Mercurial > repos > nathandunn > monarchinitiative
annotate test-data/variants-for-phenotypes-union.tsv @ 6:307ec8cd152e draft
planemo upload commit faa030eefa1a86bdf79c4ad1082fd8b5df9efd7a-dirty
author | nathandunn |
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date | Wed, 29 Jun 2016 14:17:39 -0400 |
parents | 850bb90bd667 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1 ClinVarVariant:53226 NM_000492.3(CFTR):c.1315C>T (p.Pro439Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2 ClinVarVariant:53236 NM_000492.3(CFTR):c.1366G>T (p.Val456Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3 ClinVarVariant:4301 NM_001005741.2(GBA):c.754T>A (p.Phe252Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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4 ClinVarVariant:4311 NM_001005741.2(GBA):c.1604G>A (p.Arg535His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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5 ClinVarVariant:53206 NM_000492.3(CFTR):c.1175T>C (p.Val392Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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6 ClinVarVariant:4321 NM_001005741.2(GBA):c.259C>T (p.Arg87Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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7 MGI:4429385 Tg(Htt-ATXN3*148Q)3746Thsc NCBITaxon:10090 Mus musculus NCBIGene:4287 ATXN3 MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19699305 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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8 ClinVarVariant:54057 NM_000492.3(CFTR):c.775delCinsTCTTCCTCAGATTCATTGTGATTACCTCA (p.Leu259Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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9 ClinVarVariant:54087 NM_000492.3(CFTR):c.92G>T (p.Arg31Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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10 ClinVarVariant:54097 NM_000492.3(CFTR):c.987delA (p.Gly330Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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11 ClinVarVariant:5779 NM_003919.2(SGCE):c.619_620delAG (p.Arg207Glyfs) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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12 ClinVarVariant:10094 F8, EX26DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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13 ClinVarVariant:54027 NM_000492.3(CFTR):c.614C>G (p.Pro205Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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14 MGI:3512173 Grin3b<tm1Yaha> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17880385 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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15 ClinVarVariant:5769 NM_003919.2(SGCE):c.304C>T (p.Arg102Ter) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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16 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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17 MGI:3604461 B3gnt2<tm1Dgen> 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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18 ClinVarVariant:120293 NM_000277.1(PAH):c.912+3A>C 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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19 ClinVarVariant:4291 NM_001005741.2(GBA):c.476G>A (p.Arg159Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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20 ClinVarVariant:53176 NM_000492.3(CFTR):c.1059A>C (p.Gln353His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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21 ClinVarVariant:120283 NM_000277.1(PAH):c.632C>T (p.Pro211Leu) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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22 ClinVarVariant:53316 NM_000492.3(CFTR):c.165-3C>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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23 ClinVarVariant:53166 NM_000492.3(CFTR):c.1018delA (p.Ile340Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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24 ClinVarVariant:120273 NM_000277.1(PAH):c.350C>T (p.Thr117Ile) 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 |
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25 ClinVarVariant:53156 NM_000492.3(CFTR):c.*80T>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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26 dbSNP:rs6545817 rs6545817-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:21326311|PMID:9491171|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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27 ClinVarVariant:120263 NM_000277.1(PAH):c.1196T>C (p.Val399Ala) 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 |
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28 NCBIGene:2973 GTS NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8173824|PMID:1564054|PMID:8425124|PMID:23418216|PMID:20063404 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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29 ClinVarVariant:53196 NM_000492.3(CFTR):c.1125A>C (p.Leu375Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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30 ClinVarVariant:605 NM_000277.1(PAH):c.117C>G (p.Phe39Leu) 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 |
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31 ClinVarVariant:635 NM_000277.1(PAH):c.1220C>T (p.Pro407Leu) 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 |
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32 ClinVarVariant:54047 NM_000492.3(CFTR):c.721G>A (p.Gly241Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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33 ClinVarVariant:53326 NM_000492.3(CFTR):c.1670delC (p.Ser557Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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34 ClinVarVariant:91005 NM_000251.2(MSH2):c.2579C>A (p.Ser860Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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35 ClinVarVariant:1357 NM_170740.1(ALDH5A1):c.612G>A (p.Trp204Ter) 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 |
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36 ClinVarVariant:9854 NM_000044.3(AR):c.2596T>C (p.Ser866Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17132758|PMID:17707426|PMID:21801726|PMID:18775430|PMID:1635303 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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37 MGI:3578225 Gsk3a<tm1Dral> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20357757 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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38 dbSNP:rs7584113 rs7584113-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21326311|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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39 MGI:3815322 Gt(ROSA)26Sor<tm1(Crh)Jde> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21885734 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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40 MGI:4868760 Atmin<tm1Axbe> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20889973 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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41 ClinVarVariant:10174 F8, TYR118ILE NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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42 ClinVarVariant:68435 NM_001127221.1(CACNA1A):c.5047T>C (p.Trp1683Arg) 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 |
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43 MGI:3640817 Ntrk2<tm1.1Tes> MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:19158294|PMID:19158294 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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44 ClinVarVariant:10194 NM_000132.3(F8):c.907delG (p.Ala303Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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45 MGI:2182878 Adcyap1<tm1Aba> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:11687615 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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46 ClinVarVariant:10184 F8, IVS6AS, G-C, -1 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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47 ClinVarVariant:102837 NM_000277.1(PAH):c.796A>G (p.Thr266Ala) 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 |
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48 ClinVarVariant:155757 NM_000044.3:c.1363GGT(2_4)GGC(12_29) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17132758|PMID:17707426|PMID:21801726|PMID:18775430|PMID:1635303 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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49 ClinVarVariant:102817 NM_000277.1(PAH):c.740G>A (p.Gly247Asp) 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 |
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50 MGI:4359727 Dp(7Herc2-Mkrn3)1Taku NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19563756 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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51 ClinVarVariant:53964 NM_000492.3(CFTR):c.481T>A (p.Tyr161Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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52 ClinVarVariant:93455 NM_001005741.2(GBA):c.625C>T (p.Arg209Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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53 ClinVarVariant:53934 NM_000492.3(CFTR):c.4252G>T (p.Glu1418Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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54 ClinVarVariant:159134 NM_015384.4(NIPBL):c.5033_5039delCCCAGTG (p.Ala1678Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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55 ClinVarVariant:53984 NM_000492.3(CFTR):c.50delT (p.Phe17Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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56 ClinVarVariant:209047 NM_000492.3(CFTR):c.350G>A (p.Arg117His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20495477|PMID:10361400|PMID:20171652|PMID:12796866|PMID:7866213 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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57 ClinVarVariant:159104 NM_133433.3(NIPBL):c.4017C>A (p.Tyr1339Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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58 ClinVarVariant:7219 NM_000492.3(CFTR):c.1477_1478delCA (p.Gln493Valfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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59 ClinVarVariant:161253 NM_000190.3(HMBS):c.674G>A (p.Arg225Gln) 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 |
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60 ClinVarVariant:1360 NG_008161.1:g.31299_33753del 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 |
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61 ClinVarVariant:102850 NM_000277.1(PAH):c.812A>G (p.His271Arg) 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 |
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62 ClinVarVariant:7209 NM_000492.3(CFTR):c.3212A>C (p.Gln1071Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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63 ClinVarVariant:53944 NM_000492.3(CFTR):c.44dupT (p.Ser18Glnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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64 MGI:2178959 Mdk<tm1Tmu> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10096022 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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65 ClinVarVariant:12534 NM_000660.5(TGFB1):c.29C>T (p.Pro10Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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66 ClinVarVariant:209067 NM_000492.3(CFTR):c.(1766+1_1767-1)_(2619+1_2620-1)del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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67 ClinVarVariant:159124 NM_015384.4(NIPBL):c.4663delG (p.Glu1555Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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68 ClinVarVariant:53994 NM_000492.3(CFTR):c.54-1161_164+1603del2875 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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69 dbSNP:rs1403543 rs1403543-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:21602797|PMID:10361400 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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70 ClinVarVariant:209057 NM_000492.3(CFTR):c.3294G>A (p.Trp1098Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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71 ClinVarVariant:159114 NM_133433.3(NIPBL):c.4321-15A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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72 MGI:5646425 Mbtr2 NCBITaxon:10090 Mus musculus MGI:5646425 Mbtr2 MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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73 ClinVarVariant:53974 NM_000492.3(CFTR):c.490-1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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74 ClinVarVariant:159144 NM_133433.3(NIPBL):c.5330T>G (p.Ile1777Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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75 MGI:3720069 Tg(Thy1-App*R609D*K612E)6Vln NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:8635459|PMID:8635459 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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76 MGI:2445612 Ptpra<tm1Cjp> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:12932834 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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77 MGI:5618129 Gpr52<tm1Kohi> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:24587241 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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78 ClinVarVariant:159154 NM_133433.3(NIPBL):c.5483G>A (p.Arg1828Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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79 ClinVarVariant:159184 NM_133433.3(NIPBL):c.6266T>G (p.Val2089Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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80 ClinVarVariant:10569 F9, ARG-4GLN NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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81 MGI:2183727 Mecp2<tm1Hzo> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:12160743 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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82 MGI:2136279 Tac1<tm1Pig> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:12427862 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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83 ClinVarVariant:53884 NM_000492.3(CFTR):c.4086dupT (p.Lys1363Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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84 ClinVarVariant:54000 NM_000492.3(CFTR):c.558C>A (p.Asn186Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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85 ClinVarVariant:159034 NM_015384.4(NIPBL):c.1447_1448delGA (p.Glu483Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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86 ClinVarVariant:54030 NM_000492.3(CFTR):c.625G>T (p.Ala209Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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87 ClinVarVariant:159044 NM_133433.3(NIPBL):c.2065A>T (p.Asn689Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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88 ClinVarVariant:54040 NM_000492.3(CFTR):c.680T>G (p.Leu227Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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89 ClinVarVariant:53844 NM_000492.3(CFTR):c.3896C>T (p.Thr1299Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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90 ClinVarVariant:53864 NM_000492.3(CFTR):c.3964-3C>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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91 ClinVarVariant:53854 NM_000492.3(CFTR):c.3922G>T (p.Glu1308Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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92 ClinVarVariant:53874 NM_000492.3(CFTR):c.4015C>T (p.Leu1339Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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93 ClinVarVariant:5772 NM_003919.2(SGCE):c.835_839delACAAA (p.Thr279Alafs) 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 |
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94 ClinVarVariant:54050 NM_000492.3(CFTR):c.741C>G (p.Tyr247Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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95 ClinVarVariant:159054 NM_133433.3(NIPBL):c.2422C>T (p.Arg808Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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96 ClinVarVariant:159064 NM_015384.4(NIPBL):c.2773_2774delAA (p.Lys925Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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97 ClinVarVariant:53894 NM_000492.3(CFTR):c.4123C>A (p.His1375Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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98 ClinVarVariant:159024 NM_015384.4(NIPBL):c.1003delG (p.Glu335Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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99 ClinVarVariant:54020 NM_000492.3(CFTR):c.597T>G (p.His199Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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100 ClinVarVariant:54080 NM_000492.3(CFTR):c.889C>T (p.Arg297Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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101 ClinVarVariant:159084 NM_015384.4(NIPBL):c.3461_3462delCT (p.Ser1154Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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102 ClinVarVariant:90832 NM_000251.2(MSH2):c.1A>C (p.Met1Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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103 ClinVarVariant:9969 NM_002024.5(FMR1):c.911T>A (p.Ile304Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19429055|PMID:18297385|PMID:14994287|PMID:16176388|PMID:10972251 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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104 ClinVarVariant:127770 NM_000535.5(PMS2):c.2012C>T (p.Thr671Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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105 ClinVarVariant:7229 NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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106 MGI:4867852 Lsamp<tm1Jinn> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20888367 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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107 MGI:1856716 Myo7a<sh1> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence MGI:63673 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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108 ClinVarVariant:53434 NM_000492.3(CFTR):c.2053C>T (p.Gln685Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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109 MGI:3603321 Grm8<tm1Duv> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16045496 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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110 ClinVarVariant:53414 NM_000492.3(CFTR):c.1915G>T (p.Asp639Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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111 ClinVarVariant:6916 NM_003002.3(SDHD):c.14G>A (p.Trp5Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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112 ClinVarVariant:7064 NM_007262.4(PARK7):c.497T>C (p.Leu166Pro) 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 |
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113 ClinVarVariant:1485 NM_000190.3(HMBS):c.242T>C (p.Leu81Pro) 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 |
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114 ClinVarVariant:625 NM_000277.1(PAH):c.1169A>G (p.Glu390Gly) 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 |
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115 ClinVarVariant:54037 NM_000492.3(CFTR):c.659A>G (p.Gln220Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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116 ClinVarVariant:53356 NM_000492.3(CFTR):c.1712T>C (p.Leu571Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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117 MGI:5308811 Tuba1a<Rgsc1736> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22101068 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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118 ClinVarVariant:53366 NM_000492.3(CFTR):c.1738delG (p.Val580Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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119 ClinVarVariant:10204 F8, SER373TER NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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120 ClinVarVariant:188515 NM_000251.2(MSH2):c.1278_1386+1del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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121 ClinVarVariant:53336 NM_000492.3(CFTR):c.1679+5A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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122 ClinVarVariant:10124 F8, EX1-26DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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123 ClinVarVariant:53276 NM_000492.3(CFTR):c.1517T>C (p.Ile506Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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124 ClinVarVariant:10114 NM_000132.3(F8):c.5122C>T (p.Arg1708Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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125 MGI:2386577 Pax5<tm3Mbu> 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 |
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126 ClinVarVariant:53266 NM_000492.3(CFTR):c.148T>C (p.Ser50Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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127 ClinVarVariant:10144 F8, EX13DUP NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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128 ClinVarVariant:10134 F8, EX7-9DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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129 ClinVarVariant:53256 NM_000492.3(CFTR):c.1445dupT (p.Lys483Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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130 ClinVarVariant:53246 NM_000492.3(CFTR):c.1399C>T (p.Leu467Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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131 ClinVarVariant:215752 NM_000492.3(CFTR):c.3759G>A (p.Leu1253=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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132 ClinVarVariant:10164 NM_000132.3(F8):c.275G>T (p.Gly92Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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133 ClinVarVariant:8933 NM_000179.2(MSH6):c.1602delC (p.Tyr535Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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134 ClinVarVariant:10154 NM_000132.3(F8):c.89A>T (p.Glu30Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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135 MGI:2682895 L1cam<tm1Fmo> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:14614101 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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136 ClinVarVariant:30554 WFS1, ARG228GLN 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 |
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137 ClinVarVariant:53466 NM_000492.3(CFTR):c.2276_2277delCC (p.Pro759Hisfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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138 ClinVarVariant:10304 NM_000132.3(F8):c.6046C>T (p.Arg2016Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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139 ClinVarVariant:53426 NM_000492.3(CFTR):c.2013_2015delAGA (p.Glu672del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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140 ClinVarVariant:53436 NM_000492.3(CFTR):c.2077T>C (p.Phe693Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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141 ClinVarVariant:1447 NM_000190.3(HMBS):c.518G>A (p.Arg173Gln) 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 |
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142 MGI:1931327 Nr3c1<tm2Gsc> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:10471508 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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143 ClinVarVariant:7066 NM_007262.4(PARK7):c.446A>C (p.Asp149Ala) 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 |
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144 ClinVarVariant:10344 F8, EX16-26DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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145 ClinVarVariant:7124 NM_000492.3(CFTR):c.3659delC (p.Thr1220Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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146 ClinVarVariant:15934 NM_001077488.3(GNAS):c.605G>A (p.Arg202His) 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 |
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147 ClinVarVariant:13370 NM_001042465.1(PSAP):c.1153T>G (p.Cys385Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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148 ClinVarVariant:53446 NM_000492.3(CFTR):c.215C>A (p.Ala72Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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149 ClinVarVariant:53456 NM_000492.3(CFTR):c.221G>A (p.Arg74Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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150 dbSNP:rs1896294 rs1896294-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21326311|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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151 ClinVarVariant:66101 NM_000492.3:c.1679+1.6kbA>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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152 ClinVarVariant:126966 NM_017849.3(TMEM127):c.265_268delACAG (p.Thr89Cysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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153 MGI:3513042 Crhbp<tm1Afs> 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 |
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154 ClinVarVariant:53476 NM_000492.3(CFTR):c.233delT (p.Phe78Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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155 ClinVarVariant:10314 NM_000132.3(F8):c.6533G>T (p.Arg2178Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:9302853|PMID:10734657|PMID:15357786 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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156 ClinVarVariant:53496 NM_000492.3(CFTR):c.2488A>T (p.Lys830Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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157 ClinVarVariant:10334 NM_000132.3(F8):c.6968G>A (p.Arg2323His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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158 ClinVarVariant:53486 NM_000492.3(CFTR):c.2411A>T (p.Glu804Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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159 ClinVarVariant:1467 NM_000190.3(HMBS):c.667G>A (p.Glu223Lys) 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 |
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160 ClinVarVariant:6908 NM_003002.3(SDHD):c.94_95delTC (p.Ala33Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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161 ClinVarVariant:180196 NM_015384.4(NIPBL):c.7637T>C (p.Leu2546Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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162 ClinVarVariant:53406 NM_000492.3(CFTR):c.1859A>C (p.His620Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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163 ClinVarVariant:1477 HMBS, IVS6DS, G-C, +1 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 |
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164 ClinVarVariant:53416 NM_000492.3(CFTR):c.1966G>T (p.Glu656Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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165 ClinVarVariant:10294 NM_000132.3(F8):c.5822A>G (p.Asn1941Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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166 ClinVarVariant:10274 NM_000132.3(F8):c.5399G>A (p.Arg1800His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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167 ClinVarVariant:10264 NM_000132.3(F8):c.4858delC (p.Leu1620Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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168 ClinVarVariant:211995 NM_006265.2(RAD21):c.592_593dupAG (p.Ser198Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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169 ClinVarVariant:198424 NM_000492.3(CFTR):c.848_860delAAATGATTGAAAAinsTG (p.Lys283Metfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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170 ClinVarVariant:10284 NM_000132.3(F8):c.5558C>T (p.Ala1853Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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171 ClinVarVariant:3552 NM_001042432.1(CLN3):c.461-280_677+382del NCBITaxon:9606 Homo sapiens 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 |
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172 ClinVarVariant:38726 NM_000492.3(CFTR):c.3773dupT (p.Leu1258Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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173 ClinVarVariant:53396 NM_000492.3(CFTR):c.1820_1903del84 (p.Met607_Gln634del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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174 ClinVarVariant:10234 F8, TRP585CYS NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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175 ClinVarVariant:6898 NM_003002.3(SDHD):c.305A>T (p.His102Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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176 MGI:3834477 Slitrk1<tm1Jaru> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18794888 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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177 MGI:1934023 Trpv1<tm1Jul> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:17251423 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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178 ClinVarVariant:7224 NM_000492.3(CFTR):c.2988+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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179 dbSNP:rs826221 rs826221-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:24058526|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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180 ClinVarVariant:53596 NM_000492.3(CFTR):c.2916_2917delTCinsAT (p.Leu973Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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181 ClinVarVariant:7234 CFTR, ALA445GLU NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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182 ClinVarVariant:7204 NM_000492.3(CFTR):c.2668C>T (p.Gln890Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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183 ClinVarVariant:53576 NM_000492.3(CFTR):c.2836A>T (p.Lys946Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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184 ClinVarVariant:2408 NM_032409.2(PINK1):c.1040T>C (p.Leu347Pro) 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 |
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185 ClinVarVariant:7214 NM_000492.3(CFTR):c.3659C>T (p.Thr1220Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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186 ClinVarVariant:10244 F8, PHE658LEU NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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187 ClinVarVariant:53546 NM_000492.3(CFTR):c.2706C>G (p.Ser902Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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188 ClinVarVariant:100680 NM_007059.3(KPTN):c.714_731dup18 (p.Gln246_Asp247insMetTrpSerValLeuGln) 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 |
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189 ClinVarVariant:8490 NM_001127221.1(CACNA1A):c.5428A>C (p.Ile1810Leu) 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 |
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190 ClinVarVariant:53586 NM_000492.3(CFTR):c.2883G>T (p.Met961Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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191 ClinVarVariant:53556 NM_000492.3(CFTR):c.274-2A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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192 ClinVarVariant:53566 NM_000492.3(CFTR):c.2775_2776delTT (p.Leu926Alafs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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193 ClinVarVariant:53536 NM_000492.3(CFTR):c.2657+2_2657+3insA NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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194 ClinVarVariant:92738 NM_000277.1(PAH):c.204A>T (p.Arg68Ser) 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 |
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195 ClinVarVariant:53516 NM_000492.3(CFTR):c.2589_2599delAATTTGGTGCT (p.Ile864Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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196 ClinVarVariant:4631 SMC3, 3-BP DEL, 1464AGA NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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197 ClinVarVariant:53526 NM_000492.3(CFTR):c.2619G>A (p.Glu873=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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198 ClinVarVariant:53506 NM_000492.3(CFTR):c.2508delT (p.Asp836Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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199 ClinVarVariant:127232 NM_000806.5(GABRA1):c.655G>A (p.Asp219Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21703932|PMID:11319492|PMID:19453714|PMID:21683658|PMID:21041102 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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200 ClinVarVariant:209062 NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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201 ClinVarVariant:209052 NM_000492.3(CFTR):c.(2988+1_2989-1)_(3367+1_3368-1)del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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202 MGI:4949899 Fgfbp3<tm1Tohe> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20851768 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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203 MGI:3528874 Kcnip3<tm1Lex> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19223600 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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204 ClinVarVariant:10214 NM_000132.3(F8):c.1417T>C (p.Tyr473His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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205 ClinVarVariant:53376 NM_000492.3(CFTR):c.1766+1G>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20495477|PMID:10361400|PMID:20171652|PMID:12796866|PMID:7866213 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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206 ClinVarVariant:10254 NM_000132.3(F8):c.3692delC (p.Pro1231Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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207 MGI:3042719 Nrxn2<tm1Sud> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:25423136 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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208 MGI:3835761 Wfs1<tm1Koks> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:19477223 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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209 ClinVarVariant:7144 NM_000492.3(CFTR):c.3472C>T (p.Arg1158Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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210 ClinVarVariant:7134 NM_000492.3(CFTR):c.1021_1022dupTC (p.Phe342Hisfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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211 MGI:2158354 Mecp2<tm1.1Jae> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22119903 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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212 ClinVarVariant:7154 NM_000492.3(CFTR):c.1093_1094delCT (p.Leu365Trpfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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213 ClinVarVariant:17962 NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19072562|PMID:18376109|PMID:9116423|PMID:3878661|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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214 MGI:5052110 Tg(Mapt-MAPT*)#Hanr NCBITaxon:10090 Mus musculus NCBIGene:4137 microtubule associated protein tau MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18490011 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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215 ClinVarVariant:208180 NM_000277.1(PAH):c.242C>A (p.Thr81Asn) 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 |
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216 ClinVarVariant:7184 NM_000492.3(CFTR):c.3857T>C (p.Phe1286Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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217 ClinVarVariant:17992 NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19072562|PMID:18376109|PMID:9116423|PMID:3878661|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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218 ClinVarVariant:7174 NM_000492.3(CFTR):c.2146A>T (p.Lys716Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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219 MGI:2181809 Lgals1<tm1Rob> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23118208 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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220 MGI:3687967 Clcn6<tm1Tjj> HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:16950870 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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221 ClinVarVariant:7194 NM_000492.3(CFTR):c.3266G>A (p.Trp1089Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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222 ClinVarVariant:159094 NM_015384.4(NIPBL):c.3804_3818delCTTGGAGAAGAATAT (p.Leu1269_Ile1273del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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223 ClinVarVariant:13365 NM_001042465.1(PSAP):c.1A>T (p.Met1Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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224 ClinVarVariant:16155 NM_001018077.1(NR3C1):c.2318T>C (p.Leu773Pro) 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 |
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225 MGI:3575505 Ehmt1<tm1Yshk> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19896504 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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226 MGI:2678096 Crhr1<tm2Wrst> MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:21885734|PMID:12973355 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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227 ClinVarVariant:10329 NM_000132.3(F8):c.6794_6795delAG (p.Gln2265Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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228 ClinVarVariant:96351 NM_015384.4(NIPBL):c.7047T>G (p.Tyr2349Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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229 ClinVarVariant:30559 NM_006005.3(WFS1):c.2338G>A (p.Gly780Ser) 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 |
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230 ClinVarVariant:17977 NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19072562|PMID:18376109|PMID:9116423|PMID:3878661|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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231 ClinVarVariant:17967 NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19072562|PMID:18376109|PMID:9116423|PMID:3878661|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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232 ClinVarVariant:43580 NM_000492.3(CFTR):c.964G>A (p.Val322Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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233 ClinVarVariant:7139 NM_000492.3(CFTR):c.1000C>T (p.Arg334Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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234 MGI:3530090 B4galt5<Gt(OST202518)Lex> 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 |
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235 ClinVarVariant:14206 CCL2, 767C-G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12098612|PMID:3167473|PMID:22276472|PMID:2751944|PMID:2801829 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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236 ClinVarVariant:7119 NM_000492.3(CFTR):c.1721C>A (p.Pro574His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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237 ClinVarVariant:11673 NM_006306.3(SMC1A):c.1478A>C (p.Glu493Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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238 ClinVarVariant:10339 F8, EX5-13DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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239 ClinVarVariant:7149 NM_000492.3(CFTR):c.2737_2738insG (p.Tyr913Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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240 ClinVarVariant:53924 NM_000492.3(CFTR):c.422C>A (p.Ala141Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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241 ClinVarVariant:7199 NM_000492.3(CFTR):c.273+4A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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242 ClinVarVariant:212266 NM_001281463.1(SMC1A):c.1980_1982delAGA (p.Glu662del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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243 ClinVarVariant:7179 NM_000492.3(CFTR):c.171G>A (p.Trp57Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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244 MGI:3814702 Tc(HSA21)1TybEmcf NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:21047530|PMID:21047530 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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245 ClinVarVariant:53914 NM_000492.3(CFTR):c.4193T>G (p.Ile1398Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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246 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 |
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247 ClinVarVariant:10289 NM_000132.3(F8):c.5618C>G (p.Pro1873Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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248 ClinVarVariant:10299 NM_000132.3(F8):c.5938C>T (p.His1980Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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249 ClinVarVariant:53814 NM_000492.3(CFTR):c.3808G>T (p.Asp1270Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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250 ClinVarVariant:10309 F8, PHE2101LEU NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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251 ClinVarVariant:7129 NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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252 ClinVarVariant:10349 F8, EX23-26DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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253 MGI:2176172 Tg(Nes-cre)1Kln NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:23622066|PMID:10471508 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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254 ClinVarVariant:53824 NM_000492.3(CFTR):c.3855delC (p.Phe1286Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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255 ClinVarVariant:53834 NM_000492.3(CFTR):c.3874-8T>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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256 MGI:2448269 tmgc8 NCBITaxon:10090 Mus musculus MGI:2448269 tmgc8 HP:0000739 Anxiety ECO:0000006 experimental evidence MGI:2448159 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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257 MGI:3798957 Del(16Dgcr2-Hira)3Aam NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18469815 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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258 ClinVarVariant:96338 NM_015384.4(NIPBL):c.2626dupG (p.Asp876Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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259 ClinVarVariant:2146 NM_015384.4(NIPBL):c.5167C>T (p.Arg1723Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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260 ClinVarVariant:54067 NM_000492.3(CFTR):c.842T>C (p.Met281Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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261 ClinVarVariant:54077 NM_000492.3(CFTR):c.874G>A (p.Glu292Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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262 ClinVarVariant:31175 NM_145239.2(PRRT2):c.516dupT (p.Glu173Terfs) 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 |
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263 ClinVarVariant:91015 NM_000251.2(MSH2):c.2633_2634delAG (p.Glu878Alafs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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264 ClinVarVariant:102897 NM_000277.1(PAH):c.926C>A (p.Ala309Asp) 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 |
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265 ClinVarVariant:53346 NM_000492.3(CFTR):c.169T>C (p.Trp57Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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266 ClinVarVariant:8975 NM_001079668.2(NKX2-1):c.908delG (p.Gly303Valfs) 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 |
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267 ClinVarVariant:53584 NM_000492.3(CFTR):c.2876C>T (p.Ala959Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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268 ClinVarVariant:7202 NM_000492.3(CFTR):c.1943A>T (p.Asp648Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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269 ClinVarVariant:53594 NM_000492.3(CFTR):c.2909-4A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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270 ClinVarVariant:196277 NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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271 ClinVarVariant:56254 NM_000086.2(CLN3):c.126-1G>A NCBITaxon:9606 Homo sapiens 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 |
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272 ClinVarVariant:36956 NM_002501.3(NFIX):c.568C>T (p.Gln190Ter) NCBITaxon:9606 Homo sapiens 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 |
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273 ClinVarVariant:56244 NM_000086.2(CLN3):c.1001G>A (p.Arg334His) NCBITaxon:9606 Homo sapiens 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 |
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274 ClinVarVariant:16081 NM_001083112.2(GPD2):c.1904T>C (p.Phe635Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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275 ClinVarVariant:56264 NM_000086.2(CLN3):c.370dupT (p.Tyr124Leufs) NCBITaxon:9606 Homo sapiens 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 |
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276 ClinVarVariant:11570 NM_002578.3(PAK3):c.1094C>A (p.Ala365Glu) NCBITaxon:9606 Homo sapiens HP:0000739 Anxiety ECO:0000269 experimental evidence used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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277 ClinVarVariant:7222 NM_000492.3(CFTR):c.3532_3535dupTCAA (p.Thr1179Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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278 ClinVarVariant:53674 NM_000492.3(CFTR):c.3189G>A (p.Trp1063Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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279 ClinVarVariant:53664 NM_000492.3(CFTR):c.3140G>A (p.Gly1047Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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280 ClinVarVariant:188783 NM_000492.3(CFTR):c.3368-2A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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281 ClinVarVariant:36966 NM_002501.3(NFIX):c.179T>C (p.Leu60Pro) NCBITaxon:9606 Homo sapiens 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 |
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282 ClinVarVariant:7242 NM_003001.3(SDHC):c.405+1G>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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283 ClinVarVariant:7232 NM_000492.3(CFTR):c.262_263delTT (p.Leu88Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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284 MGI:1928960 Dbh<tm2(Th)Rpa> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:16723393 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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285 ClinVarVariant:135952 NM_000551.3(VHL):c.191G>A (p.Arg64His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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286 ClinVarVariant:159982 NM_005445.3(SMC3):c.2710T>C (p.Trp904Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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287 MGI:1857169 Fmr1<tm1Cgr> 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 |
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288 ClinVarVariant:159972 NM_005445.3(SMC3):c.2264C>T (p.Pro755Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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289 ClinVarVariant:158658 NM_018486.2(HDAC8):c.131delT (p.Leu44Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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290 ClinVarVariant:53654 NM_000492.3(CFTR):c.3124C>T (p.Gln1042Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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291 MGI:5555957 Del(5Gtf2i-Fkbp6)1Vcam NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:25027326 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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292 ClinVarVariant:53694 NM_000492.3(CFTR):c.3257C>T (p.Thr1086Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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293 ClinVarVariant:53684 NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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294 ClinVarVariant:159962 NM_006306.3(SMC1A):c.616-2A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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295 ClinVarVariant:53624 NM_000492.3(CFTR):c.3007G>T (p.Gly1003Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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296 ClinVarVariant:159952 NM_006306.3(SMC1A):c.285C>G (p.Ala95=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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297 ClinVarVariant:10099 NM_000132.3(F8):c.872A>G (p.Glu291Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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298 ClinVarVariant:53604 NM_000492.3(CFTR):c.2939T>A (p.Ile980Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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299 ClinVarVariant:159942 NM_006306.3(SMC1A):c.1545+4A>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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300 ClinVarVariant:10089 F8, EX6DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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301 ClinVarVariant:102490 NM_000277.1(PAH):c.1045T>G (p.Ser349Ala) 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 |
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302 ClinVarVariant:120298 NM_000277.1(PAH):c.970-1G>A 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 |
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303 ClinVarVariant:10139 NM_000132.3(F8):c.1063C>T (p.Arg355Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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304 ClinVarVariant:10149 NM_000132.3(F8):c.1754T>C (p.Ile585Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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305 ClinVarVariant:10129 NM_000132.3(F8):c.566C>T (p.Ser189Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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306 MGI:5501061 Dbn1<tm1b(KOMP)Wtsi> MP:0001364 decreased anxiety-related response ECO:0000059 experimental phenotypic evidence http://data.monarchinitiative.org/ttl/impc.ttl inferred |
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307 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 |
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308 ClinVarVariant:17082 MLH1, IVS5, G-A, -1 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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309 ClinVarVariant:10119 F8, EX3DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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310 MGI:3687967 Clcn6<tm1Tjj> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16950870 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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311 ClinVarVariant:10109 NM_000132.3(F8):c.6977G>T (p.Arg2326Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:9302853|PMID:10734657|PMID:15357786 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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312 ClinVarVariant:90452 NM_000249.3(MLH1):c.955G>A (p.Glu319Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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313 ClinVarVariant:120288 NM_000277.1(PAH):c.837delC (p.Glu280Asnfs) 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 |
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314 ClinVarVariant:4296 NM_001005741.2(GBA):c.254G>A (p.Gly85Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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315 ClinVarVariant:53524 NM_000492.3(CFTR):c.2619+2T>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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316 ClinVarVariant:53514 NM_000492.3(CFTR):c.2571G>A (p.Lys857=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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317 ClinVarVariant:7112 NM_000492.3(CFTR):c.1585-1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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318 ClinVarVariant:10342 F8, EX14-22DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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319 MGI:5499183 Pedm29 NCBITaxon:10090 Mus musculus MGI:5499183 Pedm29 HP:0000739 Anxiety ECO:0000006 experimental evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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320 ClinVarVariant:53504 NM_000492.3(CFTR):c.2502delT (p.Phe834Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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321 ClinVarVariant:92756 NM_000277.1(PAH):c.974A>G (p.Tyr325Cys) 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 |
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322 ClinVarVariant:36769 NM_003000.2(SDHB):c.423+20T>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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323 ClinVarVariant:53544 NM_000492.3(CFTR):c.2687_2690delCTCAinsTGAGTACTATGAG (p.Thr896_His897delinsMetSerThrMetSer) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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324 ClinVarVariant:53574 NM_000492.3(CFTR):c.2825delT (p.Ile942Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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325 ClinVarVariant:2406 NM_032409.2(PINK1):c.1311G>A (p.Trp437Ter) 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 |
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326 ClinVarVariant:53564 NM_000492.3(CFTR):c.276A>T (p.Glu92Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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327 ClinVarVariant:35888 NM_000492.3(CFTR):c.743+4G>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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328 ClinVarVariant:53404 NM_000492.3(CFTR):c.1853T>C (p.Ile618Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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329 ClinVarVariant:180194 NM_015384.4(NIPBL):c.914C>A (p.Ser305Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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330 ClinVarVariant:6906 NM_003002.3(SDHD):c.3G>C (p.Met1Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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331 ClinVarVariant:1475 HMBS, IVS12DS, G-C, +1 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 |
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332 ClinVarVariant:53444 NM_000492.3(CFTR):c.2156T>A (p.Leu719Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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333 ClinVarVariant:53424 NM_000492.3(CFTR):c.2010dupA (p.Leu671Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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334 MGI:4443321 Grin2b<tm1.1Jlbr> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20357110 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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335 ClinVarVariant:90502 NM_000251.2(MSH2):c.1009C>T (p.Gln337Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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336 dbSNP:rs7903146 rs7903146-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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337 ClinVarVariant:4316 NM_001005741.2(GBA):c.1043C>T (p.Ala348Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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338 ClinVarVariant:5119 NM_001271604.2(JPH3):c.431_433CTG(6_27) (p.Ala150_Ala157del) 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 |
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339 ClinVarVariant:4326 NM_001005741.2(GBA):c.1192C>T (p.Arg398Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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340 ClinVarVariant:10592 NM_000133.3(F9):c.541G>T (p.Val181Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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341 ClinVarVariant:4306 NM_001005741.2(GBA):c.1085C>T (p.Thr362Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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342 ClinVarVariant:10572 NM_000133.3(F9):c.223C>T (p.Arg75Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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343 ClinVarVariant:1753 NM_000251.2(MSH2):c.1865C>T (p.Pro622Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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344 ClinVarVariant:10582 NM_000133.3(F9):c.496A>T (p.Asn166Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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345 ClinVarVariant:10652 NM_000133.3(F9):c.872A>T (p.Glu291Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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346 ClinVarVariant:10642 NM_000133.3(F9):c.1187G>C (p.Cys396Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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347 dbSNP:rs17135859 rs17135859-C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21326311|PMID:17938043|PMID:9491171|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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348 MGI:3692441 Grin1<tm1Yql> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19915563 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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349 ClinVarVariant:188863 NM_000492.3(CFTR):c.1519A>G (p.Ile507Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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350 MGI:2178544 Crhr1<tm1Klee> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:10448190|PMID:9655498 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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351 ClinVarVariant:40999 NM_000132.3(F8):c.3780C>G (p.Asp1260Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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352 MGI:2178821 Kcnj11<tm1Sse> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16530794 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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353 ClinVarVariant:126974 NM_017849.3(TMEM127):c.76C>T (p.Gln26Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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354 ClinVarVariant:10589 NM_000133.3(F9):c.655C>T (p.Gln219Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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355 ClinVarVariant:10579 NM_000133.3(F9):c.316G>A (p.Gly106Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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356 ClinVarVariant:1460 HMBS, 1-BP INS, 182G 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 |
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357 MGI:3041596 Axtofd3<L2> HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:14990867 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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358 ClinVarVariant:1480 HMBS, ALU INS 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 |
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359 ClinVarVariant:6901 NM_003002.3(SDHD):c.95C>A (p.Ser32Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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360 ClinVarVariant:1470 HMBS, 8-BP INS 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 |
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361 MGI:3696469 Tg(Prnp-App/APPswe)E1-2Dbo NCBITaxon:10090 Mus musculus NCBIGene:351 APP RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:9117892|PMID:12742740|PMID:12742740 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct |
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362 ClinVarVariant:1450 NM_000190.3(HMBS):c.734T>G (p.Leu245Arg) 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 |
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363 ClinVarVariant:3935 NM_000520.4(HEXA):c.116T>G (p.Leu39Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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364 ClinVarVariant:3925 NM_000520.4(HEXA):c.508C>T (p.Arg170Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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365 MGI:2451310 Wasf1<tm1Jsco> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:12578964 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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366 MGI:2178545 Crhr2<tm1Klee> HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:11756502 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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367 MGI:3653645 Nkx2-1<tm2Shk> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17182767 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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368 ClinVarVariant:42496 NM_000249.3(MLH1):c.977T>C (p.Val326Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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369 ClinVarVariant:10599 NM_000133.3(F9):c.804T>G (p.Cys268Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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370 ClinVarVariant:75241 NM_002608.2(PDGFB):c.726G>C (p.Ter242Tyr) 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 |
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371 dbSNP:rs10189857 rs10189857-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21425450|PMID:21326311 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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372 MGI:4418499 Ehmt2<tm1.1Tara> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20005824 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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373 ClinVarVariant:189046 NM_000520.4(HEXA):c.1307_1308delTA (p.Ile436Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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374 ClinVarVariant:3905 NM_000520.4(HEXA):c.1177C>T (p.Arg393Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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375 dbSNP:rs4869931 rs4869931-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21425450|PMID:24058526 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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376 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 |
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377 ClinVarVariant:3915 NM_000520.4(HEXA):c.1495C>T (p.Arg499Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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378 ClinVarVariant:10662 NM_000133.3(F9):c.1189G>C (p.Ala397Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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379 MGI:4434258 Aspa<tm1a(EUCOMM)Wtsi> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21625469 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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380 ClinVarVariant:10612 NM_000133.3(F9):c.1135C>T (p.Arg379Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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381 ClinVarVariant:53774 NM_000492.3(CFTR):c.358G>A (p.Ala120Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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382 ClinVarVariant:10602 NM_000133.3(F9):c.881G>A (p.Arg294Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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383 ClinVarVariant:10632 F9, EX1-3DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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384 ClinVarVariant:53794 NM_000492.3(CFTR):c.3718-79T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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385 ClinVarVariant:10199 NM_000132.3(F8):c.980T>C (p.Leu327Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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386 ClinVarVariant:53714 NM_000492.3(CFTR):c.330C>A (p.Asp110Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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387 ClinVarVariant:10622 NM_000133.3(F9):c.1307C>A (p.Ala436Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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388 ClinVarVariant:53784 NM_000492.3(CFTR):c.3629T>A (p.Met1210Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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389 ClinVarVariant:53724 NM_000492.3(CFTR):c.3367+2T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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390 ClinVarVariant:161997 NM_000492.3(CFTR):c.2700T>A (p.Asn900Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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391 ClinVarVariant:53744 NM_000492.3(CFTR):c.3443A>G (p.Asn1148Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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392 ClinVarVariant:53754 NM_000492.3(CFTR):c.346G>A (p.Glu116Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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393 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 |
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394 ClinVarVariant:53734 NM_000492.3(CFTR):c.340A>T (p.Lys114Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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395 ClinVarVariant:17092 MLH1, HYPERMETHYLATION NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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396 MGI:4353991 Skap2<Gt(VICTR20)21Lex> 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 |
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397 ClinVarVariant:10159 NM_000132.3(F8):c.207_210delGTTT (p.Phe70Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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398 ClinVarVariant:110 NM_017849.3(TMEM127):c.149dupA (p.Pro51Alafs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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399 ClinVarVariant:53704 NM_000492.3(CFTR):c.3287delT (p.Leu1096Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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400 ClinVarVariant:10189 NM_000132.3(F8):c.854T>G (p.Val285Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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401 ClinVarVariant:10179 NM_000132.3(F8):c.665A>T (p.Asp222Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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402 ClinVarVariant:197701 NM_001005741.2(GBA):c.431T>G (p.Leu144Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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403 ClinVarVariant:10169 NM_000132.3(F8):c.350T>G (p.Leu117Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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404 ClinVarVariant:126964 NM_017849.3(TMEM127):c.208G>A (p.Asp70Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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405 MGI:1857197 Il6<tm1Kopf> MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:16843000|PMID:12946594|PMID:19378383 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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406 MGI:2451031 Cacna1e<tm1Hssh> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:11854466 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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407 ClinVarVariant:125436 NM_000277.1(PAH):c.505C>T (p.Arg169Cys) 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 |
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408 ClinVarVariant:159204 NM_015384.4(NIPBL):c.6632_6634delAAG (p.Glu2211del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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409 ClinVarVariant:183421 NM_017831.3(RNF125):c.488C>T (p.Ser163Leu) 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 |
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410 ClinVarVariant:102437 NM_017775.3(TTC19):c.601_604delGGCT (p.Gly201Metfs) 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 |
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411 ClinVarVariant:159214 NM_133433.3(NIPBL):c.6954+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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412 ClinVarVariant:8505 NM_001127221.1(CACNA1A):c.1748G>A (p.Arg583Gln) 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 |
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413 ClinVarVariant:159254 NM_133433.3(NIPBL):c.922C>T (p.Arg308Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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414 MGI:3055492 Bbs4<Gt1Nk> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16794820 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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415 dbSNP:rs4402960 rs4402960-T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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416 ClinVarVariant:216988 NM_006265.2(RAD21):c.1808T>C (p.Leu603Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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417 ClinVarVariant:159939 NM_006306.3(SMC1A):c.1254+11G>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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418 ClinVarVariant:183387 NM_002024.5(FMR1):c.-128_-126(200) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19429055|PMID:18297385|PMID:14994287|PMID:16176388|PMID:10972251 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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419 ClinVarVariant:159969 NM_005445.3(SMC3):c.1680T>C (p.Tyr560=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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420 MGI:3848928 Dlg4<tm2.1Grnt> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20952458 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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421 MGI:4414758 Myg1<tm1Mphi> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19818808 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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422 ClinVarVariant:159979 NM_005445.3(SMC3):c.2535+15T>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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423 ClinVarVariant:12911 NM_152296.4(ATP1A3):c.829G>A (p.Glu277Lys) 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 |
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424 ClinVarVariant:159224 NM_015384.4(NIPBL):c.7198delC (p.Arg2400Valfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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425 ClinVarVariant:159164 NM_015384.4(NIPBL):c.5924_5926delTTG (p.Val1975del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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426 ClinVarVariant:159174 NM_133433.3(NIPBL):c.6108+7A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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427 MGI:2388359 Folh1<tm1Nle> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16190866 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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428 MGI:3613512 Tg(YAC128)53Hay NCBITaxon:10090 Mus musculus NCBIGene:3064 huntingtin MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19464370 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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429 MGI:5310727 Mecp2<tm1.1Joez> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22119903 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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430 ClinVarVariant:10269 F8, IVS14AS, A-G, -2 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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431 ClinVarVariant:12671 PRKAR1A, 16-BP DEL 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 |
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432 MGI:5285394 Shank3<tm1.2Bux> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:24652766 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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433 ClinVarVariant:10279 NM_000132.3(F8):c.5443C>T (p.Gln1815Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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434 MGI:2387408 Htr1a<tm1Toth> 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 |
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435 ClinVarVariant:10249 NM_000132.3(F8):c.2945dupA (p.Asn982Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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436 ClinVarVariant:10259 NM_000132.3(F8):c.4328_4331delAAGA (p.Lys1443Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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437 MGI:3831292 Kalrn<tm1.1Npl> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19020030 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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438 ClinVarVariant:10219 F8, IVS10AS, G-T, +1 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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439 ClinVarVariant:10239 NM_000132.3(F8):c.1958T>C (p.Val653Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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440 ClinVarVariant:3557 NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) NCBITaxon:9606 Homo sapiens 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 |
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441 MGI:2449922 Fev<tm1Esd> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20818386 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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442 ClinVarVariant:53629 NM_000492.3(CFTR):c.3022delG (p.Val1008Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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443 ClinVarVariant:91328 NM_000535.5(PMS2):c.2113G>A (p.Glu705Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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444 ClinVarVariant:159987 NM_005445.3(SMC3):c.377A>G (p.Glu126Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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445 ClinVarVariant:53649 NM_000492.3(CFTR):c.3094T>A (p.Tyr1032Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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446 MGI:4867721 Mapk8ip2<tm1.1Gol> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21048139 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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447 ClinVarVariant:99942 NM_015384.4(NIPBL):c.7789delC (p.Leu2597Cysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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448 ClinVarVariant:17102 MLH1, EPIGENETICALLY SILENCED NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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449 ClinVarVariant:99932 NM_015384.4(NIPBL):c.5366G>A (p.Arg1789Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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450 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 |
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451 ClinVarVariant:53679 NM_000492.3(CFTR):c.3199G>C (p.Ala1067Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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452 ClinVarVariant:192223 NM_000535.5(PMS2):c.2182A>G (p.Thr728Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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453 ClinVarVariant:53689 NM_000492.3(CFTR):c.3229_3230delCT (p.Leu1077Valfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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454 ClinVarVariant:53639 NM_000492.3(CFTR):c.3041_3042delAC (p.Ile1015Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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455 ClinVarVariant:159977 NM_005445.3(SMC3):c.2427+13C>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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456 MGI:4452483 Tg(Prnp-ITM2B*)7Jckr NCBITaxon:10090 Mus musculus NCBIGene:9445 integral membrane protein 2B MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20385796 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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457 ClinVarVariant:53609 NM_000492.3(CFTR):c.2968dupA (p.Thr990Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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458 ClinVarVariant:159947 NM_006306.3(SMC1A):c.2131C>T (p.Arg711Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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459 ClinVarVariant:53619 NM_000492.3(CFTR):c.2998_3019del22 (p.Ile1000Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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460 MGI:5317543 Gpr26<tm1Zgwg> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:21924326 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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461 ClinVarVariant:10209 NM_000132.3(F8):c.1226A>G (p.Glu409Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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462 ClinVarVariant:10229 NM_000132.3(F8):c.1730C>T (p.Ser577Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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463 MGI:2176368 Pdyn<tm1Ute> HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:12843270 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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464 ClinVarVariant:14454 LIPC, -250G-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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465 ClinVarVariant:48708 NM_000492.3(CFTR):c.988G>T (p.Gly330Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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466 ClinVarVariant:10567 NM_000133.3(F9):c.169C>T (p.Gln57Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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467 ClinVarVariant:10597 F9, IVS6DS, G-T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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468 ClinVarVariant:53659 NM_000492.3(CFTR):c.3139G>C (p.Gly1047Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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469 MGI:3811718 Npy<tm1(cre)Tkar> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18616565 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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470 ClinVarVariant:53699 NM_000492.3(CFTR):c.3264delC (p.Trp1089Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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471 ClinVarVariant:9039 NM_004366.5(CLCN2):c.1730G>A (p.Arg577Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21703932|PMID:11319492|PMID:19453714|PMID:21683658|PMID:21041102 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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472 ClinVarVariant:53669 NM_000492.3(CFTR):c.3176T>G (p.Leu1059Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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473 ClinVarVariant:3903 NM_000520.4(HEXA):c.910_912delTTC (p.Phe305del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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474 ClinVarVariant:10577 NM_000133.3(F9):c.287A>C (p.Gln96Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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475 MGI:1857159 Drd3<tm1Dac> MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006|ECO:0000006 experimental evidence|experimental evidence|experimental evidence PMID:9402626|PMID:9402626|PMID:10884517 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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476 MGI:1930937 Psen1<tm1Mpm> 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 |
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477 ClinVarVariant:189126 NM_000520.4(HEXA):c.2T>C (p.Met1Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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478 ClinVarVariant:159949 NM_006306.3(SMC1A):c.2350A>G (p.Ile784Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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479 ClinVarVariant:159959 NM_006306.3(SMC1A):c.421G>A (p.Glu141Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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480 ClinVarVariant:92751 NM_000277.1(PAH):c.898G>T (p.Ala300Ser) 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 |
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481 MGI:3718452 Tg(SOD1)51Yg NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:15016076 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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482 ClinVarVariant:92741 NM_000277.1(PAH):c.355C>T (p.Pro119Ser) 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 |
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483 ClinVarVariant:10669 F9, IVS3, A-G, -3 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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484 ClinVarVariant:208485 NM_183357.2(ADCY5):c.2088+1G>T 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 |
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485 ClinVarVariant:585 NM_000277.1(PAH):c.169_352del184 (p.Glu57Cysfs) 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 |
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486 ClinVarVariant:2411 NM_032409.2(PINK1):c.836G>A (p.Arg279His) 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 |
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487 MGI:1861926 Gabrd<tm1Geh> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:10536021 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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488 ClinVarVariant:14793 NM_000875.4(IGF1R):c.2216G>A (p.Arg739Gln) NCBITaxon:9606 Homo sapiens 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 |
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489 ClinVarVariant:10649 NM_000133.3(F9):c.1232G>T (p.Ser411Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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490 ClinVarVariant:189240 NM_032409.2(PINK1):c.620delG (p.Arg207Glnfs) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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491 ClinVarVariant:194161 NM_000277.1(PAH):c.1352_1356delTAAAG (p.Ter453Profs) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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492 ClinVarVariant:92731 NM_000277.1(PAH):c.1208C>T (p.Ala403Val) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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493 ClinVarVariant:10639 NM_000133.3(F9):c.1120G>T (p.Val374Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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494 MGI:3653427 Htr2a<tm2Grch> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16873667 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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495 ClinVarVariant:595 NM_000277.1(PAH):c.1068C>G (p.Tyr356Ter) 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 |
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496 ClinVarVariant:99919 NM_015384.4(NIPBL):c.1212C>T (p.Pro404=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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497 ClinVarVariant:35873 NM_000492.3(CFTR):c.370G>C (p.Gly124Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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498 ClinVarVariant:211625 NM_015384.4(NIPBL):c.212_213dupAG (p.Val72Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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499 ClinVarVariant:107 NM_017849.3(TMEM127):c.410-2A>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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500 MGI:3580562 Nsila2<C57BL/6J> 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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501 MGI:3764690 Park2<tm1Ccs> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:17883413 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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502 MGI:3526452 Spred1<tm1Hiin> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:19118178 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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503 ClinVarVariant:35883 NM_000492.3(CFTR):c.4092G>A (p.Ala1364=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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504 MGI:3774541 Tph2<tm1Mca> 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 |
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505 ClinVarVariant:35843 NM_000492.3(CFTR):c.2597G>A (p.Cys866Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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506 ClinVarVariant:35853 NM_000492.3(CFTR):c.2898G>A (p.Thr966=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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507 ClinVarVariant:17099 NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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508 ClinVarVariant:99939 NM_015384.4(NIPBL):c.7301A>G (p.Asn2434Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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509 ClinVarVariant:41000 NM_000132.3(F8):c.3864A>C (p.Ser1288=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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510 ClinVarVariant:189166 NM_000520.4(HEXA):c.1123delG (p.Glu375Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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511 MGI:5007094 Csgalnact1<tm1Lex> 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 |
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512 ClinVarVariant:17089 NM_000249.3(MLH1):c.1852_1853delAAinsGC (p.Lys618Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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513 ClinVarVariant:12784 SDHB, 1.0-KB DEL, EX1 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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514 dbSNP:rs11053548 rs11053548-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:24058526|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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515 ClinVarVariant:35823 NM_000492.3(CFTR):c.1400T>C (p.Leu467Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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516 MGI:4245251 Cnih1<Gt(OST237199)Lex> 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 |
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517 dbSNP:rs887829 rs887829-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21425450|PMID:22558097 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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518 ClinVarVariant:17079 NM_000249.3(MLH1):c.131C>T (p.Ser44Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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519 ClinVarVariant:35833 NM_000492.3(CFTR):c.1865G>A (p.Gly622Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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520 ClinVarVariant:99929 NM_015384.4(NIPBL):c.4422G>T (p.Arg1474Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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521 ClinVarVariant:39710 NM_018486.2(HDAC8):c.490C>T (p.Arg164Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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522 ClinVarVariant:35863 NM_000492.3(CFTR):c.3139+8A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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523 MGI:2388040 Map6<tm1Job> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:12231625 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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524 ClinVarVariant:10587 NM_000133.3(F9):c.880C>T (p.Arg294Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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525 ClinVarVariant:3933 NM_000520.4(HEXA):c.902T>G (p.Met301Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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526 ClinVarVariant:189064 NM_000295.4(SERPINA1):c.646+1G>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19072562|PMID:18376109|PMID:9116423|PMID:3878661|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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527 ClinVarVariant:35851 NM_000492.3(CFTR):c.2832G>A (p.Val944=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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528 ClinVarVariant:17087 NM_000249.3(MLH1):c.676C>T (p.Arg226Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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529 ClinVarVariant:35821 NM_000492.3(CFTR):c.1367T>C (p.Val456Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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530 ClinVarVariant:12792 NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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531 ClinVarVariant:3913 HEXA, IVS2, G-A, +1 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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532 ClinVarVariant:102545 NM_000277.1(PAH):c.1180G>C (p.Asp394His) 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 |
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533 MGI:5285394 Shank3<tm1.2Bux> 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 |
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534 ClinVarVariant:12782 SDHB, 4-BP DEL, 847NT NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:19569019|PMID:1576030|PMID:17474956|PMID:14605591|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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535 ClinVarVariant:35831 NM_000492.3(CFTR):c.1692delA (p.Asp565Metfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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536 ClinVarVariant:53729 NM_000492.3(CFTR):c.3382A>T (p.Arg1128Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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537 ClinVarVariant:211653 NM_133433.3(NIPBL):c.6108+2T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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538 ClinVarVariant:53719 NM_000492.3(CFTR):c.3322G>C (p.Val1108Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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539 ClinVarVariant:35861 NM_000492.3(CFTR):c.3095A>G (p.Tyr1032Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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540 ClinVarVariant:17097 NM_000249.3(MLH1):c.1942C>T (p.Pro648Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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541 ClinVarVariant:159234 NM_015384.4(NIPBL):c.7701_7725del25 (p.Ser2568Metfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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542 MGI:3590684 Pvalb<tm1(cre)Arbr> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24430185 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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543 ClinVarVariant:4688 VPS13A, 7-KB DEL 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 |
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544 ClinVarVariant:159244 NM_133433.3(NIPBL):c.8277_8283delGGTGCCT (p.Val2760Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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545 ClinVarVariant:10619 F9, GLY367ARG NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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546 ClinVarVariant:10609 NM_000133.3(F9):c.1064G>T (p.Gly355Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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547 ClinVarVariant:211665 NM_133433.3(NIPBL):c.8275_8276dupCT (p.Val2760Trpfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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548 MGI:2384087 Fshr<tm1Saco> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:14502087 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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549 ClinVarVariant:10629 NM_000133.3(F9):c.1369A>T (p.Lys457Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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550 ClinVarVariant:167361 NM_015384.4(NIPBL):c.6701T>G (p.Leu2234Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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551 MGI:3041626 Axtofd5<L2> HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:14990867 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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552 ClinVarVariant:211645 NM_133433.3(NIPBL):c.5044C>T (p.Arg1682Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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553 ClinVarVariant:35893 NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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554 ClinVarVariant:1465 HMBS, IVS9AS, G-A, -1 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 |
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555 MGI:2182322 Gtf2ird1<Tg(Alb1-Myc)166.8Sst> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22652393 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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556 ClinVarVariant:1445 NM_000190.3(HMBS):c.346C>T (p.Arg116Trp) 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 |
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557 ClinVarVariant:12916 NM_152296.4(ATP1A3):c.*196_*198dupCTC 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 |
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558 ClinVarVariant:9972 FMR1, (CGG)n EXPANSION NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19429055|PMID:18297385|PMID:14994287|PMID:16176388|PMID:10972251 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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559 ClinVarVariant:1455 NM_000190.3(HMBS):c.100C>A (p.Gln34Lys) 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 |
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560 MGI:3618598 Tg(PSEN1dE9)S9Dbo NCBITaxon:10090 Mus musculus NCBIGene:5663 presenilin 1 MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16354928 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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561 MGI:3762757 Shank1<tm1Shng> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18272690 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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562 ClinVarVariant:53759 NM_000492.3(CFTR):c.3485_3486delGA (p.Val1163Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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563 ClinVarVariant:10607 NM_000133.3(F9):c.1025C>T (p.Thr342Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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564 ClinVarVariant:53769 NM_000492.3(CFTR):c.3540delA (p.Lys1180Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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565 dbSNP:rs1318772 rs1318772-G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21326311|PMID:17938043|PMID:9491171|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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566 ClinVarVariant:211643 NM_133433.3(NIPBL):c.4965_4972delGCTTGATT (p.Asp1657Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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567 ClinVarVariant:35891 NM_000492.3(CFTR):c.846A>T (p.Glu282Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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568 MGI:2387803 Cacna1b<tm1Ttan> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:11350923 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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569 MGI:2384535 Cckbr<tm1Tom> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:12459512 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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570 ClinVarVariant:10667 NM_000133.3(F9):c.540_541delAG (p.Arg180Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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571 ClinVarVariant:53749 NM_000492.3(CFTR):c.3461A>G (p.Asp1154Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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572 ClinVarVariant:211663 NM_015384.4(NIPBL):c.7912dupG (p.Glu2638Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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573 ClinVarVariant:53739 NM_000492.3(CFTR):c.3421_3424dupAGTA (p.Thr1142Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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574 ClinVarVariant:211633 NM_133433.3(NIPBL):c.3856-7_3856-5del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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575 ClinVarVariant:35881 NM_000492.3(CFTR):c.4046G>A (p.Gly1349Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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576 MGI:3051945 Slc17a7<tm1Rmnd> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17241289 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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577 ClinVarVariant:211623 NM_133433.3(NIPBL):c.1496-8A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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578 ClinVarVariant:35871 NM_000492.3(CFTR):c.3691delT (p.Ser1231Profs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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579 ClinVarVariant:10637 F9, EX7DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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580 ClinVarVariant:53799 NM_000492.3(CFTR):c.3737C>T (p.Thr1246Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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581 MGI:3800752 Tg(HTT*97Q)IXwy NCBITaxon:10090 Mus musculus NCBIGene:3064 huntingtin MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23001568 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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582 ClinVarVariant:10647 NM_000133.3(F9):c.1070G>A (p.Gly357Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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583 MGI:3578226 Gsk3b<tm1Dral> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20357757 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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584 ClinVarVariant:38494 NM_000492.3(CFTR):c.579+1G>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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585 ClinVarVariant:14791 NM_000875.4(IGF1R):c.435A>C (p.Lys145Asn) NCBITaxon:9606 Homo sapiens 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 |
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586 MGI:4949738 Shank3<tm2Gfng> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21423165 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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587 ClinVarVariant:10657 NM_000133.3(F9):c.82T>C (p.Cys28Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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588 ClinVarVariant:188958 NM_000492.3(CFTR):c.1327_1330dupGATA (p.Ile444Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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589 ClinVarVariant:99927 NM_015384.4(NIPBL):c.3897T>C (p.Leu1299=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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590 MGI:2388370 Tnc<tm1Msch> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16553788 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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591 ClinVarVariant:133307 NM_015384.4(NIPBL):c.5378T>G (p.Met1793Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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592 MGI:5293422 Mapk1<tm1.2Kuta> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21849556 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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593 ClinVarVariant:31073 TTC19, LEU219TER 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 |
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594 ClinVarVariant:593 NM_000277.1(PAH):c.1241A>G (p.Tyr414Cys) 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 |
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595 ClinVarVariant:99937 NM_015384.4(NIPBL):c.6641_6647delATCTATA (p.Asn2214Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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596 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 |
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597 MGI:3576223 Syngap1<tm1Rlh> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19145222 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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598 ClinVarVariant:161387 NM_001035511.1(SDHC):c.8C>T (p.Ala3Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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599 ClinVarVariant:41713 NM_000535.5(PMS2):c.52A>G (p.Ile18Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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600 ClinVarVariant:35841 NM_000492.3(CFTR):c.2392C>T (p.Pro798Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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601 ClinVarVariant:158661 NM_018486.2(HDAC8):c.421_423delTGG (p.Trp141del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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602 ClinVarVariant:54075 NM_000492.3(CFTR):c.870-1113_870-1110delGAAT NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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603 ClinVarVariant:54035 NM_000492.3(CFTR):c.653T>A (p.Leu218Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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604 ClinVarVariant:141394 NM_000535.5(PMS2):c.1688G>A (p.Arg563Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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605 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 |
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606 ClinVarVariant:35818 NM_000492.3(CFTR):c.1209+18A>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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607 ClinVarVariant:17970 NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19072562|PMID:18376109|PMID:9116423|PMID:3878661|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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608 ClinVarVariant:12779 NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:19569019|PMID:1576030|PMID:17474956|PMID:14605591|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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609 ClinVarVariant:7172 NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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610 ClinVarVariant:7192 NM_000492.3(CFTR):c.3763T>C (p.Ser1255Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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611 ClinVarVariant:7152 NM_000492.3(CFTR):c.3873G>C (p.Gln1291His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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612 ClinVarVariant:53494 NM_000492.3(CFTR):c.2472delT (p.Asn825Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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613 ClinVarVariant:10332 NM_000132.3(F8):c.6956C>T (p.Pro2319Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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614 ClinVarVariant:10312 NM_000132.3(F8):c.6412_6413delTC (p.Ser2138Hisfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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615 ClinVarVariant:53474 NM_000492.3(CFTR):c.2327C>G (p.Ser776Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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616 ClinVarVariant:10322 NM_000132.3(F8):c.6631G>C (p.Ala2211Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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617 ClinVarVariant:53484 NM_000492.3(CFTR):c.2391dupC (p.Gln799Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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618 ClinVarVariant:35858 NM_000492.3(CFTR):c.2989-2A>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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619 ClinVarVariant:35868 NM_000492.3(CFTR):c.3528delC (p.Lys1177Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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620 ClinVarVariant:35828 NM_000492.3(CFTR):c.1585-8G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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621 ClinVarVariant:35838 NM_000492.3(CFTR):c.2052dupA (p.Gln685Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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622 MGI:3580573 Nsila8<A/J> 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 |
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623 ClinVarVariant:35848 NM_000492.3(CFTR):c.2768C>A (p.Ala923Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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624 MGI:3611215 Wdup NCBITaxon:10090 Mus musculus MGI:3611215 Wdup MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence MGI:3580105 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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625 ClinVarVariant:36689 NM_000535.5(PMS2):c.2324A>G (p.Asn775Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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626 ClinVarVariant:7142 NM_000492.3(CFTR):c.1651G>A (p.Gly551Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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627 ClinVarVariant:7132 NM_000492.3(CFTR):c.1373G>T (p.Gly458Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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628 ClinVarVariant:10352 NM_000132.3(F8):c.104A>G (p.Tyr35Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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629 ClinVarVariant:53454 NM_000492.3(CFTR):c.2210C>T (p.Ser737Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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630 ClinVarVariant:10302 NM_000132.3(F8):c.6049delG (p.Val2017Trpfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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631 ClinVarVariant:209050 NM_000492.3(CFTR):c.(3963+1_3964-1)_(*1_?)del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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632 ClinVarVariant:35878 NM_000492.3(CFTR):c.3893G>C (p.Gly1298Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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633 ClinVarVariant:56274 NM_000086.2(CLN3):c.482C>G (p.Ser161Ter) NCBITaxon:9606 Homo sapiens 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 |
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634 MGI:2675703 Synpo<tm1Mif> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:12928494 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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635 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 |
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636 ClinVarVariant:209060 NM_000492.3(CFTR):c.(?_1)_(53+1_54-1)del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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637 MGI:2183093 Nfatc4<tm1Grc> 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 |
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638 ClinVarVariant:56284 NM_000086.2(CLN3):c.575G>A (p.Gly192Glu) NCBITaxon:9606 Homo sapiens 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 |
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639 ClinVarVariant:5560 NM_001040108.1(MLH3):c.1870G>C (p.Glu624Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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640 ClinVarVariant:56294 NM_000086.2(CLN3):c.963-1G>T NCBITaxon:9606 Homo sapiens 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 |
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641 MGI:4452483 Tg(Prnp-ITM2B*)7Jckr NCBITaxon:10090 Mus musculus NCBIGene:9445 integral membrane protein 2B MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20385796 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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642 ClinVarVariant:120258 NM_000277.1(PAH):c.1066-2A>T 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 |
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643 ClinVarVariant:120268 NM_000277.1(PAH):c.169G>T (p.Glu57Ter) 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 |
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644 ClinVarVariant:102440 NM_017775.3(TTC19):c.829C>T (p.Gln277Ter) 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 |
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645 ClinVarVariant:209160 NM_000520.4(HEXA):c.806-7G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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646 ClinVarVariant:120278 NM_000277.1(PAH):c.547_548delGAinsTT (p.Glu183Leu) 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 |
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647 MGI:4867226 Grn<tm1Blrl> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:22062772 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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648 ClinVarVariant:10617 NM_000133.3(F9):c.1217C>T (p.Ser406Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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649 ClinVarVariant:4884 RETN, +62G-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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650 ClinVarVariant:53779 NM_000492.3(CFTR):c.3612G>A (p.Trp1204Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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651 ClinVarVariant:10627 NM_000133.3(F9):c.1328T>C (p.Ile443Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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652 ClinVarVariant:53789 NM_000492.3(CFTR):c.3717+40A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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653 ClinVarVariant:102675 NM_000277.1(PAH):c.441+6T>C 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 |
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654 ClinVarVariant:202200 NM_000179.2(MSH6):c.175C>A (p.Pro59Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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655 ClinVarVariant:120261 NM_000277.1(PAH):c.1171A>G (p.Ser391Gly) 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 |
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656 MGI:3050759 Rasd2<tm1Rdl> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15199135 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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657 ClinVarVariant:53819 NM_000492.3(CFTR):c.3841C>T (p.Gln1281Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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658 ClinVarVariant:53174 NM_000492.3(CFTR):c.1052C>G (p.Thr351Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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659 MGI:3573912 Aaj3<A/J> 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 |
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660 ClinVarVariant:53829 NM_000492.3(CFTR):c.3873+33A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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661 ClinVarVariant:120291 NM_000277.1(PAH):c.887A>G (p.Asp296Gly) 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 |
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662 ClinVarVariant:53809 NM_000492.3(CFTR):c.3771T>G (p.Phe1257Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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663 ClinVarVariant:53164 NM_000492.3(CFTR):c.100_117del18 (p.Leu34_Gln39del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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664 ClinVarVariant:120271 NM_000277.1(PAH):c.205_210dupCCTTCT (p.Ser70_Arg71insProSer) 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 |
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665 NCBIGene:1637 DCR NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:6462129|PMID:12354323|PMID:20629912|PMID:1829081|PMID:12014236 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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666 ClinVarVariant:53194 NM_000492.3(CFTR):c.1117-5A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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667 ClinVarVariant:53839 NM_000492.3(CFTR):c.3883delA (p.Ile1295Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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668 ClinVarVariant:54055 NM_000492.3(CFTR):c.772A>G (p.Arg258Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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669 ClinVarVariant:159059 NM_133433.3(NIPBL):c.2500C>T (p.Arg834Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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670 ClinVarVariant:54065 NM_000492.3(CFTR):c.829T>A (p.Trp277Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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671 ClinVarVariant:53849 NM_000492.3(CFTR):c.3909_3914delCTTGGAinsTGT (p.Leu1304_Asp1305delinsVal) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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672 ClinVarVariant:53859 NM_000492.3(CFTR):c.393delT (p.Phe131Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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673 ClinVarVariant:10984 NM_001032383.1(PQBP1):c.334_354del21 (p.Gly113_Arg119del) 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 |
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674 MGI:2159000 Oprm1<tm1Kff> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22231481 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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675 ClinVarVariant:53869 NM_000492.3(CFTR):c.3G>A (p.Met1Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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676 ClinVarVariant:9239 PMS2, 3-BP DEL, LYS412DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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677 ClinVarVariant:159039 NM_133433.3(NIPBL):c.1591A>G (p.Thr531Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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678 MGI:3487250 Dp(16Cbr1-Fam3b)1Rhr NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:19420260 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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679 ClinVarVariant:54045 NM_000492.3(CFTR):c.714delT (p.Leu240Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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680 ClinVarVariant:53899 NM_000492.3(CFTR):c.4140delA (p.Tyr1381Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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681 ClinVarVariant:54025 NM_000492.3(CFTR):c.609C>G (p.Ile203Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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682 ClinVarVariant:613 NM_000277.1(PAH):c.896T>G (p.Phe299Cys) 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 |
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683 ClinVarVariant:10092 F8, EX23-25DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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684 ClinVarVariant:159049 NM_133433.3(NIPBL):c.2256A>G (p.Glu752=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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685 ClinVarVariant:54015 NM_000492.3(CFTR):c.580-92T>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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686 ClinVarVariant:603 NM_000277.1(PAH):c.829T>G (p.Tyr277Asp) 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 |
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687 MGI:4168877 Tmem43<Gt(OST62799)Lex> 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 |
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688 ClinVarVariant:96336 NM_015384.4(NIPBL):c.2479_2480delAG (p.Arg827Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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689 ClinVarVariant:2144 NM_015384.4(NIPBL):c.3616_3618delATA (p.Ile1206del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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690 ClinVarVariant:54005 NM_000492.3(CFTR):c.575A>G (p.Asp192Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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691 MGI:3580568 Nsila5<C57BL/6J> 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 |
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692 ClinVarVariant:53889 NM_000492.3(CFTR):c.410T>A (p.Leu137His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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693 ClinVarVariant:623 NM_000277.1(PAH):c.1066-3C>T 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 |
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694 ClinVarVariant:5777 NM_003919.2(SGCE):c.464_662del199 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 |
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695 MGI:5560820 Mpst<tm1.1Nori> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23759691 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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696 ClinVarVariant:53879 NM_000492.3(CFTR):c.4042delC (p.His1348Metfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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697 ClinVarVariant:159079 NM_133433.3(NIPBL):c.332G>A (p.Ser111Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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698 ClinVarVariant:159099 NM_133433.3(NIPBL):c.3856-12A>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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699 ClinVarVariant:54095 NM_000492.3(CFTR):c.971C>T (p.Pro324Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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700 ClinVarVariant:159109 NM_133433.3(NIPBL):c.4240-1G>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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701 ClinVarVariant:53989 NM_000492.3(CFTR):c.53+4A>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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702 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 |
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703 ClinVarVariant:10172 NM_000132.3(F8):c.398A>G (p.Tyr133Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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704 ClinVarVariant:198757 NM_001005741.2(GBA):c.896T>C (p.Ile299Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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705 ClinVarVariant:159089 NM_133433.3(NIPBL):c.358+1G>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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706 ClinVarVariant:53909 NM_000492.3(CFTR):c.416A>G (p.His139Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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707 ClinVarVariant:51029 NM_000492.3(CFTR):c.-812T>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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708 ClinVarVariant:54085 NM_000492.3(CFTR):c.920G>A (p.Ser307Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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709 ClinVarVariant:156506 NM_000251.2(MSH2):c.1271dupA (p.His424Glnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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710 ClinVarVariant:53254 NM_000492.3(CFTR):c.1438G>A (p.Gly480Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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711 ClinVarVariant:53234 NM_000492.3(CFTR):c.1355A>C (p.Gln452Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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712 MGI:3759300 Dlgap3<tm1Gfng> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17713528 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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713 MGI:3530818 S100a1<Gt(OST28275)Lex> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:17045663 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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714 ClinVarVariant:53214 NM_000492.3(CFTR):c.1209+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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715 ClinVarVariant:53224 NM_000492.3(CFTR):c.1253A>G (p.Asn418Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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716 MGI:1857129 Apoe<tm1Unc> RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006|ECO:0000006 experimental evidence|experimental evidence|experimental evidence PMID:15304509|PMID:10684907|PMID:15708438|PMID:15708438 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct |
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717 ClinVarVariant:10102 F8, EX4-25DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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718 ClinVarVariant:53264 NM_000492.3(CFTR):c.1482_1483delTT (p.Ser495Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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719 ClinVarVariant:53204 NM_000492.3(CFTR):c.115C>T (p.Gln39Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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720 ClinVarVariant:53979 NM_000492.3(CFTR):c.49_50dupTT (p.Trp19Alafs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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721 ClinVarVariant:10162 F8, IVS4AS, A-G, -2 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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722 ClinVarVariant:68423 NM_001127221.1(CACNA1A):c.2145C>G (p.Asp715Glu) 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 |
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723 ClinVarVariant:159179 NM_133433.3(NIPBL):c.6170T>C (p.Leu2057Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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724 dbSNP:rs1113932 rs1113932-G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:25042611|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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725 ClinVarVariant:53999 NM_000492.3(CFTR):c.550delC (p.Leu184Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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726 ClinVarVariant:10182 F8, IVS5AS, A-G, -2 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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727 ClinVarVariant:10132 F8, EX23-25DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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728 ClinVarVariant:53294 NM_000492.3(CFTR):c.1588A>C (p.Ile530Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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729 ClinVarVariant:53939 NM_000492.3(CFTR):c.42delA (p.Lys14Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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730 ClinVarVariant:53284 NM_000492.3(CFTR):c.1584+18672A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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731 ClinVarVariant:10122 F8, EX1-22DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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732 ClinVarVariant:53929 NM_000492.3(CFTR):c.4242+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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733 NCBIGene:57790 MRXSL NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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734 ClinVarVariant:10112 NM_000132.3(F8):c.5113C>T (p.Gln1705Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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735 ClinVarVariant:159189 NM_133433.3(NIPBL):c.6343G>A (p.Gly2115Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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736 ClinVarVariant:159169 NM_133433.3(NIPBL):c.6067C>A (p.His2023Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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737 ClinVarVariant:29896 NM_003000.2(SDHB):c.423+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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738 ClinVarVariant:159199 NM_133433.3(NIPBL):c.6571A>T (p.Lys2191Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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739 ClinVarVariant:10192 NM_000132.3(F8):c.902G>A (p.Arg301His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:9302853|PMID:10734657|PMID:15357786 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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740 ClinVarVariant:159149 NM_133433.3(NIPBL):c.5428-2A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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741 ClinVarVariant:159159 NM_133433.3(NIPBL):c.5732A>C (p.Gln1911Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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742 MGI:1857279 Camk2a<tm1Sva> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:1378648 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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743 ClinVarVariant:100729 NM_000520.4(HEXA):c.1305C>T (p.Tyr435=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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744 ClinVarVariant:9389 NM_000335.4(SCN5A):c.5474G>A (p.Arg1825His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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745 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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746 ClinVarVariant:36539 NM_000249.3(MLH1):c.1039-8T>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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747 MGI:5296970 Fkbp5<tm1Dvds> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21935478 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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748 dbSNP:rs10946398 rs10946398-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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749 MGI:2387957 Kcnc2<tm1Rudy> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11124984 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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750 ClinVarVariant:1355 ALDH5A1, IVS9, G-T, +1 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 |
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751 MGI:5646415 Mbtr3 NCBITaxon:10090 Mus musculus MGI:5646415 Mbtr3 MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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752 ClinVarVariant:9852 NM_000044.3(AR):c.2137C>T (p.Leu713Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17132758|PMID:17707426|PMID:21801726|PMID:18775430|PMID:1635303 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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753 MGI:2673210 Npepps<goku> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:10407043 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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754 ClinVarVariant:6896 NM_003002.3(SDHD):c.242C>T (p.Pro81Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:19569019|PMID:1576030|PMID:17474956|PMID:14605591|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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755 ClinVarVariant:10232 NM_000132.3(F8):c.1804C>T (p.Arg602Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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756 ClinVarVariant:53394 NM_000492.3(CFTR):c.1811C>G (p.Thr604Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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757 ClinVarVariant:188513 NM_000251.2(MSH2):c.475dupA (p.Arg159Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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758 ClinVarVariant:10212 NM_000132.3(F8):c.1331A>G (p.Lys444Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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759 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 |
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760 ClinVarVariant:53374 NM_000492.3(CFTR):c.1753G>T (p.Glu585Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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761 ClinVarVariant:53364 NM_000492.3(CFTR):c.1736A>C (p.Asp579Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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762 ClinVarVariant:39752 NM_145239.2(PRRT2):c.649delC (p.Arg217Glufs) 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 |
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763 ClinVarVariant:10202 F8, CYS329SER NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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764 ClinVarVariant:10222 NM_000132.3(F8):c.1636C>T (p.Arg546Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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765 ClinVarVariant:53324 NM_000492.3(CFTR):c.1663A>G (p.Arg555Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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766 ClinVarVariant:53334 NM_000492.3(CFTR):c.1679+18G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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767 ClinVarVariant:53314 NM_000492.3(CFTR):c.165-1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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768 ClinVarVariant:30432 NM_001172477.1(RRM2B):c.1166delT (p.Leu389Terfs) 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 |
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769 ClinVarVariant:8973 NM_001079668.2(NKX2-1):c.727C>A (p.Arg243Ser) 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 |
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770 ClinVarVariant:53354 NM_000492.3(CFTR):c.1707T>A (p.Tyr569Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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771 ClinVarVariant:159229 NM_133433.3(NIPBL):c.737A>G (p.Asp246Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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772 MGI:1857237 Prkcg<tm1Stl> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:10979601 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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773 ClinVarVariant:10292 NM_000132.3(F8):c.5710G>A (p.Glu1904Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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774 ClinVarVariant:53344 NM_000492.3(CFTR):c.1694A>G (p.Asp565Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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775 ClinVarVariant:159239 NM_133433.3(NIPBL):c.7849C>T (p.Gln2617Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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776 ClinVarVariant:159219 NM_133433.3(NIPBL):c.7062+2T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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777 ClinVarVariant:10282 NM_000132.3(F8):c.5533A>C (p.Thr1845Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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778 MGI:3764690 Park2<tm1Ccs> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17883413 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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779 ClinVarVariant:159249 NM_015384.4(NIPBL):c.86delC (p.Pro29Hisfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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780 MGI:3768406 Tg(Prnp-MAPT*P301S)PS19Vle NCBITaxon:10090 Mus musculus NCBIGene:4137 microtubule associated protein tau MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21698260 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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781 ClinVarVariant:10262 F8, 2-BP DEL, GA NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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782 ClinVarVariant:53892 NM_000492.3(CFTR):c.4114C>A (p.Pro1372Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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783 ClinVarVariant:205097 NM_001042432.1(CLN3):c.49G>A (p.Glu17Lys) NCBITaxon:9606 Homo sapiens 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 |
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784 ClinVarVariant:10272 F8, LEU1756PHE NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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785 ClinVarVariant:211993 NM_006265.2(RAD21):c.56_62delTAGCGGC (p.Leu19Profs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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786 ClinVarVariant:10242 NM_000132.3(F8):c.1988C>T (p.Ala663Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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787 ClinVarVariant:159209 NM_133433.3(NIPBL):c.678G>A (p.Pro226=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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788 ClinVarVariant:53872 NM_000492.3(CFTR):c.4004T>C (p.Leu1335Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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789 ClinVarVariant:53882 NM_000492.3(CFTR):c.4071_4073delTAGinsAA (p.Arg1358Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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790 ClinVarVariant:9242 NM_000535.5(PMS2):c.1882C>T (p.Arg628Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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791 ClinVarVariant:53792 NM_000492.3(CFTR):c.3718-24_3873+601del781 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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792 ClinVarVariant:10630 F9, EX1-8DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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793 ClinVarVariant:53782 NM_000492.3(CFTR):c.3618_3619delAG (p.Gly1208Profs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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794 ClinVarVariant:10620 NM_000133.3(F9):c.1240C>A (p.Pro414Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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795 ClinVarVariant:53569 NM_000492.3(CFTR):c.2797A>G (p.Arg933Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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796 MGI:1861112 Il1r1<tm1Imx> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19429130 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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797 ClinVarVariant:56249 NM_000086.2(CLN3):c.105G>A (p.Trp35Ter) NCBITaxon:9606 Homo sapiens 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 |
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798 ClinVarVariant:36582 NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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799 ClinVarVariant:159192 NM_133433.3(NIPBL):c.64+3A>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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800 MGI:3757609 Ophn1<tm1Bill> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:17728457 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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801 MGI:2667529 Dusp1<tm1Brv> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20953200 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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802 ClinVarVariant:56269 NM_000086.2(CLN3):c.424delG (p.Val142Leufs) NCBITaxon:9606 Homo sapiens 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 |
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803 ClinVarVariant:159202 NM_133433.3(NIPBL):c.6590G>A (p.Gly2197Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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804 ClinVarVariant:7207 NM_000492.3(CFTR):c.2845C>T (p.His949Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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805 ClinVarVariant:53579 NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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806 ClinVarVariant:7227 NG_016465.3:g.(37526_37529)_(58606_58609) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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807 ClinVarVariant:53509 NM_000492.3(CFTR):c.2547C>A (p.Tyr849Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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808 ClinVarVariant:48688 NM_000492.3(CFTR):c.349C>T (p.Arg117Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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809 ClinVarVariant:53599 NM_000492.3(CFTR):c.2929T>C (p.Ser977Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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810 ClinVarVariant:7217 NM_000492.3(CFTR):c.3752G>A (p.Ser1251Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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811 ClinVarVariant:161251 NM_000190.3(HMBS):c.583C>T (p.Arg195Cys) 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 |
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812 ClinVarVariant:53589 NM_000492.3(CFTR):c.2908G>A (p.Gly970Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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813 ClinVarVariant:159172 NM_133433.3(NIPBL):c.610+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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814 MGI:3580563 Nsila3<A/J> 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 |
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815 ClinVarVariant:53559 NM_000492.3(CFTR):c.2754T>G (p.Ile918Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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816 MGI:2388020 Penk<tm1Dwp> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11172058 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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817 ClinVarVariant:53549 NM_000492.3(CFTR):c.273+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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818 ClinVarVariant:159152 NM_133433.3(NIPBL):c.5465A>G (p.Asp1822Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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819 ClinVarVariant:209055 NM_000492.3(CFTR):c.(2908+1_2909-1)_(3367+1_3368-1)del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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820 ClinVarVariant:53992 NM_000492.3(CFTR):c.533G>A (p.Gly178Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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821 MGI:3604604 Lrp5<tm1Dgen> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence MGI:3604450 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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822 ClinVarVariant:209065 NM_000492.3(CFTR):c.(53+1_54-1)_(489+1_490-1)del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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823 ClinVarVariant:159122 NM_015384.4(NIPBL):c.4636delC (p.Lys1548Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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824 ClinVarVariant:53529 NM_000492.3(CFTR):c.2620-26A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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825 ClinVarVariant:53519 NM_000492.3(CFTR):c.259T>A (p.Phe87Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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826 ClinVarVariant:7147 NM_000492.3(CFTR):c.429delT (p.Phe143Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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827 ClinVarVariant:7157 NM_000492.3(CFTR):c.2479G>T (p.Glu827Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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828 ClinVarVariant:53902 NM_000492.3(CFTR):c.4144C>T (p.Gln1382Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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829 ClinVarVariant:36482 NM_002335.3(LRP5):c.4635C>T (p.Thr1545=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:75706|PMID:21525520|PMID:16137956|PMID:12099988|PMID:21847749 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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830 MGI:2179062 Tg(Camk2a-tTA)1Mmay 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:18295356|PMID:20145109|PMID:16400147|PMID:24503275 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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831 ClinVarVariant:17975 NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19072562|PMID:18376109|PMID:9116423|PMID:3878661|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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832 ClinVarVariant:1578 NM_052910.2(SLITRK1):c.1264delC (p.Leu422Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8173824|PMID:1564054|PMID:8425124|PMID:23418216|PMID:20063404 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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833 ClinVarVariant:53912 NM_000492.3(CFTR):c.418C>T (p.Pro140Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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834 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 |
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835 ClinVarVariant:7177 NM_000492.3(CFTR):c.3718-1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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836 MGI:4461457 Tg(RP23-326M22)760She NCBITaxon:10090 Mus musculus RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:18285828|PMID:18285828|PMID:18285828 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct |
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837 ClinVarVariant:209045 NM_000492.3(CFTR):c.2658-1G>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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838 ClinVarVariant:53982 NM_000492.3(CFTR):c.500T>G (p.Leu167Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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839 ClinVarVariant:159102 NM_133433.3(NIPBL):c.3874G>T (p.Glu1292Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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840 MGI:2176596 Adcy8<tm1Ljm> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:10864938 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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841 ClinVarVariant:53972 NM_000492.3(CFTR):c.489G>A (p.Lys163=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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842 ClinVarVariant:159162 NM_133433.3(NIPBL):c.5862+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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843 dbSNP:rs7599488 rs7599488-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21326311|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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844 ClinVarVariant:159807 NM_006265.2(RAD21):c.1782C>T (p.Ala594=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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845 ClinVarVariant:12502 NM_003242.5(TGFBR2):c.944C>T (p.Thr315Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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846 ClinVarVariant:53922 NM_000492.3(CFTR):c.420dupA (p.Ala141Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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847 ClinVarVariant:7197 NM_000492.3(CFTR):c.326A>G (p.Tyr109Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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848 ClinVarVariant:53932 NM_000492.3(CFTR):c.4243-2A>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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849 ClinVarVariant:53942 NM_000492.3(CFTR):c.434T>A (p.Leu145His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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850 ClinVarVariant:93453 NM_001005741.2(GBA):c.508C>T (p.Arg170Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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851 ClinVarVariant:196715 NM_015384.4(NIPBL):c.5808+2T>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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852 ClinVarVariant:56289 NM_000086.2(CLN3):c.790+3A>C NCBITaxon:9606 Homo sapiens 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 |
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853 ClinVarVariant:53952 NM_000492.3(CFTR):c.446G>T (p.Gly149Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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854 ClinVarVariant:4526 NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) 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 |
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855 ClinVarVariant:53449 NM_000492.3(CFTR):c.217delC (p.Leu73Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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856 ClinVarVariant:53439 NM_000492.3(CFTR):c.2089dupA (p.Arg697Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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857 ClinVarVariant:7107 NM_000492.3(CFTR):c.1477C>T (p.Gln493Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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858 ClinVarVariant:53479 NM_000492.3(CFTR):c.2346C>A (p.Asn782Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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859 ClinVarVariant:10317 NM_000132.3(F8):c.6518C>T (p.Thr2173Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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860 ClinVarVariant:7137 NM_000492.3(CFTR):c.3484C>T (p.Arg1162Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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861 ClinVarVariant:51032 NC_000007.14:g.117602152_117612006del9855 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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862 ClinVarVariant:53429 NM_000492.3(CFTR):c.2036G>A (p.Trp679Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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863 ClinVarVariant:53469 NM_000492.3(CFTR):c.2286G>T (p.Gln762His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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864 ClinVarVariant:10307 NM_000132.3(F8):c.6263C>T (p.Ser2088Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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865 ClinVarVariant:159032 NM_133433.3(NIPBL):c.1297C>T (p.Gln433Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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866 ClinVarVariant:159042 NM_015384.4(NIPBL):c.201_212delTAGCCTCAACCA (p.His67_Asn70del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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867 MGI:4819832 Tg(tetO-MAPT*P301L)#Kha NCBITaxon:10090 Mus musculus NCBIGene:4137 microtubule associated protein tau MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:24503275 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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868 ClinVarVariant:7127 NM_000492.3(CFTR):c.2538G>A (p.Trp846Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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869 ClinVarVariant:10347 F8, EX19-21DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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870 ClinVarVariant:53499 NM_000492.3(CFTR):c.2491-23A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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871 ClinVarVariant:10337 F8, EX3-5DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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872 ClinVarVariant:66104 NM_000492.3(CFTR):c.3964-78_4242+577del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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873 ClinVarVariant:159072 NM_133433.3(NIPBL):c.3109A>G (p.Lys1037Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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874 ClinVarVariant:53459 NM_000492.3(CFTR):c.2248_2255delCCTCGCAT (p.Pro750Glnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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875 ClinVarVariant:10327 F8, TRP2229CYS NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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876 ClinVarVariant:53489 NM_000492.3(CFTR):c.2435dupT (p.Leu812Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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877 ClinVarVariant:159062 NM_015384.4(NIPBL):c.2711delG (p.Arg904Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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878 ClinVarVariant:180189 NM_015384.4(NIPBL):c.5212dupT (p.Ser1739Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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879 MGI:2386761 Esr2<tm1Mma> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11593044 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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880 ClinVarVariant:159082 NM_133433.3(NIPBL):c.3440G>A (p.Arg1147Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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881 ClinVarVariant:53419 NM_000492.3(CFTR):c.1981delA (p.Ile661Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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882 ClinVarVariant:126972 NM_017849.3(TMEM127):c.447G>A (p.Trp149Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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883 ClinVarVariant:126962 NM_017849.3(TMEM127):c.116_119delTGTC (p.Ile41Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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884 ClinVarVariant:159227 NM_015384.4(NIPBL):c.7336_7338delCCG (p.Pro2446del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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885 ClinVarVariant:180199 NM_005445.3(SMC3):c.2536-6_2540del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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886 ClinVarVariant:10290 NM_000132.3(F8):c.5622dupT (p.Leu1875Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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887 ClinVarVariant:159217 NM_133433.3(NIPBL):c.7012G>C (p.Ala2338Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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888 ClinVarVariant:10280 NM_000132.3(F8):c.5526G>A (p.Met1842Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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889 ClinVarVariant:159207 NM_015384.4(NIPBL):c.6653_6655delATA (p.Asn2218del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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890 ClinVarVariant:41588 NM_000179.2(MSH6):c.1526T>C (p.Val509Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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891 MGI:2181427 Pla2g4a<tm1Jvb> 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 |
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892 MGI:4459814 Pcsk1n<tm1Jep> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20367757 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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893 ClinVarVariant:3898 NM_000520.4(HEXA):c.805G>A (p.Gly269Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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894 ClinVarVariant:10270 F8, GLY1750ARG NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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895 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 |
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896 ClinVarVariant:12914 NM_152296.4(ATP1A3):c.2401G>T (p.Asp801Tyr) 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 |
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897 MGI:2183146 Tsc1<tm1Hin> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23250422 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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898 ClinVarVariant:1443 NM_000190.3(HMBS):c.77G>A (p.Arg26His) 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 |
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899 MGI:5646421 Mbt3 NCBITaxon:10090 Mus musculus MGI:5646421 Mbt3 MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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900 ClinVarVariant:10650 NM_000133.3(F9):c.1231A>G (p.Ser411Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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901 ClinVarVariant:140608 NM_032822.2(FAM136A):c.226C>T (p.Gln76Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:11486588|PMID:19828125|PMID:16374063|PMID:9792487|PMID:11349790 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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902 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 |
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903 ClinVarVariant:36567 NM_000251.2(MSH2):c.1661+12G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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904 ClinVarVariant:53332 NM_000492.3(CFTR):c.1680-870T>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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905 MGI:4418563 Ehmt1<tm1.1Tara> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20005824 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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906 ClinVarVariant:53302 NM_000492.3(CFTR):c.164+12T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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907 ClinVarVariant:36547 NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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908 MGI:3718452 Tg(SOD1)51Yg NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15016076 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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909 MGI:4819832 Tg(tetO-MAPT*P301L)#Kha NCBITaxon:10090 Mus musculus NCBIGene:4137 microtubule associated protein tau MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24503275 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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910 ClinVarVariant:102883 NM_000277.1(PAH):c.869A>G (p.His290Arg) 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 |
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911 ClinVarVariant:36557 NM_000249.3(MLH1):c.655A>G (p.Ile219Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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912 ClinVarVariant:53322 NM_000492.3(CFTR):c.1657C>G (p.Arg553Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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913 ClinVarVariant:90835 NM_000251.2(MSH2):c.2005+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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914 ClinVarVariant:9850 NM_000044.3(AR):c.2667C>T (p.Ser889=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17132758|PMID:17707426|PMID:21801726|PMID:18775430|PMID:1635303 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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915 ClinVarVariant:102823 NM_000277.1(PAH):c.754C>G (p.Arg252Gly) 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 |
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916 MGI:5563140 Stx1a<tm1Migar> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:24136198 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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917 ClinVarVariant:10240 NM_000132.3(F8):c.1957G>A (p.Val653Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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918 ClinVarVariant:10250 NM_000132.3(F8):c.2962_2963delAG (p.Ser988Trpfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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919 ClinVarVariant:10260 F8, 1-BP INS, A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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920 ClinVarVariant:10220 NM_000132.3(F8):c.1596dupG (p.Thr533Aspfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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921 ClinVarVariant:53382 NM_000492.3(CFTR):c.1766G>A (p.Ser589Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20495477|PMID:10361400|PMID:20171652|PMID:12796866|PMID:7866213 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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922 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:0000006|ECO:0000006 experimental evidence|experimental evidence|experimental evidence PMID:10818140|PMID:24504480|PMID:18931664|PMID:18931664|PMID:18931664 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct |
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diff
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|
923 dbSNP:rs12793173 rs12793173-C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:21602797|PMID:10361400 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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924 MGI:5634328 Tg(Eno2-APP*Ind)#Kakiz NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:24489866 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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925 MGI:5505780 Grin2b<tm1.1Nhk> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23201971 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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|
926 ClinVarVariant:16771 NM_000795.3(DRD2):c.460G>A (p.Val154Ile) 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 |
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927 ClinVarVariant:6894 NM_003002.3(SDHD):c.52+2T>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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928 ClinVarVariant:10230 NM_000132.3(F8):c.1750C>A (p.Gln584Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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|
929 ClinVarVariant:53392 NM_000492.3(CFTR):c.1802T>C (p.Ile601Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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|
930 ClinVarVariant:10640 NM_000133.3(F9):c.484C>T (p.Arg162Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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931 ClinVarVariant:10142 NM_000132.3(F8):c.1033G>T (p.Val345Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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932 ClinVarVariant:53969 NM_000492.3(CFTR):c.489+2T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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933 ClinVarVariant:53959 NM_000492.3(CFTR):c.473G>C (p.Ser158Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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934 ClinVarVariant:10152 NM_000132.3(F8):c.43C>T (p.Arg15Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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935 ClinVarVariant:10237 NM_000132.3(F8):c.1892A>G (p.Asn631Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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936 ClinVarVariant:90670 NM_000251.2(MSH2):c.1457_1460delATGA (p.Asn486Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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|
937 dbSNP:rs766432 rs766432-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:21326311|PMID:3375880|PMID:17938043|PMID:9491171|PMID:23406172|PMID:21425450|PMID:25042611 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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938 ClinVarVariant:10257 F8, 1-BP INS, A, CODON 1414 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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939 ClinVarVariant:10217 F8, GLY479ARG NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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940 ClinVarVariant:10247 NM_000132.3(F8):c.2215G>A (p.Glu739Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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941 ClinVarVariant:53369 NM_000492.3(CFTR):c.1744A>T (p.Thr582Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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942 ClinVarVariant:10207 NM_000132.3(F8):c.1197_1198delAA (p.Lys399Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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943 ClinVarVariant:8978 NM_001079668.2(NKX2-1):c.464-2A>T 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 |
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944 ClinVarVariant:53359 NM_000492.3(CFTR):c.1720C>T (p.Pro574Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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945 ClinVarVariant:10227 NM_000132.3(F8):c.1682A>G (p.Asp561Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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946 ClinVarVariant:53389 NM_000492.3(CFTR):c.1797T>A (p.Thr599=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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947 ClinVarVariant:3555 CLN3, IVSDS, G-C, +1/76-BP DEL NCBITaxon:9606 Homo sapiens 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 |
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948 MGI:3611059 Tg(Myh6-ERBB4)HT2Gass NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22378872 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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949 ClinVarVariant:53349 NM_000492.3(CFTR):c.1703delT (p.Leu568Cysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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950 ClinVarVariant:13918 NM_020975.4(RET):c.1902C>G (p.Cys634Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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951 ClinVarVariant:10252 NM_000132.3(F8):c.3548_3549delAA (p.Lys1183Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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952 ClinVarVariant:126969 NM_017849.3(TMEM127):c.409+1G>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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953 ClinVarVariant:53862 NM_000492.3(CFTR):c.3963+2T>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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954 ClinVarVariant:10267 NM_000132.3(F8):c.5143C>T (p.Arg1715Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:9302853|PMID:10734657|PMID:15357786 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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955 MGI:2446470 Tg(Camk2a-Fyn-531)1Nko NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:12399115 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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956 ClinVarVariant:53802 NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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957 ClinVarVariant:10277 NM_000132.3(F8):c.5408C>A (p.Ser1803Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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958 ClinVarVariant:38799 NM_000492.3(CFTR):c.489+1G>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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959 ClinVarVariant:10297 NM_000132.3(F8):c.5900G>A (p.Gly1967Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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960 MGI:3815539 Tg(MECP2)1Hzo NCBITaxon:10090 Mus musculus NCBIGene:4204 MECP2 MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:15351775 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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961 ClinVarVariant:5770 SGCE, 1-BP DEL, 565A 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 |
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962 ClinVarVariant:53832 NM_000492.3(CFTR):c.3874-1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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963 ClinVarVariant:53842 NM_000492.3(CFTR):c.388C>G (p.Leu130Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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964 ClinVarVariant:53812 NM_000492.3(CFTR):c.377G>A (p.Gly126Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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965 MGI:1888407 Chrna7<tm1Bay> 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 |
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966 ClinVarVariant:53822 NM_000492.3(CFTR):c.3848G>A (p.Arg1283Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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967 ClinVarVariant:53852 NM_000492.3(CFTR):c.3920A>G (p.Tyr1307Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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968 ClinVarVariant:53742 NM_000492.3(CFTR):c.3439G>A (p.Val1147Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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969 MGI:1933974 Ntrk2<tm2Kln> MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:18832146|PMID:10571233 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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970 ClinVarVariant:53752 NM_000492.3(CFTR):c.3469-2A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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971 ClinVarVariant:56259 NM_000086.2(CLN3):c.222+2T>G NCBITaxon:9606 Homo sapiens 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 |
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972 ClinVarVariant:53362 NM_000492.3(CFTR):c.1730A>T (p.Tyr577Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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973 ClinVarVariant:10200 F8, TRP323TER NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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974 ClinVarVariant:93448 NM_001005741.2(GBA):c.1240G>T (p.Val414Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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975 ClinVarVariant:10210 NM_000132.3(F8):c.1293G>T (p.Leu431Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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976 ClinVarVariant:53372 NM_000492.3(CFTR):c.175dupA (p.Arg59Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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977 ClinVarVariant:53897 NM_000492.3(CFTR):c.412_413insACT (p.Leu137_Leu138insHis) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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978 ClinVarVariant:621 NM_000277.1(PAH):c.731C>T (p.Pro244Leu) 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 |
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979 ClinVarVariant:159037 NM_015384.4(NIPBL):c.1514_1517delGAAA (p.Arg505Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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980 MGI:5516082 Slc6a2<tm1.1Mkh> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23580201 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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981 ClinVarVariant:54033 NM_000492.3(CFTR):c.647G>A (p.Trp216Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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982 ClinVarVariant:10090 F8, EX14DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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983 ClinVarVariant:611 NM_000277.1(PAH):c.165delT (p.Phe55Leufs) 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 |
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984 ClinVarVariant:54023 NM_000492.3(CFTR):c.601delG (p.Val201Cysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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985 ClinVarVariant:159027 NM_133433.3(NIPBL):c.1057A>T (p.Lys353Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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986 ClinVarVariant:54043 NM_000492.3(CFTR):c.711G>C (p.Gln237His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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987 ClinVarVariant:159047 NM_015384.4(NIPBL):c.2107_2108delCC (p.Pro703Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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988 ClinVarVariant:54083 NM_000492.3(CFTR):c.912C>G (p.Tyr304Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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989 ClinVarVariant:54053 NM_000492.3(CFTR):c.743G>C (p.Arg248Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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990 ClinVarVariant:159057 NM_133433.3(NIPBL):c.2489C>G (p.Ser830Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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991 MGI:3707315 Cadps2<tm1Tfr> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17380209 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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992 ClinVarVariant:159097 NM_133433.3(NIPBL):c.3855+1G>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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993 ClinVarVariant:54093 NM_000492.3(CFTR):c.95T>C (p.Leu32Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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994 MGI:3757650 Arhgef9<tm1.1Betz> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17690689 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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995 ClinVarVariant:31171 NM_145239.2(PRRT2):c.629dupC (p.Ala211Serfs) 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 |
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996 ClinVarVariant:89198 NM_000179.2(MSH6):c.1508C>G (p.Ser503Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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997 ClinVarVariant:53162 NM_000492.3(CFTR):c.1007T>A (p.Ile336Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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998 ClinVarVariant:159077 NM_133433.3(NIPBL):c.3305-1G>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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999 ClinVarVariant:54073 NM_000492.3(CFTR):c.862_869+1delTTAAGACAG NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1000 ClinVarVariant:159067 NM_015384.4(NIPBL):c.2903delA (p.Asn968Metfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1001 ClinVarVariant:54063 NM_000492.3(CFTR):c.80delG (p.Gly27Aspfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1002 ClinVarVariant:53817 NM_000492.3(CFTR):c.3822G>A (p.Trp1274Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1003 ClinVarVariant:53172 NM_000492.3(CFTR):c.1039C>T (p.Arg347Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1004 ClinVarVariant:53827 NM_000492.3(CFTR):c.3872A>G (p.Gln1291Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1005 ClinVarVariant:12780 SDHB, 1-BP DEL, 725C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1006 ClinVarVariant:10982 NM_001032383.1(PQBP1):c.640dupC (p.Arg214Profs) 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 |
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1007 ClinVarVariant:53857 NM_000492.3(CFTR):c.3935A>G (p.Asp1312Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1008 ClinVarVariant:53192 NM_000492.3(CFTR):c.1117-27_1117-26delTA NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1009 ClinVarVariant:53847 NM_000492.3(CFTR):c.3908delA (p.Asn1303Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1010 MGI:1857736 Cnr1<tm1Map> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15078564|PMID:11823890|PMID:12405999 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1011 ClinVarVariant:17085 NM_000249.3(MLH1):c.986A>C (p.His329Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1012 ClinVarVariant:3931 NM_000520.4(HEXA):c.611A>G (p.His204Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1013 ClinVarVariant:37235 VPS13A, TRP435TER 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 |
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1014 dbSNP:rs4833095 rs4833095-T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7861049|PMID:6668935|PMID:6819753|PMID:7278143|PMID:1784156 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1015 ClinVarVariant:17095 NM_000249.3(MLH1):c.1846_1848delAAG (p.Lys618del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1016 ClinVarVariant:53887 NM_000492.3(CFTR):c.409delC (p.Leu137Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1017 ClinVarVariant:54003 NM_000492.3(CFTR):c.574G>A (p.Asp192Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1018 ClinVarVariant:5775 SGCE, 1-BP DEL, 974C 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 |
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1019 ClinVarVariant:53867 NM_000492.3(CFTR):c.3982_3984delATAinsTT (p.Ile1328Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1020 ClinVarVariant:53877 NM_000492.3(CFTR):c.4039dupA (p.Ser1347Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1021 ClinVarVariant:54013 NM_000492.3(CFTR):c.57G>T (p.Trp19Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1022 ClinVarVariant:601 NM_000277.1(PAH):c.1197A>T (p.Val399=) 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 |
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1023 ClinVarVariant:10585 NM_000133.3(F9):c.572G>A (p.Arg191His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1024 ClinVarVariant:42472 NM_000179.2(MSH6):c.3991C>T (p.Arg1331Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1025 ClinVarVariant:10565 F9, ARG-1SER NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1026 ClinVarVariant:7415 NM_030756.4(TCF7L2):c.483+7162G>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1027 ClinVarVariant:3901 NM_000520.4(HEXA):c.1260G>C (p.Trp420Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1028 ClinVarVariant:10595 NM_000133.3(F9):c.709C>T (p.Gln237Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1029 ClinVarVariant:1756 NM_000251.2(MSH2):c.1915C>T (p.His639Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1030 ClinVarVariant:10575 F9, IVS3DS, T-G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1031 ClinVarVariant:788 NM_015141.3(GPD1L):c.370A>G (p.Ile124Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1032 ClinVarVariant:53787 NM_000492.3(CFTR):c.3680T>C (p.Leu1227Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1033 ClinVarVariant:10625 F9, EX4DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1034 ClinVarVariant:53777 NM_000492.3(CFTR):c.3605delA (p.Asp1202Alafs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1035 ClinVarVariant:10615 NM_000133.3(F9):c.1150C>T (p.Arg384Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1036 dbSNP:rs10172646 rs10172646-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21326311|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1037 ClinVarVariant:16214 NM_000806.5(GABRA1):c.965C>A (p.Ala322Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21703932|PMID:11319492|PMID:19453714|PMID:21683658|PMID:21041102 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1038 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 |
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1039 ClinVarVariant:53767 NM_000492.3(CFTR):c.3530delA (p.Lys1177Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1040 ClinVarVariant:10605 NM_000133.3(F9):c.998C>T (p.Pro333Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1041 MGI:3513042 Crhbp<tm1Afs> 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 |
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1042 ClinVarVariant:10665 NM_000133.3(F9):c.1031T>C (p.Ile344Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1043 ClinVarVariant:36770 NM_003000.2(SDHB):c.424-19_424-14dupTTCTTC NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1044 ClinVarVariant:10635 F9, EX5-8DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1045 ClinVarVariant:3911 NM_000520.4(HEXA):c.78G>A (p.Trp26Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1046 ClinVarVariant:4309 NM_001005741.2(GBA):c.751T>C (p.Tyr251His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1047 ClinVarVariant:10655 F9, 17747G-C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1048 ClinVarVariant:29654 NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1049 ClinVarVariant:53727 NM_000492.3(CFTR):c.3368-1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1050 MGI:3605006 Efna3<tm1Rax> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:25281279 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1051 MGI:3041622 Axtofd4<L2> HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:14990867 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1052 ClinVarVariant:53737 NM_000492.3(CFTR):c.3418_3420delATG (p.Met1140del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1053 ClinVarVariant:13405 NM_000311.3(PRNP):c.538G>A (p.Val180Ile) NCBITaxon:9606 Homo sapiens 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 |
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1054 ClinVarVariant:53757 NM_000492.3(CFTR):c.3476C>T (p.Ser1159Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1055 ClinVarVariant:56270 NM_000086.2(CLN3):c.461-13G>C NCBITaxon:9606 Homo sapiens 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 |
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1056 MGI:5553462 Tg(Prnp-APPSweArc)#Rmni NCBITaxon:10090 Mus musculus NCBIGene:351 APP MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16876915 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1057 ClinVarVariant:53707 NM_000492.3(CFTR):c.3292T>C (p.Trp1098Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1058 ClinVarVariant:211661 NM_015384.4(NIPBL):c.7816dupA (p.Ile2606Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1059 ClinVarVariant:41716 NM_000535.5(PMS2):c.59G>A (p.Arg20Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1060 ClinVarVariant:211631 NM_015384.4(NIPBL):c.314dupA (p.Asn105Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1061 ClinVarVariant:53717 NM_000492.3(CFTR):c.3315delG (p.Met1105Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1062 ClinVarVariant:53747 NM_000492.3(CFTR):c.3458T>A (p.Val1153Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1063 ClinVarVariant:56250 NM_000086.2(CLN3):c.1195G>T (p.Glu399Ter) NCBITaxon:9606 Homo sapiens 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 |
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1064 ClinVarVariant:56280 NM_000086.2(CLN3):c.558_559delAG (p.Gly187Aspfs) NCBITaxon:9606 Homo sapiens 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 |
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1065 ClinVarVariant:102618 NM_000277.1(PAH):c.183C>G (p.Asn61Lys) 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 |
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1066 ClinVarVariant:56260 NM_000086.2(CLN3):c.222+5G>C NCBITaxon:9606 Homo sapiens 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 |
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1067 ClinVarVariant:120294 NM_000277.1(PAH):c.913-3C>G 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 |
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1068 ClinVarVariant:53187 NM_000492.3(CFTR):c.1094T>C (p.Leu365Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1069 ClinVarVariant:4292 NM_001005741.2(GBA):c.1297G>T (p.Val433Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1070 ClinVarVariant:53197 NM_000492.3(CFTR):c.1128dupA (p.Gln378Alafs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1071 ClinVarVariant:53339 NM_000492.3(CFTR):c.1680A>C (p.Arg560Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1072 ClinVarVariant:99940 NM_015384.4(NIPBL):c.7327C>T (p.Gln2443Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1073 ClinVarVariant:53319 NM_000492.3(CFTR):c.1650delA (p.Gly551Valfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1074 ClinVarVariant:5287 PDE11A, 1-BP DEL, 171T 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 |
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1075 ClinVarVariant:10660 NM_000133.3(F9):c.1151G>C (p.Arg384Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1076 ClinVarVariant:17100 MLH1, 3-BP DEL, 213AGA NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1077 ClinVarVariant:99930 NM_015384.4(NIPBL):c.4511T>A (p.Leu1504Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1078 ClinVarVariant:53309 NM_000492.3(CFTR):c.164+9A>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1079 MGI:3604457 B3galt2<tm1Dgen> 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 |
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1080 ClinVarVariant:99920 NM_015384.4(NIPBL):c.133C>T (p.Arg45Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1081 MGI:1861234 Wt NCBITaxon:10090 Mus musculus MGI:1861234 Wt MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:13834122 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1082 ClinVarVariant:626 NM_000277.1(PAH):c.1076C>G (p.Ser359Ter) 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 |
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1083 ClinVarVariant:54038 NM_000492.3(CFTR):c.673T>C (p.Cys225Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1084 ClinVarVariant:183259 NM_032409.2(PINK1):c.799C>T (p.Gln267Ter) 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 |
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1085 ClinVarVariant:53620 NM_000492.3(CFTR):c.2998delA (p.Ile1000Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1086 MGI:2387415 Hrh3<tm1Twl> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15078574 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1087 ClinVarVariant:10095 F8, EX1DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1088 ClinVarVariant:54028 NM_000492.3(CFTR):c.618G>T (p.Leu206Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1089 ClinVarVariant:53630 NM_000492.3(CFTR):c.3023T>A (p.Val1008Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1090 ClinVarVariant:54078 NM_000492.3(CFTR):c.877C>A (p.Leu293Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1091 ClinVarVariant:53660 NM_000492.3(CFTR):c.3139_3139+1delGG NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1092 ClinVarVariant:89696 NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1093 ClinVarVariant:53650 NM_000492.3(CFTR):c.3103C>T (p.Gln1035Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1094 ClinVarVariant:606 PAH, SER349ARG 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 |
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1095 ClinVarVariant:10085 NM_000132.3(F8):c.6976C>T (p.Arg2326Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1096 ClinVarVariant:54018 NM_000492.3(CFTR):c.595C>T (p.His199Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1097 ClinVarVariant:53600 NM_000492.3(CFTR):c.292C>T (p.Gln98Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1098 ClinVarVariant:54008 NM_000492.3(CFTR):c.578_579+5delAAGTATG NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1099 ClinVarVariant:10610 F9, TRP310TER NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1100 ClinVarVariant:53772 NM_000492.3(CFTR):c.357delC (p.Ile119Metfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1101 ClinVarVariant:53732 NM_000492.3(CFTR):c.3400_3401delACinsGTA (p.Thr1134Valfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1102 ClinVarVariant:10137 F8, EX5DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1103 ClinVarVariant:53299 NM_000492.3(CFTR):c.1611C>A (p.Asp537Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1104 ClinVarVariant:17090 NM_000249.3(MLH1):c.1733A>G (p.Glu578Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1105 ClinVarVariant:17080 NM_000249.3(MLH1):c.1852_1854delAAG (p.Lys618del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1106 dbSNP:rs7948471 rs7948471-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:23406172|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1107 ClinVarVariant:10147 NM_000132.3(F8):c.6955C>T (p.Pro2319Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1108 ClinVarVariant:10177 NM_000132.3(F8):c.541G>A (p.Val181Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1109 ClinVarVariant:53702 NM_000492.3(CFTR):c.327T>A (p.Tyr109Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1110 ClinVarVariant:10187 F8, GLY259ARG NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1111 ClinVarVariant:10197 NM_000132.3(F8):c.940A>G (p.Thr314Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1112 MGI:2178542 Comt<tm1Kara> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:9707588 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1113 ClinVarVariant:10157 F8, 10-BP INS, FS NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1114 ClinVarVariant:10167 NM_000132.3(F8):c.323A>C (p.Lys108Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1115 ClinVarVariant:10570 NM_000133.3(F9):c.79G>A (p.Glu27Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1116 ClinVarVariant:10580 NM_000133.3(F9):c.329A>G (p.Asp110Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1117 ClinVarVariant:4304 NM_001005741.2(GBA):c.27+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7554686|PMID:23510063|PMID:20635362|PMID:9333269|PMID:12581195 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1118 ClinVarVariant:211143 NM_018486.2(HDAC8):c.770C>A (p.Pro257His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1119 ClinVarVariant:53229 NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1120 ClinVarVariant:4314 NM_001005741.2(GBA):c.680A>G (p.Asn227Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1121 ClinVarVariant:53209 NM_000492.3(CFTR):c.1181T>G (p.Met394Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1122 ClinVarVariant:4324 NM_001005741.2(GBA):c.1319C>T (p.Pro440Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1123 ClinVarVariant:53219 NM_000492.3(CFTR):c.1220A>T (p.Glu407Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1124 MGI:3844445 Tg(Thy1-Nlgn2)6Hnes NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18550748 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1125 ClinVarVariant:53249 NM_000492.3(CFTR):c.1407G>T (p.Met469Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1126 ClinVarVariant:53259 NM_000492.3(CFTR):c.1466C>A (p.Ser489Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1127 ClinVarVariant:10107 F8, EX15DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1128 ClinVarVariant:53269 NM_000492.3(CFTR):c.149C>A (p.Ser50Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1129 MGI:1888773 Prnp<tm1Cwe> 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 |
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1130 ClinVarVariant:10117 F8, EX11-18DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1131 ClinVarVariant:53279 NM_000492.3(CFTR):c.1523T>C (p.Phe508Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1132 MGI:5509054 Uba6<tm1Whpr> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23499007 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1133 ClinVarVariant:10127 NM_000132.3(F8):c.6554T>C (p.Leu2185Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1134 MGI:2137555 Mecp2<tm1Bird> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:18321864 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1135 ClinVarVariant:56267 NM_000086.2(CLN3):c.379delC (p.Arg127Glyfs) NCBITaxon:9606 Homo sapiens 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 |
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1136 ClinVarVariant:56257 NM_000086.2(CLN3):c.1A>C (p.Met1Leu) NCBITaxon:9606 Homo sapiens 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 |
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1137 ClinVarVariant:56247 NM_000086.2(CLN3):c.1056+3A>C NCBITaxon:9606 Homo sapiens 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 |
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1138 ClinVarVariant:36580 NM_000251.2(MSH2):c.942+3A>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1139 MGI:3510602 Tg(Thy1-APP<SL>)28Lpr NCBITaxon:10090 Mus musculus NCBIGene:351 APP MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18184372 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1140 ClinVarVariant:7235 NM_000492.3(CFTR):c.19G>T (p.Glu7Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1141 MGI:1857212 Ldlr<tm1Her> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16236385 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1142 ClinVarVariant:56287 NM_000086.2(CLN3):c.622dupT (p.Ser208Phefs) NCBITaxon:9606 Homo sapiens 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 |
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1143 MGI:2446434 En1<tm2(cre)Wrst> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19679071 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1144 ClinVarVariant:5563 MLH3, 1-BP DEL, 885G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1145 ClinVarVariant:7225 NM_000492.3(CFTR):c.1658G>A (p.Arg553Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1146 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 |
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1147 ClinVarVariant:53597 NM_000492.3(CFTR):c.2918T>A (p.Leu973His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1148 ClinVarVariant:56277 NM_000086.2(CLN3):c.509T>C (p.Leu170Pro) NCBITaxon:9606 Homo sapiens 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 |
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1149 MGI:3603141 Bace1<tm1Psa> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:15987683 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1150 ClinVarVariant:189248 NM_019026.4(TMCO1):c.240_243delGGTT (p.Val81Thrfs) NCBITaxon:9606 Homo sapiens HP:0000739 Anxiety ECO:0000501|ECO:0000501 evidence used in automatic assertion|evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1151 ClinVarVariant:88739 NM_019026.4(TMCO1):c.412C>T (p.Arg138Ter) NCBITaxon:9606 Homo sapiens HP:0000739 Anxiety ECO:0000501|ECO:0000501 evidence used in automatic assertion|evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1152 ClinVarVariant:7215 NM_000492.3(CFTR):c.3700A>G (p.Ile1234Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1153 MGI:5644306 Baiap3<tm1Smwk> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23698091 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1154 ClinVarVariant:53587 NM_000492.3(CFTR):c.2896delA (p.Thr966Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1155 ClinVarVariant:10310 F8, CYS2105TYR NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1156 ClinVarVariant:53472 NM_000492.3(CFTR):c.2297G>T (p.Arg766Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1157 ClinVarVariant:7110 NM_000492.3(CFTR):c.1040G>C (p.Arg347Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20495477|PMID:10361400|PMID:20171652|PMID:12796866|PMID:7866213 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1158 ClinVarVariant:3908 NM_000520.4(HEXA):c.629C>T (p.Ser210Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1159 MGI:5574216 Grin1<tm1Jjwd> HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:24244696 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1160 ClinVarVariant:7140 NM_000492.3(CFTR):c.1545_1546delTA (p.Tyr515Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1161 ClinVarVariant:10350 F8, 1-BP DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1162 MGI:3762883 Slc12a5<tm1Hsav> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15813942 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1163 ClinVarVariant:10320 NM_000132.3(F8):c.6545G>A (p.Arg2182His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1164 ClinVarVariant:53482 NM_000492.3(CFTR):c.236G>A (p.Trp79Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1165 ClinVarVariant:3918 HEXA, 1-BP INS NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1166 ClinVarVariant:7120 NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1167 ClinVarVariant:10330 NM_000132.3(F8):c.6865C>T (p.Gln2289Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1168 MGI:3692442 Rgs9<tm1(cre)Yql> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24784230 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1169 ClinVarVariant:10340 F8, EX10DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1170 ClinVarVariant:7160 NM_000492.3(CFTR):c.3873+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1171 ClinVarVariant:12787 NM_003000.2(SDHB):c.395A>C (p.His132Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1172 MGI:3768527 Mapt<tm1(MAPT)Vln> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:17341679 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1173 ClinVarVariant:7170 NM_000492.3(CFTR):c.744-14_744-3delTGATTGATTTAC NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1174 ClinVarVariant:159210 NM_133433.3(NIPBL):c.6892C>T (p.Arg2298Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1175 ClinVarVariant:159200 NM_133433.3(NIPBL):c.6589+9A>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1176 ClinVarVariant:159230 NM_015384.4(NIPBL):c.7439_7440delGA (p.Arg2480Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1177 ClinVarVariant:159220 NM_133433.3(NIPBL):c.7102C>T (p.Gln2368Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1178 MGI:5297824 Lrrc7<tm1.1Mabk> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:22072671 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1179 ClinVarVariant:159945 NM_006306.3(SMC1A):c.1877G>A (p.Arg626His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1180 ClinVarVariant:53607 NM_000492.3(CFTR):c.2953G>C (p.Asp985His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1181 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 |
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1182 ClinVarVariant:159955 NM_006306.3(SMC1A):c.3252C>T (p.Ile1084=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1183 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 |
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1184 ClinVarVariant:191380 NM_174934.3(SCN4B):c.617C>T (p.Ser206Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1185 ClinVarVariant:53637 NM_000492.3(CFTR):c.303dupA (p.Leu102Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1186 ClinVarVariant:159975 NM_005445.3(SMC3):c.2329T>C (p.Leu777=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1187 ClinVarVariant:53647 NM_000492.3(CFTR):c.3083T>G (p.Met1028Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1188 ClinVarVariant:4684 VPS13A, 260-BP DEL 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 |
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1189 ClinVarVariant:209193 NM_005445.3(SMC3):c.587T>C (p.Ile196Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1190 dbSNP:rs67072384 rs67072384-T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:25670933|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1191 ClinVarVariant:53627 NM_000492.3(CFTR):c.3017C>A (p.Ala1006Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1192 ClinVarVariant:3891 NM_000520.4(HEXA):c.-2564_253+5128delinsG NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1193 MGI:5516082 Slc6a2<tm1.1Mkh> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23580201 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1194 ClinVarVariant:7155 NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1195 ClinVarVariant:7145 NM_000492.3(CFTR):c.720_741del22 (p.Gly241Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1196 ClinVarVariant:67013 NM_000218.2(KCNQ1):c.1135T>C (p.Trp379Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1197 ClinVarVariant:7135 NM_000492.3(CFTR):c.1081delT (p.Trp361Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1198 MGI:2684825 Bace1<tm1Cdi> HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:14664815 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1199 ClinVarVariant:10345 F8, EX18-19DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1200 ClinVarVariant:7165 NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1201 ClinVarVariant:212272 NM_005445.3(SMC3):c.2636G>C (p.Arg879Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1202 ClinVarVariant:53940 NM_000492.3(CFTR):c.4312C>T (p.Arg1438Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1203 ClinVarVariant:159100 NM_015384.4(NIPBL):c.3866_3869delCTGA (p.Thr1289Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1204 ClinVarVariant:53960 NM_000492.3(CFTR):c.474dupT (p.Leu159Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1205 MGI:3611335 Gria2<tm3Rsp> 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 |
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1206 MGI:2447863 Gjb6<tm1Kwi> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:12911759 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1207 ClinVarVariant:53950 NM_000492.3(CFTR):c.444_445insCTA (p.Ile148_Gly149insLeu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1208 dbSNP:rs1669539 rs1669539-T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21425450|PMID:24058526 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1209 ClinVarVariant:53920 NM_000492.3(CFTR):c.4202A>C (p.Glu1401Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1210 ClinVarVariant:7185 NM_000492.3(CFTR):c.2175dupA (p.Glu726Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1211 ClinVarVariant:208181 NM_000277.1(PAH):c.836C>T (p.Pro279Leu) 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 |
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1212 ClinVarVariant:7175 NM_000492.3(CFTR):c.2490+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1213 ClinVarVariant:10335 F8, EX1-6DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1214 ClinVarVariant:53497 NM_000492.3(CFTR):c.2490+2_2490+7delTAGGTA NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1215 ClinVarVariant:135835 NM_000179.2(MSH6):c.2384T>C (p.Ile795Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1216 ClinVarVariant:7115 NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1217 ClinVarVariant:53487 NM_000492.3(CFTR):c.2417A>G (p.Asp806Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1218 ClinVarVariant:7105 NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1219 ClinVarVariant:10315 NM_000132.3(F8):c.6506G>A (p.Arg2169His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1220 ClinVarVariant:53900 NM_000492.3(CFTR):c.4141T>C (p.Tyr1381His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1221 ClinVarVariant:53557 NM_000492.3(CFTR):c.2749T>G (p.Tyr917Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1222 ClinVarVariant:4662 NM_015074.3(KIF1B):c.4442G>A (p.Ser1481Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1223 MGI:2682061 Ext1<tm1Yama> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22411800 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1224 ClinVarVariant:197125 NM_000277.1(PAH):c.357delC (p.Trp120Glyfs) 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 |
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1225 MGI:3848928 Dlg4<tm2.1Grnt> HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:20952458 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1226 ClinVarVariant:53547 NM_000492.3(CFTR):c.2719A>G (p.Ile907Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1227 ClinVarVariant:53567 NM_000492.3(CFTR):c.2777delT (p.Leu926Cysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1228 ClinVarVariant:60700 NM_007262.4(PARK7):c.-24+75_-24+92dup 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 |
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1229 ClinVarVariant:53577 NM_000492.3(CFTR):c.2846A>G (p.His949Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1230 ClinVarVariant:2409 NM_032409.2(PINK1):c.1570_1573dupTTAG (p.Asp525Valfs) 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 |
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1231 ClinVarVariant:92729 NM_000277.1(PAH):c.1068C>A (p.Tyr356Ter) 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 |
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1232 ClinVarVariant:53527 NM_000492.3(CFTR):c.2620-1G>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1233 ClinVarVariant:53457 NM_000492.3(CFTR):c.2233G>T (p.Gly745Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1234 dbSNP:rs1896295 rs1896295-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21326311|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1235 ClinVarVariant:30555 WFS1, LYS836ASN 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 |
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1236 ClinVarVariant:53467 NM_000492.3(CFTR):c.2279C>T (p.Thr760Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1237 ClinVarVariant:10305 NM_000132.3(F8):c.6113A>G (p.Asn2038Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1238 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 |
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1239 ClinVarVariant:75239 NM_002608.2(PDGFB):c.356T>C (p.Leu119Pro) 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 |
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1240 ClinVarVariant:53537 NM_000492.3(CFTR):c.2657+3delG NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1241 dbSNP:rs17020489 rs17020489-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:25042611|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1242 ClinVarVariant:53517 NM_000492.3(CFTR):c.2591_2592delTT (p.Ile864Metfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1243 ClinVarVariant:159190 NM_015384.4(NIPBL):c.6362_6364delAAA (p.Lys2121del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1244 ClinVarVariant:53507 NM_000492.3(CFTR):c.2522C>G (p.Pro841Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1245 ClinVarVariant:159170 NM_133433.3(NIPBL):c.6068A>G (p.His2023Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1246 ClinVarVariant:159140 NM_133433.3(NIPBL):c.5327A>T (p.Gln1776Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1247 ClinVarVariant:92044 NM_002501.3(NFIX):c.716C>G (p.Ser239Ter) NCBITaxon:9606 Homo sapiens 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 |
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1248 ClinVarVariant:159180 NM_133433.3(NIPBL):c.6182C>T (p.Pro2061Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1249 MGI:2386761 Esr2<tm1Mma> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:11593044 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1250 MGI:3522476 Als2<tm1Cai> 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 |
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1251 ClinVarVariant:159150 NM_133433.3(NIPBL):c.5455C>T (p.Arg1819Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1252 ClinVarVariant:100730 NM_000520.4(HEXA):c.718_719insT (p.Lys240Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1253 ClinVarVariant:209053 NM_000492.3(CFTR):c.(743+1_744-1)_(1584+1_1585-1)dup NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1254 ClinVarVariant:53980 NM_000492.3(CFTR):c.4C>T (p.Gln2Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1255 ClinVarVariant:161385 NM_003000.2(SDHB):c.716C>G (p.Ser239Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1256 ClinVarVariant:209063 NM_000492.3:c.(273+1_274-1)_(1116+1_1117-1)del(1584+1_1585-1)_(3468+1_3469-1)del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1257 ClinVarVariant:159120 NM_015384.4(NIPBL):c.456delC (p.Ser153Alafs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1258 ClinVarVariant:53990 NM_000492.3(CFTR):c.530T>C (p.Ile177Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1259 MGI:3605006 Efna3<tm1Rax> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:25281279 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1260 MGI:3664862 Bdnf<tm1Flee> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17023662 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1261 ClinVarVariant:581 NM_000277.1(PAH):c.331C>T (p.Arg111Ter) 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 |
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1262 ClinVarVariant:99935 NM_015384.4(NIPBL):c.585C>G (p.Tyr195Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1263 ClinVarVariant:17105 NM_000249.3(MLH1):c.104_105delTGinsAC (p.Met35Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1264 ClinVarVariant:53657 NM_000492.3(CFTR):c.3139+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1265 ClinVarVariant:53667 NM_000492.3(CFTR):c.3160C>G (p.His1054Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1266 ClinVarVariant:53677 NM_000492.3(CFTR):c.3196C>A (p.Arg1066Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1267 ClinVarVariant:53692 NM_000492.3(CFTR):c.323C>T (p.Ser108Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1268 MGI:2183639 Tg(App)1874Kha NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:7576662 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1269 ClinVarVariant:2139 NM_015384.4(NIPBL):c.2T>A (p.Met1Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1270 ClinVarVariant:31168 PRRT2, 1-BP DUP, 649C 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 |
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1271 MGI:2176750 Bdnf<tm3Jae> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11579207 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1272 ClinVarVariant:53672 NM_000492.3(CFTR):c.3181G>C (p.Gly1061Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1273 ClinVarVariant:53239 NM_000492.3(CFTR):c.1392+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1274 ClinVarVariant:10590 NM_000133.3(F9):c.676C>T (p.Arg226Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1275 MGI:5007226 Lrrn1<tm1Lex> 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 |
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1276 MGI:2388945 Ctns<tm1Antc> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:12370309 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1277 ClinVarVariant:159232 NM_133433.3(NIPBL):c.7625G>A (p.Gly2542Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1278 ClinVarVariant:4686 VPS13A, 8035G-A 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 |
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1279 ClinVarVariant:159252 NM_015384.4(NIPBL):c.892delC (p.Gln298Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1280 ClinVarVariant:159242 NM_133433.3(NIPBL):c.8173G>C (p.Ala2725Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1281 MGI:1857158 Drd1<tm1Jcd> MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:10884517|PMID:10884517 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1282 ClinVarVariant:3893 NM_000520.4(HEXA):c.346+1G>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1283 MGI:2656648 Drd2<tm1Yyw> 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 |
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1284 ClinVarVariant:53652 NM_000492.3(CFTR):c.3107C>A (p.Thr1036Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1285 ClinVarVariant:159990 NM_005445.3(SMC3):c.707G>C (p.Arg236Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1286 MGI:3696968 Lmx1b<tm1Zfc> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:18695238 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1287 MGI:5559062 Nenf<tm1Mkga> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24058337 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1288 ClinVarVariant:8188 NM_000579.3(CCR5):c.303T>A (p.Cys101Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12098612|PMID:3167473|PMID:22276472|PMID:2751944|PMID:2801829 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1289 MGI:3579440 Gabrg2<tm2Geh> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15850489 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1290 ClinVarVariant:209174 NM_002501.3(NFIX):c.338_342dupAGATC (p.Arg116Serfs) NCBITaxon:9606 Homo sapiens 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 |
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1291 ClinVarVariant:2149 NIPBL, IVS44DS, A-G, +4 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1292 ClinVarVariant:89698 NM_000249.3(MLH1):c.1327A>C (p.Lys443Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1293 ClinVarVariant:53662 NM_000492.3(CFTR):c.3140-4A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1294 ClinVarVariant:159212 NM_133433.3(NIPBL):c.6935G>T (p.Gly2312Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1295 ClinVarVariant:216926 NM_000133.3(F9):c.835G>A (p.Ala279Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1296 ClinVarVariant:8503 NM_001127221.1(CACNA1A):c.4366G>T (p.Val1456Leu) 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 |
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1297 MGI:3057337 Maoa<K284stop> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15272015 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1298 MGI:3829789 Tg(YAC18)18Hay NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23001568 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1299 ClinVarVariant:159222 NM_133433.3(NIPBL):c.7141G>A (p.Gly2381Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1300 ClinVarVariant:8513 NM_001127221.1(CACNA1A):c.4037G>A (p.Arg1346Gln) 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 |
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1301 ClinVarVariant:53342 NM_000492.3(CFTR):c.1687T>G (p.Tyr563Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1302 ClinVarVariant:36577 NM_000251.2(MSH2):c.380A>G (p.Asn127Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1303 ClinVarVariant:10190 NM_000132.3(F8):c.881C>T (p.Thr294Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1304 ClinVarVariant:53997 NM_000492.3(CFTR):c.547C>A (p.Leu183Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1305 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 |
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1306 ClinVarVariant:159127 NM_133433.3(NIPBL):c.4712C>A (p.Ser1571Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1307 ClinVarVariant:10150 F8, IVS22 INV NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1308 ClinVarVariant:53957 NM_000492.3(CFTR):c.463G>C (p.Ala155Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1309 ClinVarVariant:10140 NM_000132.3(F8):c.5821A>G (p.Asn1941Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1310 ClinVarVariant:53947 NM_000492.3(CFTR):c.4426C>T (p.Gln1476Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1311 ClinVarVariant:10130 F8, EX15-18DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1312 MGI:5085894 Emc10<Gt(OST181617)Lex> 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 |
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1313 ClinVarVariant:10180 NM_000132.3(F8):c.670G>T (p.Gly224Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1314 ClinVarVariant:159107 NM_015384.4(NIPBL):c.4143_4144delAG (p.Arg1381Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1315 ClinVarVariant:53987 NM_000492.3(CFTR):c.526delA (p.Ser176Valfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1316 ClinVarVariant:159147 NM_133433.3(NIPBL):c.5365C>T (p.Arg1789Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1317 ClinVarVariant:156504 NM_000251.2(MSH2):c.2304delA (p.Glu768Aspfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1318 ClinVarVariant:53252 NM_000492.3(CFTR):c.1433_1434delCA (p.Ser478Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1319 ClinVarVariant:53907 NM_000492.3(CFTR):c.4163T>A (p.Leu1388Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1320 ClinVarVariant:53262 NM_000492.3(CFTR):c.1478A>C (p.Gln493Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1321 ClinVarVariant:10100 F8, EX2-3DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1322 MGI:5607312 Hprt<tm5(Camk2a-BACE1)Geno> NCBITaxon:9606 Homo sapiens 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 |
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1323 ClinVarVariant:16148 NM_000176.2(NR3C1):c.1891_1892+2delGAGT 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 |
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1324 ClinVarVariant:53212 NM_000492.3(CFTR):c.1202G>A (p.Trp401Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1325 MGI:3604469 Kcnh5<tm1Dgen> 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 |
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1326 ClinVarVariant:53222 NM_000492.3(CFTR):c.1240C>T (p.Gln414Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1327 ClinVarVariant:53917 NM_000492.3(CFTR):c.4200_4201delTG (p.Cys1400Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1328 ClinVarVariant:10110 NM_000132.3(F8):c.5879G>A (p.Arg1960Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:9302853|PMID:10734657|PMID:15357786 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1329 ClinVarVariant:53927 NM_000492.3(CFTR):c.4241T>C (p.Leu1414Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1330 ClinVarVariant:159177 NM_133433.3(NIPBL):c.6158T>C (p.Leu2053Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1331 ClinVarVariant:161126 NM_152296.4(ATP1A3):c.979_981delCTG (p.Leu327del) 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 |
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1332 ClinVarVariant:102723 NM_000277.1(PAH):c.526C>T (p.Arg176Ter) 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 |
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1333 MGI:2448275 tmgc10 NCBITaxon:10090 Mus musculus MGI:2448275 tmgc10 HP:0000739 Anxiety ECO:0000006 experimental evidence MGI:2448159 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1334 ClinVarVariant:96344 NM_015384.4(NIPBL):c.5440C>T (p.Arg1814Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1335 ClinVarVariant:8488 NM_001127221.1(CACNA1A):c.1997C>T (p.Thr666Met) 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 |
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1336 ClinVarVariant:159197 NM_133433.3(NIPBL):c.6565C>T (p.Gln2189Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1337 ClinVarVariant:9830 NM_000044.3(AR):c.2521C>T (p.Arg841Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17132758|PMID:17707426|PMID:21801726|PMID:18775430|PMID:1635303 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1338 ClinVarVariant:102803 NM_000277.1(PAH):c.721C>T (p.Arg241Cys) 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 |
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1339 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 |
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1340 ClinVarVariant:159167 NM_133433.3(NIPBL):c.598C>T (p.Gln200Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1341 ClinVarVariant:159157 NM_133433.3(NIPBL):c.5709+2T>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1342 ClinVarVariant:102703 NM_000277.1(PAH):c.500A>G (p.Asn167Ser) 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 |
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1343 ClinVarVariant:2142 NIPBL, 1-BP INS, 7306G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1344 MGI:3815538 Tg(MECP2)3Hzo NCBITaxon:10090 Mus musculus NCBIGene:4204 MECP2 MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22231481 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1345 ClinVarVariant:161146 NM_152296.4(ATP1A3):c.2600G>A (p.Gly867Asp) 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 |
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1346 ClinVarVariant:53202 NM_000492.3(CFTR):c.1152delA (p.Glu384Aspfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1347 ClinVarVariant:161156 NM_152296.4(ATP1A3):c.1144T>C (p.Trp382Arg) 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 |
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1348 ClinVarVariant:53292 NM_000492.3(CFTR):c.1585G>C (p.Asp529His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1349 ClinVarVariant:141422 NM_173851.2(SLC30A8):c.101_107delAAGATCA (p.Lys34Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1350 ClinVarVariant:10170 F8, GLY111ARG NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1351 ClinVarVariant:53977 NM_000492.3(CFTR):c.494delT (p.Leu165Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1352 dbSNP:rs7203560 rs7203560-G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:23406172|PMID:17938043|PMID:9491171|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1353 ClinVarVariant:10160 NM_000132.3(F8):c.364_365delGT (p.Val122Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1354 MGI:5521184 Tg(Thy1-Tcf4)1Mjro NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20434134 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1355 ClinVarVariant:16158 NM_001018077.1(NR3C1):c.2209T>C (p.Phe737Leu) 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 |
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1356 ClinVarVariant:51027 NM_000492.3(CFTR):c.-887C>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1357 MGI:5298021 Gria4<tm1Yfkk> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20662939 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1358 ClinVarVariant:53232 NM_000492.3(CFTR):c.1331T>G (p.Ile444Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1359 ClinVarVariant:53242 NM_000492.3(CFTR):c.1393-1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1360 ClinVarVariant:53282 NM_000492.3(CFTR):c.1573C>T (p.Gln525Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1361 ClinVarVariant:53937 NM_000492.3(CFTR):c.4276T>C (p.Ser1426Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1362 ClinVarVariant:56292 NM_000086.2(CLN3):c.944dupA (p.His315Glnfs) NCBITaxon:9606 Homo sapiens 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1363 MGI:3822008 Vnhv2<C57BL/6J> MP:0002797 increased thigmotaxis ECO:0000304 traceable author statement used in manual assertion PMID:18721828 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1364 ClinVarVariant:53159 NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1365 ClinVarVariant:120266 NM_000277.1(PAH):c.164T>C (p.Phe55Ser) 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 |
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1366 ClinVarVariant:53199 NM_000492.3(CFTR):c.1135G>A (p.Glu379Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1367 ClinVarVariant:53189 NM_000492.3(CFTR):c.1116+17C>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1368 ClinVarVariant:120296 NM_000277.1(PAH):c.916delA (p.Ile306Leufs) 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 |
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1369 ClinVarVariant:10979 NM_001032383.1(PQBP1):c.461_462dupAG (p.Arg155Serfs) 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 |
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1370 ClinVarVariant:53179 NM_000492.3(CFTR):c.1069delG (p.Ala357Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1371 ClinVarVariant:159940 NM_006306.3(SMC1A):c.1267C>A (p.Gln423Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1372 MGI:2679626 Cplx2<tm1Rmnd> HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:12915444 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1373 ClinVarVariant:8191 NM_000579.3(CCR5):c.180G>T (p.Arg60Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12098612|PMID:3167473|PMID:22276472|PMID:2751944|PMID:2801829 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1374 ClinVarVariant:120276 NM_000277.1(PAH):c.442-2A>C 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 |
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1375 ClinVarVariant:53169 NM_000492.3(CFTR):c.1029_1030insG (p.Ile344Aspfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1376 ClinVarVariant:53602 NM_000492.3(CFTR):c.2936A>C (p.Asp979Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1377 MGI:5638435 Slc12a5<tm2Hsav> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15813942 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1378 ClinVarVariant:53642 NM_000492.3(CFTR):c.305T>C (p.Leu102Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1379 ClinVarVariant:159980 NM_005445.3(SMC3):c.255A>G (p.Ser85=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1380 MGI:3709406 Tg(Camk2a-Bdnf)A9Stl NCBITaxon:10090 Mus musculus NCBIGene:24225 Bdnf MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:24768643 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1381 ClinVarVariant:91301 NM_000535.5(PMS2):c.137G>A (p.Ser46Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1382 ClinVarVariant:10097 NM_000132.3(F8):c.601+1632G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1383 ClinVarVariant:618 NM_000277.1(PAH):c.916A>G (p.Ile306Val) 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 |
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1384 ClinVarVariant:159950 NM_006306.3(SMC1A):c.2368C>T (p.Arg790Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1385 ClinVarVariant:53612 NM_000492.3(CFTR):c.2981T>G (p.Phe994Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1386 ClinVarVariant:10087 F8, EX26DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1387 ClinVarVariant:608 NM_000277.1(PAH):c.143T>C (p.Leu48Ser) 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 |
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1388 ClinVarVariant:92744 NM_000277.1(PAH):c.508C>G (p.His170Asp) 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 |
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1389 ClinVarVariant:53542 NM_000492.3(CFTR):c.2679G>T (p.Gly893=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1390 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 |
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1391 ClinVarVariant:159970 NM_005445.3(SMC3):c.1964G>A (p.Gly655Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1392 ClinVarVariant:53632 NM_000492.3(CFTR):c.302T>C (p.Leu101Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1393 ClinVarVariant:628 NM_000277.1(PAH):c.1139C>T (p.Thr380Met) 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 |
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1394 ClinVarVariant:159960 NM_006306.3(SMC1A):c.547C>T (p.Gln183Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1395 ClinVarVariant:92754 NM_000277.1(PAH):c.955G>T (p.Glu319Ter) 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 |
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1396 ClinVarVariant:53552 NM_000492.3(CFTR):c.2739T>A (p.Tyr913Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1397 ClinVarVariant:53522 NM_000492.3(CFTR):c.2601dupA (p.Val868Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1398 ClinVarVariant:92734 NM_000277.1(PAH):c.165T>G (p.Phe55Leu) 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 |
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1399 ClinVarVariant:53532 NM_000492.3(CFTR):c.263T>A (p.Leu88Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20495477|PMID:10361400|PMID:20171652|PMID:12796866|PMID:7866213 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1400 ClinVarVariant:588 NM_000277.1(PAH):c.727C>T (p.Arg243Ter) 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 |
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1401 ClinVarVariant:2414 NM_032409.2(PINK1):c.650C>A (p.Ala217Asp) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1402 ClinVarVariant:53572 NM_000492.3(CFTR):c.2815C>G (p.His939Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1403 ClinVarVariant:5095 CAPN10, IVS13, g.16378G-T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1404 ClinVarVariant:2404 NM_032409.2(PINK1):c.926G>A (p.Gly309Asp) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1405 ClinVarVariant:578 NM_000277.1(PAH):c.932T>C (p.Leu311Pro) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1406 ClinVarVariant:7220 NM_000492.3(CFTR):c.2291delG (p.Arg764Glnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1407 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 |
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1408 ClinVarVariant:53582 NM_000492.3(CFTR):c.2861A>C (p.His954Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1409 ClinVarVariant:7210 NM_000492.3(CFTR):c.3254A>G (p.His1085Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1410 ClinVarVariant:598 NM_000277.1(PAH):c.818C>T (p.Ser273Phe) 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 |
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1411 ClinVarVariant:53592 NM_000492.3(CFTR):c.2909-15T>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1412 ClinVarVariant:7230 NM_000492.3(CFTR):c.3492dupT (p.Lys1165Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1413 ClinVarVariant:7240 NM_000492.3(CFTR):c.1682C>A (p.Ala561Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1414 MGI:5549960 Atat1<tm1.2Phep> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23748901 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1415 ClinVarVariant:56252 NM_000086.2(CLN3):c.1247A>G (p.Asp416Gly) NCBITaxon:9606 Homo sapiens 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 |
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1416 ClinVarVariant:56262 NM_000086.2(CLN3):c.265C>T (p.Arg89Ter) NCBITaxon:9606 Homo sapiens 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 |
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1417 ClinVarVariant:18456 SDHB, 20.3-KB DEL, EX1 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1418 ClinVarVariant:56282 NM_000086.2(CLN3):c.565G>C (p.Gly189Arg) NCBITaxon:9606 Homo sapiens 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 |
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1419 MGI:1861932 Gt(ROSA)26Sor<tm1Sor> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:18832146 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1420 ClinVarVariant:35816 NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1421 MGI:3775204 S100a10<tm1Pggd> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:16400147 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1422 ClinVarVariant:7190 NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1423 ClinVarVariant:205110 NM_001042432.1(CLN3):c.472G>A (p.Ala158Thr) NCBITaxon:9606 Homo sapiens 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 |
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1424 MGI:2154522 App<tm1Cwe> MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:17634375|PMID:8001115 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1425 ClinVarVariant:14912 NM_002112.3(HDC):c.951G>A (p.Trp317Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8173824|PMID:1564054|PMID:8425124|PMID:23418216|PMID:20063404 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1426 ClinVarVariant:35846 NM_000492.3(CFTR):c.273+3A>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1427 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1428 ClinVarVariant:9972 FMR1, (CGG)n EXPANSION NCBITaxon:9606 Homo sapiens 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1429 ClinVarVariant:9597 m.3290T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1430 ClinVarVariant:39713 NM_018486.2(HDAC8):c.958G>A (p.Gly320Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1431 MGI:2179191 Tbx1<tm1Bem> RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:15084464|PMID:21908517|PMID:11239417|PMID:12413905 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1432 ClinVarVariant:35886 NM_000492.3(CFTR):c.4280T>C (p.Ile1427Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1433 ClinVarVariant:211658 NM_015384.4(NIPBL):c.6811dupT (p.Ser2271Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1434 ClinVarVariant:211638 NM_015384.4(NIPBL):c.4532_4533delCT (p.Ser1511Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1435 MGI:2653694 Tnf<tm1Sek> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11063830 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1436 MGI:3697454 Apba2<tm1Tsuz> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19420255 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1437 ClinVarVariant:211628 NM_133433.3(NIPBL):c.2521C>T (p.Arg841Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1438 ClinVarVariant:35836 NM_000492.3(CFTR):c.2012delT (p.Leu671Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1439 ClinVarVariant:35866 NM_000492.3(CFTR):c.3209G>A (p.Arg1070Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1440 MGI:2388099 Sstr2<tm1Rgs> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11029646 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1441 ClinVarVariant:211648 NM_015384.4(NIPBL):c.5679dupT (p.Arg1894Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1442 ClinVarVariant:53502 NM_000492.3(CFTR):c.2496C>A (p.Cys832Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1443 MGI:3610995 Gabbr2<tm1Bet> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15706241 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1444 ClinVarVariant:6914 SDHD, 96-KB DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1445 ClinVarVariant:53412 NM_000492.3(CFTR):c.1900C>T (p.Gln634Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1446 ClinVarVariant:1483 NM_000190.3(HMBS):c.849G>A (p.Trp283Ter) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1447 ClinVarVariant:53422 NM_000492.3(CFTR):c.1990G>T (p.Glu664Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1448 ClinVarVariant:53442 NM_000492.3(CFTR):c.2143C>T (p.Gln715Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1449 ClinVarVariant:42469 NM_000179.2(MSH6):c.3173-1G>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1450 ClinVarVariant:53452 NM_000492.3(CFTR):c.2203delA (p.Arg735Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1451 ClinVarVariant:53512 NM_000492.3(CFTR):c.2562delT (p.Val855Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1452 ClinVarVariant:53462 NM_000492.3(CFTR):c.2252G>C (p.Arg751Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1453 ClinVarVariant:10300 NM_000132.3(F8):c.5953C>T (p.Arg1985Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1454 ClinVarVariant:180192 NM_015384.4(NIPBL):c.65-3T>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1455 ClinVarVariant:53402 NM_000492.3(CFTR):c.1840G>T (p.Asp614Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1456 ClinVarVariant:1473 NM_000190.3(HMBS):c.755C>T (p.Ala252Val) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1457 ClinVarVariant:53432 NM_000492.3(CFTR):c.2051_2052delAA (p.Lys684Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1458 ClinVarVariant:9970 FMR1, 1-BP DEL, 373A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19429055|PMID:18297385|PMID:14994287|PMID:16176388|PMID:10972251 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1459 ClinVarVariant:1453 NM_000190.3(HMBS):c.593G>A (p.Trp198Ter) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1460 MGI:4418521 Psap<tm3.1Ggb> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20015957 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1461 ClinVarVariant:1463 HMBS, 2-BP DEL, 218AG 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1462 ClinVarVariant:48681 NM_000492.3(CFTR):c.1680-1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1463 MGI:3041582 Axtofd1<L2> HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:14990867 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1464 ClinVarVariant:53687 NM_000492.3(CFTR):c.3211C>T (p.Gln1071Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1465 ClinVarVariant:192221 NM_000251.2(MSH2):c.1223A>T (p.Tyr408Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1466 ClinVarVariant:53697 NM_000492.3(CFTR):c.3262A>G (p.Asn1088Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1467 MGI:2429688 Chl1<tm1Mtg> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:12391163 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1468 ClinVarVariant:159040 NM_015384.4(NIPBL):c.1753delA (p.Ile585Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1469 ClinVarVariant:102788 NM_000277.1(PAH):c.694C>T (p.Gln232Ter) 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 |
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1470 ClinVarVariant:4332 NM_001005741.2(GBA):c.1228C>G (p.Leu410Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1471 ClinVarVariant:53227 NM_000492.3(CFTR):c.131A>G (p.Asp44Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1472 ClinVarVariant:159080 NM_133433.3(NIPBL):c.3369A>C (p.Arg1123Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1473 ClinVarVariant:1458 NM_000190.3(HMBS):c.163G>T (p.Ala55Ser) 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 |
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1474 ClinVarVariant:51030 NM_000492.3(CFTR):c.-495C>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1475 ClinVarVariant:53427 NM_000492.3(CFTR):c.2017G>T (p.Gly673Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1476 ClinVarVariant:16151 NM_001018077.1(NR3C1):c.1676T>A (p.Ile559Asn) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1477 ClinVarVariant:7067 NM_007262.4(PARK7):c.192G>C (p.Glu64Asp) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1478 ClinVarVariant:53417 NM_000492.3(CFTR):c.1973_1985delGAAATTCAATCCTinsAGAAA (p.Arg658Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1479 ClinVarVariant:53437 NM_000492.3(CFTR):c.2083dupG (p.Glu695Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1480 MGI:2653138 Tlr3<tm1Flv> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20713712 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1481 ClinVarVariant:211141 NM_018486.2(HDAC8):c.229C>T (p.Gln77Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1482 ClinVarVariant:53217 NM_000492.3(CFTR):c.1210-1G>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1483 ClinVarVariant:4302 NM_001005741.2(GBA):c.84dupG (p.Leu29Alafs*18) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1484 ClinVarVariant:102758 NM_000277.1(PAH):c.612T>G (p.Tyr204Ter) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1485 ClinVarVariant:4312 NM_001005741.2(GBA):c.1263_1317del55 (p.Leu422Profs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1486 ClinVarVariant:53237 NM_000492.3(CFTR):c.1373delG (p.Gly458Aspfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1487 ClinVarVariant:53247 NM_000492.3(CFTR):c.1403T>C (p.Leu468Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1488 ClinVarVariant:1478 NM_000190.3(HMBS):c.647G>A (p.Gly216Asp) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1489 ClinVarVariant:13371 NM_001042465.1(PSAP):c.1297C>T (p.Gln433Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1490 ClinVarVariant:53447 NM_000492.3(CFTR):c.2168G>T (p.Gly723Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1491 ClinVarVariant:53257 NM_000492.3(CFTR):c.1450C>T (p.His484Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1492 MGI:3691577 Slc6a4<tm1(cre)Xz> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21814181 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1493 ClinVarVariant:53267 NM_000492.3(CFTR):c.1494G>C (p.Met498Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1494 ClinVarVariant:10105 F8, EX26DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1495 MGI:4459459 Slitrk5<tm2Vlcg> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20418887 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1496 ClinVarVariant:10145 NM_000132.3(F8):c.1336C>T (p.Arg446Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1497 ClinVarVariant:10115 NM_000132.3(F8):c.5096A>T (p.Tyr1699Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1498 ClinVarVariant:10135 F8, EX5DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1499 ClinVarVariant:53297 NM_000492.3(CFTR):c.1606A>T (p.Lys536Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1500 ClinVarVariant:10155 F8, 89-BP DEL, FS NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1501 ClinVarVariant:10175 NM_000132.3(F8):c.491G>T (p.Gly164Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1502 ClinVarVariant:68436 NM_001127221.1(CACNA1A):c.5083G>A (p.Val1695Ile) 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 |
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1503 ClinVarVariant:53780 NM_000492.3(CFTR):c.3617C>A (p.Ser1206Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1504 ClinVarVariant:53790 NM_000492.3(CFTR):c.3717+45G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1505 ClinVarVariant:53770 NM_000492.3(CFTR):c.3546C>G (p.Tyr1182Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1506 ClinVarVariant:155758 NP_000035.2:p.= NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17132758|PMID:17707426|PMID:21801726|PMID:18775430|PMID:1635303 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1507 ClinVarVariant:10195 NM_000132.3(F8):c.923C>T (p.Ser308Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1508 ClinVarVariant:53710 NM_000492.3(CFTR):c.3294delG (p.Trp1098Cysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1509 ClinVarVariant:135665 NM_000545.6(HNF1A):c.1522G>A (p.Glu508Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1510 ClinVarVariant:10165 NM_000132.3(F8):c.296T>A (p.Val99Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1511 ClinVarVariant:53730 NM_000492.3(CFTR):c.3389G>C (p.Gly1130Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1512 ClinVarVariant:53720 NM_000492.3(CFTR):c.332C>T (p.Pro111Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1513 dbSNP:rs7952106 rs7952106-G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:24058526|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1514 ClinVarVariant:102808 NM_000277.1(PAH):c.728G>T (p.Arg243Leu) 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 |
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1515 ClinVarVariant:10125 NM_000132.3(F8):c.1171C>T (p.Arg391Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1516 ClinVarVariant:53287 NM_000492.3(CFTR):c.1584+2T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1517 ClinVarVariant:53700 NM_000492.3(CFTR):c.326_327delAT (p.Tyr109Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1518 ClinVarVariant:10185 F8, GLY247GLN NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1519 MGI:2669970 Sept5<tm1Wtr> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19240081 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1520 ClinVarVariant:14707 NM_000208.2(INSR):c.3034G>A (p.Val1012Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1521 ClinVarVariant:2227 NM_000551.3(VHL):c.188T>C (p.Leu63Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1522 MGI:3573908 Aaj1<A/J> 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 |
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1523 ClinVarVariant:2237 NM_000551.3(VHL):c.277G>A (p.Gly93Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1524 ClinVarVariant:53750 NM_000492.3(CFTR):c.3468G>A (p.Leu1156=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1525 ClinVarVariant:53740 NM_000492.3(CFTR):c.3430C>T (p.Gln1144Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1526 ClinVarVariant:167132 NM_001005741.2(GBA):c.680_681delATinsGG (p.Asn227Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1527 ClinVarVariant:102821 NM_000277.1(PAH):c.745C>T (p.Leu249Phe) 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 |
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1528 MGI:5570192 Ckap5<tm1.1Eba> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23936366 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1529 ClinVarVariant:159185 NM_133433.3(NIPBL):c.6316G>C (p.Val2106Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1530 ClinVarVariant:159195 NM_133433.3(NIPBL):c.6478G>T (p.Asp2160Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1531 MGI:2387410 Htr1a<tm1Tct> 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 |
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1532 ClinVarVariant:1358 NM_170740.1(ALDH5A1):c.1273C>T (p.Arg425Ter) 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 |
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1533 ClinVarVariant:159175 NM_133433.3(NIPBL):c.611-10T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1534 MGI:1934210 Plaur<tm1Mlg> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:12533622 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1535 ClinVarVariant:53320 NM_000492.3(CFTR):c.1652delG (p.Gly551Valfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1536 ClinVarVariant:53330 NM_000492.3(CFTR):c.1678A>G (p.Arg560Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1537 MGI:4356167 Atp1a3<Myk> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22025725 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1538 ClinVarVariant:53340 NM_000492.3(CFTR):c.1682dupC (p.Val562Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1539 ClinVarVariant:53360 NM_000492.3(CFTR):c.1726G>T (p.Gly576Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1540 ClinVarVariant:16089 NM_001042.2(SLC2A4):c.1147G>A (p.Val383Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1541 ClinVarVariant:102538 NM_000277.1(PAH):c.1157A>G (p.Tyr386Cys) 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 |
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1542 MGI:2673210 Npepps<goku> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10407043 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1543 ClinVarVariant:12785 NM_003000.2(SDHB):c.136C>G (p.Arg46Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1544 ClinVarVariant:3936 NM_000520.4(HEXA):c.1176G>A (p.Trp392Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1545 MGI:4429408 Pitx3<eyl> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20033184 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1546 ClinVarVariant:102518 NM_000277.1(PAH):c.1089delG (p.Lys363Asnfs) 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 |
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1547 MGI:1857026 Foxq1<sa> 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 |
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1548 ClinVarVariant:38850 NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1549 ClinVarVariant:3926 HEXA, 2-BP DEL, CODON 310 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1550 ClinVarVariant:35844 NM_000492.3(CFTR):c.2620-15C>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1551 ClinVarVariant:102588 NM_000277.1(PAH):c.1315+2T>C 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 |
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1552 ClinVarVariant:211656 NM_015384.4(NIPBL):c.6707dupA (p.Asn2236Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1553 ClinVarVariant:211666 NM_133433.3(NIPBL):c.8296_8300delATTAAinsTT (p.Ile2766_Lys2767delinsLeu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1554 ClinVarVariant:35874 NM_000492.3(CFTR):c.3717+130_3717+131delAT NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1555 ClinVarVariant:211626 NM_015384.4(NIPBL):c.2394_2397dupTGAA (p.Ala800Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1556 ClinVarVariant:67771 NM_000335.4(SCN5A):c.2989G>A (p.Ala997Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1557 MGI:2385631 Tg(APPSWE)2576Kha NCBITaxon:10090 Mus musculus NCBIGene:351 APP RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:16236385|PMID:16260491|PMID:16236385 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct |
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1558 ClinVarVariant:39711 NM_018486.2(HDAC8):c.539A>G (p.His180Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1559 ClinVarVariant:35864 NM_000492.3(CFTR):c.3140-26A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1560 ClinVarVariant:108 NM_017849.3(TMEM127):c.475C>T (p.Gln159Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1561 ClinVarVariant:35834 NM_000492.3(CFTR):c.1911delG (p.Gln637Hisfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1562 ClinVarVariant:7853 NM_002500.4(NEUROD1):c.332G>T (p.Arg111Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1563 ClinVarVariant:35884 NM_000492.3(CFTR):c.4242+2T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1564 ClinVarVariant:211636 NM_133433.3(NIPBL):c.4495C>T (p.Gln1499Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1565 MGI:4438230 Tg(HTT*)1Xwy NCBITaxon:10090 Mus musculus NCBIGene:3064 huntingtin MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20064390 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1566 ClinVarVariant:35894 NM_000492.3(CFTR):c.958T>G (p.Leu320Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1567 ClinVarVariant:211646 NM_133433.3(NIPBL):c.5046_5047insTG (p.Asp1683Trpfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1568 ClinVarVariant:35854 NM_000492.3(CFTR):c.2909G>A (p.Gly970Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1569 ClinVarVariant:53177 NM_000492.3(CFTR):c.105dupA (p.Asp36Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1570 ClinVarVariant:120284 NM_000277.1(PAH):c.682G>A (p.Glu228Lys) 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 |
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1571 ClinVarVariant:40200 NM_000492.3(CFTR):c.1079C>A (p.Thr360Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1572 ClinVarVariant:54058 NM_000492.3(CFTR):c.794T>G (p.Met265Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1573 ClinVarVariant:102728 NM_000277.1(PAH):c.533A>T (p.Glu178Val) 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 |
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1574 ClinVarVariant:96339 NM_015384.4(NIPBL):c.3015A>G (p.Leu1005=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1575 ClinVarVariant:31176 NM_145239.2(PRRT2):c.487C>T (p.Gln163Ter) 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 |
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1576 ClinVarVariant:54098 NM_000492.3(CFTR):c.992T>A (p.Ile331Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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parents:
diff
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|
1577 ClinVarVariant:53690 NM_000492.3(CFTR):c.3230T>C (p.Leu1077Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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parents:
diff
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|
1578 ClinVarVariant:53670 NM_000492.3(CFTR):c.3177A>G (p.Leu1059=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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|
1579 ClinVarVariant:2147 NM_015384.4(NIPBL):c.3737C>G (p.Ala1246Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1580 ClinVarVariant:54088 NM_000492.3(CFTR):c.940G>C (p.Gly314Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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|
1581 ClinVarVariant:53680 NM_000492.3(CFTR):c.319_326delGCTTCCTA (p.Ala107Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1582 ClinVarVariant:53610 NM_000492.3(CFTR):c.296C>T (p.Pro99Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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|
1583 MGI:5575506 Tg(Prnp-SNAP25/HTT*150Q)8Xjl NCBITaxon:10090 Mus musculus NCBIGene:3064 huntingtin MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24081492 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1584 ClinVarVariant:35824 NM_000492.3(CFTR):c.14C>T (p.Pro5Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1585 DOID:8534 gastroesophageal reflux disease NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:16078586|PMID:19118263|PMID:22309285|PMID:15082612|PMID:22835729 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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1586 ClinVarVariant:12775 NG_012352.2:g.43542_48450del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1587 MGI:2671045 tmgc30 NCBITaxon:10090 Mus musculus MGI:2671045 tmgc30 HP:0000739 Anxiety ECO:0000006 experimental evidence MGI:2448159 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1588 MGI:4261988 Sppl3<Gt(OST279815)Lex> 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 |
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1589 ClinVarVariant:53157 NM_000492.3(CFTR):c.-4G>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1590 MGI:3765961 Eno2<tm1(DTA)Hsak> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23487260 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1591 ClinVarVariant:120264 NM_000277.1(PAH):c.1199+70G>A 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 |
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1592 MGI:2158808 Mas1<tm1Bdr> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:9565612 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1593 MGI:2178616 Crhr2<tm1Jsp> 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 |
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1594 ClinVarVariant:120274 NM_000277.1(PAH):c.350delC (p.Thr117Lysfs) 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 |
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1595 ClinVarVariant:41776 NM_003001.3(SDHC):c.43C>T (p.Arg15Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1596 ClinVarVariant:53167 NM_000492.3(CFTR):c.1021T>C (p.Ser341Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1597 ClinVarVariant:102851 NM_000277.1(PAH):c.820A>G (p.Lys274Glu) 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 |
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1598 ClinVarVariant:133314 NM_000277.1(PAH):c.781C>G (p.Arg261Gly) 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 |
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1599 ClinVarVariant:159145 NM_133433.3(NIPBL):c.5335C>T (p.Arg1779Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1600 ClinVarVariant:159135 NM_015384.4(NIPBL):c.5174delA (p.Lys1725Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1601 ClinVarVariant:35614 NM_001287174.1(ABCC8):c.4138C>A (p.Arg1380Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1602 ClinVarVariant:14700 NM_000208.2(INSR):c.3572G>A (p.Arg1191Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1603 ClinVarVariant:53350 NM_000492.3(CFTR):c.1704G>T (p.Leu568Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1604 ClinVarVariant:212267 NM_001281463.1(SMC1A):c.2303G>A (p.Arg768Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1605 ClinVarVariant:53290 NM_000492.3(CFTR):c.1585-2A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1606 MGI:3850987 Git1<tm1.2Rtp> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19383529 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1607 ClinVarVariant:53925 NM_000492.3(CFTR):c.4231C>T (p.Gln1411Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1608 ClinVarVariant:53280 NM_000492.3(CFTR):c.1538A>G (p.Asp513Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1609 ClinVarVariant:53955 NM_000492.3(CFTR):c.454A>G (p.Met152Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1610 ClinVarVariant:53945 NM_000492.3(CFTR):c.43delC (p.Leu15Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1611 ClinVarVariant:53300 NM_000492.3(CFTR):c.1631G>T (p.Gly544Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1612 ClinVarVariant:53310 NM_000492.3(CFTR):c.1642_1643delCT (p.Leu548Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1613 ClinVarVariant:53935 NM_000492.3(CFTR):c.4264C>T (p.Arg1422Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1614 ClinVarVariant:53270 NM_000492.3(CFTR):c.1501A>G (p.Thr501Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1615 ClinVarVariant:53250 NM_000492.3(CFTR):c.1408_1417delGTGATTATGG (p.Val470Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1616 ClinVarVariant:53905 NM_000492.3(CFTR):c.412_414dupCTA (p.Leu138_His139insLeu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1617 MGI:4410523 Tg(CMV-RNAi:Pqbp1)1Hiok NCBITaxon:10090 Mus musculus MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19661183 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1618 ClinVarVariant:53260 NM_000492.3(CFTR):c.1469_1470delTC (p.Phe490Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1619 MGI:3528558 Csmd1<tm1Lex> 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 |
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1620 MGI:2668659 Neurod6<tm1(cre)Kan> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21885734 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1621 ClinVarVariant:53915 NM_000492.3(CFTR):c.4196_4197delTC (p.Cys1400Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1622 ClinVarVariant:5408 CD209, -336A-G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12098612|PMID:3167473|PMID:22276472|PMID:2751944|PMID:2801829 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1623 ClinVarVariant:53240 NM_000492.3(CFTR):c.1392G>T (p.Lys464Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1624 ClinVarVariant:156502 NM_000251.2(MSH2):c.2363_2364delCT (p.Thr788Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1625 ClinVarVariant:53230 NM_000492.3(CFTR):c.1326_1329dupAGAT (p.Ile444Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1626 OMIM:141500 Migraine, Familial Hemiplegic, 1 NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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1627 ClinVarVariant:14794 NM_000875.4(IGF1R):c.1532G>A (p.Arg511Gln) NCBITaxon:9606 Homo sapiens 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 |
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1628 ClinVarVariant:38497 NM_000492.3(CFTR):c.2657+5G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1629 ClinVarVariant:53510 NM_000492.3(CFTR):c.254G>T (p.Gly85Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1630 ClinVarVariant:53500 NM_000492.3(CFTR):c.2491-2A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1631 MGI:5485241 Prkcz<tm1.1Msg> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23283171 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1632 ClinVarVariant:3553 CLN3, 3-KB DEL, NT928 NCBITaxon:9606 Homo sapiens 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 |
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1633 ClinVarVariant:53397 NM_000492.3(CFTR):c.1823A>G (p.Glu608Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1634 ClinVarVariant:10235 NM_000132.3(F8):c.1814A>C (p.Tyr605Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1635 ClinVarVariant:6899 NM_003002.3(SDHD):c.337_338insT (p.Asp113Valfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1636 dbSNP:rs82625 rs82625-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:7554686|PMID:23510063|PMID:20635362|PMID:9333269|PMID:22388998|PMID:12581195 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1637 ClinVarVariant:6909 NM_003002.3(SDHD):c.149A>G (p.His50Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1638 ClinVarVariant:180197 NM_006306.3(SMC1A):c.802_804delAAG (p.Lys268del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1639 ClinVarVariant:53407 NM_000492.3(CFTR):c.1860T>G (p.His620Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1640 ClinVarVariant:159090 NM_133433.3(NIPBL):c.358+5G>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1641 ClinVarVariant:1468 HMBS, 2-BP DEL, 730CT 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 |
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1642 ClinVarVariant:189027 NM_000492.3(CFTR):c.-461A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1643 ClinVarVariant:53460 NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1644 ClinVarVariant:10255 F8, 2-BP, INS, FS NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1645 ClinVarVariant:10245 NM_000132.3(F8):c.2149C>T (p.Arg717Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1646 ClinVarVariant:89151 NM_000179.2(MSH6):c.*24_*28delGTTGA NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1647 ClinVarVariant:10265 F8, GLU161TER NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1648 MGI:3653429 Htr2a<tm1Grch> 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 |
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1649 MGI:4819832 Tg(tetO-MAPT*P301L)#Kha NCBITaxon:10090 Mus musculus NCBIGene:4137 microtubule associated protein tau HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:24503275 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1650 ClinVarVariant:188516 NM_000251.2(MSH2):c.1984C>T (p.Gln662Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1651 MGI:2178057 Gria1<tm1Rsp> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20699120 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1652 ClinVarVariant:10215 NM_000132.3(F8):c.1418A>G (p.Tyr473Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1653 MGI:2179062 Tg(Camk2a-tTA)1Mmay NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:24503275 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1654 ClinVarVariant:53387 NM_000492.3(CFTR):c.1792A>T (p.Lys598Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1655 ClinVarVariant:10225 NM_000132.3(F8):c.1649G>A (p.Arg550His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1656 ClinVarVariant:29929 NM_006306.3(SMC1A):c.2351T>C (p.Ile784Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1657 ClinVarVariant:53820 NM_000492.3(CFTR):c.3844T>C (p.Trp1282Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1658 ClinVarVariant:53830 NM_000492.3(CFTR):c.3874-14C>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1659 MGI:1929607 Erbb4<tm1Grl> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22378872 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1660 MGI:2384087 Fshr<tm1Saco> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:14502087 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1661 ClinVarVariant:1448 NM_000190.3(HMBS):c.463C>T (p.Gln155Ter) 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 |
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1662 ClinVarVariant:159070 NM_015384.4(NIPBL):c.3060_3063delAGAG (p.Glu1021Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1663 ClinVarVariant:66102 NM_000492.3(CFTR):c.2453delT (p.Leu818Trpfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1664 ClinVarVariant:12909 NM_152296.4(ATP1A3):c.1838C>T (p.Thr613Met) 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 |
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1665 ClinVarVariant:159060 NM_133433.3(NIPBL):c.2505G>T (p.Gly835=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1666 ClinVarVariant:53860 NM_000492.3(CFTR):c.3953T>C (p.Val1318Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1667 ClinVarVariant:9240 PMS2, 1-BP DEL, 1021A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1668 ClinVarVariant:53850 NM_000492.3(CFTR):c.3915T>A (p.Asp1305Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1669 MGI:3665437 Fabp7<tm1Owad> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16882015 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1670 ClinVarVariant:10275 NM_000132.3(F8):c.5398C>T (p.Arg1800Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:9302853|PMID:10734657|PMID:15357786 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1671 ClinVarVariant:53800 NM_000492.3(CFTR):c.3739G>C (p.Gly1247Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1672 ClinVarVariant:10285 F8, IVS16DS, G-A, -1 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1673 ClinVarVariant:205095 NM_001042432.1(CLN3):c.988G>A (p.Val330Ile) NCBITaxon:9606 Homo sapiens 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 |
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1674 MGI:1857159 Drd3<tm1Dac> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:10884517 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1675 ClinVarVariant:159050 NM_133433.3(NIPBL):c.2260C>T (p.Arg754Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1676 ClinVarVariant:126967 NM_017849.3(TMEM127):c.280C>T (p.Arg94Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1677 ClinVarVariant:53880 NM_000492.3(CFTR):c.4045G>A (p.Gly1349Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1678 MGI:3057129 Tg(MAPT)8cPdav NCBITaxon:10090 Mus musculus NCBIGene:4137 microtubule associated protein tau MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24278307 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1679 ClinVarVariant:53480 NM_000492.3(CFTR):c.2353C>T (p.Arg785Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1680 ClinVarVariant:3906 NM_000520.4(HEXA):c.1510C>T (p.Arg504Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1681 ClinVarVariant:53490 NM_000492.3(CFTR):c.2440C>T (p.Gln814Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1682 ClinVarVariant:53450 NM_000492.3(CFTR):c.2188G>T (p.Glu730Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1683 ClinVarVariant:36685 NM_000535.5(PMS2):c.1408C>T (p.Pro470Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1684 ClinVarVariant:53430 NM_000492.3(CFTR):c.2045dupC (p.Gln685Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1685 ClinVarVariant:53440 NM_000492.3(CFTR):c.2125C>T (p.Arg709Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1686 MGI:2182943 Efna2<tm1Jgf> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:25281279 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1687 ClinVarVariant:10663 F9, 17747G-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1688 MGI:3580575 Nsila9<A/J> 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 |
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1689 ClinVarVariant:188954 NM_000520.4(HEXA):c.1528C>T (p.Arg510Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1690 MGI:5634956 Fosb<tm1.1Yun> 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 |
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1691 ClinVarVariant:159225 NM_133433.3(NIPBL):c.7264-6T>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1692 ClinVarVariant:216939 NM_018486.2(HDAC8):c.1006-2A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1693 ClinVarVariant:3896 NM_000520.4(HEXA):c.533G>A (p.Arg178His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1694 ClinVarVariant:159245 NM_133433.3(NIPBL):c.8300_8301delAA (p.Lys2767Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1695 ClinVarVariant:4689 VPS13A, 37-KB DEL 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 |
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1696 ClinVarVariant:159235 NM_133433.3(NIPBL):c.771+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1697 MGI:4417910 Tg(Thy1-PSEN1*M146V,-APP*Swe)10Arte NCBITaxon:10090 Mus musculus NCBIGene:351 APP MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19936202 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1698 ClinVarVariant:38730 NM_000492.3(CFTR):c.178G>T (p.Glu60Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1699 ClinVarVariant:183388 NC_000023.9:g.146703942_146820448del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19429055|PMID:18297385|PMID:14994287|PMID:16176388|PMID:10972251 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1700 ClinVarVariant:183422 NM_017831.3(RNF125):c.520C>T (p.Arg174Cys) 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 |
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1701 ClinVarVariant:159205 NM_133433.3(NIPBL):c.6646T>C (p.Tyr2216His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1702 ClinVarVariant:38480 NM_000492.3(CFTR):c.3067_3072delATAGTG (p.Ile1023_Val1024del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1703 ClinVarVariant:10633 F9, EX2-8DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1704 ClinVarVariant:53795 NM_000492.3(CFTR):c.3719T>G (p.Val1240Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1705 ClinVarVariant:10643 NM_000133.3(F9):c.328G>A (p.Asp110Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1706 ClinVarVariant:53390 NM_000492.3(CFTR):c.1798A>G (p.Arg600Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1707 ClinVarVariant:5558 NM_001040108.1(MLH3):c.70C>G (p.Gln24Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1708 ClinVarVariant:6892 NM_003002.3(SDHD):c.106C>T (p.Gln36Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1709 MGI:2136456 Penk-rs<tm1Pig> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:8849726 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1710 MGI:2182005 Pten<tm2Mak> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16675393 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1711 ClinVarVariant:53410 NM_000492.3(CFTR):c.1897C>A (p.Leu633Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1712 ClinVarVariant:6912 NM_003002.3(SDHD):c.337_340delGACT (p.Asp113Metfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1713 ClinVarVariant:1471 NM_000190.3(HMBS):c.748G>A (p.Glu250Lys) 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 |
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1714 ClinVarVariant:16159 NM_000160.4(GCGR):c.118G>A (p.Gly40Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1715 ClinVarVariant:126970 NM_017849.3(TMEM127):c.418T>C (p.Cys140Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1716 ClinVarVariant:11568 NM_002578.3(PAK3):c.1255C>T (p.Arg419Ter) NCBITaxon:9606 Homo sapiens HP:0000739 Anxiety ECO:0000269 experimental evidence used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1717 ClinVarVariant:53370 NM_000492.3(CFTR):c.1745C>G (p.Thr582Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1718 ClinVarVariant:93446 NM_001005741.2(GBA):c.1171G>C (p.Val391Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1719 ClinVarVariant:159215 NM_133433.3(NIPBL):c.6993A>G (p.Glu2331=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1720 ClinVarVariant:102438 TTC19, TRP186TER 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 |
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1721 ClinVarVariant:159165 NM_133433.3(NIPBL):c.5944A>C (p.Ile1982Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1722 ClinVarVariant:67531 NM_000238.3(KCNH2):c.818G>A (p.Arg273Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1723 MGI:2387013 Oprd1<tm1Kff> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10835636 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1724 ClinVarVariant:209048 NM_000492.3(CFTR):c.(2988+1_2989-1)_(3468+1_3469-1)del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1725 ClinVarVariant:159105 NM_133433.3(NIPBL):c.4088-2A>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1726 ClinVarVariant:53975 NM_000492.3(CFTR):c.490-2A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1727 ClinVarVariant:159115 NM_133433.3(NIPBL):c.4421G>C (p.Arg1474Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1728 ClinVarVariant:209058 NM_000492.3(CFTR):c.(3468+1_3469-1)_(3717+1_3718-1)del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1729 ClinVarVariant:53995 NM_000492.3(CFTR):c.54-13C>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1730 ClinVarVariant:53985 NM_000492.3(CFTR):c.518_522delATAAA (p.Ile175Tyrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1731 ClinVarVariant:1451 HMBS, 1-BP DEL, 900T 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 |
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1732 ClinVarVariant:12912 NM_152296.4(ATP1A3):c.2273T>G (p.Ile758Ser) 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 |
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1733 ClinVarVariant:188186 NM_000249.3(MLH1):c.1853A>T (p.Lys618Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1734 ClinVarVariant:1461 HMBS, IVS5DS, G-A, +1 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 |
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1735 ClinVarVariant:180190 NM_015384.4(NIPBL):c.2147_2148delAA (p.Lys717Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1736 ClinVarVariant:53400 NM_000492.3(CFTR):c.1829T>C (p.Leu610Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1737 ClinVarVariant:6902 NM_003002.3(SDHD):c.443delG (p.Gly148Alafs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1738 MGI:3604527 Cacna1c<tm1Dgen> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence MGI:3604450 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1739 MGI:3844445 Tg(Thy1-Nlgn2)6Hnes NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:18550748 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1740 MGI:1857234 Oxt<tm1Wsy> HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:12746288 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1741 ClinVarVariant:90903 NM_000251.2(MSH2):c.2131C>T (p.Arg711Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1742 ClinVarVariant:53640 NM_000492.3(CFTR):c.3047T>C (p.Phe1016Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1743 ClinVarVariant:54048 NM_000492.3(CFTR):c.72G>C (p.Leu24Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1744 ClinVarVariant:11838 MECP2, DUP 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 |
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1745 ClinVarVariant:636 NM_000277.1(PAH):c.194T>C (p.Ile65Thr) 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 |
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1746 ClinVarVariant:189180 NM_000520.4(HEXA):c.570+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1747 MGI:5644306 Baiap3<tm1Smwk> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23698091 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1748 MGI:3526160 Rai1<tm1Jrl> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17517686 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1749 ClinVarVariant:8929 MSH6, 1-BP DEL, LEU222TER NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1750 ClinVarVariant:17093 MLH1, -42, C-T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1751 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 |
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1752 ClinVarVariant:17103 MLH1, EPIGENETICALLY SILENCED INHERITED NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1753 ClinVarVariant:99933 NM_015384.4(NIPBL):c.5456G>A (p.Arg1819Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1754 MGI:2449922 Fev<tm1Esd> MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:12546819|PMID:20818386 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1755 ClinVarVariant:99943 NM_015384.4(NIPBL):c.7806dupT (p.Asn2603Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1756 MGI:3043746 Igf2bp1<Gt(OST33739)Lex> 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 |
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1757 MGI:3027491 Htr4<tm1Comp> 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 |
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1758 MGI:3665323 Grm2<tm1Ddsc> HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:15619115 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1759 ClinVarVariant:30606 NM_000520.4(HEXA):c.173G>A (p.Cys58Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1760 MGI:4462822 Del(7Slx1b-Sept1)4Aam NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:25698753 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1761 ClinVarVariant:53745 NM_000492.3(CFTR):c.3444C>A (p.Asn1148Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1762 ClinVarVariant:10603 NM_000133.3(F9):c.892C>T (p.Arg298Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1763 ClinVarVariant:29762 NM_005544.2(IRS1):c.1823C>G (p.Thr608Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1764 ClinVarVariant:53715 NM_000492.3(CFTR):c.3310G>T (p.Glu1104Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1765 ClinVarVariant:53705 NM_000492.3(CFTR):c.328G>T (p.Asp110Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1766 ClinVarVariant:13403 NM_000311.3(PRNP):c.628G>A (p.Val210Ile) NCBITaxon:9606 Homo sapiens 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 |
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1767 ClinVarVariant:10613 NM_000133.3(F9):c.1136G>A (p.Arg379Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1768 ClinVarVariant:53775 NM_000492.3(CFTR):c.3592delG (p.Val1198Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1769 ClinVarVariant:53785 NM_000492.3(CFTR):c.3634G>A (p.Val1212Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1770 ClinVarVariant:53725 NM_000492.3(CFTR):c.3367+6A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1771 ClinVarVariant:161998 NM_000492.3(CFTR):c.1117G>A (p.Asp373Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1772 ClinVarVariant:53735 NM_000492.3(CFTR):c.3410T>G (p.Met1137Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1773 MGI:5288003 Dcdc2a<tm1.2Jjlo> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21883923 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1774 ClinVarVariant:2140 NM_015384.4(NIPBL):c.7289A>G (p.Tyr2430Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1775 MGI:4359176 Arx<tm3Kki> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19605412 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1776 ClinVarVariant:54051 NM_000492.3(CFTR):c.743+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1777 MGI:4443014 Bdnf<tm1Yab> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20130183 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1778 ClinVarVariant:159065 NM_133433.3(NIPBL):c.2832T>A (p.Tyr944Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1779 ClinVarVariant:11674 SMC1A, 15-BP DEL, NT173 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1780 ClinVarVariant:159075 NM_133433.3(NIPBL):c.3122-2A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1781 ClinVarVariant:54071 NM_000492.3(CFTR):c.861C>G (p.Asn287Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1782 ClinVarVariant:159045 NM_133433.3(NIPBL):c.206T>C (p.Leu69Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1783 ClinVarVariant:54041 NM_000492.3(CFTR):c.695T>A (p.Val232Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1784 MGI:3629666 Slc6a4<tm1Grch> HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:14625138 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1785 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 |
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1786 ClinVarVariant:54091 NM_000492.3:c.948 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1787 ClinVarVariant:159095 NM_133433.3(NIPBL):c.3818T>G (p.Ile1273Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1788 dbSNP:rs12559632 rs12559632-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21326311|PMID:17938043|PMID:9491171|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1789 ClinVarVariant:16156 NM_001018077.1(NR3C1):c.1430G>A (p.Arg477His) 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 |
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1790 ClinVarVariant:54081 NM_000492.3(CFTR):c.88C>T (p.Gln30Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1791 ClinVarVariant:159085 NM_133433.3(NIPBL):c.3503-9T>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1792 ClinVarVariant:53210 NM_000492.3(CFTR):c.1196C>A (p.Ala399Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1793 ClinVarVariant:53220 NM_000492.3(CFTR):c.1234delG (p.Ala412Glnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1794 MGI:4442999 Camk4<tm1Tsmi> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20209163 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1795 ClinVarVariant:161134 NM_152296.4(ATP1A3):c.2267G>A (p.Arg756His) 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 |
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1796 MGI:5445923 Dnajc5g<tm1.1(KOMP)Vlcg> MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059|ECO:0000059 experimental evidence|experimental phenotypic evidence|experimental phenotypic evidence MGI:5576271 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/impc.ttl inferred |
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1797 ClinVarVariant:161154 NM_152296.4(ATP1A3):c.3038_3040dupACT (p.Tyr1013_Ter1014insTyr) 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 |
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1798 MGI:5427678 Mc2r<tm1Dgen> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence MGI:2655403 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1799 ClinVarVariant:96352 NM_015384.4(NIPBL):c.7219C>T (p.Arg2407Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1800 ClinVarVariant:102751 NM_000277.1(PAH):c.60+5G>T 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 |
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1801 ClinVarVariant:102671 NM_000277.1(PAH):c.441+1G>A 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 |
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1802 ClinVarVariant:99923 NM_015384.4(NIPBL):c.192delG (p.Gln64Hisfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1803 ClinVarVariant:35859 NM_000492.3(CFTR):c.3038C>A (p.Pro1013His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1804 MGI:3821974 Snap25<tm1.1Bark> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19043548 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1805 MGI:5317543 Gpr26<tm1Zgwg> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21924326 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1806 ClinVarVariant:142516 NM_000251.2(MSH2):c.965G>T (p.Gly322Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1807 ClinVarVariant:35869 NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1808 ClinVarVariant:35879 NM_000492.3(CFTR):c.3957_3958insAGGG (p.Asp1320Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1809 ClinVarVariant:35892 NM_000492.3(CFTR):c.853A>T (p.Ile285Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1810 ClinVarVariant:211644 NM_015384.4(NIPBL):c.4988_4991dupCTGA (p.Glu1664Aspfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1811 ClinVarVariant:156327 NM_000492.3(CFTR):c.164+2T>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20495477|PMID:10361400|PMID:20171652|PMID:12796866|PMID:7866213 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1812 MGI:2386951 Tg(HDexon1)62Gpb NCBITaxon:10090 Mus musculus NCBIGene:3064 huntingtin MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:19464370|PMID:19464370 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1813 MGI:3814564 Tg(MT1A-Dyrk1a)#Xest NCBITaxon:10090 Mus musculus NCBIGene:25255 Dyrk1a MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:11555628 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1814 ClinVarVariant:35882 NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1815 ClinVarVariant:211634 NM_133433.3(NIPBL):c.4320+2dup NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1816 ClinVarVariant:35872 NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1817 ClinVarVariant:211624 NM_015384.4(NIPBL):c.1992dupC (p.Glu665Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1818 ClinVarVariant:102596 NM_000277.1(PAH):c.1355dupA (p.Ter453Valfs) 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 |
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1819 ClinVarVariant:35862 NM_000492.3(CFTR):c.3139+18C>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1820 ClinVarVariant:35459 NM_006265.2(RAD21):c.1127C>G (p.Pro376Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1821 ClinVarVariant:29657 NM_000249.3(MLH1):c.1865T>A (p.Leu622His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1822 ClinVarVariant:92750 NM_000277.1(PAH):c.890G>A (p.Arg297His) 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 |
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1823 ClinVarVariant:89534 NM_000179.2(MSH6):c.467C>G (p.Ser156Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1824 ClinVarVariant:10628 NM_000133.3(F9):c.1357T>C (p.Trp453Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1825 ClinVarVariant:188929 NM_000520.4(HEXA):c.986+3A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1826 ClinVarVariant:10618 NM_000133.3(F9):c.1088G>T (p.Gly363Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1827 ClinVarVariant:10648 F9, IVS4, 4442-BP DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1828 ClinVarVariant:8762 NM_000609.6(CXCL12):c.266+535G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12098612|PMID:3167473|PMID:22276472|PMID:2751944|PMID:2801829 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1829 ClinVarVariant:14792 NM_000875.4(IGF1R):c.265C>T (p.Arg89Ter) NCBITaxon:9606 Homo sapiens 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 |
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1830 MGI:3762618 Grn<tm1Mni> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17764761 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1831 MGI:1857392 Crh<tm1Maj> HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:22231481 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1832 ClinVarVariant:10638 F9, 1-BP DEL, ASP85FS NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1833 ClinVarVariant:92730 NM_000277.1(PAH):c.1200-1G>A 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 |
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1834 ClinVarVariant:10658 NM_000133.3(F9):c.1256T>A (p.Val419Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1835 ClinVarVariant:10608 NM_000133.3(F9):c.1058T>C (p.Val353Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1836 ClinVarVariant:102626 NM_000277.1(PAH):c.1A>T (p.Met1Leu) 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 |
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1837 ClinVarVariant:99928 NM_015384.4(NIPBL):c.4285_4294delGAACTACAGT (p.Glu1429Cysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1838 MGI:2679626 Cplx2<tm1Rmnd> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20412316 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1839 ClinVarVariant:594 NM_000277.1(PAH):c.442-1G>A 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 |
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1840 MGI:3604494 Gpr19<tm1Dgen> 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 |
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1841 ClinVarVariant:2410 PINK1, 3-BP INS, 1602CAA 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 |
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1842 ClinVarVariant:31074 NM_017775.3(TTC19):c.517C>T (p.Gln173Ter) 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 |
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1843 dbSNP:rs6545816 rs6545816-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21326311|PMID:17938043|PMID:9491171|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1844 ClinVarVariant:53155 NM_000492.3(CFTR):c.*2G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1845 ClinVarVariant:102696 NM_000277.1(PAH):c.47_48delCT (p.Ser16Terfs) 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 |
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1846 MGI:2176368 Pdyn<tm1Ute> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:12843270 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1847 MGI:3625122 Ids<tm1Muen> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16505002 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1848 MGI:5496922 Slc18a2<tm1.1Bgir> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21814181 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1849 ClinVarVariant:54006 NM_000492.3(CFTR):c.577G>A (p.Glu193Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1850 MGI:4442238 Chd6<tm1.2Fier> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20111866 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1851 MGI:1856628 Dtnbp1<sdy> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:25677649 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1852 dbSNP:rs11886868 rs11886868-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21326311|PMID:17938043|PMID:9491171|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1853 ClinVarVariant:5778 SGCE, 6,872-BP DEL, EX6DEL 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 |
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1854 ClinVarVariant:120292 NM_000277.1(PAH):c.912+2T>C 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 |
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1855 ClinVarVariant:53185 NM_000492.3(CFTR):c.1086T>A (p.Tyr362Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1856 ClinVarVariant:120272 NM_000277.1(PAH):c.284_285delTCinsCA (p.Ile95Thr) 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 |
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1857 ClinVarVariant:53175 NM_000492.3(CFTR):c.1057C>T (p.Gln353Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1858 ClinVarVariant:5768 NM_003919.2(SGCE):c.289C>T (p.Arg97Ter) 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 |
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1859 ClinVarVariant:604 NM_000277.1(PAH):c.284_286delTCA (p.Ile95del) 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 |
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1860 ClinVarVariant:54016 NM_000492.3(CFTR):c.581G>T (p.Gly194Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1861 ClinVarVariant:54096 NM_000492.3(CFTR):c.980delT (p.Leu327Glnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1862 ClinVarVariant:31174 NM_145239.2(PRRT2):c.718C>T (p.Arg240Ter) 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 |
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1863 ClinVarVariant:54086 NM_000492.3(CFTR):c.926C>G (p.Ala309Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1864 ClinVarVariant:10985 NM_005710.2(PQBP1):c.194A>G (p.Tyr65Cys) 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 |
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1865 ClinVarVariant:54076 NM_000492.3(CFTR):c.870-3T>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1866 ClinVarVariant:9695 m.14319T>C 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 |
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1867 ClinVarVariant:54066 NM_000492.3(CFTR):c.836_838delAAG (p.Glu279del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1868 ClinVarVariant:54036 NM_000492.3(CFTR):c.658C>T (p.Gln220Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1869 ClinVarVariant:54026 NM_000492.3(CFTR):c.613C>T (p.Pro205Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1870 ClinVarVariant:10093 F8, EX22DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1871 MGI:2384136 Ucn<tm1Klee> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:12091910 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1872 ClinVarVariant:53530 NM_000492.3(CFTR):c.2620-6T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1873 ClinVarVariant:53550 NM_000492.3(CFTR):c.2735C>A (p.Ser912Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20495477|PMID:10361400|PMID:20171652|PMID:12796866|PMID:7866213 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1874 ClinVarVariant:92752 NM_000277.1(PAH):c.912+1G>A 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 |
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1875 MGI:5646427 Tmr10 NCBITaxon:10090 Mus musculus MGI:5646427 Tmr10 MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1876 ClinVarVariant:18454 NM_003000.2(SDHB):c.418G>T (p.Val140Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1877 ClinVarVariant:41001 NM_000132.3(F8):c.6769A>G (p.Met2257Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1878 ClinVarVariant:13906 NM_020975.4(RET):c.1900T>C (p.Cys634Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19569019|PMID:1576030|PMID:17474956|PMID:14605591|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1879 ClinVarVariant:53337 NM_000492.3(CFTR):c.1680-26T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1880 ClinVarVariant:178847 NM_000492.3(CFTR):c.1210-7_1210-6delTT NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1881 ClinVarVariant:127798 NM_000535.5(PMS2):c.857A>G (p.Asp286Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1882 ClinVarVariant:596 NM_000277.1(PAH):c.814G>T (p.Gly272Ter) 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 |
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1883 ClinVarVariant:2412 NM_005216.4(DDOST):c.*807_*5409del 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 |
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1884 ClinVarVariant:5093 NM_023083.3(CAPN10):c.471-176G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1885 ClinVarVariant:53570 NM_000492.3(CFTR):c.2799A>T (p.Arg933Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1886 ClinVarVariant:576 NM_000277.1(PAH):c.1315+1G>A 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 |
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1887 ClinVarVariant:53580 NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1888 ClinVarVariant:53560 NM_000492.3(CFTR):c.2756A>G (p.Tyr919Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1889 ClinVarVariant:3331 NM_005458.7(GABBR2):c.460-23G= NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7559318|PMID:15289208|PMID:1845224|PMID:2209418|PMID:20639284 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1890 ClinVarVariant:53357 NM_000492.3(CFTR):c.1713_1714delAG (p.Asp572Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1891 MGI:3692441 Grin1<tm1Yql> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:19915563 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1892 ClinVarVariant:53367 NM_000492.3(CFTR):c.1740dupT (p.Leu581Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1893 ClinVarVariant:10205 NM_000132.3(F8):c.1175C>T (p.Ser392Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1894 ClinVarVariant:13936 NM_020975.4(RET):c.2372A>T (p.Tyr791Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1895 ClinVarVariant:53540 NM_000492.3(CFTR):c.2669A>G (p.Gln890Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1896 ClinVarVariant:92742 NM_000277.1(PAH):c.441+5G>T 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 |
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1897 ClinVarVariant:53327 NM_000492.3(CFTR):c.1674delA (p.Ala559Glnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1898 ClinVarVariant:10651 NM_000133.3(F9):c.1228G>C (p.Asp410His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1899 ClinVarVariant:53733 NM_000492.3(CFTR):c.3409A>G (p.Met1137Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1900 ClinVarVariant:17101 MLH1, EX18DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1901 MGI:3827095 Scn8a<Clth> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19737145 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1902 ClinVarVariant:10611 NM_000133.3(F9):c.1069G>A (p.Gly357Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1903 ClinVarVariant:53773 NM_000492.3(CFTR):c.3584A>C (p.Asn1195Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1904 ClinVarVariant:140609 NM_001198938.1(DTNA):c.1963G>T (p.Val655Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:11486588|PMID:19828125|PMID:16374063|PMID:9792487|PMID:11349790 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1905 ClinVarVariant:53753 NM_000492.3(CFTR):c.3469_3717del249 (p.Met1157_Arg1239del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1906 ClinVarVariant:13411 NM_000311.3(PRNP):c.623G>A (p.Arg208His) NCBITaxon:9606 Homo sapiens 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 |
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1907 ClinVarVariant:53763 NM_000492.3(CFTR):c.3503A>G (p.Asp1168Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1908 ClinVarVariant:10601 NM_000133.3(F9):c.697G>A (p.Ala233Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1909 MGI:2384535 Cckbr<tm1Tom> 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 |
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1910 ClinVarVariant:53793 NM_000492.3(CFTR):c.3718-3T>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1911 ClinVarVariant:10631 F9, EX1DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1912 ClinVarVariant:90148 NM_000249.3(MLH1):c.306+5G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1913 ClinVarVariant:10621 F9, PHE378LEU NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1914 ClinVarVariant:53783 NM_000492.3(CFTR):c.3623delG (p.Gly1208Alafs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1915 ClinVarVariant:99921 NM_015384.4(NIPBL):c.1445_1448delGAGA (p.Arg482Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1916 MGI:4837197 Fev<tm2Esd> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20818386 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1917 ClinVarVariant:12670 NM_002734.4(PRKAR1A):c.-7+1G>A 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 |
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1918 ClinVarVariant:10258 NM_000132.3(F8):c.4293_4297delCTCTT (p.His1434Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1919 MGI:4867464 Nlgn3<tm1.1Htz> MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:19360662|PMID:19360662 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1920 ClinVarVariant:53803 NM_000492.3(CFTR):c.3754A>C (p.Thr1252Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1921 ClinVarVariant:10288 NM_000132.3(F8):c.5600A>G (p.His1867Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1922 ClinVarVariant:10278 NM_000132.3(F8):c.5422C>T (p.Leu1808Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1923 ClinVarVariant:53833 NM_000492.3(CFTR):c.3874-4A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1924 MGI:3578225 Gsk3a<tm1Dral> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20357757 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1925 ClinVarVariant:53823 NM_000492.3(CFTR):c.3854C>T (p.Ala1285Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1926 ClinVarVariant:3556 NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) NCBITaxon:9606 Homo sapiens 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 |
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1927 MGI:2388370 Tnc<tm1Msch> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16553788 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1928 ClinVarVariant:10238 F8, IVS12DS, G-A, +5 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1929 ClinVarVariant:10228 NM_000132.3(F8):c.1726G>T (p.Glu576Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1930 ClinVarVariant:10248 NM_000132.3(F8):c.2383A>T (p.Arg795Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1931 ClinVarVariant:53743 NM_000492.3(CFTR):c.343_345delGAG (p.Glu116del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1932 ClinVarVariant:53853 NM_000492.3(CFTR):c.3921T>A (p.Tyr1307Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1933 ClinVarVariant:53843 NM_000492.3(CFTR):c.3891dupT (p.Gly1298Trpfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1934 ClinVarVariant:9213 NM_000457.4(HNF4A):c.1204G>A (p.Val402Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1935 MGI:2182936 Slc18a2<tm2Kmo> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19553450 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1936 ClinVarVariant:10298 NM_000132.3(F8):c.5936G>T (p.Gly1979Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1937 MGI:2686971 Anxty<NZB> 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 |
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1938 ClinVarVariant:53813 NM_000492.3(CFTR):c.3780_3782delACT (p.Leu1261del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1939 MGI:3577248 Dp(11Cops3-Rnf112)1Jrl NCBITaxon:10090 Mus musculus HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:14709593 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1940 ClinVarVariant:10218 F8, 11-BP DEL, FS NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1941 ClinVarVariant:10208 NM_000132.3(F8):c.1214T>G (p.Ile405Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1942 MGI:1861799 C3<tm1Crr> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:26400934 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1943 ClinVarVariant:91039 NM_000251.2(MSH2):c.2732T>G (p.Leu911Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1944 ClinVarVariant:13919 NM_020975.4(RET):c.2753T>C (p.Met918Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1945 MGI:3589233 tmgc58 NCBITaxon:10090 Mus musculus MGI:3589233 tmgc58 MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence MGI:3053008|PMID:17629744 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1946 ClinVarVariant:13364 NM_001042465.1(PSAP):c.1154G>T (p.Cys385Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1947 dbSNP:rs9268905 rs9268905-C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:21602797|PMID:10361400 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1948 dbSNP:rs10195871 rs10195871-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21326311|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1949 ClinVarVariant:99931 NM_015384.4(NIPBL):c.4806_4807delGA (p.Glu1602Aspfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1950 ClinVarVariant:13909 NM_020975.4(RET):c.1901G>A (p.Cys634Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19569019|PMID:1576030|PMID:17474956|PMID:14605591|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1951 ClinVarVariant:159043 NM_015384.4(NIPBL):c.2046delA (p.Lys682Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1952 MGI:3757650 Arhgef9<tm1.1Betz> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:17690689 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1953 ClinVarVariant:159053 NM_133433.3(NIPBL):c.2389C>T (p.Arg797Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1954 dbSNP:rs9806762 rs9806762-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:7554686|PMID:23510063|PMID:22388998|PMID:20635362|PMID:9333269|PMID:12581195 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1955 ClinVarVariant:159033 NM_133433.3(NIPBL):c.1372C>T (p.Gln458Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1956 ClinVarVariant:159093 NM_015384.4(NIPBL):c.3788_3789delTG (p.Val1263Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1957 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 |
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1958 ClinVarVariant:159073 NM_015384.4(NIPBL):c.310_317delCCTAATGT (p.Pro104Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1959 ClinVarVariant:66105 NM_000492.3:c.54-5940_273+10250del21kb NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1960 ClinVarVariant:29760 IRS1, 3-BP DEL, GLY723 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1961 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 |
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1962 ClinVarVariant:159083 NM_133433.3(NIPBL):c.345A>G (p.Arg115=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1963 ClinVarVariant:53863 NM_000492.3(CFTR):c.3964-28G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1964 ClinVarVariant:5771 SGCE, 97-BP DEL 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 |
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1965 ClinVarVariant:53873 NM_000492.3(CFTR):c.4009T>G (p.Phe1337Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1966 ClinVarVariant:9243 PMS2, 1-BP DEL, 856G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1967 dbSNP:rs7756992 rs7756992-G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1968 ClinVarVariant:53883 NM_000492.3(CFTR):c.4077_4080delTGTTinsAA (p.Val1360Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1969 ClinVarVariant:51033 NM_000492.3(CFTR):c.2989-977_3367+248del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1970 ClinVarVariant:16090 NM_000340.1(SLC2A2):c.589G>A (p.Val197Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1971 ClinVarVariant:56253 NM_000086.2(CLN3):c.125+5G>A NCBITaxon:9606 Homo sapiens 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 |
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1972 MGI:1928287 Grin2a<tm1Rsp> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23201971 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1973 ClinVarVariant:48692 NM_000492.3(CFTR):c.532G>A (p.Gly178Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1974 MGI:5085889 Lrrtm1<tm1.1Jaru> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:21818371 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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1975 ClinVarVariant:9728 m.3308T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1976 MGI:5475468 Cdkl5<tm1.1Joez> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23236174 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1977 ClinVarVariant:53815 NM_000492.3(CFTR):c.380T>G (p.Leu127Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1978 ClinVarVariant:53805 NM_000492.3(CFTR):c.3761T>G (p.Leu1254Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1979 ClinVarVariant:53180 NM_000492.3(CFTR):c.1075_1079delCAAACinsAAAAA (p.Gln359_Thr360delinsLysLys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1980 ClinVarVariant:53825 NM_000492.3(CFTR):c.3868C>T (p.Pro1290Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1981 ClinVarVariant:53170 NM_000492.3(CFTR):c.1029delC (p.Cys343Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1982 MGI:5463939 Htr1b<tm1.1(KOMP)Vlcg> MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental phenotypic evidence|experimental evidence MGI:5576271 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/impc.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1983 ClinVarVariant:53855 NM_000492.3(CFTR):c.3927G>T (p.Gln1309His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1984 ClinVarVariant:53845 NM_000492.3(CFTR):c.38C>T (p.Ser13Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1985 MGI:3773671 Snord116<tm1Uta> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18320030 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1986 ClinVarVariant:54031 NM_000492.3(CFTR):c.627A>G (p.Ala209=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1987 ClinVarVariant:159035 NM_133433.3(NIPBL):c.145G>T (p.Glu49Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1988 ClinVarVariant:53865 NM_000492.3(CFTR):c.3971T>C (p.Leu1324Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1989 ClinVarVariant:5773 NM_003919.2(SGCE):c.587T>G (p.Leu196Arg) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1990 ClinVarVariant:53835 NM_000492.3(CFTR):c.3876delA (p.Val1293Tyrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1991 ClinVarVariant:10980 NM_001032383.1(PQBP1):c.459_462delAGAG (p.Arg153Serfs) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1992 ClinVarVariant:53190 NM_000492.3(CFTR):c.1116+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1993 ClinVarVariant:54021 NM_000492.3(CFTR):c.598T>A (p.Phe200Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1994 ClinVarVariant:159025 NM_015384.4(NIPBL):c.1033_1036delTATG (p.Tyr345Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1995 ClinVarVariant:53885 NM_000492.3(CFTR):c.4091C>T (p.Ala1364Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1996 ClinVarVariant:53895 NM_000492.3(CFTR):c.4124A>C (p.His1375Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1997 ClinVarVariant:53875 NM_000492.3(CFTR):c.4025_4028dupGGGG (p.Cys1344Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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1998 ClinVarVariant:54001 NM_000492.3(CFTR):c.561C>A (p.Asn187Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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1999 ClinVarVariant:56265 NM_000086.2(CLN3):c.374G>A (p.Ser125Asn) NCBITaxon:9606 Homo sapiens 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 |
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2000 ClinVarVariant:5561 NM_001040108.1(MLH3):c.2221G>T (p.Val741Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2001 MGI:3712115 Tg(Camk2a-Crebbp*)1364Tabe NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:15805310 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2002 ClinVarVariant:56285 NM_000086.2(CLN3):c.582G>T (p.Leu194=) NCBITaxon:9606 Homo sapiens 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 |
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2003 MGI:5648042 Pde4b<enu1H> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:26272049 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2004 ClinVarVariant:179231 NM_198056.2(SCN5A):c.3250G>C (p.Gly1084Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2005 ClinVarVariant:7233 CFTR, HIS1282TER NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2006 MGI:5646417 Mbt1 NCBITaxon:10090 Mus musculus MGI:5646417 Mbt1 MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2007 ClinVarVariant:53565 NM_000492.3(CFTR):c.2770G>A (p.Asp924Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2008 ClinVarVariant:53575 NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2009 ClinVarVariant:56245 NM_000086.2(CLN3):c.1048delC (p.Leu350Cysfs) NCBITaxon:9606 Homo sapiens 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 |
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2010 MGI:2385822 Hsd17b4<tm1Baes> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23777740 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2011 ClinVarVariant:56275 NM_000086.2(CLN3):c.485C>G (p.Ser162Ter) NCBITaxon:9606 Homo sapiens 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 |
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2012 ClinVarVariant:7243 SDHC, 8,372-BP DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2013 ClinVarVariant:11571 NM_002578.3(PAK3):c.1337G>C (p.Trp446Ser) NCBITaxon:9606 Homo sapiens HP:0000739 Anxiety ECO:0000269 experimental evidence used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2014 ClinVarVariant:36967 NM_002501.3(NFIX):c.362G>C (p.Arg121Pro) NCBITaxon:9606 Homo sapiens 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2015 ClinVarVariant:56255 NM_000086.2(CLN3):c.1268C>A (p.Ser423Ter) NCBITaxon:9606 Homo sapiens 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2016 ClinVarVariant:56295 NM_000086.2(CLN3):c.979C>T (p.Gln327Ter) NCBITaxon:9606 Homo sapiens 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 |
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2017 ClinVarVariant:7223 NM_000492.3(CFTR):c.4364C>G (p.Ser1455Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2018 MGI:3522468 Ppargc1a<tm1Dpk> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:15760270 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2019 ClinVarVariant:7203 NM_000492.3(CFTR):c.2128A>T (p.Lys710Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2020 ClinVarVariant:2407 NM_032409.2(PINK1):c.736C>T (p.Arg246Ter) 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 |
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2021 ClinVarVariant:53585 NM_000492.3(CFTR):c.287C>A (p.Ala96Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2022 ClinVarVariant:7213 NM_000492.3(CFTR):c.1083delG (p.Trp361Cysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2023 dbSNP:rs3800569 rs3800569-C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21326311|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2024 ClinVarVariant:53595 NM_000492.3(CFTR):c.2909delG (p.Gly970Valfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2025 ClinVarVariant:53535 NM_000492.3(CFTR):c.2645G>A (p.Trp882Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2026 ClinVarVariant:102741 NM_000277.1(PAH):c.580_581delCT (p.Leu194Glufs) 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 |
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2027 ClinVarVariant:2150 NM_015384.4(NIPBL):c.4606C>T (p.Arg1536Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2028 dbSNP:rs4077468 rs4077468-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:23670970|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2029 MGI:5517362 Nr2c2<tm1Bbm> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23622066 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2030 MGI:1857171 Fos<tm1Pa> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:1423615 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2031 ClinVarVariant:92727 NM_000277.1(PAH):c.1042C>G (p.Leu348Val) 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 |
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2032 ClinVarVariant:53525 NM_000492.3(CFTR):c.2619+3A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2033 ClinVarVariant:53545 NM_000492.3(CFTR):c.269T>C (p.Leu90Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2034 ClinVarVariant:92747 NM_000277.1(PAH):c.638T>C (p.Leu213Pro) 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 |
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2035 MGI:5493322 Zfp42<tm1b(KOMP)Mbp> MP:0001364 decreased anxiety-related response ECO:0000006|ECO:0000059 experimental evidence|experimental phenotypic evidence MGI:5576271 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/impc.ttl inferred |
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2036 MGI:4353628 Gt(ROSA)26Sor<tm8(RNAi:Crhr1)Rkuhn> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:18518923 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2037 ClinVarVariant:53505 NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2038 ClinVarVariant:53515 NM_000492.3(CFTR):c.2583delT (p.Phe861Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2039 MGI:5007269 Oit1<tm1Lex> 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 |
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2040 MGI:5438646 Usp46<CS> HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:19465912 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2041 ClinVarVariant:67706 NM_000335.4(SCN5A):c.2039G>A (p.Arg680His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2042 ClinVarVariant:35819 NM_000492.3(CFTR):c.125C>T (p.Ser42Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2043 ClinVarVariant:7193 NM_000492.3(CFTR):c.1013C>T (p.Thr338Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2044 ClinVarVariant:35889 NM_000492.3(CFTR):c.744-9_744-6dupGATT NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2045 ClinVarVariant:4317 NM_001005741.2(GBA):c.1053G>T (p.Trp351Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2046 MGI:2159352 Gabbr1<tm1Bet> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15321743|PMID:15706241 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2047 ClinVarVariant:4307 NM_001005741.2(GBA):c.72delC (p.Leu25Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2048 ClinVarVariant:4327 NM_001005741.2(GBA):c.1246G>A (p.Gly416Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2049 ClinVarVariant:35829 NM_000492.3(CFTR):c.1673T>C (p.Leu558Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2050 ClinVarVariant:35839 NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2051 MGI:5507829 Ovol1<tm1b(KOMP)Wtsi> MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence MGI:5576271 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/impc.ttl inferred |
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2052 ClinVarVariant:10593 NM_000133.3(F9):c.682G>T (p.Val228Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2053 ClinVarVariant:10583 F9, TRP194TER NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2054 ClinVarVariant:1754 MSH2, DEL 50 CODONS NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2055 ClinVarVariant:10573 NM_000133.3(F9):c.224G>A (p.Arg75Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2056 ClinVarVariant:48714 NM_000492.3(CFTR):c.1090T>C (p.Ser364Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2057 ClinVarVariant:209051 NM_000492.3(CFTR):c.(2619+1_2620-1)_(3367+1_3368-1)del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2058 ClinVarVariant:209061 NM_000492.3(CFTR):c.1365_1366delGG (p.Val456Cysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2059 ClinVarVariant:127231 NC_000005.10:g.162537506_162537507insTGTTTACTAAACAAAAAGAAAGAGC NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21703932|PMID:11319492|PMID:19453714|PMID:21683658|PMID:21041102 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2060 MGI:3815539 Tg(MECP2)1Hzo NCBITaxon:10090 Mus musculus NCBIGene:4204 MECP2 MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:22231481|PMID:22231481 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2061 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 |
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2062 ClinVarVariant:35849 NM_000492.3(CFTR):c.2810dupT (p.Val938Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2063 MGI:5297219 Snap25<tm1Mtaka> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:21949876 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2064 MGI:1888964 Chrna4<tm1Dra> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10964949 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2065 ClinVarVariant:159953 NM_006306.3(SMC1A):c.3070A>T (p.Asn1024Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2066 ClinVarVariant:53615 NM_000492.3(CFTR):c.2989-3C>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2067 dbSNP:rs10017284 rs10017284-G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21326311|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2068 ClinVarVariant:48704 NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2069 ClinVarVariant:188854 NM_000295.4(SERPINA1):c.552C>G (p.Tyr184Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19072562|PMID:18376109|PMID:9116423|PMID:3878661|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2070 ClinVarVariant:53655 NM_000492.3(CFTR):c.3131A>G (p.Glu1044Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2071 ClinVarVariant:53695 NM_000492.3(CFTR):c.325T>A (p.Tyr109Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2072 ClinVarVariant:126510 NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2073 MGI:2182943 Efna2<tm1Jgf> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:25281279 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2074 ClinVarVariant:53675 NM_000492.3(CFTR):c.3193C>T (p.Leu1065Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2075 ClinVarVariant:53685 NM_000492.3(CFTR):c.3208C>T (p.Arg1070Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2076 ClinVarVariant:53665 NM_000492.3(CFTR):c.314T>A (p.Ile105Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2077 dbSNP:rs1845344 rs1845344-T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21326311|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2078 ClinVarVariant:8184 NM_000579.3(CCR5):c.554_585del32 (p.Ser185Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12098612|PMID:3167473|PMID:22276472|PMID:2751944|PMID:2801829 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2079 MGI:4414758 Myg1<tm1Mphi> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:19818808 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2080 ClinVarVariant:53605 NM_000492.3(CFTR):c.293A>C (p.Gln98Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2081 MGI:3653429 Htr2a<tm1Grch> 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 |
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2082 MGI:2158921 Crem<tm1Saco> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:10570204 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2083 MGI:5688755 Rxfp3<tm1Dgen> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:25257104 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2084 ClinVarVariant:159973 NM_005445.3(SMC3):c.2268+4C>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2085 ClinVarVariant:120289 NM_000277.1(PAH):c.841C>G (p.Pro281Ala) 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 |
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2086 ClinVarVariant:4682 NM_033305.2(VPS13A):c.269T>A (p.Ile90Lys) 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 |
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2087 MGI:2183719 Tg(SOD1*G93A)1Gur NCBITaxon:10090 Mus musculus NCBIGene:6647 superoxide dismutase 1, soluble MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16737688 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2088 ClinVarVariant:120279 NM_000277.1(PAH):c.568G>A (p.Val190Met) 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 |
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2089 ClinVarVariant:120259 NM_000277.1(PAH):c.1152C>G (p.Pro384=) 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 |
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2090 ClinVarVariant:65758 NM_145239.2(PRRT2):c.649dupC (p.Arg217Profs) 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 |
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2091 ClinVarVariant:10203 NM_000132.3(F8):c.1078_1079delGA (p.Glu360Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2092 ClinVarVariant:39753 NM_145239.2(PRRT2):c.562C>T (p.Gln188Ter) 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 |
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2093 ClinVarVariant:53345 NM_000492.3(CFTR):c.1696G>A (p.Ala566Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2094 ClinVarVariant:8974 NM_001079668.2(NKX2-1):c.713G>T (p.Trp238Leu) 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 |
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2095 ClinVarVariant:38735 NM_000492.3(CFTR):c.1923_1931delCTCAAAACTinsA (p.Ser641Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2096 ClinVarVariant:10233 NM_000132.3(F8):c.1808G>T (p.Ser603Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2097 ClinVarVariant:6897 NM_003002.3(SDHD):c.274G>T (p.Asp92Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:19569019|PMID:1576030|PMID:17474956|PMID:14605591|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2098 ClinVarVariant:211994 NM_006265.2(RAD21):c.579dupA (p.Glu194Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2099 ClinVarVariant:48684 NM_000492.3(CFTR):c.313delA (p.Ile105Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2100 MGI:4410507 Rnf103<tm1.1Thg> RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19753093|PMID:18958194|PMID:18958194 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct |
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2101 NCBIGene:338342 MGR4 NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype HP:0000740 Anxiety (with pheochromocytoma) ECO:0000177|ECO:0000246 genomic context evidence|computational combinatorial evidence used in automatic assertion PMID:12940809|PMID:22712503|PMID:16396660|PMID:16362671|PMID:23038716 http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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2102 ClinVarVariant:53355 NM_000492.3(CFTR):c.170G>A (p.Trp57Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2103 ClinVarVariant:10243 F8, 3-BP DEL, PHE652DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2104 ClinVarVariant:48674 NM_000492.3(CFTR):c.3587C>G (p.Ser1196Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2105 MGI:5445918 Tprn<tm1.1(KOMP)Vlcg> MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental phenotypic evidence|experimental evidence MGI:5576271 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/impc.ttl inferred |
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2106 ClinVarVariant:30433 NM_001172477.1(RRM2B):c.1181dupA (p.Asn394Lysfs) 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 |
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2107 MGI:3840549 Lypd1<tm1.1Tmj> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19246390 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2108 ClinVarVariant:188514 NM_000251.2(MSH2):c.793-1_796delinsAAATTAAGA NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2109 ClinVarVariant:53375 NM_000492.3(CFTR):c.1763A>T (p.Glu588Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2110 ClinVarVariant:10213 NM_000132.3(F8):c.1348T>A (p.Tyr450Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2111 ClinVarVariant:10223 NM_000132.3(F8):c.1648C>T (p.Arg550Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:9302853|PMID:10734657|PMID:15357786 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2112 ClinVarVariant:53385 NM_000492.3(CFTR):c.1786_1787delGC (p.Ala596Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2113 ClinVarVariant:10253 NM_000132.3(F8):c.3637delA (p.Ile1213Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2114 ClinVarVariant:199044 NM_001005741.2(GBA):c.1093G>A (p.Glu365Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7554686|PMID:23510063|PMID:20635362|PMID:9333269|PMID:12581195 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2115 ClinVarVariant:10263 NM_000132.3(F8):c.4825dupA (p.Thr1609Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2116 MGI:2678096 Crhr1<tm2Wrst> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21885734 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2117 ClinVarVariant:102876 NM_000277.1(PAH):c.847A>T (p.Ile283Phe) 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 |
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2118 ClinVarVariant:53315 NM_000492.3(CFTR):c.165-2A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2119 ClinVarVariant:1356 ALDH5A1, IVS5, G-A, +1 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 |
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2120 ClinVarVariant:161249 NM_000190.3(HMBS):c.1075G>A (p.Asp359Asn) 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 |
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2121 ClinVarVariant:102846 NM_000277.1(PAH):c.809G>A (p.Arg270Lys) 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 |
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2122 MGI:5495768 Dlg4<tm1.1Tdoi> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23268962 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2123 ClinVarVariant:39516 NM_000492.3(CFTR):c.3302T>A (p.Met1101Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2124 ClinVarVariant:53325 NM_000492.3(CFTR):c.166G>A (p.Glu56Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2125 ClinVarVariant:53335 NM_000492.3(CFTR):c.1679+1G>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2126 MGI:5523923 Hsd17b4<tm2Baes> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23777740 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2127 ClinVarVariant:53625 NM_000492.3(CFTR):c.3008G>A (p.Gly1003Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2128 ClinVarVariant:53635 NM_000492.3(CFTR):c.3039dupC (p.Tyr1014Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2129 ClinVarVariant:159983 NM_005445.3(SMC3):c.2934G>A (p.Lys978=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2130 ClinVarVariant:53645 NM_000492.3(CFTR):c.3064_3117del54 (p.Val1022_Gln1039del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2131 ClinVarVariant:7133 NM_000492.3(CFTR):c.3947G>A (p.Trp1316Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2132 ClinVarVariant:10353 F8, ALU INS NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2133 ClinVarVariant:7123 NM_000492.3(CFTR):c.1675G>A (p.Ala559Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2134 MGI:5608589 Hprt<tm1(CAG-Glra3*)Jcme> NCBITaxon:10116 Rattus norvegicus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24430185 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2135 ClinVarVariant:10333 NM_000132.3(F8):c.6967C>T (p.Arg2323Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2136 ClinVarVariant:10343 F8, EX15-22DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2137 MGI:3764730 Nr2e1<tm2Gsc> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:17953618 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2138 ClinVarVariant:7113 NM_000492.3(CFTR):c.1679G>C (p.Arg560Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2139 ClinVarVariant:53495 NM_000492.3(CFTR):c.2476G>A (p.Glu826Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2140 ClinVarVariant:7183 NM_000492.3(CFTR):c.271G>A (p.Gly91Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2141 ClinVarVariant:7163 NM_000492.3(CFTR):c.948delT (p.Phe316Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2142 MGI:2686951 Hcn1<tm2Kndl> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:14651847 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2143 MGI:4429408 Pitx3<eyl> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20033184 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2144 ClinVarVariant:53445 NM_000492.3(CFTR):c.2158C>T (p.Gln720Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2145 ClinVarVariant:53165 NM_000492.3(CFTR):c.1012A>G (p.Thr338Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2146 MGI:3778285 Tg(DRD1-ctxA)7Burt NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10780249 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2147 ClinVarVariant:161388 NM_003002.3(SDHD):c.158C>T (p.Pro53Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2148 ClinVarVariant:2145 NIPBL, 2-BP DEL, 2479AG NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2149 ClinVarVariant:17258 NM_000089.3(COL1A2):c.1981G>A (p.Gly661Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:75706|PMID:21525520|PMID:16137956|PMID:12099988|PMID:21847749 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2150 ClinVarVariant:4300 NM_001005741.2(GBA):c.586A>C (p.Lys196Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2151 ClinVarVariant:54046 NM_000492.3(CFTR):c.715G>A (p.Gly239Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2152 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 |
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2153 ClinVarVariant:634 NM_000277.1(PAH):c.1129delT (p.Tyr377Thrfs) 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 |
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2154 ClinVarVariant:96337 NM_015384.4(NIPBL):c.2602C>T (p.Arg868Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2155 ClinVarVariant:102736 NM_000277.1(PAH):c.561G>A (p.Trp187Ter) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2156 ClinVarVariant:614 NM_000277.1(PAH):c.842+2T>A 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2157 ClinVarVariant:54056 NM_000492.3(CFTR):c.773delG (p.Arg258Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2158 ClinVarVariant:67426 NM_000238.3(KCNH2):c.2684C>T (p.Thr895Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2159 ClinVarVariant:43576 NM_000492.3(CFTR):c.1584G>A (p.Glu528=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2160 ClinVarVariant:53215 NM_000492.3(CFTR):c.1209G>A (p.Glu403=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2161 ClinVarVariant:4320 NM_001005741.2(GBA):c.1208G>C (p.Ser403Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2162 ClinVarVariant:102786 NM_000277.1(PAH):c.691T>C (p.Ser231Pro) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2163 ClinVarVariant:53275 NM_000492.3(CFTR):c.1516A>C (p.Ile506Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2164 ClinVarVariant:10113 F8, EX14DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2165 dbSNP:rs11986414 rs11986414-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:7554686|PMID:23510063|PMID:22388998|PMID:20635362|PMID:9333269|PMID:12581195 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2166 ClinVarVariant:53285 NM_000492.3(CFTR):c.1584+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2167 ClinVarVariant:10123 F8, EX26DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2168 ClinVarVariant:53295 NM_000492.3(CFTR):c.1597T>C (p.Phe533Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2169 ClinVarVariant:10133 F8, EX14DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2170 MGI:2183231 Tacr1<tm1Rhn> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:11172050 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2171 ClinVarVariant:4310 NM_001005741.2(GBA):c.1549G>A (p.Gly517Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2172 ClinVarVariant:53205 NM_000492.3(CFTR):c.1162_1168delACGACTA (p.Thr388Glnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2173 ClinVarVariant:4330 NM_001005741.2(GBA):c.354G>C (p.Lys118Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2174 ClinVarVariant:53225 NM_000492.3(CFTR):c.1297_1303delTTCTCAC (p.Ser434Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2175 ClinVarVariant:53235 NM_000492.3(CFTR):c.1359_1361delGTT (p.Leu454del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2176 ClinVarVariant:53255 NM_000492.3(CFTR):c.1439G>A (p.Gly480Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2177 ClinVarVariant:156507 NM_000179.2(MSH6):c.1705_1706delTT (p.Phe569Hisfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2178 ClinVarVariant:90073 NM_000249.3(MLH1):c.2154_2155dupCA (p.Ile719Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2179 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2180 MGI:1929986 Bdnf<tm1Par> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17023662 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2181 ClinVarVariant:53265 NM_000492.3(CFTR):c.1487G>A (p.Trp496Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2182 ClinVarVariant:10103 F8, EX7-14DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2183 ClinVarVariant:209066 NM_000492.3(CFTR):c.2053dupC (p.Gln685Profs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2184 ClinVarVariant:159123 NM_133433.3(NIPBL):c.4643+1G>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2185 ClinVarVariant:53993 NM_000492.3(CFTR):c.535C>A (p.Gln179Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2186 ClinVarVariant:159163 NM_133433.3(NIPBL):c.5923G>T (p.Val1975Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2187 ClinVarVariant:159153 NM_133433.3(NIPBL):c.5482C>T (p.Arg1828Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2188 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2189 ClinVarVariant:159183 NM_133433.3(NIPBL):c.6250G>T (p.Val2084Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2190 ClinVarVariant:159173 NM_133433.3(NIPBL):c.6108+1G>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2191 MGI:2176219 Emx1<tm1(cre)Yql> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22726441 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2192 ClinVarVariant:159143 NM_133433.3(NIPBL):c.5329-1G>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2193 ClinVarVariant:9393 NM_000335.4(SCN5A):c.3305C>A (p.Ser1102Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2194 ClinVarVariant:209056 NM_000492.3(CFTR):c.3747delG (p.Lys1250Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2195 ClinVarVariant:159113 NM_133433.3(NIPBL):c.4320+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2196 ClinVarVariant:159193 NM_133433.3(NIPBL):c.64+5G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2197 ClinVarVariant:161252 NM_000190.3(HMBS):c.257A>T (p.Glu86Val) 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 |
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2198 MGI:3604447 Ulk2<tm1Lex> 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 |
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2199 ClinVarVariant:7218 NM_000492.3(CFTR):c.3907A>C (p.Asn1303His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2200 MGI:5432023 Grin2b<tm1Mony> 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 |
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2201 ClinVarVariant:7238 NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2202 MGI:5544724 Gbx1<tm1Mrh> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24010020 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2203 ClinVarVariant:36573 NM_000251.2(MSH2):c.211+9C>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2204 ClinVarVariant:90871 NM_000251.2(MSH2):c.204delG (p.Pro69Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2205 ClinVarVariant:7228 NM_000492.3(CFTR):c.3469-20T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2206 MGI:3778285 Tg(DRD1-ctxA)7Burt NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:10780249 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2207 ClinVarVariant:93444 NM_001005741.2(GBA):c.1060G>C (p.Asp354His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2208 MGI:4440439 Tg(CAG-VCP*R155H)55Jpat NCBITaxon:10090 Mus musculus NCBIGene:7415 VCP MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20147319 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2209 MGI:2136456 Penk-rs<tm1Pig> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:8849726 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2210 MGI:2447334 Tg(APP695)3Dbo NCBITaxon:10090 Mus musculus NCBIGene:351 APP MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16354928 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2211 ClinVarVariant:159223 NM_133433.3(NIPBL):c.7168G>A (p.Ala2390Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2212 MGI:2180752 Maob<tm1Shih> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15272015 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2213 ClinVarVariant:159233 NM_133433.3(NIPBL):c.7641C>T (p.Leu2547=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2214 ClinVarVariant:29930 SMC1A, 8.152-KB DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2215 ClinVarVariant:4687 VPS13A, 1-BP DEL, 6059C 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 |
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2216 ClinVarVariant:183420 NM_017831.3(RNF125):c.336G>A (p.Met112Ile) 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 |
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2217 ClinVarVariant:159948 NM_006306.3(SMC1A):c.2327T>A (p.Val776Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2218 ClinVarVariant:159253 NM_133433.3(NIPBL):c.894A>G (p.Gln298=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2219 ClinVarVariant:3894 NM_000520.4(HEXA):c.1510delC (p.Arg504Alafs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2220 ClinVarVariant:159213 NM_133433.3(NIPBL):c.6952C>T (p.Gln2318Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2221 ClinVarVariant:8504 NM_001127221.1(CACNA1A):c.653C>T (p.Ser218Leu) 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 |
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2222 ClinVarVariant:159938 NM_006306.3(SMC1A):c.1193G>A (p.Arg398Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2223 MGI:1857222 Ncam1<tm1Cgn> HP:0000739 Anxiety ECO:0000059|ECO:0000059 experimental phenotypic evidence|experimental phenotypic evidence http://data.monarchinitiative.org/ttl/impc.ttl inferred |
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2224 ClinVarVariant:159968 NM_005445.3(SMC3):c.1581T>C (p.His527=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2225 ClinVarVariant:13584 ENPP1, IVS20AS, 1-BP DEL, T, -11 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2226 ClinVarVariant:12910 NM_152296.4(ATP1A3):c.821T>C (p.Ile274Thr) 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 |
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2227 MGI:2177567 Gad2<tm1Oba> 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 |
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2228 ClinVarVariant:159958 NM_006306.3(SMC1A):c.3557T>C (p.Val1186Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2229 ClinVarVariant:159988 NM_005445.3(SMC3):c.507C>T (p.Asp169=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2230 ClinVarVariant:8189 NM_000579.3(CCR5):c.-301+246A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12098612|PMID:3167473|PMID:22276472|PMID:2751944|PMID:2801829 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2231 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 |
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2232 MGI:3608888 Ric8<tm1Aks> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16221497 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2233 ClinVarVariant:159978 NM_005445.3(SMC3):c.2493T>C (p.Tyr831=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2234 MGI:3603597 Bace1<tm2Psa> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:15987683 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2235 MGI:5296951 Disc1<tm1Kozo> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21903668 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2236 ClinVarVariant:10283 NM_000132.3(F8):c.5479A>T (p.Lys1827Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2237 ClinVarVariant:10568 NM_000133.3(F9):c.52T>C (p.Cys18Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2238 ClinVarVariant:217122 NM_002609.3(PDGFRB):c.1751C>G (p.Pro584Arg) 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 |
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2239 ClinVarVariant:13398 NM_000311.3(PRNP):c.598G>A (p.Glu200Lys) NCBITaxon:9606 Homo sapiens 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 |
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2240 ClinVarVariant:10578 NM_000133.3(F9):c.301C>G (p.Pro101Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2241 ClinVarVariant:1759 NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2242 ClinVarVariant:1769 nsv513794 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2243 MGI:3041595 Axtofd3<L1> HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:14990867 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2244 ClinVarVariant:6910 NM_003002.3(SDHD):c.463delA (p.Met155Cysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2245 ClinVarVariant:6900 NM_003002.3(SDHD):c.341A>G (p.Tyr114Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2246 MGI:5429214 Tg(SNCA)ARyot NCBITaxon:10090 Mus musculus NCBIGene:6622 SNCA MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22475625 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2247 ClinVarVariant:3904 NM_000520.4(HEXA):c.409C>T (p.Arg137Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2248 ClinVarVariant:10598 F9, TRP215TER NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2249 ClinVarVariant:188933 NM_000277.1(PAH):c.116_118delTCT (p.Phe39del) 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 |
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2250 ClinVarVariant:3914 NM_000520.4(HEXA):c.1A>G (p.Met1Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2251 ClinVarVariant:3934 NM_000520.4(HEXA):c.1360G>A (p.Gly454Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2252 MGI:3603461 Avpr1a<tm1Sbhu> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:14647484|PMID:16046007 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2253 ClinVarVariant:189095 NM_000492.3(CFTR):c.850dupA (p.Met284Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2254 ClinVarVariant:12783 NM_003000.2(SDHB):c.79C>T (p.Arg27Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:19569019|PMID:1576030|PMID:17474956|PMID:14605591|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2255 MGI:3512756 Mapt<tm1(cre)Nagy> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20130183 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2256 MGI:2178544 Crhr1<tm1Klee> 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 |
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2257 ClinVarVariant:211664 NM_015384.4(NIPBL):c.7913dupA (p.Val2639Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2258 ClinVarVariant:155756 NM_000044.3(AR):c.172_174(7_37) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17132758|PMID:17707426|PMID:21801726|PMID:18775430|PMID:1635303 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2259 ClinVarVariant:9853 NM_000044.3(AR):c.1732G>A (p.Gly578Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17132758|PMID:17707426|PMID:21801726|PMID:18775430|PMID:1635303 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2260 ClinVarVariant:2225 NM_000551.3(VHL):c.562C>G (p.Leu188Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2261 ClinVarVariant:10153 NM_000132.3(F8):c.77T>G (p.Leu26Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2262 MGI:3528558 Csmd1<tm1Lex> 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 |
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2263 dbSNP:rs11645366 rs11645366-C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400|PMID:21602797 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2264 ClinVarVariant:10143 NM_000132.3(F8):c.1075_1078delAATG (p.Asn359Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2265 MGI:3821974 Snap25<tm1.1Bark> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:19043548 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2266 ClinVarVariant:102806 NM_000277.1(PAH):c.722delG (p.Arg241Profs) 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 |
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2267 ClinVarVariant:10173 NM_000132.3(F8):c.404A>G (p.Asp135Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2268 ClinVarVariant:10183 F8, IVS6DS, A-G, +3 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2269 MGI:3697454 Apba2<tm1Tsuz> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19420255 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2270 ClinVarVariant:9705 m.12397A>G 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 |
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2271 ClinVarVariant:10163 NM_000132.3(F8):c.266G>A (p.Gly89Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2272 MGI:5634957 Fosb<tm2.1Yun> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21679928 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2273 ClinVarVariant:7608 NM_000726.3(CACNB4):c.311G>T (p.Cys104Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21703932|PMID:11319492|PMID:19453714|PMID:21683658|PMID:21041102 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2274 ClinVarVariant:67031 NM_000218.2(KCNQ1):c.1378G>A (p.Gly460Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2275 ClinVarVariant:17961 NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19072562|PMID:18376109|PMID:9116423|PMID:3878661|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2276 ClinVarVariant:206689 NM_145239.2(PRRT2):c.647C>A (p.Pro216His) 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 |
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2277 ClinVarVariant:53485 NM_000492.3(CFTR):c.2399C>G (p.Ala800Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2278 ClinVarVariant:10323 F8, 3-BP DEL, PRO220 DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2279 ClinVarVariant:7065 NM_007262.4(PARK7):c.78G>A (p.Met26Ile) 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 |
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2280 ClinVarVariant:53415 NM_000492.3(CFTR):c.1919_1920delTT (p.Phe640Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2281 ClinVarVariant:7173 NM_000492.3(CFTR):c.1601C>A (p.Ala534Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2282 ClinVarVariant:7153 NM_000492.3(CFTR):c.933C>G (p.Phe311Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2283 ClinVarVariant:1476 HMBS, IVS14DS, G-A, +1 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 |
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2284 ClinVarVariant:53405 NM_000492.3(CFTR):c.1856T>C (p.Leu619Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2285 ClinVarVariant:6907 NM_003002.3(SDHD):c.416T>C (p.Leu139Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2286 ClinVarVariant:180195 NM_015384.4(NIPBL):c.7900_7937del38 (p.Glu2635Glnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2287 ClinVarVariant:1466 NM_000190.3(HMBS):c.530T>G (p.Leu177Arg) 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 |
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2288 ClinVarVariant:10303 NM_000132.3(F8):c.6016G>T (p.Glu2006Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2289 ClinVarVariant:53465 NM_000492.3(CFTR):c.2260G>A (p.Val754Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2290 ClinVarVariant:75237 NM_002608.2(PDGFB):c.433C>T (p.Gln145Ter) 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 |
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2291 ClinVarVariant:53455 NM_000492.3(CFTR):c.2215delG (p.Val739Tyrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2292 ClinVarVariant:10313 NM_000132.3(F8):c.6464_6465delAA (p.Lys2155Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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|
2293 ClinVarVariant:53475 NM_000492.3(CFTR):c.233dupT (p.Trp79Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2294 MGI:3580570 Nsila6<C57BL/6J> 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 |
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2295 ClinVarVariant:1456 NM_000190.3(HMBS):c.499C>T (p.Arg167Trp) 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 |
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2296 ClinVarVariant:53425 NM_000492.3(CFTR):c.200C>T (p.Pro67Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2297 ClinVarVariant:1486 NM_000190.3(HMBS):c.445C>T (p.Arg149Ter) 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 |
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2298 ClinVarVariant:15091 NM_000518.4(HBB):c.271G>A (p.Glu91Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:21425450|PMID:17938043|PMID:9491171 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2299 ClinVarVariant:17078 NM_000249.3(MLH1):c.755C>A (p.Ser252Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2300 ClinVarVariant:35832 NM_000492.3(CFTR):c.1731C>T (p.Tyr577=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2301 MGI:3530009 Atp1a1<Gt(OST31117)Lex> 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 |
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2302 dbSNP:rs10520528 rs10520528-T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:24058526|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2303 MGI:4837197 Fev<tm2Esd> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:20818386 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2304 ClinVarVariant:102556 NM_000277.1(PAH):c.1199+1G>A 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 |
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2305 ClinVarVariant:35822 NM_000492.3(CFTR):c.1397C>G (p.Ser466Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20495477|PMID:10361400|PMID:20171652|PMID:12796866|PMID:7866213 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2306 ClinVarVariant:17088 NM_000249.3(MLH1):c.199G>T (p.Gly67Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2307 ClinVarVariant:35842 NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2308 MGI:2176172 Tg(Nes-cre)1Kln NCBITaxon:10090 Mus musculus 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 |
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2309 ClinVarVariant:102586 NM_000277.1(PAH):c.1301C>A (p.Ala434Asp) 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 |
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2310 ClinVarVariant:17098 NM_000249.3(MLH1):c.806C>G (p.Ser269Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2311 ClinVarVariant:35852 NM_000492.3(CFTR):c.2835G>A (p.Ser945=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2312 ClinVarVariant:7121 NM_000492.3(CFTR):c.2421_2422dupAT (p.Ser809Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2313 ClinVarVariant:3909 HEXA, 5-BP DEL, TCTCC, IVS9 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2314 ClinVarVariant:10331 NM_000132.3(F8):c.6912_6916delAAATC (p.Asn2305Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2315 ClinVarVariant:53493 NM_000492.3(CFTR):c.2467G>T (p.Glu823Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2316 ClinVarVariant:7111 NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2317 ClinVarVariant:5391 NM_015713.4(RRM2B):c.979C>T (p.Arg327Ter) 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 |
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2318 ClinVarVariant:10321 NM_000132.3(F8):c.6544C>T (p.Arg2182Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2319 ClinVarVariant:53473 NM_000492.3(CFTR):c.2324_2325delAC (p.His775Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2320 ClinVarVariant:10311 NM_000132.3(F8):c.6413C>A (p.Ser2138Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2321 ClinVarVariant:75245 NM_002608.2(PDGFB):c.3G>A (p.Met1Ile) 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 |
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2322 ClinVarVariant:53463 NM_000492.3(CFTR):c.2259C>G (p.Ser753Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2323 ClinVarVariant:10301 NM_000132.3(F8):c.5961delA (p.Glu1988Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2324 ClinVarVariant:191372 NM_001282684.1(KCTD17):c.434G>A (p.Arg145His) 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 |
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2325 ClinVarVariant:53373 NM_000492.3(CFTR):c.174_177delTAGA (p.Asp58Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2326 NCBIGene:100188788 DEL3Q29 NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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2327 ClinVarVariant:10221 NM_000132.3(F8):c.1630G>A (p.Asp544Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2328 ClinVarVariant:91062 NM_000251.2(MSH2):c.317G>A (p.Arg106Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2329 ClinVarVariant:93459 NM_001005741.2(GBA):c.721G>A (p.Gly241Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2330 ClinVarVariant:10251 NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2331 ClinVarVariant:13982 NM_001626.5(AKT2):c.821G>A (p.Arg274His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2332 MGI:3763533 Trhr<tm1Hzg> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17666589 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2333 MGI:5615468 Trpc4<tm1.1Clph> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:24599464 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2334 ClinVarVariant:10211 NM_000132.3(F8):c.1293delG (p.Asn432Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2335 ClinVarVariant:10241 F8, TYR636TER NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2336 MGI:2653030 Htr1b<tm1Rhn> RO:0002200 has phenotype MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:8091214|PMID:10996411|PMID:9603521 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct |
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2337 dbSNP:rs6706648 rs6706648-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:21326311|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2338 ClinVarVariant:6895 NM_003002.3(SDHD):c.34G>A (p.Gly12Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:19569019|PMID:1576030|PMID:17474956|PMID:14605591|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2339 ClinVarVariant:10231 NM_000132.3(F8):c.1729T>C (p.Ser577Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2340 ClinVarVariant:53393 NM_000492.3(CFTR):c.1807G>T (p.Val603Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2341 ClinVarVariant:38733 NM_000492.3(CFTR):c.1645A>C (p.Ser549Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20495477|PMID:10361400|PMID:20171652|PMID:12796866|PMID:7866213 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2342 ClinVarVariant:10261 NM_000132.3(F8):c.4379delA (p.Asn1460Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2343 MGI:2180136 Adora1<tm1Bbf> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11470917 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2344 ClinVarVariant:159208 NM_133433.3(NIPBL):c.6707A>T (p.Asn2236Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2345 ClinVarVariant:10271 NM_000132.3(F8):c.5323T>G (p.Leu1775Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2346 ClinVarVariant:159218 NM_133433.3(NIPBL):c.7024C>T (p.Leu2342Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2347 MGI:5523992 Cnr1<tm2Ltz> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23785142 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2348 ClinVarVariant:10281 NM_000132.3(F8):c.5530C>T (p.Pro1844Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2349 ClinVarVariant:10291 NM_000132.3(F8):c.5677C>T (p.Gln1893Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2350 ClinVarVariant:8489 NM_001127221.1(CACNA1A):c.2141T>C (p.Val714Ala) 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 |
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2351 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 |
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2352 ClinVarVariant:159188 NM_133433.3(NIPBL):c.6343+5G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2353 ClinVarVariant:159198 NM_133433.3(NIPBL):c.6568A>G (p.Thr2190Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2354 ClinVarVariant:102824 NM_000277.1(PAH):c.755G>A (p.Arg252Gln) 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 |
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2355 MGI:1861914 Csk<tm1Sor> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22348736 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2356 ClinVarVariant:159248 NM_133433.3(NIPBL):c.869-1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2357 ClinVarVariant:53303 NM_000492.3(CFTR):c.164+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20495477|PMID:10361400|PMID:20171652|PMID:12796866|PMID:7866213 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2358 ClinVarVariant:100679 NM_007059.3(KPTN):c.776C>A (p.Ser259Ter) 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 |
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2359 ClinVarVariant:8499 NM_001127221.1(CACNA1A):c.4151A>G (p.Tyr1384Cys) 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 |
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2360 MGI:5551305 Kalrn<tm2.1Npl> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23116210 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2361 ClinVarVariant:100719 NM_000086.2(CLN3):c.371_372insT (p.Ser125Glnfs) NCBITaxon:9606 Homo sapiens 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 |
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2362 ClinVarVariant:126963 NM_017849.3(TMEM127):c.158G>C (p.Trp53Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2363 ClinVarVariant:126973 NM_017849.3(TMEM127):c.627_640dupGCTGCTCTCAGAGA (p.Met214Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2364 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 |
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2365 ClinVarVariant:53313 NM_000492.3(CFTR):c.165-10T>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2366 ClinVarVariant:102864 NM_000277.1(PAH):c.838G>C (p.Glu280Gln) 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 |
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2367 ClinVarVariant:53333 NM_000492.3(CFTR):c.1679+16T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2368 MGI:3617352 Tuba1a<Jna> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:17218254 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2369 MGI:3811632 Adm<tm1Mtnz> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18723674 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2370 ClinVarVariant:8972 NC_000014.8:g.(36407609_36463186)_(37638963_37670256)del 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 |
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2371 ClinVarVariant:53343 NM_000492.3(CFTR):c.168delA (p.Glu56Aspfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2372 ClinVarVariant:10201 NM_000132.3(F8):c.986G>A (p.Cys329Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2373 ClinVarVariant:53363 NM_000492.3(CFTR):c.1735G>T (p.Asp579Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2374 ClinVarVariant:53968 NM_000492.3(CFTR):c.484A>G (p.Lys162Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2375 ClinVarVariant:10151 F8, IVS6DS, A-G, +3, 186-BP DEL, EX5-6 DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2376 ClinVarVariant:53948 NM_000492.3(CFTR):c.442delA (p.Ile148Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2377 ClinVarVariant:10131 NM_000132.3(F8):c.2114-?_5219+?del (p.?) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2378 ClinVarVariant:53293 NM_000492.3(CFTR):c.1586A>G (p.Asp529Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2379 ClinVarVariant:102844 NM_000277.1(PAH):c.806delT (p.Ile269Thrfs) 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 |
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2380 ClinVarVariant:53323 NM_000492.3(CFTR):c.1660_1661insA (p.Ala554Aspfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2381 ClinVarVariant:53958 NM_000492.3(CFTR):c.472A>C (p.Ser158Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2382 ClinVarVariant:10141 NM_000132.3(F8):c.985T>C (p.Cys329Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2383 ClinVarVariant:53353 NM_000492.3(CFTR):c.1706A>G (p.Tyr569Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2384 ClinVarVariant:208179 NM_000277.1(PAH):c.1025C>A (p.Ala342Glu) 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 |
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2385 ClinVarVariant:10101 F8, EX3-13DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2386 MGI:5584016 Mecp2<tm1.1Dhy> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:24352790 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2387 ClinVarVariant:53908 NM_000492.3(CFTR):c.4168C>T (p.Gln1390Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2388 ClinVarVariant:53273 NM_000492.3(CFTR):c.1510G>C (p.Glu504Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2389 ClinVarVariant:53918 NM_000492.3(CFTR):c.4201G>A (p.Glu1401Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2390 MGI:3812600 Elfn1<tm1(KOMP)Vlcg> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:24312227 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2391 ClinVarVariant:53253 NM_000492.3(CFTR):c.1435G>T (p.Glu479Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2392 ClinVarVariant:156505 NM_000251.2(MSH2):c.2789T>A (p.Ile930Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2393 ClinVarVariant:53938 NM_000492.3(CFTR):c.4296_4297insGA (p.Ser1435Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2394 ClinVarVariant:53928 NM_000492.3(CFTR):c.4242+10T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2395 ClinVarVariant:10121 F8, EX1-5DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2396 ClinVarVariant:53283 NM_000492.3(CFTR):c.1579G>C (p.Glu527Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2397 ClinVarVariant:53243 NM_000492.3(CFTR):c.1393-2A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2398 MGI:2154459 Axtofd1<C57BL/6J> HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:11454769 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2399 ClinVarVariant:67534 NM_000238.3(KCNH2):c.835G>A (p.Val279Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2400 ClinVarVariant:159168 NM_133433.3(NIPBL):c.6037A>C (p.Ser2013Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2401 ClinVarVariant:2143 NIPBL, 1-BP INS, 1546G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2402 ClinVarVariant:159118 NM_133433.3(NIPBL):c.4543G>T (p.Glu1515Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2403 ClinVarVariant:100728 NM_000405.4(GM2A):c.333delC (p.Cys112Valfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2404 ClinVarVariant:10181 NM_000132.3(F8):c.687_688delAG (p.Glu230Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2405 ClinVarVariant:10191 NM_000132.3(F8):c.896A>T (p.Asn299Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2406 ClinVarVariant:53998 NM_000492.3(CFTR):c.54_164del111 (p.Ser18_Glu54del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2407 ClinVarVariant:159128 NM_133433.3(NIPBL):c.4731A>G (p.Glu1577=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2408 ClinVarVariant:10161 F8, 23-BP DEL, FS NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2409 ClinVarVariant:8930 MSH6, 1-BP DEL, 594T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2410 ClinVarVariant:53978 NM_000492.3(CFTR):c.496A>G (p.Lys166Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2411 ClinVarVariant:208602 NM_016953.3(PDE11A):c.171delT (p.Thr58Profs) 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 |
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2412 ClinVarVariant:10171 F8, GLU113ASP NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2413 ClinVarVariant:53988 NM_000492.3(CFTR):c.53+1G>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2414 ClinVarVariant:51028 NM_000492.3(CFTR):c.-887_-885del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2415 ClinVarVariant:54094 NM_000492.3(CFTR):c.960A>T (p.Leu320Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2416 ClinVarVariant:159098 NM_133433.3(NIPBL):c.3855+5G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2417 ClinVarVariant:31172 NM_145239.2(PRRT2):c.950G>A (p.Ser317Asn) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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2418 ClinVarVariant:159078 NM_133433.3(NIPBL):c.3322A>T (p.Lys1108Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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|
2419 ClinVarVariant:54074 NM_000492.3(CFTR):c.868C>T (p.Gln290Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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2420 ClinVarVariant:158660 NM_018486.2(HDAC8):c.24G>A (p.Ala8=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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2421 ClinVarVariant:67444 NM_000238.3(KCNH2):c.2860C>T (p.Arg954Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2422 ClinVarVariant:54064 NM_000492.3(CFTR):c.828C>A (p.Cys276Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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2423 ClinVarVariant:159058 NM_133433.3(NIPBL):c.2494C>T (p.Arg832Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2424 ClinVarVariant:159088 NM_133433.3(NIPBL):c.3575-3C>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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2425 ClinVarVariant:54084 NM_000492.3(CFTR):c.913T>G (p.Phe305Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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2426 ClinVarVariant:53233 NM_000492.3(CFTR):c.1340delA (p.Lys447Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2427 ClinVarVariant:54054 NM_000492.3(CFTR):c.744-10_744-3del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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2428 ClinVarVariant:159048 NM_015384.4(NIPBL):c.2108delC (p.Pro703Glnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2429 ClinVarVariant:53223 NM_000492.3(CFTR):c.1240_1244delCAAAA (p.Asn415Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2430 ClinVarVariant:120310 NM_000277.1(PAH):c.155delT (p.Leu52Cysfs) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2431 ClinVarVariant:178713 NM_000492.3(CFTR):c.1210-11T>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2432 dbSNP:rs1427407 rs1427407-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21326311|PMID:25372704|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2433 ClinVarVariant:53213 NM_000492.3(CFTR):c.1203G>A (p.Trp401Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2434 MGI:3822325 Slc2a3<Gt(XG611)Byg> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18780771 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2435 MGI:2159003 Nos3<tm1Gdk> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10964974 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2436 ClinVarVariant:161157 NM_152296.4(ATP1A3):c.1250T>C (p.Leu417Pro) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2437 ClinVarVariant:53203 NM_000492.3(CFTR):c.1152_1153dupAT (p.Asn386Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2438 ClinVarVariant:102744 NM_000277.1(PAH):c.58C>T (p.Gln20Ter) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2439 ClinVarVariant:197210 NM_003000.2(SDHB):c.343C>T (p.Arg115Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:19569019|PMID:1576030|PMID:17474956|PMID:14605591|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2440 ClinVarVariant:96355 NM_133433.3(NIPBL):c.8377C>T (p.Arg2793Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2441 MGI:5620796 Tg(Camk2a-Magi2)1Shlee NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:25653350 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2442 MGI:3835761 Wfs1<tm1Koks> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19477223 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2443 dbSNP:rs2445284 rs2445284-G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:23406172|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2444 ClinVarVariant:102664 NM_000277.1(PAH):c.400C>T (p.Gln134Ter) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2445 MGI:2177743 Htt<tm1Hay> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23001568 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2446 ClinVarVariant:120260 NM_000277.1(PAH):c.1163T>C (p.Val388Ala) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2447 ClinVarVariant:8367 CCL11, -1385G-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12098612|PMID:3167473|PMID:22276472|PMID:2751944|PMID:2801829 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2448 ClinVarVariant:120270 NM_000277.1(PAH):c.196G>T (p.Glu66Ter) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2449 ClinVarVariant:53838 NM_000492.3(CFTR):c.3883_3886delATTT (p.Ile1295Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2450 ClinVarVariant:53183 NM_000492.3(CFTR):c.1081T>A (p.Trp361Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2451 ClinVarVariant:53163 NM_000492.3(CFTR):c.1008_1019dupATTCACCACCAT (p.Ile340_Ser341insPheThrThrIle) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2452 ClinVarVariant:53808 NM_000492.3(CFTR):c.376G>A (p.Gly126Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2453 ClinVarVariant:53828 NM_000492.3(CFTR):c.3873+2T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2454 MGI:3580571 Nsila7<A/J> 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 |
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2455 ClinVarVariant:120280 NM_000277.1(PAH):c.591G>C (p.Leu197Phe) 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 |
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2456 ClinVarVariant:53173 NM_000492.3(CFTR):c.1043T>A (p.Met348Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2457 ClinVarVariant:53818 NM_000492.3(CFTR):c.3829delA (p.Ile1277Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2458 ClinVarVariant:10983 NM_001032383.1(PQBP1):c.547_569del23 (p.Glu183Glnfs) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2459 ClinVarVariant:53435 NM_000492.3(CFTR):c.2074G>T (p.Glu692Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2460 ClinVarVariant:15933 NM_001077488.3(GNAS):c.604C>T (p.Arg202Cys) 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 |
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|
2461 ClinVarVariant:29987 FMR1, SER27TER NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19429055|PMID:18297385|PMID:14994287|PMID:16176388|PMID:10972251 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2462 ClinVarVariant:1446 NM_000190.3(HMBS):c.500G>A (p.Arg167Gln) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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2463 dbSNP:rs12188164 rs12188164-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:21602797|PMID:10361400 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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2464 ClinVarVariant:10273 NM_000132.3(F8):c.5336G>A (p.Gly1779Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2465 MGI:3573914 Aaj4<A/J> 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2466 ClinVarVariant:54004 NM_000492.3(CFTR):c.574_576delGAT (p.Asp192del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2467 ClinVarVariant:602 NM_000277.1(PAH):c.776C>T (p.Ala259Val) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2468 ClinVarVariant:102694 NM_000277.1(PAH):c.473G>C (p.Arg158Pro) 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 |
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diff
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2469 ClinVarVariant:53898 NM_000492.3(CFTR):c.4139delC (p.Thr1380Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2470 ClinVarVariant:54024 NM_000492.3(CFTR):c.606G>A (p.Trp202Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2471 ClinVarVariant:159028 NM_015384.4(NIPBL):c.1086_1087delTT (p.Arg364Cysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2472 ClinVarVariant:53888 NM_000492.3(CFTR):c.40A>T (p.Lys14Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2473 ClinVarVariant:54014 NM_000492.3(CFTR):c.580-1G>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2474 ClinVarVariant:10091 F8, EX24-25DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2475 ClinVarVariant:612 NM_000277.1(PAH):c.1223G>A (p.Arg408Gln) 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 |
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2476 ClinVarVariant:53858 NM_000492.3(CFTR):c.3937C>A (p.Gln1313Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2477 ClinVarVariant:53848 NM_000492.3(CFTR):c.3908dupA (p.Asn1303Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2478 ClinVarVariant:622 NM_000277.1(PAH):c.3G>A (p.Met1Ile) 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 |
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2479 ClinVarVariant:54034 NM_000492.3(CFTR):c.648G>T (p.Trp216Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2480 ClinVarVariant:159038 NM_133433.3(NIPBL):c.1576C>T (p.Gln526Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2481 ClinVarVariant:54044 NM_000492.3(CFTR):c.713C>T (p.Ala238Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2482 ClinVarVariant:53193 NM_000492.3(CFTR):c.1117-30_1117-29delTA NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2483 ClinVarVariant:9248 PMS2, 6-BP DEL/11-BP INS, NT736 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2484 ClinVarVariant:53878 NM_000492.3(CFTR):c.4040_4041delGC (p.Ser1347Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2485 ClinVarVariant:53868 NM_000492.3(CFTR):c.3985G>C (p.Glu1329Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2486 ClinVarVariant:5776 NM_003919.2(SGCE):c.1114C>T (p.Arg372Ter) 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 |
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2487 ClinVarVariant:10293 NM_000132.3(F8):c.5719dupA (p.Ser1907Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2488 ClinVarVariant:126965 NM_017849.3(TMEM127):c.217G>C (p.Gly73Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2489 ClinVarVariant:211654 NM_133433.3(NIPBL):c.6249+2dup NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2490 MGI:3041625 Axtofd5<L1> HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:14990867 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2491 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 |
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2492 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 |
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2493 MGI:2182740 Nfatc2<tm1Glm> 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2494 ClinVarVariant:53953 NM_000492.3(CFTR):c.451C>A (p.Gln151Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2495 ClinVarVariant:53983 NM_000492.3(CFTR):c.509G>A (p.Arg170His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2496 ClinVarVariant:209046 NM_000492.3(CFTR):c.2423_2424dupAT (p.Ser809Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2497 ClinVarVariant:7188 NM_000492.3(CFTR):c.459_476del18 (p.Ala155_Ile160del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2498 ClinVarVariant:67056 NM_000218.2(KCNQ1):c.1793A>G (p.Lys598Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2499 ClinVarVariant:53913 NM_000492.3(CFTR):c.4190T>A (p.Val1397Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2500 ClinVarVariant:1579 NM_052910.2(SLITRK1):c.*689G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:8173824|PMID:1564054|PMID:8425124|PMID:23418216|PMID:20063404 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2501 ClinVarVariant:7178 NM_000492.3(CFTR):c.3767dupC (p.Leu1258Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2502 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 |
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2503 ClinVarVariant:7128 NM_000492.3(CFTR):c.2738A>G (p.Tyr913Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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|
2504 ClinVarVariant:10348 F8, EX23-24DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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|
2505 ClinVarVariant:53893 NM_000492.3(CFTR):c.4115C>T (p.Pro1372Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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2506 ClinVarVariant:53963 NM_000492.3(CFTR):c.480T>A (p.Ile160=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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2507 dbSNP:rs6738440 rs6738440-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21326311|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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2508 ClinVarVariant:17976 NM_001127701.1(SERPINA1):c.552delC (p.Tyr184Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19072562|PMID:18376109|PMID:9116423|PMID:3878661|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2509 ClinVarVariant:156510 NM_000535.5(PMS2):c.452G>A (p.Arg151His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2510 ClinVarVariant:53903 NM_000492.3(CFTR):c.4147dupA (p.Ile1383Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2511 ClinVarVariant:53943 NM_000492.3(CFTR):c.437A>G (p.His146Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2512 MGI:5448531 Arid3a<tm1b(KOMP)Wtsi> MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental evidence MGI:5576271 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/impc.ttl inferred |
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2513 ClinVarVariant:159103 NM_133433.3(NIPBL):c.3G>T (p.Met1Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2514 ClinVarVariant:53973 NM_000492.3(CFTR):c.490-116A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2515 MGI:3577248 Dp(11Cops3-Rnf112)1Jrl NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18469339 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2516 MGI:5312129 Xpa<tm1Gvh> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:22174697 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2517 ClinVarVariant:7148 NM_000492.3(CFTR):c.1817_1900del84 (p.Met607_Gln634del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2518 ClinVarVariant:53933 NM_000492.3(CFTR):c.4251delA (p.Glu1418Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2519 ClinVarVariant:7198 NM_000492.3(CFTR):c.1055G>A (p.Arg352Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2520 ClinVarVariant:212265 NM_001281463.1(SMC1A):c.1076_1078delAAG (p.Glu359del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2521 ClinVarVariant:53923 NM_000492.3(CFTR):c.4225G>A (p.Glu1409Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2522 ClinVarVariant:14205 CCL2, -2136A-T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12098612|PMID:3167473|PMID:22276472|PMID:2751944|PMID:2801829 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2523 ClinVarVariant:7138 NM_000492.3(CFTR):c.3717+4A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2524 ClinVarVariant:10308 NM_000132.3(F8):c.6278A>G (p.Asp2093Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2525 dbSNP:rs4671393 rs4671393-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:21326311|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2526 ClinVarVariant:10318 NM_000132.3(F8):c.6532C>T (p.Arg2178Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2527 ClinVarVariant:11672 SMC1A, 3-BP DEL, 2493CCA NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2528 MGI:3580560 Nsila1<C57BL/6J> 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2529 ClinVarVariant:10338 F8, EX4-10DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2530 ClinVarVariant:53563 NM_000492.3(CFTR):c.2763_2764dupAG (p.Val922Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2531 ClinVarVariant:7241 NM_003001.3(SDHC):c.3G>A (p.Met1Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2532 MGI:3580576 Nsila9<C57BL/6J> 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2533 ClinVarVariant:5096 CAPN10, IVS3, g.4841T-C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2534 ClinVarVariant:7201 NM_000492.3(CFTR):c.1654C>T (p.Gln552Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2535 ClinVarVariant:53583 NM_000492.3(CFTR):c.2875delG (p.Ala959Hisfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2536 ClinVarVariant:589 NM_000277.1(PAH):c.842C>T (p.Pro281Leu) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2537 ClinVarVariant:2415 NM_032409.2(PINK1):c.1366C>T (p.Gln456Ter) 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 |
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2538 ClinVarVariant:10328 NM_000132.3(F8):c.6794A>G (p.Gln2265Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2539 ClinVarVariant:91252 NM_000251.2(MSH2):c.943-1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2540 ClinVarVariant:53573 NM_000492.3(CFTR):c.2816A>G (p.His939Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2541 ClinVarVariant:579 NM_000277.1(PAH):c.977G>A (p.Trp326Ter) 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 |
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2542 ClinVarVariant:2405 NM_032409.2(PINK1):c.813C>A (p.His271Gln) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2543 MGI:3819793 Sox4<M91Ark> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16109771 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2544 ClinVarVariant:7221 NM_000492.3(CFTR):c.3161delA (p.His1054Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2545 ClinVarVariant:7231 NM_000492.3(CFTR):c.3744delA (p.Lys1250Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2546 ClinVarVariant:53553 NM_000492.3(CFTR):c.274-10C>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2547 MGI:3603303 Thra<tm3Ven> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16131613 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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diff
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2548 ClinVarVariant:89519 NM_000179.2(MSH6):c.426G>A (p.Trp142Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2549 ClinVarVariant:53593 NM_000492.3(CFTR):c.2909-1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2550 MGI:3033008 Axtofd3<C57BL/6J> HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:11454769 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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2551 ClinVarVariant:36768 NM_003000.2(SDHB):c.32G>A (p.Arg11His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2552 ClinVarVariant:53513 NM_000492.3(CFTR):c.2563G>A (p.Val855Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2553 ClinVarVariant:67894 NM_000335.4(SCN5A):c.4453T>C (p.Phe1485Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2554 ClinVarVariant:4295 NM_001005741.2(GBA):c.1504C>T (p.Arg502Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2555 dbSNP:rs1442407 rs1442407-T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:24058526|PMID:17938043|PMID:9491171|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2556 ClinVarVariant:120297 NM_000277.1(PAH):c.931_932delCT (p.Leu311Glyfs) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2557 ClinVarVariant:120277 NM_000277.1(PAH):c.504C>A (p.Tyr168Ter) 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 |
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2558 MGI:3605473 Npas3<tm1Ewb> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16190882 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2559 MGI:3822005 Vnhv1<DBA/2J> MP:0002797 increased thigmotaxis ECO:0000304 traceable author statement used in manual assertion PMID:18721828 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2560 ClinVarVariant:53543 NM_000492.3(CFTR):c.2684G>A (p.Ser895Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2561 ClinVarVariant:53503 NM_000492.3(CFTR):c.2502dupT (p.Asp835Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2562 ClinVarVariant:53523 NM_000492.3(CFTR):c.2602delG (p.Val868Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2563 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2564 ClinVarVariant:56263 NM_000086.2(CLN3):c.302T>C (p.Leu101Pro) NCBITaxon:9606 Homo sapiens 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 |
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2565 MGI:3653427 Htr2a<tm2Grch> 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 |
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2566 ClinVarVariant:120257 NM_000277.1(PAH):c.1004A>C (p.Lys335Thr) 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 |
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2567 ClinVarVariant:4690 VPS13A, 2-BP DUP, 3556AC 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 |
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2568 ClinVarVariant:120267 NM_000277.1(PAH):c.169-42T>A 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 |
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2569 ClinVarVariant:65756 NM_145239.2(PRRT2):c.510dupT (p.Leu171Serfs) 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 |
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2570 ClinVarVariant:90068 NM_000249.3(MLH1):c.2141G>A (p.Trp714Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2571 MGI:3717174 Tg(Eno2-APOE_i4)1Rabr NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15708438 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2572 ClinVarVariant:10571 NM_000133.3(F9):c.218A>T (p.Glu73Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2573 ClinVarVariant:53693 NM_000492.3(CFTR):c.3241G>C (p.Ala1081Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2574 ClinVarVariant:10088 NM_000132.3(F8):c.6403C>T (p.Arg2135Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2575 ClinVarVariant:609 NM_000277.1(PAH):c.662A>G (p.Glu221Gly) 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 |
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2576 ClinVarVariant:159941 NM_006306.3(SMC1A):c.1457A>G (p.Asp486Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2577 ClinVarVariant:159961 NM_006306.3(SMC1A):c.586C>T (p.Arg196Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2578 ClinVarVariant:53623 NM_000492.3(CFTR):c.3002_3003delTG (p.Val1001Aspfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2579 ClinVarVariant:10098 NM_000132.3(F8):c.6683G>A (p.Arg2228Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:9302853|PMID:10734657|PMID:15357786 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2580 ClinVarVariant:619 NM_000277.1(PAH):c.1162G>A (p.Val388Met) 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 |
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2581 ClinVarVariant:629 NM_000277.1(PAH):c.136G>A (p.Gly46Ser) 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 |
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2582 ClinVarVariant:10581 NM_000133.3(F9):c.479G>C (p.Gly160Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2583 ClinVarVariant:53613 NM_000492.3(CFTR):c.2989-1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2584 MGI:5638541 Camk2b<tm1.1Ics> 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2585 ClinVarVariant:10138 F8, EX5-6 DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2586 ClinVarVariant:31169 NM_145239.2(PRRT2):c.514_517delTCTG (p.Ser172Argfs) 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 |
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2587 ClinVarVariant:188812 NM_000520.4(HEXA):c.915_917delCTT (p.Phe305del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2588 ClinVarVariant:10128 NM_000132.3(F8):c.6404G>C (p.Arg2135Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2589 ClinVarVariant:53643 NM_000492.3(CFTR):c.3061C>T (p.Pro1021Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2590 ClinVarVariant:53653 NM_000492.3(CFTR):c.310delA (p.Arg104Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2591 ClinVarVariant:56293 NM_001042432.1(CLN3):c.954_962+18del27 NCBITaxon:9606 Homo sapiens 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 |
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2592 ClinVarVariant:48672 NM_000492.3(CFTR):c.223C>T (p.Arg75Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2593 MGI:4359177 Arx<tm4Kki> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19605412 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2594 ClinVarVariant:40998 NM_000132.2:c.*8899A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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|
2595 ClinVarVariant:56243 NM_000086.2(CLN3):c.1000C>T (p.Arg334Cys) NCBITaxon:9606 Homo sapiens 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 |
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2596 ClinVarVariant:56283 NM_000086.2(CLN3):c.569delG (p.Gly190Glufs) NCBITaxon:9606 Homo sapiens 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 |
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2597 ClinVarVariant:17091 MLH1, EX16DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2598 ClinVarVariant:10158 NM_000132.3(F8):c.199_200delAA (p.Lys67Aspfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2599 ClinVarVariant:17081 MLH1, 3.5-KB DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2600 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 |
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2601 ClinVarVariant:158657 NM_018486.2(HDAC8):c.-5G>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2602 MGI:1932102 Ercc6<tm1Gvh> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:22174697 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2603 ClinVarVariant:53663 NM_000492.3(CFTR):c.3140-649_3140-54del596 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2604 ClinVarVariant:10148 NM_000132.3(F8):c.5372T>C (p.Met1791Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2605 ClinVarVariant:68439 NM_001127221.1(CACNA1A):c.584G>A (p.Arg195Lys) 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 |
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2606 ClinVarVariant:10178 NM_000132.3(F8):c.554A>C (p.Lys185Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2607 ClinVarVariant:68429 NM_001127221.1(CACNA1A):c.4003A>G (p.Lys1335Glu) 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 |
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2608 ClinVarVariant:10168 NM_000132.3(F8):c.328A>G (p.Met110Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2609 ClinVarVariant:53713 NM_000492.3(CFTR):c.3304A>T (p.Arg1102Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2610 ClinVarVariant:10198 NM_000132.3(F8):c.943delG (p.Ala315Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2611 MGI:2178821 Kcnj11<tm1Sse> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16530794 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2612 MGI:1857129 Apoe<tm1Unc> RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:15304509|PMID:12220566 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct |
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2613 ClinVarVariant:53723 NM_000492.3(CFTR):c.3364delA (p.Thr1122Glnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2614 ClinVarVariant:161996 NM_000492.3(CFTR):c.3963+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2615 ClinVarVariant:53703 NM_000492.3(CFTR):c.3281_3367+268del355insTGTTAA NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2616 ClinVarVariant:198162 NM_003919.2(SGCE):c.771_772delAT (p.Cys258Terfs) 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 |
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2617 MGI:3604536 Cer1<tm1Dgen> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence MGI:3604450 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2618 ClinVarVariant:10108 F8, 2-BP DEL, EX8 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2619 ClinVarVariant:10188 NM_000132.3(F8):c.849delT (p.Glu284Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2620 MGI:5646423 Tm47 NCBITaxon:10090 Mus musculus MGI:5646423 Tm47 MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2621 ClinVarVariant:4315 NM_001005741.2(GBA):c.763T>G (p.Phe255Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2622 MGI:3663166 Slc6a4<tm1(cre)Grch> HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:16873667 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2623 MGI:3808349 Nhlrc1<tm1(KOMP)Vlcg> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21882344 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2624 ClinVarVariant:4305 NM_001005741.2(GBA):c.983C>T (p.Pro328Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2625 ClinVarVariant:67954 NM_000335.4(SCN5A):c.5111T>C (p.Phe1704Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2626 ClinVarVariant:10118 NM_000132.3(F8):c.5878C>T (p.Arg1960Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2627 ClinVarVariant:7151 NM_000492.3(CFTR):c.1572C>A (p.Cys524Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2628 ClinVarVariant:7141 NM_000492.3(CFTR):c.2551C>T (p.Arg851Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2629 ClinVarVariant:7191 CFTR, GLN524HIS NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2630 ClinVarVariant:3919 NM_000520.4(HEXA):c.540C>G (p.Tyr180Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2631 ClinVarVariant:10351 NM_000132.3(F8):c.592T>G (p.Cys198Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2632 ClinVarVariant:3929 NM_000520.4(HEXA):c.632T>C (p.Phe211Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2633 ClinVarVariant:12778 NM_003000.2(SDHB):c.268C>T (p.Arg90Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:19569019|PMID:1576030|PMID:17474956|PMID:14605591|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2634 ClinVarVariant:7161 NM_000492.3(CFTR):c.3184_3188dupCTATG (p.Trp1063Cysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2635 ClinVarVariant:10341 F8, EX14-21DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2636 ClinVarVariant:12788 NM_003000.2(SDHB):c.299C>T (p.Ser100Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2637 ClinVarVariant:35857 NM_000492.3(CFTR):c.2988G>A (p.Gln996=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2638 ClinVarVariant:35867 NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2639 ClinVarVariant:39714 NM_018486.2(HDAC8):c.1001A>G (p.His334Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2640 ClinVarVariant:35877 NM_000492.3(CFTR):c.380_382dupTAT (p.Leu127_Cys128insLeu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2641 ClinVarVariant:211629 NM_133433.3(NIPBL):c.286_287insG (p.Leu96Cysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2642 ClinVarVariant:180203 NM_005641.3(TAF6):c.136C>T (p.Arg46Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2643 ClinVarVariant:92043 NM_018486.2(HDAC8):c.356C>T (p.Thr119Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2644 MGI:5313432 Vamp7<tm1.1Ics> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22323709 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2645 ClinVarVariant:35847 NM_000492.3(CFTR):c.2762G>A (p.Gly921Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2646 ClinVarVariant:35827 NM_000492.3(CFTR):c.1584+12T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2647 ClinVarVariant:35837 NM_000492.3(CFTR):c.2051_2052delAAinsG (p.Lys684Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2648 ClinVarVariant:7181 NM_000492.3(CFTR):c.274G>A (p.Glu92Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2649 ClinVarVariant:35817 NM_000492.3(CFTR):c.114C>G (p.Tyr38Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2650 ClinVarVariant:211639 NM_133433.3(NIPBL):c.458+1_458+2dup NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2651 ClinVarVariant:35887 NM_000492.3(CFTR):c.592G>A (p.Ala198Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2652 dbSNP:rs7606173 rs7606173-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:21326311|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2653 ClinVarVariant:211649 NM_015384.4(NIPBL):c.5739_5740delCT (p.Trp1914Valfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2654 ClinVarVariant:180193 NM_015384.4(NIPBL):c.4321G>T (p.Val1441Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2655 ClinVarVariant:1474 NM_000190.3(HMBS):c.766C>A (p.His256Asn) 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 |
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2656 ClinVarVariant:53413 NM_000492.3(CFTR):c.1909C>T (p.Gln637Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2657 ClinVarVariant:6915 NM_003002.3(SDHD):c.33C>A (p.Cys11Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2658 MGI:3802585 Crem<tm1.1Endo> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18562617 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2659 ClinVarVariant:1454 NM_000190.3(HMBS):c.91G>A (p.Ala31Thr) 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 |
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2660 ClinVarVariant:13589 NM_006208.2(ENPP1):c.517A>C (p.Lys173Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2661 ClinVarVariant:12915 NM_152296.4(ATP1A3):c.2767G>A (p.Asp923Asn) 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 |
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2662 ClinVarVariant:53443 NM_000492.3(CFTR):c.2145_2146delAAinsGT (p.Lys716Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2663 ClinVarVariant:1464 NM_000190.3(HMBS):c.331G>A (p.Gly111Arg) 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 |
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2664 MGI:1934018 Naglu<tm1Efn> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10588735 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2665 ClinVarVariant:6905 NM_003002.3(SDHD):c.277_279delTAT (p.Tyr93del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2666 ClinVarVariant:53403 NM_000492.3(CFTR):c.1841A>G (p.Asp614Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2667 ClinVarVariant:9971 FMR1, IVS2AS1, G-T, -1 AND G-A, +1 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19429055|PMID:18297385|PMID:14994287|PMID:16176388|PMID:10972251 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2668 ClinVarVariant:193593 NM_000492.3(CFTR):c.1365G>T (p.Ala455=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2669 MGI:2386303 Slc6a3<tm1Mca> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:12617953 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2670 ClinVarVariant:36688 NM_000535.5(PMS2):c.2253T>C (p.Phe751=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2671 ClinVarVariant:136209 NM_017849.3(TMEM127):c.268G>A (p.Val90Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2672 ClinVarVariant:53453 NM_000492.3(CFTR):c.2204G>A (p.Arg735Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2673 MGI:1861926 Gabrd<tm1Geh> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18667149 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2674 ClinVarVariant:53423 NM_000492.3(CFTR):c.1A>G (p.Met1Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2675 ClinVarVariant:7063 NC_000001.10:g.(8018845_8022846)_(8037799_8044954)del 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 |
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2676 ClinVarVariant:38833 NM_000492.3(CFTR):c.366T>A (p.Tyr122Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2677 ClinVarVariant:159228 NM_015384.4(NIPBL):c.7348_7350delATG (p.Met2450del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2678 ClinVarVariant:3889 NM_000520.4(HEXA):c.1274_1277dupTATC (p.Tyr427Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2679 dbSNP:rs7045640 rs7045640-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:24058526|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2680 MGI:2387415 Hrh3<tm1Twl> HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:12130692 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2681 ClinVarVariant:10666 NM_000133.3(F9):c.755G>C (p.Cys252Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2682 ClinVarVariant:10656 NM_000133.3(F9):c.31T>A (p.Ser11Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2683 MGI:3717228 Tg(Thy1-MAPT)22Schd NCBITaxon:10090 Mus musculus NCBIGene:4137 microtubule associated protein tau MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16877359 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2684 ClinVarVariant:10616 NM_000133.3(F9):c.1180A>G (p.Met394Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2685 ClinVarVariant:53778 NM_000492.3(CFTR):c.3607A>G (p.Ile1203Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2686 ClinVarVariant:179404 NM_000492.3(CFTR):c.4129G>A (p.Asp1377Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2687 ClinVarVariant:16215 GABRA1, 1-BP DEL, 975C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21703932|PMID:11319492|PMID:19453714|PMID:21683658|PMID:21041102 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2688 ClinVarVariant:10606 NM_000133.3(F9):c.1009G>C (p.Ala337Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2689 ClinVarVariant:53768 NM_000492.3(CFTR):c.3535_3538delACCA (p.Thr1179Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2690 ClinVarVariant:211662 NM_015384.4(NIPBL):c.7841_7842dupTA (p.Val2615Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2691 ClinVarVariant:53738 NM_000492.3(CFTR):c.3419T>A (p.Met1140Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2692 ClinVarVariant:53728 NM_000492.3(CFTR):c.3371_3373delAAG (p.Glu1124del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2693 MGI:2179062 Tg(Camk2a-tTA)1Mmay NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006|ECO:0000006 experimental evidence|experimental evidence|experimental evidence PMID:22084082|PMID:19420255|PMID:24503275 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2694 ClinVarVariant:99926 NM_015384.4(NIPBL):c.3445C>T (p.Arg1149Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2695 ClinVarVariant:17106 NM_000249.3(MLH1):c.200G>A (p.Gly67Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2696 ClinVarVariant:592 NM_000277.1(PAH):c.1238G>C (p.Arg413Pro) 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 |
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2697 MGI:2176172 Tg(Nes-cre)1Kln NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23499007 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2698 MGI:1857026 Foxq1<sa> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16109771 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2699 ClinVarVariant:99936 NM_015384.4(NIPBL):c.6631G>T (p.Glu2211Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2700 ClinVarVariant:102604 NM_000277.1(PAH):c.168+1G>A 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 |
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2701 ClinVarVariant:53748 NM_000492.3(CFTR):c.3460G>T (p.Asp1154Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2702 ClinVarVariant:53758 NM_000492.3(CFTR):c.3481A>C (p.Ser1161Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2703 MGI:5299329 Tdo2<tm1Tnak> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19323847 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2704 ClinVarVariant:13406 NM_000311.3(PRNP):c.695T>G (p.Met232Arg) NCBITaxon:9606 Homo sapiens 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 |
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2705 ClinVarVariant:35890 NM_000492.3(CFTR):c.825C>G (p.Tyr275Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2706 ClinVarVariant:211642 NM_015384.4(NIPBL):c.4893dupA (p.Gly1632Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2707 ClinVarVariant:53718 NM_000492.3(CFTR):c.331C>G (p.Pro111Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2708 ClinVarVariant:35880 NM_000492.3(CFTR):c.3997G>T (p.Gly1333Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2709 ClinVarVariant:211632 NM_015384.4(NIPBL):c.3264delC (p.Ser1089Valfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2710 ClinVarVariant:53708 NM_000492.3(CFTR):c.3293G>A (p.Trp1098Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2711 ClinVarVariant:10626 F9, EX4INS NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2712 ClinVarVariant:53788 NM_000492.3(CFTR):c.3713A>G (p.Gln1238Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2713 MGI:5437479 Shank2<tm1Mgle> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22699620 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2714 ClinVarVariant:35830 NM_000492.3(CFTR):c.1684G>A (p.Val562Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2715 ClinVarVariant:11569 NM_002578.3(PAK3):c.199C>T (p.Arg67Cys) NCBITaxon:9606 Homo sapiens HP:0000739 Anxiety ECO:0000269 experimental evidence used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2716 ClinVarVariant:53381 NM_000492.3(CFTR):c.1766+73T>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2717 ClinVarVariant:93457 NM_001005741.2(GBA):c.667T>C (p.Trp223Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2718 ClinVarVariant:67109 NM_000218.2(KCNQ1):c.820A>G (p.Ile274Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2719 ClinVarVariant:53321 NM_000492.3(CFTR):c.1656delA (p.Gln552Hisfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2720 ClinVarVariant:53311 NM_000492.3(CFTR):c.1648G>A (p.Gly550Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2721 ClinVarVariant:36546 NM_000249.3(MLH1):c.1959G>T (p.Leu653=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2722 ClinVarVariant:102872 NM_000277.1(PAH):c.842+5G>A 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 |
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diff
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2723 ClinVarVariant:53331 NM_000492.3(CFTR):c.1679+1643G>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2724 MGI:3618114 H2-K<bm1> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10386391 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2725 ClinVarVariant:36566 NM_000251.2(MSH2):c.1511-9A>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2726 MGI:3711215 Fmr1<tm1Usdn> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21220020 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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diff
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2727 ClinVarVariant:159236 NM_133433.3(NIPBL):c.772-1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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parents:
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2728 MGI:5562642 Cpeb3<tm1.2Yshu> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24155305 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2729 ClinVarVariant:159246 NM_133433.3(NIPBL):c.8336C>T (p.Thr2779Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2730 ClinVarVariant:53361 NM_000492.3(CFTR):c.172G>A (p.Asp58Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2731 ClinVarVariant:8980 NM_001079668.2(NKX2-1):c.745C>T (p.Gln249Ter) 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 |
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2732 MGI:3580577 Nsila10<A/J> 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 |
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2733 ClinVarVariant:53351 NM_000492.3(CFTR):c.1705T>C (p.Tyr569His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2734 ClinVarVariant:159216 NM_015384.4(NIPBL):c.7011_7012delGG (p.Lys2337Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2735 ClinVarVariant:102439 TTC19, 4-BP DEL, 964GGCT 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 |
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2736 ClinVarVariant:159226 NM_133433.3(NIPBL):c.7306G>A (p.Ala2436Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2737 ClinVarVariant:159206 NM_015384.4(NIPBL):c.6648_6649delTA (p.Tyr2216Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2738 MGI:3043293 Mapt<tm1(Mecp2)Jae> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22378884 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2739 ClinVarVariant:12781 NM_003000.2(SDHB):c.725G>A (p.Arg242His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:19569019|PMID:1576030|PMID:17474956|PMID:14605591|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2740 ClinVarVariant:211622 NM_015384.4(NIPBL):c.1448_1449delAAinsCTCCCTT (p.Glu483Alafs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2741 ClinVarVariant:35870 NM_000492.3(CFTR):c.355A>G (p.Ile119Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2742 ClinVarVariant:35860 NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2743 MGI:3575505 Ehmt1<tm1Yshk> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19896504 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2744 ClinVarVariant:35850 NM_000492.3(CFTR):c.2813T>G (p.Val938Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2745 ClinVarVariant:17086 MLH1, 1-BP DEL, 1784T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2746 ClinVarVariant:8267 NM_001123041.2(CCR2):c.190G>A (p.Val64Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12098612|PMID:3167473|PMID:22276472|PMID:2751944|PMID:2801829 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2747 ClinVarVariant:35840 NM_000492.3(CFTR):c.2374C>G (p.Arg792Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2748 ClinVarVariant:41632 NM_000249.3(MLH1):c.1151T>A (p.Val384Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2749 ClinVarVariant:159148 NM_015384.4(NIPBL):c.5389_5392delTCTG (p.Ser1797Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2750 MGI:3800596 Mecp2<tm1Pplt> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16467389 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2751 ClinVarVariant:12675 NM_002734.4(PRKAR1A):c.709-7_709-2delTTTTTA 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 |
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2752 ClinVarVariant:29655 MLH1, 11.6-KB DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2753 MGI:5495816 Ddc<tm1.1Nwlh> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23275025 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2754 ClinVarVariant:38493 NM_000492.3(CFTR):c.2052delA (p.Lys684Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2755 ClinVarVariant:14790 NM_000875.4(IGF1R):c.413G>A (p.Arg138Gln) NCBITaxon:9606 Homo sapiens 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 |
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2756 ClinVarVariant:5559 NM_001040108.1(MLH3):c.1496A>G (p.Asn499Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2757 MGI:3505718 Tg(Eno2CDK5R1)1Jdm NCBITaxon:10090 Mus musculus NCBIGene:8851 cyclin-dependent kinase 5, regulatory subunit 1 (p35) MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:10706614 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2758 ClinVarVariant:126971 NM_017849.3(TMEM127):c.419G>A (p.Cys140Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2759 MGI:3809545 Tg(RCAN1)M9Mapr NCBITaxon:10090 Mus musculus NCBIGene:1827 RCAN1 MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22511596 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2760 ClinVarVariant:209109 NC_000023.10:g.71681853_72434328del752476 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2761 MGI:2176236 Idua<tm1Clk> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18022143 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2762 ClinVarVariant:126961 NM_017849.3(TMEM127):c.-18C>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2763 MGI:5435698 Shank2<tm1.1Tmb> 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 |
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2764 MGI:2180180 Araf<tm1Mmc> HP:0000739 Anxiety ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:8805280|PMID:8805280 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2765 ClinVarVariant:90964 NM_000251.2(MSH2):c.23C>T (p.Thr8Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2766 ClinVarVariant:180191 NM_015384.4(NIPBL):c.1801delA (p.Lys603Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2767 ClinVarVariant:6903 NM_003002.3(SDHD):c.64C>T (p.Arg22Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:19569019|PMID:1576030|PMID:17474956|PMID:14605591|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
changeset
|
2768 ClinVarVariant:53401 NM_000492.3(CFTR):c.1837G>A (p.Ala613Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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parents:
diff
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2769 ClinVarVariant:6913 NM_003002.3(SDHD):c.129G>A (p.Trp43Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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parents:
diff
changeset
|
2770 MGI:3773673 Snord116<tm1.1Uta> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence MGI:3774147 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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diff
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|
2771 ClinVarVariant:1472 NM_000190.3(HMBS):c.754G>A (p.Ala252Thr) 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 |
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diff
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|
2772 ClinVarVariant:53916 NM_000492.3(CFTR):c.419C>T (p.Pro140Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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parents:
diff
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|
2773 MGI:5469866 Syngap1<tm2Geno> 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2774 ClinVarVariant:53261 NM_000492.3(CFTR):c.1471T>C (p.Cys491Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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parents:
diff
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2775 ClinVarVariant:53926 NM_000492.3(CFTR):c.4234C>T (p.Gln1412Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2776 ClinVarVariant:53271 NM_000492.3(CFTR):c.1505T>A (p.Ile502Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2777 MGI:2387407 Htr1a<tm1Rhn> 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 |
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2778 ClinVarVariant:141421 NM_173851.2(SLC30A8):c.412C>T (p.Arg138Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2779 ClinVarVariant:53291 NM_000492.3(CFTR):c.1585-9T>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2780 ClinVarVariant:53936 NM_000492.3:c.4268+2T>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2781 ClinVarVariant:53281 NM_000492.3(CFTR):c.1546A>G (p.Arg516Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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parents:
diff
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2782 ClinVarVariant:53946 NM_000492.3(CFTR):c.4417G>T (p.Glu1473Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2783 ClinVarVariant:53956 NM_000492.3(CFTR):c.455T>G (p.Met152Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2784 ClinVarVariant:53966 NM_000492.3(CFTR):c.482A>C (p.Tyr161Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2785 ClinVarVariant:53201 NM_000492.3(CFTR):c.1148T>C (p.Leu383Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2786 ClinVarVariant:53211 NM_000492.3(CFTR):c.11C>A (p.Ser4Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2787 ClinVarVariant:11675 NM_006306.3(SMC1A):c.1487G>A (p.Arg496His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2788 ClinVarVariant:188766 NM_000277.1(PAH):c.664_665delGA (p.Asp222Terfs) 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 |
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2789 ClinVarVariant:53221 NM_000492.3(CFTR):c.1235delC (p.Ala412Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2790 ClinVarVariant:161155 NM_152296.4(ATP1A3):c.1109C>A (p.Thr370Asn) 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 |
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2791 ClinVarVariant:53421 NM_000492.3(CFTR):c.1986_1989delAACT (p.Thr663Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2792 NCBIGene:1714 DGCR NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20410726|PMID:15877762|PMID:22526976|PMID:22832905|PMID:21215459 http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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2793 ClinVarVariant:1452 HMBS, 9-BP DEL, EX10 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 |
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2794 ClinVarVariant:159116 NM_133433.3(NIPBL):c.4439T>G (p.Met1480Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2795 ClinVarVariant:53986 NM_000492.3(CFTR):c.523A>G (p.Ile175Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2796 ClinVarVariant:209049 NM_000492.3(CFTR):c.(53+1_54-1)_(164+1_165-1)del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2797 ClinVarVariant:159106 NM_015384.4(NIPBL):c.4098_4101delAAGT (p.Leu1366Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2798 ClinVarVariant:53976 NM_000492.3(CFTR):c.494T>C (p.Leu165Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2799 MGI:2389228 Bace1<tm1Pcw> 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 |
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2800 ClinVarVariant:53231 NM_000492.3(CFTR):c.1330_1331delAT (p.Ile444Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2801 MGI:2158714 Chrnb2<tm1Mdb> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:15541879 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2802 ClinVarVariant:53241 NM_000492.3(CFTR):c.1393-18G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2803 ClinVarVariant:5419 NM_005456.3(MAPK8IP1):c.176G>A (p.Ser59Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2804 ClinVarVariant:17969 NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19072562|PMID:18376109|PMID:9116423|PMID:3878661|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2805 ClinVarVariant:53251 NM_000492.3(CFTR):c.1418delG (p.Gly473Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2806 ClinVarVariant:156503 NM_000251.2(MSH2):c.1030C>A (p.Gln344Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2807 MGI:2152217 Esr2<tm1Unc> RO:0002200 has phenotype MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15642619|PMID:9861029|PMID:8248223 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct |
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2808 ClinVarVariant:53906 NM_000492.3(CFTR):c.415_416insGA (p.His139Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2809 MGI:3835413 Gtf2ird1<tm1Lro> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:17680805 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2810 ClinVarVariant:159156 NM_133433.3(NIPBL):c.5709+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2811 MGI:5307897 Npy1r<tm1.1Ceva> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22084082 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2812 ClinVarVariant:53301 NM_000492.3(CFTR):c.1635_1640delAATCAC (p.Ile546_Thr547del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2813 MGI:2388945 Ctns<tm1Antc> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:12370309 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2814 ClinVarVariant:53996 NM_000492.3(CFTR):c.543_546delTAGT (p.Leu183Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2815 ClinVarVariant:209059 NM_000492.3(CFTR):c.1117-1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2816 ClinVarVariant:159126 NM_015384.4(NIPBL):c.4684_4687delTTTG (p.Phe1562Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2817 MGI:3857785 Epm2aip1<Gt(BA0314)Wtsi> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24142699 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2818 dbSNP:rs11968814 rs11968814-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:21326311|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2819 ClinVarVariant:159196 NM_133433.3(NIPBL):c.65-5A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2820 ClinVarVariant:8487 NM_001127221.1(CACNA1A):c.575G>A (p.Arg192Gln) 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 |
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2821 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:20005824|PMID:17953618|PMID:20005824 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2822 ClinVarVariant:53816 NM_000492.3(CFTR):c.3816_3817delGT (p.Ser1273Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2823 ClinVarVariant:53161 NM_000492.3(CFTR):c.1006_1007insG (p.Ile336Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2824 ClinVarVariant:6663 NM_003264.3(TLR2):c.2029C>T (p.Arg677Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7861049|PMID:6668935|PMID:6819753|PMID:7278143|PMID:1784156 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2825 ClinVarVariant:53806 NM_000492.3(CFTR):c.3764C>T (p.Ser1255Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2826 ClinVarVariant:53846 NM_000492.3(CFTR):c.3908A>T (p.Asn1303Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2827 ClinVarVariant:159186 NM_015384.4(NIPBL):c.6317_6320delTGTG (p.Val2106Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2828 MGI:5475110 Cers1<tm1.1Kwi> HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:23074226 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2829 ClinVarVariant:53171 NM_000492.3(CFTR):c.1037T>C (p.Leu346Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2830 ClinVarVariant:53836 NM_000492.3(CFTR):c.387delT (p.Leu130Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2831 ClinVarVariant:53856 NM_000492.3(CFTR):c.3929G>A (p.Trp1310Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2832 MGI:5646419 Mbt2 NCBITaxon:10090 Mus musculus MGI:5646419 Mbt2 MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2833 ClinVarVariant:53181 NM_000492.3(CFTR):c.1076A>G (p.Gln359Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2834 ClinVarVariant:53826 NM_000492.3(CFTR):c.3871C>T (p.Gln1291Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2835 ClinVarVariant:102832 NM_000277.1(PAH):c.782G>C (p.Arg261Pro) 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 |
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2836 ClinVarVariant:65570 NM_001005741.2(GBA):c.475C>T (p.Arg159Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2837 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 |
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2838 ClinVarVariant:36691 NM_000535.5(PMS2):c.2570G>C (p.Gly857Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2839 ClinVarVariant:10586 F9, IVS7AS, G-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2840 ClinVarVariant:53678 NM_000492.3(CFTR):c.3197G>T (p.Arg1066Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2841 ClinVarVariant:10566 F9, GLU7ASP NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2842 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 |
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2843 ClinVarVariant:1757 NM_000251.2(MSH2):c.1786_1788delAAT (p.Asn596del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2844 ClinVarVariant:10596 NM_000133.3(F9):c.710A>T (p.Gln237Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2845 ClinVarVariant:3942 NM_000520.4(HEXA):c.1351C>G (p.Leu451Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2846 ClinVarVariant:159956 NM_006306.3(SMC1A):c.3254A>G (p.Tyr1085Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2847 ClinVarVariant:53618 NM_000492.3(CFTR):c.2997_3000delAATT (p.Ile1000Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2848 ClinVarVariant:159946 NM_006306.3(SMC1A):c.2078G>A (p.Arg693Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2849 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 |
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2850 ClinVarVariant:192222 NM_000179.2(MSH6):c.4072A>G (p.Lys1358Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2851 ClinVarVariant:53688 NM_000492.3(CFTR):c.3222T>A (p.Phe1074Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2852 ClinVarVariant:53698 NM_000492.3(CFTR):c.3263dupA (p.Asn1088Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2853 ClinVarVariant:10576 NM_000133.3(F9):c.278A>G (p.Asp93Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2854 ClinVarVariant:53638 NM_000492.3(CFTR):c.3041A>G (p.Tyr1014Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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2855 ClinVarVariant:159976 NM_005445.3(SMC3):c.2338G>C (p.Glu780Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2856 ClinVarVariant:91317 NM_000535.5(PMS2):c.1831dupA (p.Ile611Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2857 ClinVarVariant:53628 NM_000492.3(CFTR):c.3021delT (p.Val1008Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2858 ClinVarVariant:159966 NM_005445.3(SMC3):c.1280A>G (p.Lys427Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2859 MGI:3612429 Tg(Gria2*586N)238.2Rsp NCBITaxon:10090 Mus musculus MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15827116 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2860 ClinVarVariant:53668 NM_000492.3(CFTR):c.3169A>G (p.Thr1057Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2861 ClinVarVariant:53648 NM_000492.3(CFTR):c.3084G>T (p.Met1028Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2862 ClinVarVariant:91327 NM_000535.5(PMS2):c.2007-4G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2863 ClinVarVariant:4685 NM_033305.2(VPS13A):c.622C>T (p.Arg208Ter) 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 |
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2864 ClinVarVariant:159241 NM_133433.3(NIPBL):c.8165_8183del19 (p.Pro2722Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2865 ClinVarVariant:159231 NM_015384.4(NIPBL):c.7542_7547delTTCAGA (p.Asp2514_Ser2515del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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parents:
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2866 MGI:2447591 Tg(APP)8.9Btla NCBITaxon:10090 Mus musculus NCBIGene:351 APP MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:15016076 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2867 ClinVarVariant:3892 NM_000520.4(HEXA):c.1444G>A (p.Glu482Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2868 ClinVarVariant:56258 NM_000086.2(CLN3):c.214C>T (p.Gln72Ter) NCBITaxon:9606 Homo sapiens 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 |
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2869 ClinVarVariant:93452 NM_001005741.2(GBA):c.487delG (p.Ala163Profs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2870 ClinVarVariant:56268 NM_000086.2(CLN3):c.400T>C (p.Cys134Arg) NCBITaxon:9606 Homo sapiens 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 |
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2871 ClinVarVariant:53538 NM_000492.3(CFTR):c.2658-107G>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2872 ClinVarVariant:53548 NM_000492.3(CFTR):c.2723C>A (p.Thr908Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2873 dbSNP:rs3105491 rs3105491-T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:24058526|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2874 ClinVarVariant:56248 NM_000086.2(CLN3):c.1056G>C (p.Gln352His) NCBITaxon:9606 Homo sapiens 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 |
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2875 ClinVarVariant:36581 NM_000179.2(MSH6):c.116G>A (p.Gly39Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2876 ClinVarVariant:159251 NM_133433.3(NIPBL):c.892C>T (p.Gln298Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2877 MGI:1857443 L1cam<tm1Sor> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:9580664 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2878 ClinVarVariant:36571 NM_000251.2(MSH2):c.2006-6T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2879 MGI:3580566 Nsila4<C57BL/6J> 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 |
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2880 ClinVarVariant:56278 NM_000086.2(CLN3):c.533+1G>A NCBITaxon:9606 Homo sapiens 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 |
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2881 ClinVarVariant:56288 NM_000086.2(CLN3):c.631C>T (p.Gln211Ter) NCBITaxon:9606 Homo sapiens 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 |
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2882 ClinVarVariant:12641 NM_000458.3(HNF1B):c.1395C>G (p.Ser465Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2883 ClinVarVariant:5564 NM_001040108.1(MLH3):c.3826T>C (p.Trp1276Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2884 ClinVarVariant:159806 NM_006265.2(RAD21):c.1617A>G (p.Glu539=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2885 ClinVarVariant:159161 NM_133433.3(NIPBL):c.5808+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2886 MGI:4438917 Srr<tm1.2Jtc> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:19065142 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2887 ClinVarVariant:161250 NM_000190.3(HMBS):c.962G>A (p.Arg321His) 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 |
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2888 MGI:4950685 Dync1li1<m1Emcf> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21471385 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2889 ClinVarVariant:7226 NM_000492.3(CFTR):c.-102A= NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2890 MGI:3573910 Aaj2<A/J> 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 |
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2891 ClinVarVariant:36541 NM_000249.3(MLH1):c.1558+14G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2892 ClinVarVariant:89352 NM_000179.2(MSH6):c.3202C>T (p.Arg1068Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2893 ClinVarVariant:53588 NM_000492.3(CFTR):c.2908+2T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2894 ClinVarVariant:7206 NM_000492.3(CFTR):c.805_806delAT (p.Ile269Profs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2895 ClinVarVariant:7216 NM_000492.3(CFTR):c.3746G>A (p.Gly1249Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2896 ClinVarVariant:7236 NM_000492.3(CFTR):c.860dupA (p.Asn287Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2897 MGI:1857169 Fmr1<tm1Cgr> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19016890 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2898 ClinVarVariant:159181 NM_133433.3(NIPBL):c.6242G>T (p.Gly2081Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2899 ClinVarVariant:159171 NM_133433.3(NIPBL):c.6071C>A (p.Ala2024Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2900 ClinVarVariant:41472 NM_003265.2(TLR3):c.1234C>T (p.Leu412Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12098612|PMID:3167473|PMID:22276472|PMID:2751944|PMID:2801829 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2901 MGI:2182618 Hdc<tm1Nagy> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16412995|PMID:16310870 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2902 ClinVarVariant:53518 NM_000492.3(CFTR):c.2596T>C (p.Cys866Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2903 ClinVarVariant:159191 NM_133433.3(NIPBL):c.64+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2904 ClinVarVariant:53508 NM_000492.3(CFTR):c.2537G>A (p.Trp846Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2905 ClinVarVariant:159151 NM_133433.3(NIPBL):c.5464G>T (p.Asp1822Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2906 ClinVarVariant:162091 NM_183357.2(ADCY5):c.2176G>A (p.Ala726Thr) 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 |
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2907 ClinVarVariant:159141 NM_133433.3(NIPBL):c.5328+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2908 MGI:4421144 Atf7<tm1Sis> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19893493 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2909 ClinVarVariant:53971 NM_000492.3(CFTR):c.489+3A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2910 ClinVarVariant:188771 NM_000277.1(PAH):c.168_168+1delGGinsAA 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 |
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2911 ClinVarVariant:53961 NM_000492.3(CFTR):c.476T>A (p.Leu159Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2912 ClinVarVariant:159131 NM_015384.4(NIPBL):c.4818_4819delAG (p.Arg1606Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2913 ClinVarVariant:209064 NM_000492.3(CFTR):c.(1584+1_1585-1)_(1679+1_1680-1)del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2914 MGI:5308748 Bhv31 NCBITaxon:10090 Mus musculus MGI:5308748 Bhv31 MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2915 ClinVarVariant:159121 NM_133433.3(NIPBL):c.4593T>G (p.Tyr1531Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2916 ClinVarVariant:209054 NM_000492.3(CFTR):c.3899dupT (p.Arg1301Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2917 ClinVarVariant:53991 NM_000492.3(CFTR):c.531delT (p.Ile177Metfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2918 ClinVarVariant:159111 NM_015384.4(NIPBL):c.4275_4287delAAATGTCAGTGAA (p.Glu1425Aspfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2919 ClinVarVariant:209044 NM_000492.3(CFTR):c.2462_2463delGT (p.Ser821Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2920 ClinVarVariant:159101 NM_133433.3(NIPBL):c.3868G>A (p.Glu1290Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2921 ClinVarVariant:53981 NM_000492.3(CFTR):c.4_53+69del119ins299 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2922 ClinVarVariant:7136 NM_000492.3(CFTR):c.3909C>G (p.Asn1303Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2923 ClinVarVariant:7146 NM_000492.3(CFTR):c.424delA (p.Ile142Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2924 ClinVarVariant:53951 NM_000492.3(CFTR):c.445G>A (p.Gly149Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2925 ClinVarVariant:53941 NM_000492.3(CFTR):c.4333G>A (p.Asp1445Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2926 ClinVarVariant:212273 NM_005445.3(SMC3):c.859_861dupGAA (p.Glu287_Lys288insGlu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2927 ClinVarVariant:36481 NM_002335.3(LRP5):c.4000+9C>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:75706|PMID:21525520|PMID:16137956|PMID:12099988|PMID:21847749 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2928 ClinVarVariant:7166 NM_000492.3(CFTR):c.3717+12191C>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2929 ClinVarVariant:53901 NM_000492.3(CFTR):c.4143C>A (p.Tyr1381Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2930 ClinVarVariant:10346 F8, EX16DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2931 ClinVarVariant:67054 NM_000218.2(KCNQ1):c.1750G>A (p.Gly584Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2932 ClinVarVariant:12501 NM_001024847.2(TGFBR2):c.1676_1677dupTG (p.Ala560Trpfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2933 MGI:2449464 Ntan1<tm1Avar> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10805755 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2934 ClinVarVariant:208182 NM_000277.1(PAH):c.895T>C (p.Phe299Leu) 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 |
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2935 ClinVarVariant:12511 NM_003242.5(TGFBR2):c.1583G>A (p.Arg528His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2936 ClinVarVariant:53931 NM_000492.3(CFTR):c.4243-1G>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2937 ClinVarVariant:7196 NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2938 ClinVarVariant:17974 NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19072562|PMID:18376109|PMID:9116423|PMID:3878661|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2939 ClinVarVariant:53911 NM_000492.3(CFTR):c.4170delA (p.Ala1391Hisfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2940 ClinVarVariant:7176 NM_000492.3(CFTR):c.3712C>T (p.Gln1238Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2941 ClinVarVariant:10326 NM_000132.3(F8):c.6699delG (p.Arg2234Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2942 ClinVarVariant:53488 NM_000492.3(CFTR):c.2428A>G (p.Arg810Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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parents:
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2943 ClinVarVariant:7116 NM_000492.3(CFTR):c.1646G>A (p.Ser549Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2944 ClinVarVariant:10336 F8, EX2-4DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2945 ClinVarVariant:53498 NM_000492.3(CFTR):c.2491-11C>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2946 ClinVarVariant:10306 F8, TRP2046ARG NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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2947 ClinVarVariant:30556 NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) 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 |
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2948 ClinVarVariant:7106 NM_000492.3(CFTR):c.1519_1521delATC (p.Ile507del) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2949 ClinVarVariant:53478 NM_000492.3(CFTR):c.2341C>T (p.Gln781Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2950 ClinVarVariant:10316 NM_000132.3(F8):c.6515C>A (p.Pro2172Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2951 ClinVarVariant:53448 NM_000492.3(CFTR):c.2173G>A (p.Glu725Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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2952 ClinVarVariant:13372 NM_001042465.1(PSAP):c.1055T>C (p.Leu352Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2953 ClinVarVariant:16152 NM_001018077.1(NR3C1):c.2241T>G (p.Ile747Met) 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 |
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2954 ClinVarVariant:53438 NM_000492.3(CFTR):c.2087A>G (p.Lys696Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2955 MGI:2384136 Ucn<tm1Klee> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:12091910 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2956 ClinVarVariant:53458 NM_000492.3(CFTR):c.2240_2247delCGATACTG (p.Ile748Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2957 dbSNP:rs1896296 rs1896296-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21326311|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2958 ClinVarVariant:51031 NM_000492.3(CFTR):c.-226G>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2959 ClinVarVariant:53428 NM_000492.3(CFTR):c.202A>G (p.Lys68Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2960 ClinVarVariant:53408 NM_000492.3(CFTR):c.1882G>A (p.Gly628Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2961 ClinVarVariant:1469 NM_000190.3(HMBS):c.739T>C (p.Cys247Arg) 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 |
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2962 MGI:5527440 Lpar5<tm1Zcv> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23039190 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2963 ClinVarVariant:53418 NM_000492.3(CFTR):c.1976delA (p.Asn659Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2964 ClinVarVariant:1479 HMBS, 2-BP DEL, 847TG 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 |
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2965 ClinVarVariant:180198 NM_006306.3(SMC1A):c.2974-2A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2966 MGI:5550580 Tg(PDGFB-APPInd)F17Plhn NCBITaxon:10090 Mus musculus NCBIGene:351 APP MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:16289866 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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2967 ClinVarVariant:159041 NM_133433.3(NIPBL):c.1885C>T (p.Arg629Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2968 ClinVarVariant:159031 NM_133433.3(NIPBL):c.1183C>T (p.Gln395Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2969 ClinVarVariant:53881 NM_000492.3(CFTR):c.4051A>G (p.Lys1351Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2970 ClinVarVariant:159051 NM_133433.3(NIPBL):c.2294G>A (p.Arg765Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2971 ClinVarVariant:159081 NM_133433.3(NIPBL):c.3423A>G (p.Ser1141=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2972 ClinVarVariant:166852 NP_000483.3:p.Met470Val NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2973 ClinVarVariant:1459 HMBS, 1-BP DEL, 174C 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 |
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2974 ClinVarVariant:126968 NM_017849.3(TMEM127):c.3G>T (p.Met1Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2975 ClinVarVariant:53851 NM_000492.3(CFTR):c.3918C>T (p.Pro1306=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2976 ClinVarVariant:53841 NM_000492.3(CFTR):c.3889dupT (p.Ser1297Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2977 ClinVarVariant:159071 NM_133433.3(NIPBL):c.3103C>G (p.Pro1035Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2978 ClinVarVariant:1449 NM_000190.3(HMBS):c.446G>A (p.Arg149Gln) 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 |
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2979 ClinVarVariant:53891 NM_000492.3(CFTR):c.4111G>T (p.Glu1371Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2980 ClinVarVariant:53861 NM_000492.3(CFTR):c.3956C>A (p.Ala1319Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2981 ClinVarVariant:53811 NM_000492.3(CFTR):c.3774dupG (p.Arg1259Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2982 ClinVarVariant:10296 F8, TRP1942TER NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2983 ClinVarVariant:53871 NM_000492.3(CFTR):c.4003C>T (p.Leu1335Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2984 ClinVarVariant:9241 PMS2, 2-BP INS, NT1144 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2985 ClinVarVariant:10246 NM_000132.3(F8):c.2167G>A (p.Ala723Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2986 ClinVarVariant:10256 NM_000132.3(F8):c.4121_4124delTAGA (p.Ile1374Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2987 ClinVarVariant:10236 NM_000132.3(F8):c.1834C>T (p.Arg612Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2988 ClinVarVariant:53398 NM_000492.3(CFTR):c.1826A>G (p.His609Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2989 ClinVarVariant:10286 NM_000132.3(F8):c.5593G>A (p.Asp1865Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:9302853|PMID:10734657|PMID:15357786 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2990 ClinVarVariant:53801 NM_000492.3(CFTR):c.3745G>A (p.Gly1249Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2991 ClinVarVariant:53831 NM_000492.3(CFTR):c.3874-19_3874-17delCTT NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2992 dbSNP:rs11568377 rs11568377-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:24058526|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2993 ClinVarVariant:10266 NM_000132.3(F8):c.5123G>A (p.Arg1708His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2994 ClinVarVariant:53358 NM_000492.3(CFTR):c.1714G>A (p.Asp572Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2995 ClinVarVariant:53378 NM_000492.3(CFTR):c.1766+3A>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2996 ClinVarVariant:10216 NM_000132.3(F8):c.1481T>C (p.Ile494Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2997 ClinVarVariant:5286 NM_001077197.1(PDE11A):c.169C>T (p.Arg57Ter) 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 |
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2998 ClinVarVariant:53388 NM_000492.3(CFTR):c.1792_1798delAAAACTA (p.Lys598Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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2999 ClinVarVariant:10226 NM_000132.3(F8):c.1660A>G (p.Ser554Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3000 ClinVarVariant:3554 CLN3, 6-KB DEL NCBITaxon:9606 Homo sapiens 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 |
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3001 MGI:4440440 Tg(CAG-VCP*A232E)93Jpat NCBITaxon:10090 Mus musculus NCBIGene:7415 VCP MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20147319 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3002 ClinVarVariant:38728 NM_000492.3(CFTR):c.3276C>A (p.Tyr1092Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20495477|PMID:10361400|PMID:20171652|PMID:12796866|PMID:7866213 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3003 ClinVarVariant:88923 NM_000311.3(PRNP):c.631G>C (p.Glu211Gln) NCBITaxon:9606 Homo sapiens 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 |
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3004 ClinVarVariant:53338 NM_000492.3(CFTR):c.1680-886A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3005 ClinVarVariant:39756 NM_145239.2(PRRT2):c.748C>T (p.Gln250Ter) 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 |
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3006 ClinVarVariant:53368 NM_000492.3(CFTR):c.173A>G (p.Asp58Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3007 ClinVarVariant:10206 NM_000132.3(F8):c.1174T>C (p.Ser392Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3008 ClinVarVariant:53318 NM_000492.3(CFTR):c.165-50A>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3009 ClinVarVariant:102869 NM_000277.1(PAH):c.842+1G>T 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 |
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3010 ClinVarVariant:53328 NM_000492.3(CFTR):c.1676C>A (p.Ala559Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3011 ClinVarVariant:10636 F9, EX51INS NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3012 ClinVarVariant:211139 NM_018486.2(HDAC8):c.134_137delTTGA (p.Ile45Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3013 MGI:1857939 Xpa<tm1Hvs> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:22174697 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3014 ClinVarVariant:3932 HEXA, 2-BP DEL, TT, CODON 142 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3015 ClinVarVariant:159211 NM_133433.3(NIPBL):c.6893G>A (p.Arg2298His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3016 ClinVarVariant:159221 NM_015384.4(NIPBL):c.7106delA (p.Gln2369Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3017 ClinVarVariant:159201 NM_133433.3(NIPBL):c.6590-2A>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3018 ClinVarVariant:53558 NM_000492.3(CFTR):c.2750A>G (p.Tyr917Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3019 MGI:5495816 Ddc<tm1.1Nwlh> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23275025 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3020 ClinVarVariant:53568 NM_000492.3(CFTR):c.2780T>C (p.Leu927Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3021 MGI:5554947 Gpr83<tm1.2Lex> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23088626 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3022 MGI:3757609 Ophn1<tm1Bill> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:17728457 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3023 MGI:5433221 Fgf13<tm1Xuzh> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:22726441 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3024 ClinVarVariant:1760 NM_000251.2(MSH2):c.2113delG (p.Val705Trpfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3025 MGI:5568206 Mecp2<tm1.1Jtc> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:24283265 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3026 dbSNP:rs9494145 rs9494145-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:25372704|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3027 MGI:3830051 Slc1a3<tm1(cre/ERT2)Mgoe> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:18832146 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3028 ClinVarVariant:67499 NM_000238.3(KCNH2):c.3470C>T (p.Pro1157Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3029 ClinVarVariant:53258 NM_000492.3(CFTR):c.1453A>T (p.Ser485Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3030 ClinVarVariant:53248 NM_000492.3(CFTR):c.1405A>G (p.Met469Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3031 ClinVarVariant:1359 NM_170740.1(ALDH5A1):c.1265G>A (p.Gly422Asp) 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 |
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3032 ClinVarVariant:35460 NM_006265.2(RAD21):c.1753T>C (p.Cys585Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3033 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 |
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3034 MGI:3849324 Trpc5<tm1.1Clph> 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 |
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3035 ClinVarVariant:53308 NM_000492.3(CFTR):c.164+3_164+4insT NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3036 ClinVarVariant:53228 NM_000492.3(CFTR):c.1322T>C (p.Leu441Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3037 ClinVarVariant:10116 NM_000132.3(F8):c.5183A>G (p.Tyr1728Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3038 ClinVarVariant:53278 NM_000492.3(CFTR):c.1518C>G (p.Ile506Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3039 ClinVarVariant:10106 F8, LINE INS, EX14 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3040 ClinVarVariant:53268 NM_000492.3(CFTR):c.1495C>G (p.Pro499Ala) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3041 ClinVarVariant:10146 NM_000132.3(F8):c.5167G>A (p.Glu1723Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3042 ClinVarVariant:10156 NM_000132.3(F8):c.121G>T (p.Gly41Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3043 ClinVarVariant:2148 NIPBL, IVS45AS, G-C, -1 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3044 ClinVarVariant:48700 NM_000492.3(CFTR):c.803delA (p.Asn268Ilefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3045 MGI:2178545 Crhr2<tm1Klee> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:10742108 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3046 ClinVarVariant:53348 NM_000492.3(CFTR):c.1703T>A (p.Leu568Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3047 MGI:5297219 Snap25<tm1Mtaka> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:21949876 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3048 ClinVarVariant:155759 NM_000044.3(AR):c.172_174(38_?) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17132758|PMID:17707426|PMID:21801726|PMID:18775430|PMID:1635303 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3049 MGI:3809938 Akap5<tm1.1Jsco> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:18711127 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3050 ClinVarVariant:53751 NM_000492.3(CFTR):c.3469-17T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3051 ClinVarVariant:67539 NM_000238.3(KCNH2):c.881G>T (p.Gly294Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3052 MGI:3828099 Npas4<tm1Meg> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:18815592 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3053 ClinVarVariant:1770 NG_007110.2:g.4247_24291del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3054 ClinVarVariant:102769 NM_000277.1(PAH):c.648C>G (p.Tyr216Ter) 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 |
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3055 MGI:1928293 Grin2b<tm1Rsp> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23201971 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3056 ClinVarVariant:211142 NM_018486.2(HDAC8):c.556G>A (p.Glu186Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3057 ClinVarVariant:53218 NM_000492.3(CFTR):c.1210-2A>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3058 ClinVarVariant:16873 IL10, -592C-A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:12098612|PMID:3167473|PMID:22276472|PMID:2751944|PMID:2801829 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3059 ClinVarVariant:4323 NM_001005741.2(GBA):c.1174C>G (p.Arg392Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3060 ClinVarVariant:4313 NM_001005741.2(GBA):c.160G>T (p.Val54Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3061 ClinVarVariant:53208 NM_000492.3(CFTR):c.1177delG (p.Val393Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3062 ClinVarVariant:53238 NM_000492.3(CFTR):c.137C>A (p.Ala46Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3063 ClinVarVariant:10136 F8, EX5DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3064 ClinVarVariant:53298 NM_000492.3(CFTR):c.1610_1611delAC (p.Asp537Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3065 MGI:2447398 Npy2r<tm1.1Hhz> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:12742262 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3066 ClinVarVariant:53288 NM_000492.3(CFTR):c.1584+51_1584+61dupTACCCAAATTA NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3067 ClinVarVariant:53731 NM_000492.3(CFTR):c.338A>T (p.Asn113Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3068 ClinVarVariant:14718 IL6, -174G-C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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3069 ClinVarVariant:53741 NM_000492.3(CFTR):c.3435G>A (p.Trp1145Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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3070 MGI:3774019 Slc4a10<tm1.1Cahb> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:18165320 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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diff
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3071 ClinVarVariant:10166 NM_000132.3(F8):c.311T>A (p.Val104Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3072 ClinVarVariant:10196 NM_000132.3(F8):c.935T>C (p.Phe312Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
changeset
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3073 MGI:2387410 Htr1a<tm1Tct> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:9844013 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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diff
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3074 ClinVarVariant:53721 NM_000492.3(CFTR):c.3353C>G (p.Ser1118Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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3075 ClinVarVariant:10176 NM_000132.3(F8):c.493C>T (p.Pro165Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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3076 ClinVarVariant:10186 F8, TRP255TER NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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3077 ClinVarVariant:53701 NM_000492.3(CFTR):c.3278T>C (p.Leu1093Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3078 ClinVarVariant:53711 NM_000492.3(CFTR):c.3299A>C (p.Gln1100Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3079 ClinVarVariant:53771 NM_000492.3(CFTR):c.3556C>T (p.Gln1186Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3080 MGI:4355536 mt-Atp8<m1> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:19037013 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3081 ClinVarVariant:2218 NM_000551.3(VHL):c.499C>T (p.Arg167Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3082 MGI:4353222 Arx<tm1.1Jno> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:19587282 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3083 ClinVarVariant:53761 NM_000492.3(CFTR):c.3497T>G (p.Phe1166Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3084 MGI:5634106 Tg(Thy1-EGFP/SQSTM1)02Mcwo NCBITaxon:10090 Mus musculus NCBIGene:8878 sequestosome 1 MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23591541 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3085 ClinVarVariant:9816 NM_000044.3(AR):c.2571C>G (p.Phe857Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17132758|PMID:17707426|PMID:21801726|PMID:18775430|PMID:1635303 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3086 ClinVarVariant:53791 NM_000492.3(CFTR):c.3717G>A (p.Arg1239=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3087 MGI:2158758 Chrna4<tm1Lst> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11226318 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3088 ClinVarVariant:597 NM_000277.1(PAH):c.1092_1094delTCT (p.Leu365del) 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 |
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3089 ClinVarVariant:53591 NM_000492.3(CFTR):c.2909-11_2909-5del7 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3090 ClinVarVariant:53571 NM_000492.3(CFTR):c.2808A>G (p.Pro936=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3091 ClinVarVariant:577 NM_000277.1(PAH):c.1222C>T (p.Arg408Trp) 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 |
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3092 ClinVarVariant:5094 CAPN10, IVS6, INS/DEL, 39-BP NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3093 ClinVarVariant:56251 NM_000086.2(CLN3):c.1198-1G>T NCBITaxon:9606 Homo sapiens 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 |
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3094 ClinVarVariant:102639 NM_000277.1(PAH):c.250G>T (p.Asp84Tyr) 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 |
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3095 dbSNP:rs2577720 rs2577720-C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:21326311|PMID:9491171|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3096 MGI:2451291 Atp1a2<tm2Ling> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17234593 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3097 MGI:4336382 Mto1<Gt(G019A03)Wrst> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:25506927 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3098 ClinVarVariant:53581 NM_000492.3(CFTR):c.2859_2890del32 (p.Leu953Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3099 ClinVarVariant:2413 NM_032409.2(PINK1):c.938C>T (p.Thr313Met) 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 |
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3100 MGI:1857814 Ntrk2<tm1Bbd> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:10571233 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3101 ClinVarVariant:18455 SDHB, 15.69-KB DEL, EX1 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3102 dbSNP:rs12883884 rs12883884-T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400|PMID:21602797 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3103 MGI:2182778 Nfatc3<tm1Glm> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:16554754 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3104 ClinVarVariant:56291 NM_000086.2(CLN3):c.906+5G>A NCBITaxon:9606 Homo sapiens 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 |
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3105 ClinVarVariant:56281 NM_000086.2(CLN3):c.560G>C (p.Gly187Ala) NCBITaxon:9606 Homo sapiens 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 |
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3106 ClinVarVariant:120265 NM_000277.1(PAH):c.1240T>C (p.Tyr414His) 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 |
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3107 ClinVarVariant:53158 NM_000492.3(CFTR):c.-9_14del23 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3108 ClinVarVariant:202204 NM_000251.2(MSH2):c.2459G>A (p.Gly820Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3109 ClinVarVariant:48680 NM_000492.3(CFTR):c.274-1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20495477|PMID:10361400|PMID:20171652|PMID:12796866|PMID:7866213 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3110 ClinVarVariant:56261 NM_000086.2(CLN3):c.233dupG (p.Thr80Asnfs) NCBITaxon:9606 Homo sapiens 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 |
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3111 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 |
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3112 ClinVarVariant:53198 NM_000492.3(CFTR):c.112_113delTA (p.Tyr38Profs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3113 ClinVarVariant:53178 NM_000492.3(CFTR):c.1068G>A (p.Trp356Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3114 ClinVarVariant:120285 NM_000277.1(PAH):c.785T>G (p.Val262Gly) 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 |
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3115 ClinVarVariant:54009 NM_000492.3(CFTR):c.579+3A>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20495477|PMID:10361400|PMID:20171652|PMID:12796866|PMID:7866213 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3116 ClinVarVariant:607 NM_000277.1(PAH):c.1066-11G>A 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 |
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3117 ClinVarVariant:10086 NM_000132.3(F8):c.6682C>T (p.Arg2228Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:9302853|PMID:10734657|PMID:15357786 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3118 ClinVarVariant:53601 NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3119 MGI:3578226 Gsk3b<tm1Dral> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20357757 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3120 ClinVarVariant:54019 NM_000492.3(CFTR):c.596A>G (p.His199Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3121 ClinVarVariant:162000 NM_000492.3(CFTR):c.830G>A (p.Trp277Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3122 ClinVarVariant:53188 NM_000492.3(CFTR):c.1106_1111dupACAAAA (p.Lys370_Ile371insAsnLys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3123 ClinVarVariant:4293 NM_001005741.2(GBA):c.1342G>C (p.Asp448His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7554686|PMID:23510063|PMID:20635362|PMID:9333269|PMID:12581195 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3124 ClinVarVariant:120295 NM_000277.1(PAH):c.913-8A>G 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 |
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3125 ClinVarVariant:10096 NM_000132.3(F8):c.6496C>T (p.Arg2166Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:2378544|PMID:17498080|PMID:10734657|PMID:15357786|PMID:9302853 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3126 ClinVarVariant:53611 NM_000492.3(CFTR):c.2977G>T (p.Asp993Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3127 ClinVarVariant:53651 NM_000492.3(CFTR):c.3106delA (p.Thr1036Profs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3128 ClinVarVariant:91330 NM_000535.5(PMS2):c.2186_2187delTC (p.Leu729Glnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3129 ClinVarVariant:53621 NM_000492.3(CFTR):c.2T>A (p.Met1Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3130 ClinVarVariant:54039 NM_000492.3(CFTR):c.675T>A (p.Cys225Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3131 ClinVarVariant:54029 NM_000492.3(CFTR):c.619C>T (p.Gln207Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3132 ClinVarVariant:637 NM_000277.1(PAH):c.913_1199del (p.Ile306Leufs) 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 |
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3133 ClinVarVariant:3907 HEXA, IVS4, G-T, -1 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3134 ClinVarVariant:53481 NM_000492.3(CFTR):c.235T>C (p.Trp79Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3135 ClinVarVariant:53641 NM_000492.3(CFTR):c.3059T>A (p.Val1020Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3136 ClinVarVariant:54069 NM_000492.3(CFTR):c.859A>T (p.Asn287Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3137 ClinVarVariant:31177 NM_145239.2(PRRT2):c.796C>T (p.Arg266Trp) 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 |
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3138 ClinVarVariant:53681 NM_000492.3(CFTR):c.3200C>A (p.Ala1067Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20495477|PMID:10361400|PMID:20171652|PMID:12796866|PMID:7866213 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3139 ClinVarVariant:53691 NM_000492.3(CFTR):c.3236A>C (p.His1079Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3140 ClinVarVariant:54049 NM_000492.3(CFTR):c.731T>A (p.Met244Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3141 ClinVarVariant:53631 NM_000492.3(CFTR):c.3025G>A (p.Ala1009Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3142 MGI:2686972 Anxty<NZW> 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 |
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3143 ClinVarVariant:54059 NM_000492.3(CFTR):c.79G>A (p.Gly27Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20495477|PMID:10361400|PMID:20171652|PMID:12796866|PMID:7866213 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3144 ClinVarVariant:3937 HEXA, IVS7, G-A, +1 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3145 ClinVarVariant:54079 NM_000492.3(CFTR):c.881_882delAA (p.Lys294Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3146 ClinVarVariant:53661 NM_000492.3(CFTR):c.3140-1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3147 ClinVarVariant:54089 NM_000492.3(CFTR):c.941G>A (p.Gly314Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3148 ClinVarVariant:53671 NM_000492.3(CFTR):c.3179A>C (p.Lys1060Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3149 MGI:2385631 Tg(APPSWE)2576Kha NCBITaxon:10090 Mus musculus NCBIGene:351 APP RO:0002200 has phenotype MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:9302276|PMID:16260491 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/mmrrc.ttl direct |
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3150 ClinVarVariant:3917 NM_000520.4(HEXA):c.1453T>C (p.Trp485Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3151 MGI:5499180 Pedm15 NCBITaxon:10090 Mus musculus MGI:5499180 Pedm15 HP:0000739 Anxiety ECO:0000006 experimental evidence MGI:4940633 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3152 ClinVarVariant:53491 NM_000492.3(CFTR):c.2464G>A (p.Glu822Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3153 MGI:1857288 Plat<tm1Mlg> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:15522965|PMID:12524546 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3154 ClinVarVariant:53451 NM_000492.3(CFTR):c.2195T>G (p.Leu732Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3155 ClinVarVariant:35825 NM_000492.3(CFTR):c.1558G>A (p.Val520Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3156 MGI:3527166 Th<tm5Rpa> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:16723393 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3157 ClinVarVariant:53471 NM_000492.3(CFTR):c.2290C>T (p.Arg764Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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parents:
diff
changeset
|
3158 ClinVarVariant:75243 NM_002608.2(PDGFB):c.445C>T (p.Arg149Ter) 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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3159 dbSNP:rs1799990 rs1799990-A NCBITaxon:9606 Homo sapiens 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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parents:
diff
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|
3160 MGI:4412286 Gt(ROSA)26Sor<tm7(CAG-mCherry,-EGFP/tetX)Dym> 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3161 ClinVarVariant:53441 NM_000492.3(CFTR):c.2126G>A (p.Arg709Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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3162 dbSNP:rs6729815 rs6729815-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:21326311|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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3163 ClinVarVariant:211657 NM_133433.3(NIPBL):c.6800T>G (p.Met2267Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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3164 ClinVarVariant:211667 NM_133433.3(NIPBL):c.8342_8348delCTAATAAinsATT (p.Ala2781Aspfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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3165 ClinVarVariant:12776 NR_030286.1(MIR559):n.278_23134del NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3166 MGI:2178057 Gria1<tm1Rsp> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:15344919 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3167 ClinVarVariant:35855 NM_000492.3(CFTR):c.2932A>T (p.Lys978Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3168 ClinVarVariant:39712 NM_018486.2(HDAC8):c.932C>T (p.Thr311Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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3169 ClinVarVariant:35845 NM_000492.3(CFTR):c.273+10255delC NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3170 ClinVarVariant:189018 NM_000295.4(SERPINA1):c.745G>C (p.Gly249Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19072562|PMID:18376109|PMID:9116423|PMID:3878661|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3171 ClinVarVariant:35835 NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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3172 ClinVarVariant:12786 NM_003000.2(SDHB):c.302G>A (p.Cys101Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3173 ClinVarVariant:193611 NM_001005741.2(GBA):c.1265_1319del55 (p.Leu422Profs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3174 ClinVarVariant:35875 NM_000492.3(CFTR):c.3717+5G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3175 ClinVarVariant:211637 NM_133433.3(NIPBL):c.4529dupA (p.Asp1510Glufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3176 ClinVarVariant:35865 NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3177 ClinVarVariant:211627 NM_015384.4(NIPBL):c.2464delC (p.Gln822Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3178 ClinVarVariant:180201 NM_005933.3(KMT2A):c.2233C>T (p.Arg745Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3179 ClinVarVariant:35895 NM_000492.3(CFTR):c.997C>T (p.Leu333Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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3180 ClinVarVariant:211647 NM_133433.3(NIPBL):c.5580dupT (p.Gly1861Trpfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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3181 ClinVarVariant:53531 NM_000492.3(CFTR):c.2634_2641delGGTTGTGC (p.Leu878Phefs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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3182 ClinVarVariant:53541 NM_000492.3(CFTR):c.266A>G (p.Tyr89Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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3183 ClinVarVariant:53561 NM_000492.3(CFTR):c.2758G>A (p.Val920Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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3184 MGI:3720068 Tg(Thy1-App*R609D*K612E)4Vln NCBITaxon:10090 Mus musculus MP:0002797 increased thigmotaxis ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:8635459|PMID:8635459 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3185 ClinVarVariant:109 NM_017849.3(TMEM127):c.245-1G>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:14605591|PMID:19569019|PMID:1576030|PMID:17474956|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3186 MGI:3609234 App<tm1Ck> 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3187 ClinVarVariant:53501 NM_000492.3(CFTR):c.2491G>T (p.Glu831Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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3188 ClinVarVariant:53551 NM_000492.3(CFTR):c.2736dupG (p.Tyr913Valfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3189 ClinVarVariant:53511 NM_000492.3(CFTR):c.2552G>T (p.Arg851Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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3190 ClinVarVariant:53521 NM_000492.3(CFTR):c.2600T>A (p.Leu867Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3191 ClinVarVariant:6893 NM_003002.3(SDHD):c.112C>T (p.Arg38Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000501|ECO:0000246 evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:19569019|PMID:1576030|PMID:17474956|PMID:14605591|PMID:6829807 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3192 ClinVarVariant:53391 NM_000492.3(CFTR):c.1801A>T (p.Ile601Phe) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3193 ClinVarVariant:53411 NM_000492.3(CFTR):c.1898T>C (p.Leu633Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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3194 ClinVarVariant:12913 NM_152296.4(ATP1A3):c.2338T>C (p.Phe780Leu) 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 |
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3195 ClinVarVariant:1442 HMBS, EX12DEL 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 |
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3196 ClinVarVariant:56271 NM_000086.2(CLN3):c.461-1G>A NCBITaxon:9606 Homo sapiens 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 |
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planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
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diff
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3197 ClinVarVariant:41707 NM_000535.5(PMS2):c.1789A>T (p.Thr597Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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3198 ClinVarVariant:53431 NM_000492.3(CFTR):c.204A>T (p.Lys68Asn) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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changeset
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3199 ClinVarVariant:1462 NM_000190.3(HMBS):c.601C>T (p.Arg201Trp) 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 |
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diff
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3200 ClinVarVariant:38301 NM_001005741.2(GBA):c.1226A>C (p.Asn409Thr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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3201 MGI:5568123 Sv2c<tm1Dda> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23458503 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3202 ClinVarVariant:159944 NM_006306.3(SMC1A):c.1754T>C (p.Leu585Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3203 ClinVarVariant:4308 NM_001005741.2(GBA):c.481C>T (p.Pro161Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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3204 dbSNP:rs12073837 rs12073837-T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246|ECO:0000213 computational combinatorial evidence used in automatic assertion|combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21326311|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3205 ClinVarVariant:13394 NM_000311.3(PRNP):c.160_183GGTGGTGGCTGGGGGCAGCCTCAT(4) (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) NCBITaxon:9606 Homo sapiens HP:0000739 Anxiety ECO:0000501|ECO:0000304 evidence used in automatic assertion|traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3206 ClinVarVariant:56286 NM_000086.2(CLN3):c.586dupG (p.Ala196Glyfs) NCBITaxon:9606 Homo sapiens 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 |
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3207 MGI:5634938 Tg(Thy1-EGFP/SQSTM1*P392L)#Mcwo NCBITaxon:10090 Mus musculus NCBIGene:8878 sequestosome 1 MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23591541 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3208 ClinVarVariant:48685 NM_000492.3(CFTR):c.1766+5G>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3209 MGI:1857026 Foxq1<sa> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:16109771 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3210 ClinVarVariant:5562 NM_001040108.1(MLH3):c.4351G>A (p.Glu1451Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3211 ClinVarVariant:10584 NM_000133.3(F9):c.571C>T (p.Arg191Cys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3212 MGI:1857572 Ins2<Akita> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:17334640 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3213 ClinVarVariant:10574 NM_000133.3(F9):c.237A>C (p.Glu79Asp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3214 ClinVarVariant:1755 NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3215 ClinVarVariant:56266 NM_000086.2(CLN3):c.378_379dupCC (p.Arg127Profs) NCBITaxon:9606 Homo sapiens 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 |
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3216 ClinVarVariant:10564 F9, ARG-4TRP NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3217 ClinVarVariant:188855 NM_000520.4(HEXA):c.947dupA (p.Tyr316Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3218 ClinVarVariant:53696 NM_000492.3(CFTR):c.325_327delTATinsG (p.Tyr109Glyfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3219 ClinVarVariant:188845 NM_000295.4(SERPINA1):c.1158dupC (p.Glu387Argfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19072562|PMID:18376109|PMID:9116423|PMID:3878661|PMID:23547634 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3220 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 |
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3221 ClinVarVariant:56246 NM_000086.2(CLN3):c.1054C>T (p.Gln352Ter) NCBITaxon:9606 Homo sapiens 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 |
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3222 dbSNP:rs7557939 rs7557939-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21326311|PMID:21425450 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3223 ClinVarVariant:11572 PAK3, IVS6DS, A-G, +4 NCBITaxon:9606 Homo sapiens HP:0000739 Anxiety ECO:0000269 experimental evidence used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3224 ClinVarVariant:56256 NM_000086.2(CLN3):c.1272delG (p.Leu425Serfs) NCBITaxon:9606 Homo sapiens 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 |
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3225 ClinVarVariant:4298 NM_001005741.2(GBA):c.764T>A (p.Phe255Tyr) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3226 MGI:2180119 Adcyap1r1<tm1.1Gsc> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:11483244 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3227 ClinVarVariant:3890 NM_000520.4(HEXA):c.1421+1G>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3228 ClinVarVariant:65759 NM_152296.4(ATP1A3):c.2051C>T (p.Ser684Phe) 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 |
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3229 ClinVarVariant:8510 NM_001127221.1(CACNA1A):c.5126T>C (p.Ile1709Thr) 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 |
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3230 ClinVarVariant:10981 NM_001032383.1(PQBP1):c.461_462delAG (p.Glu154Alafs) 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 |
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3231 MGI:2152583 Adora2a<tm1Map> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:9262401 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3232 ClinVarVariant:67472 NM_000238.3(KCNH2):c.3118A>G (p.Ser1040Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:17854255|PMID:1759138|PMID:9172914|PMID:9602186|PMID:22796196 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3233 MGI:1931877 Vim<tm1Cba> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:9888296 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3234 ClinVarVariant:54092 NM_000492.3(CFTR):c.959T>A (p.Leu320Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3235 ClinVarVariant:159096 NM_133433.3(NIPBL):c.3851A>G (p.Asn1284Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3236 MGI:2387415 Hrh3<tm1Twl> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:15078574 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3237 ClinVarVariant:31170 NM_145239.2(PRRT2):c.972delA (p.Val325Serfs) 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 |
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3238 ClinVarVariant:159086 NM_015384.4(NIPBL):c.3526_3530delGAAAA (p.Glu1176Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3239 NCBIGene:387572 PAND1 NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype HP:0000739 Anxiety ECO:0000177|ECO:0000501 genomic context evidence|evidence used in automatic assertion http://data.monarchinitiative.org/ttl/omim.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl direct |
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3240 ClinVarVariant:54082 NM_000492.3(CFTR):c.890G>A (p.Arg297Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3241 ClinVarVariant:16147 NM_001018077.1(NR3C1):c.1922A>T (p.Asp641Val) 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 |
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3242 ClinVarVariant:30122 HMGA1, 1-BP INS, IVS5, -13 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3243 ClinVarVariant:2141 NIPBL, 1-BP DEL, 150G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3244 ClinVarVariant:16157 NM_001018077.1(NR3C1):c.2035G>A (p.Gly679Ser) 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 |
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3245 ClinVarVariant:159076 NM_133433.3(NIPBL):c.3304+5G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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3246 ClinVarVariant:54072 NM_000492.3(CFTR):c.861_865delCTTAA (p.Asn287Lysfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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parents:
diff
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3247 MGI:3800752 Tg(HTT*97Q)IXwy NCBITaxon:10090 Mus musculus NCBIGene:3064 huntingtin MP:0001363 increased anxiety-related response ECO:0000006|ECO:0000006 experimental evidence|experimental evidence PMID:19464370|PMID:24784230|PMID:20064390|PMID:24784230 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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diff
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3248 MGI:5474770 Dnajc9<tm1.1(KOMP)Vlcg> MP:0001364 decreased anxiety-related response ECO:0000059|ECO:0000059|ECO:0000006 experimental phenotypic evidence|experimental phenotypic evidence|experimental evidence MGI:5576271 http://data.monarchinitiative.org/ttl/mgi.ttl|http://data.monarchinitiative.org/ttl/impc.ttl inferred |
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3249 MGI:3528891 Mchr1<tm1Lex> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:15988472 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3250 ClinVarVariant:96333 NM_015384.4(NIPBL):c.2021A>G (p.Asn674Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3251 ClinVarVariant:53886 NM_000492.3(CFTR):c.409_412delCTCC (p.Leu137Tyrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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3252 ClinVarVariant:600 NM_000277.1(PAH):c.764T>C (p.Leu255Ser) 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 |
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3253 ClinVarVariant:54012 NM_000492.3(CFTR):c.579+5G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3254 ClinVarVariant:31100 NM_019026.4(TMCO1):c.139_140delAG (p.Arg47Thrfs) NCBITaxon:9606 Homo sapiens HP:0000739 Anxiety ECO:0000501|ECO:0000501 evidence used in automatic assertion|evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3255 ClinVarVariant:54022 NM_000492.3(CFTR):c.601G>A (p.Val201Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3256 ClinVarVariant:159066 NM_133433.3(NIPBL):c.2903A>G (p.Asn968Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3257 ClinVarVariant:53876 NM_000492.3(CFTR):c.4036_4042delCTAAGCC (p.Leu1346Metfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3258 ClinVarVariant:54002 NM_000492.3(CFTR):c.567C>A (p.Asn189Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3259 ClinVarVariant:53866 NM_000492.3(CFTR):c.3976delT (p.Ser1326Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3260 ClinVarVariant:5774 NM_003919.2(SGCE):c.884dupT (p.Leu295Phefs) 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 |
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3261 ClinVarVariant:13790 NM_006193.2(PAX4):c.361C>T (p.Arg121Trp) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3262 ClinVarVariant:7564 NM_080647.1(TBX1):c.928G>A (p.Gly310Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20410726|PMID:15877762|PMID:22526976|PMID:22832905|PMID:21215459 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3263 MGI:2178543 Crhr1<tm1Wrst> 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 |
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3264 ClinVarVariant:54062 NM_000492.3(CFTR):c.80G>A (p.Gly27Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3265 MGI:5503119 Kif13a<tm1.1Noh> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:23438369 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3266 ClinVarVariant:159056 NM_133433.3(NIPBL):c.2471C>T (p.Ser824Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3267 ClinVarVariant:2151 NM_015384.4(NIPBL):c.-321_-320delCCinsA NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3268 ClinVarVariant:17084 NM_000249.3(MLH1):c.1667+1_1667+8delinsATTT NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3269 MGI:3806156 Ndst3<tm1.1Grob> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:18385133 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3270 ClinVarVariant:159046 NM_133433.3(NIPBL):c.2093C>G (p.Ser698Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3271 ClinVarVariant:54042 NM_000492.3(CFTR):c.709C>G (p.Gln237Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3272 ClinVarVariant:620 NM_000277.1(PAH):c.1092_1106delTCTCCCCCTGGAGCT (p.Leu365_Leu369del) 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 |
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3273 ClinVarVariant:53716 NM_000492.3(CFTR):c.3314T>G (p.Met1105Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3274 ClinVarVariant:211640 NM_133433.3(NIPBL):c.4580_4581insCCTGTCAACTAACATGT (p.Thr1528Leufs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3275 ClinVarVariant:161999 NM_000492.3(CFTR):c.2443G>T (p.Glu815Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3276 MGI:3759300 Dlgap3<tm1Gfng> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:17713528 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3277 ClinVarVariant:53706 NM_000492.3(CFTR):c.328delG (p.Asp110Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3278 ClinVarVariant:211630 NM_015384.4(NIPBL):c.2965dupA (p.Ile989Asnfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3279 ClinVarVariant:5614 NM_181675.3(PPP2R2B):c.27_29CAG(7_28) (p.Ser17_Ser19del) 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 |
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3280 MGI:5293802 Rln3<tm1Mast> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:21887138 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3281 ClinVarVariant:211620 NM_015384.4(NIPBL):c.1146dupT (p.Ser383Terfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3282 ClinVarVariant:159036 NM_133433.3(NIPBL):c.1477A>G (p.Lys493Glu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3283 ClinVarVariant:54032 NM_000492.3(CFTR):c.642_643insT (p.Ile215Tyrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3284 MGI:3041621 Axtofd4<L1> HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:14990867 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3285 ClinVarVariant:53726 NM_000492.3(CFTR):c.3367G>C (p.Gly1123Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3286 MGI:3819691 Rgsc1770 NCBITaxon:10090 Mus musculus MGI:3819691 Rgsc1770 HP:0000739 Anxiety ECO:0000006 experimental evidence MGI:3778963 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3287 ClinVarVariant:142777 NM_000535.5(PMS2):c.1A>T (p.Met1Leu) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3288 ClinVarVariant:17094 NM_000249.3(MLH1):c.350C>T (p.Thr117Met) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3289 MGI:3665324 Grm3<tm1Ddsc> HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:15619115 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3290 MGI:2388144 Rgs2<tm1Pngr> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:11027316 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3291 dbSNP:rs7565301 rs7565301-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000213|ECO:0000246 combinatorial evidence used in automatic assertion|computational combinatorial evidence used in automatic assertion PMID:21099065|PMID:3375880|PMID:17938043|PMID:9491171|PMID:21425450|PMID:21326311 http://data.monarchinitiative.org/ttl/gwascatalog.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3292 ClinVarVariant:3900 NM_000520.4(HEXA):c.509G>A (p.Arg170Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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diff
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3293 ClinVarVariant:4328 NM_001005741.2(GBA):c.887G>A (p.Arg296Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3294 ClinVarVariant:3920 NM_000520.4(HEXA):c.1073+1G>A NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3295 ClinVarVariant:4318 NM_001005741.2(GBA):c.1090G>A (p.Gly364Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20635362|PMID:9333269|PMID:7554686|PMID:12581195|PMID:23510063 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3296 ClinVarVariant:7414 NM_030756.4(TCF7L2):c.483+9017G>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3297 MGI:1857227 Nos1<tm1Plh> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:15158692 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3298 ClinVarVariant:53776 NM_000492.3(CFTR):c.3600A>G (p.Lys1200=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3299 ClinVarVariant:10614 NM_000133.3(F9):c.1144T>C (p.Cys382Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3300 ClinVarVariant:10654 F9, ALU INSERTION, EX5 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3301 MGI:2182005 Pten<tm2Mak> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:16675393 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3302 ClinVarVariant:53746 NM_000492.3(CFTR):c.3445delT (p.Ser1149Profs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3303 MGI:5532204 Gtf2i<tm1Vcam> MP:0001363 increased anxiety-related response ECO:0000006 experimental evidence PMID:20403157 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3304 MGI:5505778 Grin2a<tm1.1Nhk> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:23201971 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3305 ClinVarVariant:211660 NM_015384.4(NIPBL):c.7301_7308delATCTAGCCins13 (p.?) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3306 ClinVarVariant:53736 NM_000492.3(CFTR):c.3415A>G (p.Ile1139Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3307 ClinVarVariant:9106 NM_001287174.1(ABCC8):c.1744C>G (p.Leu582Val) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3308 ClinVarVariant:10604 NM_000133.3(F9):c.917A>G (p.Asn306Ser) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3309 ClinVarVariant:53766 NM_000492.3(CFTR):c.3529A>T (p.Lys1177Ter) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3310 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 |
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3311 ClinVarVariant:17104 MLH1, 2-BP DEL, 593AG NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3312 ClinVarVariant:99934 NM_015384.4(NIPBL):c.5566A>G (p.Arg1856Gly) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3313 ClinVarVariant:3910 HEXA, 2-BP DEL, TG, EX5 NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3314 MGI:3028827 Mmp24<tm1Ski> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:14741353 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3315 ClinVarVariant:3930 NM_000520.4(HEXA):c.380T>G (p.Leu127Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:696935|PMID:8355954|PMID:16301864|PMID:20597919|PMID:2739956 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3316 ClinVarVariant:53786 NM_000492.3(CFTR):c.364T>C (p.Tyr122His) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3317 ClinVarVariant:10624 NM_000133.3(F9):c.1324G>A (p.Gly442Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3318 ClinVarVariant:590 NM_000277.1(PAH):c.611A>G (p.Tyr204Cys) 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 |
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3319 ClinVarVariant:10664 NM_000133.3(F9):c.277+2T>C NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3320 ClinVarVariant:53756 NM_000492.3(CFTR):c.3475T>C (p.Ser1159Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3321 ClinVarVariant:4288 NM_001005741.2(GBA):c.1448T>C (p.Leu483Pro) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:7554686|PMID:23510063|PMID:20635362|PMID:9333269|PMID:12581195 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3322 ClinVarVariant:8520 NC_000019.10:g.(13206442_13207898)_(13214608_13224666)del 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 |
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3323 ClinVarVariant:4683 VPS13A, 1-BP INS, 6404T 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 |
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3324 MGI:5503119 Kif13a<tm1.1Noh> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:23438369 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3325 ClinVarVariant:53796 NM_000492.3(CFTR):c.3730G>A (p.Gly1244Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3326 ClinVarVariant:10634 F9, EX4-5DEL NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:18700841|PMID:7875359|PMID:19187190|PMID:3817455|PMID:10734657 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3327 ClinVarVariant:209192 NM_006306.3(SMC1A):c.2547delA (p.Ile849Metfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3328 MGI:4973916 Adgrl3<Gt(S17-5H1)Sor> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:22575564 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3329 ClinVarVariant:53676 NM_000492.3(CFTR):c.3194T>G (p.Leu1065Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3330 ClinVarVariant:53666 NM_000492.3(CFTR):c.3158C>T (p.Thr1053Ile) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3331 MGI:3604467 Prss12<tm1Dgen> 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 |
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3332 ClinVarVariant:9036 NM_004366.5(CLCN2):c.221-14_221-4delTTCCCTGCACC NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:21703932|PMID:11319492|PMID:19453714|PMID:21683658|PMID:21041102 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3333 MGI:3041581 Axtofd1<L1> HP:0000739 Anxiety ECO:0000304 traceable author statement used in manual assertion PMID:14990867 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3334 dbSNP:rs5219 rs5219-? NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:9428966|PMID:22188726|PMID:12429356|PMID:22397240|PMID:2209327 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3335 MGI:3840615 Fmr1<tm1Rbd> MP:0001364 decreased anxiety-related response ECO:0000006 experimental evidence PMID:20011099 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3336 ClinVarVariant:192220 NM_000249.3(MLH1):c.37G>A (p.Glu13Lys) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:15857188|PMID:17587321|PMID:21883167|PMID:22773173|PMID:8539655 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3337 ClinVarVariant:53656 NM_000492.3(CFTR):c.3139+101C>G NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3338 ClinVarVariant:159984 NM_005445.3(SMC3):c.2964T>C (p.Asp988=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3339 ClinVarVariant:53646 NM_000492.3(CFTR):c.3068_3072delTAGTG (p.Ile1023Serfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3340 MGI:2668495 Serpini1<tm1Dpw> HP:0000739 Anxiety ECO:0000006 experimental evidence PMID:12837630 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3341 ClinVarVariant:53636 NM_000492.3(CFTR):c.3039delC (p.Tyr1014Thrfs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3342 ClinVarVariant:159974 NM_005445.3(SMC3):c.2299T>C (p.Leu767=) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3343 ClinVarVariant:159964 NM_006306.3(SMC1A):c.855-15C>T NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3344 ClinVarVariant:53626 NM_000492.3(CFTR):c.3014T>G (p.Ile1005Arg) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3345 MGI:3055492 Bbs4<Gt1Nk> MP:0002797 increased thigmotaxis ECO:0000006 experimental evidence PMID:16794820 http://data.monarchinitiative.org/ttl/mgi.ttl inferred |
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3346 ClinVarVariant:159954 NM_006306.3(SMC1A):c.3146G>A (p.Arg1049Gln) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:19309268|PMID:18430761|PMID:17845236|PMID:17640042|PMID:19330433 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |
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3347 ClinVarVariant:53616 NM_000492.3(CFTR):c.2989_3139del151 (p.Leu997Alafs) NCBITaxon:9606 Homo sapiens HP:0000740 Anxiety (with pheochromocytoma) ECO:0000246 computational combinatorial evidence used in automatic assertion PMID:20171652|PMID:12796866|PMID:7866213|PMID:20495477|PMID:10361400 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred |