PAH):c.117C>G (p.Phe39Leu) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:2063869 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2330 ClinVarVariant:635 NM_000277.1(PAH):c.1220C>T (p.Pro407Leu) NCBITaxon:9606 Homo sapiens NCBIGene:5053 PAH HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion PMID:9950317 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2331 ClinVarVariant:54097 NM_000492.3(CFTR):c.987delA (p.Gly330Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2332 ClinVarVariant:2146 NM_133433.3(NIPBL):c.5167C>T (p.Arg1723Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15318302|PMID:18430761|PMID:17640042|PMID:17845236|PMID:19309268|PMID:19330433|PMID:15146186 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2333 ClinVarVariant:13399 NM_000311.3(PRNP):c.532G>A (p.Asp178Asn) NCBITaxon:9606 Homo sapiens NCBIGene:5621 PRNP HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:12205650|PMID:9751723|PMID:1469441|PMID:1671983|PMID:19038218|PMID:1671440|PMID:1684756|PMID:1353342|PMID:1353344|PMID:16227536|PMID:7709737|PMID:1353341 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2334 ClinVarVariant:10589 NM_000133.3(F9):c.655C>T (p.Gln219Ter) NCBITaxon:9606 Homo sapiens NCBIGene:2158 F9 HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:3817455|PMID:7875359|PMID:18700841|PMID:10734657|PMID:2773937|PMID:19187190 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2335 ClinVarVariant:159124 NM_015384.4(NIPBL):c.4663delG (p.Glu1555Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2336 ClinVarVariant:159134 NM_015384.4(NIPBL):c.5033_5039delCCCAGTG (p.Ala1678Glyfs) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2337 ClinVarVariant:53984 NM_000492.3(CFTR):c.50delT (p.Phe17Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2338 ClinVarVariant:209047 NM_000492.3(CFTR):c.1210-12[5] NCBITaxon:9606 Homo sapiens NCBIGene:1080 CFTR HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7866213|PMID:20171652|PMID:20495477|PMID:12796866|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred
5fa1f0ca69cc planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
nathandunn
parents: 7
diff changeset
2339 ClinVarVariant:159104 NM_133433.3(NIPBL):c.4017C>A (p.Tyr1339Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25836 NIPBL HP:0000740 Episodic paroxysmal anxiety ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17845236|PMID:19309268|PMID:19330433|PMID:18430761|PMID:17640042 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred