Curator Name UniProt ID NCBI Gene ID Gene Name Species Name Taxonomy ID Data Type Data Value GO Term GO ID Uberon Term Uberon ID BRENDA Tissue Ontology Term BRENDA Tissue Ontology ID Anatomy Ontology Term Anatomy Ontology ID Phenotype Ontology Term Phenotype Ontology ID Developmental Stage Term (BRENDA) Developmental Stage ID (BRENDA) Cell Type Ontology Term (CTO or CL) Cell Type Ontology ID (CTO or CL) Cell Line Ontology Term (CLO) Cell Line Ontology ID (CLO) PATO Qualifier PATO ID OMIM ID Human Disease Ontology Term Human Disease Ontology ID SNOMED Term SNOMED ID ChEBI Chemical Term ChEBI Chemical ID Secondary Source IDs Secondary Source Notes Reviewed (Y/N) Use (Y/N) Evidence Code Primary Source Secondary Source PENTACON Notes Gene Set Secondary Source Version Date Secondary Source Version PENTACON Annotation No Jenn/Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity ACE in the endothelium and smooth muscle cells produces Ang II which increases vascular tone and bradykinin which decreases vascular tone negative regulation of vasoconstriction GO:0045906 vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA, AAE 4/21/2014 3 3300009295 Jenn/Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity ACE in the endothelium and smooth muscle cells produces Ang II which increases vascular tone and bradykinin which decreases vascular tone negative regulation of vasoconstriction GO:0045906 blood vessel endothelium UBERON:0004638 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA, AAE 4/21/2014 3 3300009296 Jenn/Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity ACE in the endothelium and smooth muscle cells produces Ang II which increases vascular tone and bradykinin which decreases vascular tone positive regulation of vasoconstriction GO:0045907 vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA, AAE 4/21/2014 3 3300009297 Jenn/Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity ACE in the endothelium and smooth muscle cells produces Ang II which increases vascular tone and bradykinin which decreases vascular tone positive regulation of vasoconstriction GO:0045907 blood vessel endothelium UBERON:0004638 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA, AAE 4/21/2014 3 3300009298 Jenn/Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity ACE in the endothelium and smooth muscle cells produces Ang II which increases vascular tone and bradykinin which decreases vascular tone negative regulation of vasoconstriction GO:0045906 vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA, AAE 4/21/2014 3 3300009299 Jenn/Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity ACE in the endothelium and smooth muscle cells produces Ang II which increases vascular tone and bradykinin which decreases vascular tone negative regulation of vasoconstriction GO:0045906 blood vessel smooth muscle UBERON:0004237 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA, AAE 4/21/2014 3 3300009300 Jenn/Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity ACE in the endothelium and smooth muscle cells produces Ang II which increases vascular tone and bradykinin which decreases vascular tone positive regulation of vasoconstriction GO:0045907 vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA, AAE 4/21/2014 3 3300009301 Jenn/Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity ACE in the endothelium and smooth muscle cells produces Ang II which increases vascular tone and bradykinin which decreases vascular tone positive regulation of vasoconstriction GO:0045907 blood vessel smooth muscle UBERON:0004237 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA, AAE 4/21/2014 3 3300009302 Jenn P01019 183 AGT Homo sapiens 9606 Comment/tissue specificity Angiotensin II produced by ACE in the endothelium and smooth muscle cells contributes to an increase in vascular tone positive regulation of vasoconstriction GO:0045907 vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON DGA, BP 4/21/2014 3 3300009306 Jenn P01019 183 AGT Homo sapiens 9606 Comment/tissue specificity Angiotensin II produced by ACE in the endothelium and smooth muscle cells contributes to an increase in vascular tone positive regulation of vasoconstriction GO:0045907 blood vessel endothelium UBERON:0004638 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON DGA, BP 4/21/2014 3 3300009307 Jenn P01019 183 AGT Homo sapiens 9606 Comment/tissue specificity Angiotensin II produced by ACE in the endothelium and smooth muscle cells contributes to an increase in vascular tone positive regulation of vasoconstriction GO:0045907 vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON DGA, BP 4/21/2014 3 3300009308 Jenn P01019 183 AGT Homo sapiens 9606 Comment/tissue specificity Angiotensin II produced by ACE in the endothelium and smooth muscle cells contributes to an increase in vascular tone positive regulation of vasoconstriction GO:0045907 blood vessel smooth muscle UBERON:0004237 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON DGA, BP 4/21/2014 3 3300009309 Jenn/Faith P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity ecNOS in the endothelium and smooth muscles cells produces NO which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of vasoconstriction GO:0045906 vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA 4/21/2014 3 3300009388 Jenn/Faith P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity ecNOS in the endothelium and smooth muscles cells produces NO which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of vasoconstriction GO:0045906 blood vessel endothelium UBERON:0004638 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA 4/21/2014 3 3300009389 Jenn/Faith P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity ecNOS in the endothelium and smooth muscles cells produces NO which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet activation GO:0010544 vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA 4/21/2014 3 3300009390 Jenn/Faith P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity ecNOS in the endothelium and smooth muscles cells produces NO which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet activation GO:0010544 blood vessel endothelium UBERON:0004638 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA 4/21/2014 3 3300009391 Jenn/Faith P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity ecNOS in the endothelium and smooth muscles cells produces NO which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet aggregation GO:0090331 vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA 4/21/2014 3 3300009392 Jenn/Faith P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity ecNOS in the endothelium and smooth muscles cells produces NO which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet aggregation GO:0090331 blood vessel endothelium UBERON:0004638 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA 4/21/2014 3 3300009393 Jenn/Faith P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity ecNOS in the endothelium and smooth muscles cells produces NO which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of vasoconstriction GO:0045906 vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA 4/21/2014 3 3300009394 Jenn/Faith P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity ecNOS in the endothelium and smooth muscles cells produces NO which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of vasoconstriction GO:0045906 blood vessel smooth muscle UBERON:0004237 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA 4/21/2014 3 3300009395 Jenn/Faith P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity ecNOS in the endothelium and smooth muscles cells produces NO which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet activation GO:0010544 vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA 4/21/2014 3 3300009396 Jenn/Faith P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity ecNOS in the endothelium and smooth muscles cells produces NO which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet activation GO:0010544 blood vessel smooth muscle UBERON:0004237 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA 4/21/2014 3 3300009397 Jenn/Faith P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity ecNOS in the endothelium and smooth muscles cells produces NO which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet aggregation GO:0090331 vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA 4/21/2014 3 3300009398 Jenn/Faith P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity ecNOS in the endothelium and smooth muscles cells produces NO which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet aggregation GO:0090331 blood vessel smooth muscle UBERON:0004237 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA 4/21/2014 3 3300009399 Jenn P05305 1906 EDN1 Homo sapiens 9606 Comment/tissue specificity Endothelins can act to increase vascular tone positive regulation of vasoconstriction GO:0045907 vascular system BTO:0001085 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA, AAE 4/21/2014 3 3300009400 Jenn P05305 1906 EDN1 Homo sapiens 9606 Comment/tissue specificity Endothelins can act to increase vascular tone positive regulation of vasoconstriction GO:0045907 vasculature UBERON:0002049 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA, AAE 4/21/2014 3 3300009401 Jenn P20800 1907 EDN2 Homo sapiens 9606 Comment/tissue specificity Endothelins can act to increase vascular tone positive regulation of vasoconstriction GO:0045907 vascular system BTO:0001085 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, AAE 4/21/2014 3 3300009402 Jenn P20800 1907 EDN2 Homo sapiens 9606 Comment/tissue specificity Endothelins can act to increase vascular tone positive regulation of vasoconstriction GO:0045907 vasculature UBERON:0002049 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, AAE 4/21/2014 3 3300009403 Jenn P14138 1908 EDN3 Homo sapiens 9606 Comment/tissue specificity Endothelins can act to increase vascular tone positive regulation of vasoconstriction GO:0045907 vascular system BTO:0001085 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP 4/21/2014 3 3300009404 Jenn P14138 1908 EDN3 Homo sapiens 9606 Comment/tissue specificity Endothelins can act to increase vascular tone positive regulation of vasoconstriction GO:0045907 vasculature UBERON:0002049 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP 4/21/2014 3 3300009405 Rose/Faith P14138 1908 EDN3 Homo sapiens 9606 Comment/Involvement in disease A17T; In HSCR4; dbSNP:rs11570255. MIM:613712 Hirschsprung's disease DOID:10487 VAR_009078 rs11570255 Y Y ECO:0000006 PubMed:9359047 submission: UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 142 3300009592 Rose/Faith P14138 1908 EDN3 Homo sapiens 9606 Comment/Involvement in disease A17T; In HSCR4; dbSNP:rs11570255. MIM:613712 Hirschsprung's disease SNOMEDCT:156957008 VAR_009078 rs11570255 Y Y ECO:0000006 PubMed:9359047 submission: UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 142 3300009594 Rose/Faith P14138 1908 EDN3 Homo sapiens 9606 Comment/Involvement in disease A224T; In HSCR4; dbSNP:rs11570351. MIM:613712 Hirschsprung's disease DOID:10487 VAR_009079 rs11570351 Y Y ECO:0000006 PubMed:9359047 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 142 3300009596 Rose/Faith P14138 1908 EDN3 Homo sapiens 9606 Comment/Involvement in disease A224T; In HSCR4; dbSNP:rs11570351. MIM:613712 Hirschsprung's disease SNOMEDCT:156957008 VAR_009079 rs11570351 Y Y ECO:0000006 PubMed:9359047 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 142 3300009598 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/Involvement in disease E17K; In PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592. Proteus syndrome DOID:13482 VAR_055422 rs121434592 Y Y ECO:0000006 PubMed:19713527 PubMed:18954143 PubMed:21793738 PubMed:17611497 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 166 3300009606 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/Involvement in disease E17K; In PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592. Proteus syndrome SNOMEDCT:23150001 VAR_055422 rs121434592 Y Y ECO:0000006 PubMed:19713527 PubMed:18954143 PubMed:21793738 PubMed:17611497 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 166 3300009608 Mike P29474 4846 NOS3 Homo sapiens 9606 Comment/Involvement in disease E298D; In susceptibility to coronary spasm; dbSNP:rs1799983. coronary artery vasospasm DOID:11840 VAR_008037 rs1799983 Y Y ECO:0000006 PubMed:17264164 submission: PubMed:14702039 PubMed:15489334 PubMed:9737779 PubMed:11740345 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 162 3300009635 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/Involvement in disease P113Q; In obesity; dbSNP:rs1800571. MIM:601665 obesity DOID:9970 VAR_010724 rs1800571 Y Y ECO:0000006 PubMed:9753710 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 184 3300009642 Rose/Faith P24530 1910 EDNRB Homo sapiens 9606 Comment/Involvement in disease G57S; Associated with increased susceptibility for Hirschsprung disease; sex-dependent gene dosage effect; dbSNP:rs1801710. Hirschsprung's disease DOID:10487 VAR_003469 rs1801710 Y Y ECO:0000006 PubMed:8852660 PubMed:8630503 PubMed:11471546 PubMed:9760196 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300009647 Rose/Faith P24530 1910 EDNRB Homo sapiens 9606 Comment/Involvement in disease G57S; Associated with increased susceptibility for Hirschsprung disease; sex-dependent gene dosage effect; dbSNP:rs1801710. Hirschsprung's disease SNOMEDCT:156957008 VAR_003469 rs1801710 Y Y ECO:0000006 PubMed:8852660 PubMed:8630503 PubMed:11471546 PubMed:9760196 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300009649 Rose/Faith P19099 1585 CYP11B2 Homo sapiens 9606 Comment/Involvement in disease R181W; In CMO-2 deficiency; reduces 18-hydroxylase and abolishes 18-oxidase activities; leaves 11 beta-hydroxylase activity intact; dbSNP:rs28931609. MIM:610600 Hyporeninemic hypoaldosteronism SNOMEDCT:236464008 VAR_001267 rs28931609 Y Y ECO:0000006 PubMed:1594605 PubMed:1346492 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300009668 Rose/Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease R448H; In AH4; dbSNP:rs28934586. MIM:202010 congenital adrenal hyperplasia DOID:12255 VAR_001265 rs28934586 Y Y ECO:0000006 PubMed:2022736 PubMed:16046588 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300009670 Rose/Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease R448H; In AH4; dbSNP:rs28934586. MIM:202010 Congenital adrenal hyperplasia SNOMEDCT:237751000 VAR_001265 rs28934586 Y Y ECO:0000006 PubMed:2022736 PubMed:16046588 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300009672 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease R411Q; In HHT2; retained in the endoplasmic reticulum; dbSNP:rs28936398. endoplasmic reticulum GO:0005783 MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_006213 rs28936398 Y Y ECO:0000006 PubMed:8640225 PubMed:14684682 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300009674 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease M376R; In HHT2; dbSNP:rs28936399. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_006212 rs28936399 Y Y ECO:0000006 PubMed:8640225 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300009676 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease I398N; In HHT2; dbSNP:rs28936400. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026805 rs28936400 Y Y ECO:0000006 PubMed:11170071 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300009678 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease R374W; In HHT2; dbSNP:rs28936401. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_006211 rs28936401 Y Y ECO:0000006 PubMed:9245985 PubMed:11170071 PubMed:14684682 PubMed:15712270 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300009680 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease W399S; In HHT2; dbSNP:rs28936402. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026806 rs28936402 Y Y ECO:0000006 PubMed:14684682 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300009682 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/Involvement in disease Q314P; In colon cancer; sporadic; somatic mutation; loss of ligand-binding; dbSNP:rs28936407. MIM:114500 colon cancer DOID:219 VAR_010725 rs28936407 Y Y ECO:0000006 PubMed:10394368 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 184 3300009684 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/Involvement in disease R316H; In colon cancer; sporadic; somatic mutation; partial loss of ligand-binding; dbSNP:rs28936407. MIM:114500 colon cancer DOID:219 VAR_010726 rs28936407 Y Y ECO:0000006 PubMed:10394368 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 184 3300009686 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease G211D; In HHT2; retained in the endoplasmic reticulum; dbSNP:rs28936687. endoplasmic reticulum GO:0005783 MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026788 rs28936687 Y Y ECO:0000006 PubMed:14684682 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300009688 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease C344Y; In HHT2; retained in the endoplasmic reticulum; dbSNP:rs28936688. endoplasmic reticulum GO:0005783 MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026798 rs28936688 Y Y ECO:0000006 PubMed:10767348 PubMed:14684682 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300009690 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease E1367K; In EVR4; autosomal recessive; dbSNP:rs28939709. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_021224 rs28939709 Y Y ECO:0000006 PubMed:15346351 PubMed:16252235 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009692 Rose/Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease H337R; In CPS1D; modestly decreases enzyme activity; dbSNP:rs28940283. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_014077 rs28940283 Y Y ECO:0000006 PubMed:11474210 PubMed:20578160 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300009694 Rose/Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/miscellaneous R754C; In HSCRCDAD; dbSNP:rs3026906. MIM:613870 VAR_026747 rs3026906 Y Y ECO:0000006 PubMed:9915973 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 136 3300009696 Faith P01019 183 AGT Homo sapiens 9606 Comment/Involvement in disease L43F; Associated with susceptibility to pre-eclampsia; alters the reactions with renin and angiotensin-converting enzyme; dbSNP:rs41271499. pre-eclampsia DOID:10591 VAR_022933 rs41271499 Y Y ECO:0000006 PubMed:7744780 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 162 3300009726 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous P23L; In DYT5; dbSNP:rs41298432. MIM:128230 VAR_002633 rs41298432 Y Y ECO:0000006 PubMed:9328244 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300009728 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous K224R; In GCH1D and DYT5; phenotype presenting with dystonia and myoclonus; dbSNP:rs41298442. MIM:128230 VAR_002648 rs41298442 Y Y ECO:0000006 PubMed:9667588 PubMed:8852666 PubMed:12391354 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300009730 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/Involvement in disease K224R; In GCH1D and DYT5; phenotype presenting with dystonia and myoclonus; dbSNP:rs41298442. MIM:233910 GTP cyclohydrolase I deficiency SNOMEDCT:23447005 VAR_002648 rs41298442 Y Y ECO:0000006 PubMed:9667588 PubMed:8852666 PubMed:12391354 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300009732 Rose/Faith P19099 1585 CYP11B2 Homo sapiens 9606 Comment/Involvement in disease V386A; In CMO-2 deficiency; small but consistent reduction in the production of 18-hydroxycorticosterone; dbSNP:rs4541. MIM:610600 Hyporeninemic hypoaldosteronism SNOMEDCT:236464008 VAR_001269 rs4541 Y Y ECO:0000006 PubMed:10391209 PubMed:10391210 PubMed:1594605 PubMed:1346492 PubMed:9814506 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300009752 Faith P01019 183 AGT Homo sapiens 9606 Comment/Involvement in disease T207M; Associated with hypertension; dbSNP:rs4762. hypertension DOID:10763 VAR_007093 rs4762 Y Y ECO:0000006 PubMed:1394429 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 162 3300009759 Faith P01019 183 AGT Homo sapiens 9606 Comment/Involvement in disease L244R; Associated with susceptibility to hypertension; dbSNP:rs5041. hypertension DOID:10763 VAR_007095 rs5041 Y Y ECO:0000006 PubMed:7607642 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 162 3300009769 Rose/Faith P24530 1910 EDNRB Homo sapiens 9606 Comment/Involvement in disease S305N; In HSCR2; familial; dbSNP:rs5352. MIM:600155 Hirschsprung's disease DOID:10487 VAR_003472 rs5352 Y Y ECO:0000006 PubMed:8852659 submission: UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300009790 Faith P01019 183 AGT Homo sapiens 9606 Comment/Involvement in disease Y281C; Associated with susceptibility to hypertension; alters the structure, glycosylation and secretion of angiotensinogen; dbSNP:rs56073403. hypertension DOID:10763 VAR_007097 rs56073403 Y Y ECO:0000006 PubMed:1394429 PubMed:7607642 PubMed:8621667 UniProtKB alters glycosylation and secretion of angiotensinogen#ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 162 3300009793 Faith P01019 183 AGT Homo sapiens 9606 Comment/Involvement in disease M268T; Associated with essential hypertension and pre-eclampsia; dbSNP:rs699. hypertension DOID:10763 VAR_007096 rs699 Y Y ECO:0000006 PubMed:1394429 PubMed:8513325 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 162 3300009803 Faith P01019 183 AGT Homo sapiens 9606 Comment/Involvement in disease M268T; Associated with essential hypertension and pre-eclampsia; dbSNP:rs699. pre-eclampsia DOID:10591 VAR_007096 rs699 Y Y ECO:0000006 PubMed:1394429 PubMed:8513325 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 162 3300009805 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous 15-20; Found in a family with osteoporosis pseudoglioma syndrome; impairs protein trafficking to the endoplasmic reticulum and cell membrane. MIM:259770 VAR_058582 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009820 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease A29T; In primary osteoporosis. MIM:166710 osteoporosis DOID:11476 VAR_063941 Y Y ECO:0000006 PubMed:15824851 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009824 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease D111Y; In OPTA1. MIM:607634 osteopetrosis DOID:13533 VAR_021807 Y Y ECO:0000006 PubMed:12579474 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009827 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease L145F; In EVR4. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_063943 Y Y ECO:0000006 PubMed:15981244 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009829 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous R154M; In HBM. MIM:601884 VAR_063944 Y Y ECO:0000006 PubMed:15824861 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009831 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease G171R; In OPTA1. MIM:607634 osteopetrosis DOID:13533 VAR_021808 Y Y ECO:0000006 PubMed:12579474 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009833 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous G171V; In HBM; also in HBM individuals with enlarged mandible and torus palatinus; no enhancement of DKK1 binding by MESD resulting in impaired inhibition of Wnt signaling by DKK1. MIM:601884 VAR_021809 Y Y ECO:0000006 PubMed:19746449 PubMed:11741193 PubMed:12015390 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009835 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease T173M; In EVR4; an individual with abnormal retinal vasculature and retinal folds. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_018465 Y Y ECO:0000006 PubMed:15024691 PubMed:16252235 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009838 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous D203N; In OPPG. MIM:259770 VAR_063945 Y Y ECO:0000006 PubMed:16252235 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009840 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease A214T; In WENHY. MIM:144750 Worth's syndrome DOID:0080037 VAR_021810 Y Y ECO:0000006 PubMed:12579474 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009842 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease A214V; In WENHY. MIM:144750 Worth's syndrome DOID:0080037 VAR_021811 Y Y ECO:0000006 PubMed:12579474 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009844 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease A242T; In OPTA1, VBCH2 and WENHY. MIM:607634 osteopetrosis DOID:13533 VAR_021812 Y Y ECO:0000006 PubMed:12579474 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009846 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease A242T; In OPTA1, VBCH2 and WENHY. MIM:607636 SOST-related sclerosing bone dysplasia DOID:0080036 VAR_021812 Y Y ECO:0000006 PubMed:12579474 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009848 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease A242T; In OPTA1, VBCH2 and WENHY. MIM:144750 Worth's syndrome DOID:0080037 VAR_021812 Y Y ECO:0000006 PubMed:12579474 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009850 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous T244M; In OPPG; appears to traffic less well than does the wild-type protein; appears to be postranslationally modified similar to wild-type protein; is unable to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal. MIM:259770 VAR_063946 Y Y ECO:0000006 PubMed:16252235 UniProtKB f/u on phenotype#ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009852 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease T253I; In OPTA1. MIM:607634 osteopetrosis DOID:13533 VAR_021813 Y Y ECO:0000006 PubMed:12579474 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009854 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous M282V; In HBM; lowered LRP5-mediated Wnt signaling. No effect on DKK1 binding. MIM:601884 VAR_063412 Y Y UniProtKB f/u on phenotype#ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009856 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous S307F; In OPPG. MIM:259770 VAR_063947 Y Y ECO:0000006 PubMed:16252235 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009858 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous R348W; In OPPG. MIM:259770 VAR_063948 Y Y ECO:0000006 PubMed:16252235 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009860 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous R353Q; In OPPG. MIM:259770 VAR_063949 Y Y ECO:0000006 PubMed:16252235 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009862 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease S356L; In idiopathic osteoporosis and OPPG; appears to traffic comparably than does the wild-type protein; appears to be postranslationally modified similar to wild-type protein; is unable to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal. MIM:259750 idiopathic juvenile osteoporosis DOID:12559 VAR_063950 Y Y ECO:0000006 PubMed:16252235 PubMed:16234968 UniProtKB f/u on phenotype#ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009864 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous S356L; In idiopathic osteoporosis and OPPG; appears to traffic comparably than does the wild-type protein; appears to be postranslationally modified similar to wild-type protein; is unable to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal. MIM:259770 VAR_063950 Y Y ECO:0000006 PubMed:16252235 PubMed:16234968 UniProtKB f/u on phenotype#ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009866 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous T390K; In OPPG; is unable to traffic normally; appears to be postranslationally modified similar to wild-type protein; is unable to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal. MIM:259770 VAR_063951 Y Y ECO:0000006 PubMed:16252235 UniProtKB f/u on phenotype#ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009868 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous A400E; In OPPG. MIM:259770 VAR_063952 Y Y ECO:0000006 PubMed:16252235 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009870 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous G404R; In OPPG; appears to traffic less well than does the wild-type protein; appears to be postranslationally modified similar to wild-type protein; has 50% of wild-type activity to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal. MIM:259770 VAR_063953 Y Y ECO:0000006 PubMed:16252235 UniProtKB f/u on phenotype#ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009872 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous T409A; In OPPG. MIM:259770 VAR_063954 Y Y ECO:0000006 PubMed:18602879 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009874 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous D434N; In OPPG; appears to traffic less well than does the wild-type protein; appears to be postranslationally modified similar to wild-type protein; has 50% of wild-type activity to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal. MIM:259770 VAR_063955 Y Y ECO:0000006 PubMed:16252235 UniProtKB f/u on phenotype#ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009876 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease E441K; In EVR4. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_063956 Y Y ECO:0000006 PubMed:20340138 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009878 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease R444C; In EVR4; associated in a EVR1 patient with mutation GLN-417 in FZD4. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_063957 Y Y ECO:0000006 PubMed:15981244 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009880 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease S455L; In idiopathic osteoporosis; shows an inhibitory effect on Wnt signal transduction. MIM:259750 idiopathic juvenile osteoporosis DOID:12559 VAR_063958 Y Y ECO:0000006 PubMed:16234968 UniProtKB f/u on phenotype#ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009882 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous E460K; In OPPG. MIM:259770 VAR_063959 Y Y ECO:0000006 PubMed:16252235 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009884 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous W478R; In OPPG. MIM:259770 VAR_063960 Y Y ECO:0000006 PubMed:16679074 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009886 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous R494Q; In OPPG. MIM:259770 VAR_021814 Y Y ECO:0000006 PubMed:16252235 PubMed:11719191 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009888 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous W504C; In OPPG. MIM:259770 VAR_063961 Y Y ECO:0000006 PubMed:16679074 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009890 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease D511A; In EVR4. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_063962 Y Y ECO:0000006 PubMed:19324841 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009892 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous G520V; In OPPG; appears to traffic comparably than does the wild-type protein; appears to be postranslationally modified similar to wild-type protein; is unable to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal. MIM:259770 VAR_063963 Y Y ECO:0000006 PubMed:16252235 UniProtKB f/u on phenotype#ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009894 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease A522T; In EVR4. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_063964 Y Y ECO:0000006 PubMed:15981244 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009896 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous N531I; In OPPG. MIM:259770 VAR_063965 Y Y ECO:0000006 PubMed:17437160 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009898 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease T535M; In EVR4; autosomal recessive. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_063966 Y Y ECO:0000006 PubMed:15981244 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009900 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease G550R; In EVR4; autosomal recessive. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_063967 Y Y ECO:0000006 PubMed:16929062 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009902 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease R570Q; In EVR4; autosomal recessive; has significantly reduced Wnt or Norrin signal transduction. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_021222 Y Y ECO:0000006 PubMed:15346351 PubMed:16252235 UniProtKB f/u on phenotype#ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009904 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous R570W; In OPPG. MIM:259770 VAR_021815 Y Y ECO:0000006 PubMed:16252235 PubMed:11719191 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009906 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease G610R; In EVR4 and OPPG; appears to traffic less well than does the wild-type protein; appears to be postranslationally modified similar to wild-type protein; has 60% of wild-type activity to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_063968 Y Y ECO:0000006 PubMed:16252235 PubMed:15981244 UniProtKB f/u on phenotype#ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009908 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous G610R; In EVR4 and OPPG; appears to traffic less well than does the wild-type protein; appears to be postranslationally modified similar to wild-type protein; has 60% of wild-type activity to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal. MIM:259770 VAR_063968 Y Y ECO:0000006 PubMed:16252235 PubMed:15981244 UniProtKB f/u on phenotype#ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009910 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease F617C; In EVR4; autosomal recessive. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_063969 Y Y ECO:0000006 PubMed:15981244 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009912 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous D683N; In OPPG. MIM:259770 VAR_063970 Y Y ECO:0000006 PubMed:16252235 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009914 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous Y733H; In OPPG. MIM:259770 VAR_063971 Y Y ECO:0000006 PubMed:16252235 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009916 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease R752G; In EVR4; autosomal recessive. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_021223 Y Y ECO:0000006 PubMed:15346351 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009918 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease T798A; In EVR4. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_063972 Y Y ECO:0000006 PubMed:15981244 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009920 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease R805W; In EVR4. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_063973 Y Y ECO:0000006 PubMed:19324841 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009922 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease R1036Q; In primary osteoporosis. MIM:166710 osteoporosis DOID:11476 VAR_063974 Y Y ECO:0000006 PubMed:15824851 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009924 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous D1099Y; In OPPG. MIM:259770 VAR_063975 Y Y ECO:0000006 PubMed:16252235 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009926 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous R1113C; In OPPG. MIM:259770 VAR_063976 Y Y ECO:0000006 PubMed:16252235 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009928 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease N1121D; In EVR4. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_063977 Y Y ECO:0000006 PubMed:15981244 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009930 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease Y1168H; In EVR4; an individual with total retinal detachment and retinoschisis; is unable to transduce Wnt or Norrin signal transduction. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_018466 Y Y ECO:0000006 PubMed:15024691 PubMed:16252235 UniProtKB f/u: retinoschisis#ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009932 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease C1253F; In EVR4. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_063978 Y Y ECO:0000006 PubMed:20340138 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009934 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease C1361G; In EVR4; autosomal dominant; has mildly reduced Wnt or Norrin signal transduction. MIM:601813 exudative vitreoretinopathy DOID:0050535 VAR_018467 Y Y ECO:0000006 PubMed:15024691 PubMed:16252235 UniProtKB f/u on phenotype#ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009936 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/miscellaneous G1401D; In OPPG. MIM:259770 VAR_063979 Y Y ECO:0000006 PubMed:16252235 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 126 3300009938 Mike P00797 5972 REN Homo sapiens 9606 Comment/miscellaneous D104N; In RTD. MIM:267430 VAR_035088 Y Y ECO:0000006 PubMed:16116425 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 165 3300009954 Mike P00797 5972 REN Homo sapiens 9606 Comment/miscellaneous R230K; In RTD. MIM:267430 VAR_035087 Y Y ECO:0000006 PubMed:16116425 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 165 3300009956 Faith P01019 183 AGT Homo sapiens 9606 Comment/Involvement in disease T242I; Associated with susceptibility to hypertension. hypertension DOID:10763 VAR_007094 Y Y ECO:0000006 PubMed:7607642 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 162 3300009959 Faith P01019 183 AGT Homo sapiens 9606 Comment/miscellaneous R375Q; In RTD. MIM:267430 VAR_035433 Y Y ECO:0000006 PubMed:16116425 UniProtKB #ORIGINAL data type: Feature/sequence variant DGA, BP 4/3/2013 162 3300009961 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease 76-93; In EDS7B. MIM:130060 Ehlers-Danlos syndrome DOID:13359 VAR_001851 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300009970 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease 76-93; In EDS7B. MIM:130060 Ehlers-Danlos syndrome type VII SNOMEDCT:238849005 VAR_001851 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300009972 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease 181-198; In OI4. MIM:166220 osteogenesis imperfecta DOID:12347 VAR_030117 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300009974 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease 181-198; In OI4. MIM:166220 Osteogenesis imperfecta with normal sclerae, dominant form SNOMEDCT:50937002 VAR_030117 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300009976 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G193S; In OI4. MIM:166220 osteogenesis imperfecta DOID:12347 VAR_063343 Y Y ECO:0000006 PubMed:16879195 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300009978 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G193S; In OI4. MIM:166220 Osteogenesis imperfecta with normal sclerae, dominant form SNOMEDCT:50937002 VAR_063343 Y Y ECO:0000006 PubMed:16879195 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300009980 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G202R; In OI4. MIM:166220 osteogenesis imperfecta DOID:12347 VAR_063344 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300009982 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G202R; In OI4. MIM:166220 Osteogenesis imperfecta with normal sclerae, dominant form SNOMEDCT:50937002 VAR_063344 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300009984 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G211D; In OI1. MIM:166200 osteogenesis imperfecta DOID:12347 VAR_001852 Y Y ECO:0000006 PubMed:8829649 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300009986 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G211D; In OI1. MIM:166200 Osteogenesis imperfecta type I SNOMEDCT:385482004 VAR_001852 Y Y ECO:0000006 PubMed:8829649 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300009988 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease R234C; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063345 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300009990 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease R234C; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063345 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300009992 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G247R; In OI1. MIM:166200 osteogenesis imperfecta DOID:12347 VAR_063346 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300009994 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G247R; In OI1. MIM:166200 Osteogenesis imperfecta type I SNOMEDCT:385482004 VAR_063346 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300009996 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G253D; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063347 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300009998 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G253D; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063347 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010000 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G256V; In OI4. MIM:166220 osteogenesis imperfecta DOID:12347 VAR_063348 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010002 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G256V; In OI4. MIM:166220 Osteogenesis imperfecta with normal sclerae, dominant form SNOMEDCT:50937002 VAR_063348 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010004 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G283R; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063349 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010006 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G283R; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063349 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010008 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G319R; In OI1. MIM:166200 osteogenesis imperfecta DOID:12347 VAR_063350 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010010 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G319R; In OI1. MIM:166200 Osteogenesis imperfecta type I SNOMEDCT:385482004 VAR_063350 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010012 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G325E; In OI4. MIM:166220 osteogenesis imperfecta DOID:12347 VAR_063351 Y Y ECO:0000006 PubMed:16705691 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010014 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G325E; In OI4. MIM:166220 Osteogenesis imperfecta with normal sclerae, dominant form SNOMEDCT:50937002 VAR_063351 Y Y ECO:0000006 PubMed:16705691 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010016 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G328S; In OI1, OI3 AND OI4. MIM:166220 osteogenesis imperfecta DOID:12347 VAR_001855 Y Y ECO:0000006 PubMed:16705691 PubMed:7860070 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010018 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G328S; In OI1, OI3 AND OI4. MIM:166220 Osteogenesis imperfecta with normal sclerae, dominant form SNOMEDCT:50937002 VAR_001855 Y Y ECO:0000006 PubMed:16705691 PubMed:7860070 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010020 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G328S; In OI1, OI3 AND OI4. MIM:166200 osteogenesis imperfecta DOID:12347 Y Y PENTACON #ORIGINAL data type: Feature/sequence variant BP, DGA 4/21/2014 3 3300010022 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G328S; In OI1, OI3 AND OI4. MIM:166200 Osteogenesis imperfecta type I SNOMEDCT:385482004 Y Y PENTACON #ORIGINAL data type: Feature/sequence variant BP, DGA 4/21/2014 3 3300010024 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G328S; In OI1, OI3 AND OI4. MIM:259420 osteogenesis imperfecta DOID:12347 Y Y PENTACON #ORIGINAL data type: Feature/sequence variant BP, DGA 4/21/2014 3 3300010026 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G328S; In OI1, OI3 AND OI4. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 Y Y PENTACON #ORIGINAL data type: Feature/sequence variant BP, DGA 4/21/2014 3 3300010028 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G331D; In OI3. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_008119 Y Y ECO:0000006 PubMed:10408781 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010030 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G331D; In OI3. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_008119 Y Y ECO:0000006 PubMed:10408781 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010032 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G334C; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001856 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010034 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G334C; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001856 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010036 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G337C; In OI3. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_001857 Y Y ECO:0000006 PubMed:10408781 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010038 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G337C; In OI3. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_001857 Y Y ECO:0000006 PubMed:10408781 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010040 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G337S; In OI3. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_001858 Y Y ECO:0000006 PubMed:8829649 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010042 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G337S; In OI3. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_001858 Y Y ECO:0000006 PubMed:8829649 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010044 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease 345; In OI3. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_001859 Y Y ECO:0000006 PubMed:8444468 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010046 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease 345; In OI3. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_001859 Y Y ECO:0000006 PubMed:8444468 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010048 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G349C; In OI3. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_001860 Y Y ECO:0000006 PubMed:1990009 PubMed:8456807 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010050 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G349C; In OI3. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_001860 Y Y ECO:0000006 PubMed:1990009 PubMed:8456807 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010052 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G358S; In OI3. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_063352 Y Y ECO:0000006 PubMed:16705691 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010054 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G358S; In OI3. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_063352 Y Y ECO:0000006 PubMed:16705691 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010056 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G397E; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063353 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010058 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G397E; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063353 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010060 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G409V; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001861 Y Y ECO:0000006 PubMed:10627137 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010062 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G409V; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001861 Y Y ECO:0000006 PubMed:10627137 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010064 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G433E; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001862 Y Y ECO:0000006 PubMed:7906591 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010066 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G433E; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001862 Y Y ECO:0000006 PubMed:7906591 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010068 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G454C; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063354 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010070 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G454C; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063354 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010072 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G457L; In OI2; requires 2 nucleotide substitutions. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063355 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010074 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G457L; In OI2; requires 2 nucleotide substitutions. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063355 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010076 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G460S; In OI3. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_001863 Y Y ECO:0000006 PubMed:8829649 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010078 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G460S; In OI3. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_001863 Y Y ECO:0000006 PubMed:8829649 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010080 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease 461-466; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063356 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010082 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease 461-466; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063356 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010084 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G511D; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001864 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010086 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G511D; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001864 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010088 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G517R; In OI3. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_001865 Y Y ECO:0000006 PubMed:7520724 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010090 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G517R; In OI3. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_001865 Y Y ECO:0000006 PubMed:7520724 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010092 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G526E; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063357 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010094 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G526E; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063357 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010096 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G547R; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001866 Y Y ECO:0000006 PubMed:1284475 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010098 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G547R; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001866 Y Y ECO:0000006 PubMed:1284475 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010100 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G562C; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001868 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010102 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G562C; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001868 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010104 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G562V; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063358 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010106 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G562V; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063358 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010108 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G586R; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001869 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010110 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G586R; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001869 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010112 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G592S; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001870 Y Y ECO:0000006 PubMed:7959683 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010114 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G592S; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001870 Y Y ECO:0000006 PubMed:7959683 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010116 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G601S; In OI. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063359 Y Y ECO:0000006 PubMed:16705691 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010118 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G601S; In OI. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063359 Y Y ECO:0000006 PubMed:16705691 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010120 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G625D; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063360 Y Y ECO:0000006 PubMed:16879195 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010122 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G625D; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063360 Y Y ECO:0000006 PubMed:16879195 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010124 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G634V; In OI4. MIM:166220 osteogenesis imperfecta DOID:12347 VAR_001871 Y Y ECO:0000006 PubMed:8401517 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010126 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G634V; In OI4. MIM:166220 Osteogenesis imperfecta with normal sclerae, dominant form SNOMEDCT:50937002 VAR_001871 Y Y ECO:0000006 PubMed:8401517 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010128 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G637D; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001872 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010130 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G637D; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001872 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010132 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G640S; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001873 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010134 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G640S; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001873 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010136 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G670D; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001874 Y Y ECO:0000006 PubMed:1385413 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010138 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G670D; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001874 Y Y ECO:0000006 PubMed:1385413 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010140 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease 676-855; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_030120 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010142 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease 676-855; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_030120 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010144 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G676D; In OI3. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_063361 Y Y ECO:0000006 PubMed:16705691 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010146 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G676D; In OI3. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_063361 Y Y ECO:0000006 PubMed:16705691 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010148 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G676V; In OI3 and OI4. MIM:166220 osteogenesis imperfecta DOID:12347 VAR_001875 Y Y ECO:0000006 PubMed:7881420 PubMed:2064612 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010150 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G676V; In OI3 and OI4. MIM:166220 Osteogenesis imperfecta with normal sclerae, dominant form SNOMEDCT:50937002 VAR_001875 Y Y ECO:0000006 PubMed:7881420 PubMed:2064612 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010152 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G676V; In OI3 and OI4. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_001875 Y Y ECO:0000006 PubMed:7881420 PubMed:2064612 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010154 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G676V; In OI3 and OI4. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_001875 Y Y ECO:0000006 PubMed:7881420 PubMed:2064612 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010156 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease 705-707; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063362 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010158 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease 705-707; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063362 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010160 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease R708Q; In Marfan syndrome. Marfan syndrome DOID:14323 VAR_001876 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010162 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease R708Q; In Marfan syndrome. Marfan's syndrome SNOMEDCT:19346006 VAR_001876 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010164 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G715D; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001877 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010166 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G715D; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001877 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010168 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G730C; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001878 Y Y ECO:0000006 PubMed:7891382 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010170 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G730C; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001878 Y Y ECO:0000006 PubMed:7891382 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010172 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G733C; In OI1. MIM:166200 osteogenesis imperfecta DOID:12347 VAR_063363 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010174 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G733C; In OI1. MIM:166200 Osteogenesis imperfecta type I SNOMEDCT:385482004 VAR_063363 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010176 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G736C; In OI1; mild. MIM:166200 osteogenesis imperfecta DOID:12347 VAR_001879 Y Y ECO:0000006 PubMed:1990009 PubMed:8456807 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010178 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G736C; In OI1; mild. MIM:166200 Osteogenesis imperfecta type I SNOMEDCT:385482004 VAR_001879 Y Y ECO:0000006 PubMed:1990009 PubMed:8456807 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010180 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G739R; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063364 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010182 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G739R; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063364 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010184 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G748V; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063365 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010186 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G748V; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063365 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010188 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G751S; In OI4. MIM:166220 osteogenesis imperfecta DOID:12347 VAR_001881 Y Y ECO:0000006 PubMed:2052622 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010190 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G751S; In OI4. MIM:166220 Osteogenesis imperfecta with normal sclerae, dominant form SNOMEDCT:50937002 VAR_001881 Y Y ECO:0000006 PubMed:2052622 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010192 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G754C; In OI4. MIM:166220 osteogenesis imperfecta DOID:12347 VAR_063366 Y Y ECO:0000006 PubMed:16879195 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010194 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G754C; In OI4. MIM:166220 Osteogenesis imperfecta with normal sclerae, dominant form SNOMEDCT:50937002 VAR_063366 Y Y ECO:0000006 PubMed:16879195 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010196 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G754R; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001882 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010198 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G754R; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001882 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010200 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G766V; In OI4. MIM:166220 osteogenesis imperfecta DOID:12347 VAR_001883 Y Y ECO:0000006 PubMed:7693712 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010202 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G766V; In OI4. MIM:166220 Osteogenesis imperfecta with normal sclerae, dominant form SNOMEDCT:50937002 VAR_001883 Y Y ECO:0000006 PubMed:7693712 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010204 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G778S; In OI3. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_001884 Y Y ECO:0000006 PubMed:7720740 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010206 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G778S; In OI3. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_001884 Y Y ECO:0000006 PubMed:7720740 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010208 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G784R; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001885 Y Y ECO:0000006 PubMed:1874719 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010210 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G784R; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001885 Y Y ECO:0000006 PubMed:1874719 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010212 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G787C; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001886 Y Y ECO:0000006 PubMed:10627137 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010214 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G787C; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001886 Y Y ECO:0000006 PubMed:10627137 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010216 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G790D; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001887 Y Y ECO:0000006 PubMed:8182080 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010218 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G790D; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001887 Y Y ECO:0000006 PubMed:8182080 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010220 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G796S; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001888 Y Y ECO:0000006 PubMed:7693712 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010222 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G796S; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001888 Y Y ECO:0000006 PubMed:7693712 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010224 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease P798PP; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063367 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010226 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease P798PP; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063367 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010228 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease 806-811; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063368 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010230 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease 806-811; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063368 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010232 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G811GPPG; In OI4. MIM:166220 osteogenesis imperfecta DOID:12347 VAR_063369 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010234 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G811GPPG; In OI4. MIM:166220 Osteogenesis imperfecta with normal sclerae, dominant form SNOMEDCT:50937002 VAR_063369 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010236 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G820S; In OI3. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_063370 Y Y ECO:0000006 PubMed:16705691 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010238 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G820S; In OI3. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_063370 Y Y ECO:0000006 PubMed:16705691 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010240 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G835C; In OI3. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_063371 Y Y ECO:0000006 PubMed:16879195 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010242 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G835C; In OI3. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_063371 Y Y ECO:0000006 PubMed:16879195 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010244 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G835S; In OI1. MIM:166200 osteogenesis imperfecta DOID:12347 VAR_001890 Y Y ECO:0000006 PubMed:8829649 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010246 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G835S; In OI1. MIM:166200 Osteogenesis imperfecta type I SNOMEDCT:385482004 VAR_001890 Y Y ECO:0000006 PubMed:8829649 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010248 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G856R; In OI3. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_063372 Y Y ECO:0000006 PubMed:16705691 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010250 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G856R; In OI3. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_063372 Y Y ECO:0000006 PubMed:16705691 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010252 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G856V; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063373 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010254 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G856V; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063373 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010256 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G877C; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001891 Y Y ECO:0000006 submission: UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010258 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G877C; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001891 Y Y ECO:0000006 submission: UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010260 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G892D; In OI3 and OI4. MIM:166220 osteogenesis imperfecta DOID:12347 VAR_001892 Y Y ECO:0000006 PubMed:8800927 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010262 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G892D; In OI3 and OI4. MIM:166220 Osteogenesis imperfecta with normal sclerae, dominant form SNOMEDCT:50937002 VAR_001892 Y Y ECO:0000006 PubMed:8800927 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010264 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G892D; In OI3 and OI4. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_001892 Y Y ECO:0000006 PubMed:8800927 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010266 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G892D; In OI3 and OI4. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_001892 Y Y ECO:0000006 PubMed:8800927 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010268 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G895D; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001893 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010270 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G895D; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001893 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010272 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G949S; In OI3; moderate. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_001894 Y Y ECO:0000006 PubMed:18996919 PubMed:8081394 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010274 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G949S; In OI3; moderate. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_001894 Y Y ECO:0000006 PubMed:18996919 PubMed:8081394 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010276 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G955D; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063374 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010278 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G955D; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063374 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010280 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G955S; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001895 Y Y ECO:0000006 PubMed:2777764 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010282 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G955S; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001895 Y Y ECO:0000006 PubMed:2777764 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010284 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G973V; In OI3. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_008120 Y Y ECO:0000006 PubMed:10408781 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010286 Rose P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G973V; In OI3. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_008120 Y Y ECO:0000006 PubMed:10408781 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010288 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G982D; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063375 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010290 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G982D; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063375 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010292 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease P989PVGP; In OI4. MIM:166220 osteogenesis imperfecta DOID:12347 VAR_063376 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010294 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease P989PVGP; In OI4. MIM:166220 Osteogenesis imperfecta with normal sclerae, dominant form SNOMEDCT:50937002 VAR_063376 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010296 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G991V; In OI3. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_063377 Y Y ECO:0000006 PubMed:16879195 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010298 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G991V; In OI3. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_063377 Y Y ECO:0000006 PubMed:16879195 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010300 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G997D; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001896 Y Y ECO:0000006 PubMed:2914942 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010302 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G997D; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001896 Y Y ECO:0000006 PubMed:2914942 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010304 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G1003D; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063378 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010306 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G1003D; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063378 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010308 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G1012S; In OI3 and OI4; moderate. MIM:166220 osteogenesis imperfecta DOID:12347 VAR_001897 Y Y ECO:0000006 PubMed:16705691 PubMed:8094076 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010310 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G1012S; In OI3 and OI4; moderate. MIM:166220 Osteogenesis imperfecta with normal sclerae, dominant form SNOMEDCT:50937002 VAR_001897 Y Y ECO:0000006 PubMed:16705691 PubMed:8094076 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010312 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G1012S; In OI3 and OI4; moderate. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_001897 Y Y ECO:0000006 PubMed:16705691 PubMed:8094076 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010314 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G1012S; In OI3 and OI4; moderate. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_001897 Y Y ECO:0000006 PubMed:16705691 PubMed:8094076 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010316 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G1027E; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063379 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010318 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G1027E; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063379 Y Y ECO:0000006 PubMed:18996919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010320 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease 1058-1062; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_063380 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010322 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease 1058-1062; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_063380 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010324 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G1066D; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001899 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010326 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G1066D; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001899 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010328 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G1078C; In OI2. MIM:166210 osteogenesis imperfecta DOID:12347 VAR_001900 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010330 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G1078C; In OI2. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 VAR_001900 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010332 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G1087D; In OI3. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_063381 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010334 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G1087D; In OI3. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_063381 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010336 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease 1094-1096; In OI4. MIM:166220 osteogenesis imperfecta DOID:12347 VAR_063382 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010338 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease 1094-1096; In OI4. MIM:166220 Osteogenesis imperfecta with normal sclerae, dominant form SNOMEDCT:50937002 VAR_063382 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010340 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G1096A; In OI3. MIM:259420 osteogenesis imperfecta DOID:12347 VAR_001901 Y Y ECO:0000006 PubMed:7749416 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010342 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G1096A; In OI3. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 VAR_001901 Y Y ECO:0000006 PubMed:7749416 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010344 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G1102R; In OI4. MIM:166220 osteogenesis imperfecta DOID:12347 VAR_001902 Y Y ECO:0000006 PubMed:2897363 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010347 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease G1102R; In OI4. MIM:166220 Osteogenesis imperfecta with normal sclerae, dominant form SNOMEDCT:50937002 VAR_001902 Y Y ECO:0000006 PubMed:2897363 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010349 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease A1119T; In a patient with mild osteogenesis imperfecta associated with increased bone mineral density; results in defective type I procollagen processing; incorporation of the immature procollagen into the matrix leads to increased bone matrix mineralization and altered collagen fibril structure. osteogenesis imperfecta DOID:12347 VAR_066386 Y Y ECO:0000006 PubMed:21344539 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010351 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease C1195Y; In OI1. MIM:166200 osteogenesis imperfecta DOID:12347 VAR_063383 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010353 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease C1195Y; In OI1. MIM:166200 Osteogenesis imperfecta type I SNOMEDCT:385482004 VAR_063383 Y Y ECO:0000006 PubMed:16786509 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 157 3300010355 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity P22966-1;Isoform Testis-specific;ACE-T;Position 1-574:Missing;In isoform Testis-specific. testis BTO:0001363 VSP_035120 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB #ORIGINAL data type: Feature/splice variant BP, DGA, AAE 4/3/2013 172 3300010361 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity P22966-1;Isoform Testis-specific;ACE-T;Position 1-574:Missing;In isoform Testis-specific. testis UBERON:0000473 VSP_035120 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB #ORIGINAL data type: Feature/splice variant BP, DGA, AAE 4/3/2013 172 3300010363 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity P22966-1;Isoform Testis-specific;ACE-T;Position 1-574:Missing;In isoform Testis-specific. spermatocyte BTO:0001275 VSP_035120 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB #ORIGINAL data type: Feature/splice variant BP, DGA, AAE 4/3/2013 172 3300010365 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity P22966-1;Isoform Testis-specific;ACE-T;Position 575-641:AGSSRPWQEVLKDMVGLDALDAQPLLKYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGID->MGQGWATAGLPSLLFLLLCYGHPLLVPSQEASQQVTVTHGTSSQATTSSQTTTHQATAHQTSAQSPN;In isoform Testis-specific. testis BTO:0001363 VSP_035121 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB #ORIGINAL data type: Feature/splice variant BP, DGA, AAE 4/3/2013 172 3300010367 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity P22966-1;Isoform Testis-specific;ACE-T;Position 575-641:AGSSRPWQEVLKDMVGLDALDAQPLLKYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGID->MGQGWATAGLPSLLFLLLCYGHPLLVPSQEASQQVTVTHGTSSQATTSSQTTTHQATAHQTSAQSPN;In isoform Testis-specific. testis UBERON:0000473 VSP_035121 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB #ORIGINAL data type: Feature/splice variant BP, DGA, AAE 4/3/2013 172 3300010369 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity P22966-1;Isoform Testis-specific;ACE-T;Position 575-641:AGSSRPWQEVLKDMVGLDALDAQPLLKYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGID->MGQGWATAGLPSLLFLLLCYGHPLLVPSQEASQQVTVTHGTSSQATTSSQTTTHQATAHQTSAQSPN;In isoform Testis-specific. spermatocyte BTO:0001275 VSP_035121 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB #ORIGINAL data type: Feature/splice variant BP, DGA, AAE 4/3/2013 172 3300010371 Faith P14138 1908 EDN3 Homo sapiens 9606 Comment/Involvement in disease Y127C; In WS4B. MIM:613265 Waardenburg's syndrome DOID:9258 VAR_015238 Y Y ECO:0000006 PubMed:12189494 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 142 3300010376 Faith P14138 1908 EDN3 Homo sapiens 9606 Comment/Involvement in disease Y127C; In WS4B. MIM:613265 Waardenburg's syndrome SNOMEDCT:47434006 VAR_015238 Y Y ECO:0000006 PubMed:12189494 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 142 3300010378 Faith P14138 1908 EDN3 Homo sapiens 9606 Comment/Involvement in disease C159F; In WS4B. MIM:613265 Waardenburg's syndrome DOID:9258 VAR_002353 Y Y ECO:0000006 PubMed:8630503 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 142 3300010380 Faith P14138 1908 EDN3 Homo sapiens 9606 Comment/Involvement in disease C159F; In WS4B. MIM:613265 Waardenburg's syndrome SNOMEDCT:47434006 VAR_002353 Y Y ECO:0000006 PubMed:8630503 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 142 3300010382 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/Involvement in disease DYVEKQAS288-295QSVEETAQ; No change in receptor activity and HCoV-229E infection. coronavirus infectious disease DOID:2946 Y Y ECO:0000006 PubMed:11559807 UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 159 3300010386 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/Involvement in disease DYVEKQAS288-295QSVEETAQ; No change in receptor activity and HCoV-229E infection. Human coronavirus 229E SNOMEDCT:407370007 Y Y ECO:0000006 PubMed:11559807 UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 159 3300010388 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/Involvement in disease DYVEKQAS288-295QSVNEQAQ; No change in receptor activity and HCoV-229E infection. coronavirus infectious disease DOID:2946 Y Y ECO:0000006 PubMed:11559807 UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 159 3300010390 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/Involvement in disease DYVEKQAS288-295QSVNEQAQ; No change in receptor activity and HCoV-229E infection. Human coronavirus 229E SNOMEDCT:407370007 Y Y ECO:0000006 PubMed:11559807 UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 159 3300010392 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/Involvement in disease DYVEKQAS288-295QSVNETAQ; Complete loss of receptor activity and blocks HCoV-229E infection. No loss of enzymatic activity. coronavirus infectious disease DOID:2946 Y Y ECO:0000006 PubMed:11559807 UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 159 3300010394 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/Involvement in disease DYVEKQAS288-295QSVNETAQ; Complete loss of receptor activity and blocks HCoV-229E infection. No loss of enzymatic activity. Human coronavirus 229E SNOMEDCT:407370007 Y Y ECO:0000006 PubMed:11559807 UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 159 3300010396 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/Involvement in disease EKQ291-293NKT; Complete loss of receptor activity and blocks HCoV-229E infection. No loss of enzymatic activity. coronavirus infectious disease DOID:2946 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 159 3300010398 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/Involvement in disease EKQ291-293NKT; Complete loss of receptor activity and blocks HCoV-229E infection. No loss of enzymatic activity. Human coronavirus 229E SNOMEDCT:407370007 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 159 3300010400 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/Involvement in disease E291N; No change of receptor activity and HCoV-229E infection. coronavirus infectious disease DOID:2946 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 159 3300010402 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/Involvement in disease E291N; No change of receptor activity and HCoV-229E infection. Human coronavirus 229E SNOMEDCT:407370007 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 159 3300010404 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/Involvement in disease Q293T; No change of receptor activity and HCoV-229E infection. coronavirus infectious disease DOID:2946 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 159 3300010406 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/Involvement in disease Q293T; No change of receptor activity and HCoV-229E infection. Human coronavirus 229E SNOMEDCT:407370007 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 159 3300010408 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/Involvement in disease N818E; Very low receptor activity and HCoV-229E infection. coronavirus infectious disease DOID:2946 Y Y ECO:0000006 PubMed:11559807 UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 159 3300010410 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/Involvement in disease N818E; Very low receptor activity and HCoV-229E infection. Human coronavirus 229E SNOMEDCT:407370007 Y Y ECO:0000006 PubMed:11559807 UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 159 3300010412 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease P42S; In AH4; non-classic. MIM:202010 congenital adrenal hyperplasia DOID:12255 VAR_001260 Y Y ECO:0000006 PubMed:9302260 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010416 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease P42S; In AH4; non-classic. MIM:202010 Congenital adrenal hyperplasia SNOMEDCT:237751000 VAR_001260 Y Y ECO:0000006 PubMed:9302260 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010418 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease P94L; In AH4. MIM:202010 congenital adrenal hyperplasia DOID:12255 VAR_065666 Y Y ECO:0000006 PubMed:16046588 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010420 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease P94L; In AH4. MIM:202010 Congenital adrenal hyperplasia SNOMEDCT:237751000 VAR_065666 Y Y ECO:0000006 PubMed:16046588 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010422 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease N133H; In AH4; non-classic. MIM:202010 congenital adrenal hyperplasia DOID:12255 VAR_001261 Y Y ECO:0000006 PubMed:9302260 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010424 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease N133H; In AH4; non-classic. MIM:202010 Congenital adrenal hyperplasia SNOMEDCT:237751000 VAR_001261 Y Y ECO:0000006 PubMed:9302260 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010426 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease T318M; In AH4. MIM:202010 congenital adrenal hyperplasia DOID:12255 VAR_001262 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010428 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease T318M; In AH4. MIM:202010 Congenital adrenal hyperplasia SNOMEDCT:237751000 VAR_001262 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010430 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease T318R; In AH4. MIM:202010 congenital adrenal hyperplasia DOID:12255 VAR_065667 Y Y ECO:0000006 PubMed:16046588 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010432 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease T318R; In AH4. MIM:202010 Congenital adrenal hyperplasia SNOMEDCT:237751000 VAR_065667 Y Y ECO:0000006 PubMed:16046588 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010434 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease T319M; In AH4; non-classic. MIM:202010 congenital adrenal hyperplasia DOID:12255 VAR_001263 Y Y ECO:0000006 PubMed:9302260 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010436 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease T319M; In AH4; non-classic. MIM:202010 Congenital adrenal hyperplasia SNOMEDCT:237751000 VAR_001263 Y Y ECO:0000006 PubMed:9302260 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010438 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease R374Q; In AH4. MIM:202010 congenital adrenal hyperplasia DOID:12255 VAR_001264 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010440 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease R374Q; In AH4. MIM:202010 Congenital adrenal hyperplasia SNOMEDCT:237751000 VAR_001264 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010442 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease G379V; In AH4. MIM:202010 congenital adrenal hyperplasia DOID:12255 VAR_065196 Y Y ECO:0000006 PubMed:20331679 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010444 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease G379V; In AH4. MIM:202010 Congenital adrenal hyperplasia SNOMEDCT:237751000 VAR_065196 Y Y ECO:0000006 PubMed:20331679 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010446 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease R454C; In AH4. MIM:202010 congenital adrenal hyperplasia DOID:12255 VAR_065197 Y Y ECO:0000006 PubMed:20947076 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010448 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease R454C; In AH4. MIM:202010 Congenital adrenal hyperplasia SNOMEDCT:237751000 VAR_065197 Y Y ECO:0000006 PubMed:20947076 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010450 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease L8P; In HHT1. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026774 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 147 3300010487 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease V49F; In HHT1. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026775 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 147 3300010489 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease G52V; In HHT1. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 VAR_005193 Y Y ECO:0000006 PubMed:9554745 PubMed:10545596 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 147 3300010491 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease C53R; In HHT1. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 VAR_005194 Y Y ECO:0000006 PubMed:9554745 PubMed:10545596 PubMed:10625079 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 147 3300010493 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease L107R; In HHT1. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026776 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 147 3300010495 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease W149C; In HHT1. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 VAR_005195 Y Y ECO:0000006 PubMed:9554745 PubMed:10545596 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 147 3300010497 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease A160D; In HHT1. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 VAR_009120 Y Y ECO:0000006 PubMed:9157574 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 147 3300010499 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease 192-198; In HHT1. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 VAR_005196 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 147 3300010501 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease 207; In HHT1. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026777 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 147 3300010503 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease L221P; In HHT1. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 VAR_009121 Y Y ECO:0000006 PubMed:10545596 PubMed:15712270 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 147 3300010505 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease 232-233; In HHT1. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026778 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 147 3300010507 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease I263T; In HHT1. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026780 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 147 3300010509 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease 263; In HHT1. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026779 Y Y ECO:0000006 PubMed:15024723 PubMed:15712270 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 147 3300010511 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease L306P; In HHT1. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 VAR_005197 Y Y ECO:0000006 PubMed:9554745 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 147 3300010513 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease C412S; In HHT1. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026781 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 147 3300010515 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease G413V; In HHT1. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 VAR_037140 Y Y ECO:0000006 PubMed:10982033 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 147 3300010517 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease V504M; In HHT1. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026782 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 147 3300010519 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease S615L; In HHT1. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026783 Y Y ECO:0000006 PubMed:15712270 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 147 3300010521 Faith P19099 1585 CYP11B2 Homo sapiens 9606 Comment/Involvement in disease N140NRL; In CMO-1 deficiency; the enzyme is inactive. MIM:203400 Hyporeninemic hypoaldosteronism SNOMEDCT:236464008 VAR_018470 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010524 Faith P19099 1585 CYP11B2 Homo sapiens 9606 Comment/Involvement in disease T185I; In CMO-2 deficiency. MIM:610600 Hyporeninemic hypoaldosteronism SNOMEDCT:236464008 VAR_018471 Y Y ECO:0000006 PubMed:9625333 PubMed:12788848 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010526 Faith P19099 1585 CYP11B2 Homo sapiens 9606 Comment/Involvement in disease E198D; In CMO-2 deficiency. MIM:610600 Hyporeninemic hypoaldosteronism SNOMEDCT:236464008 VAR_001268 Y Y ECO:0000006 PubMed:9814506 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010528 Faith P19099 1585 CYP11B2 Homo sapiens 9606 Comment/Involvement in disease L461P; In CMO-1 deficiency; abolishes the 18-hydroxylase activity required for conversion of 11-deoxycorticosterone to aldosterone. MIM:203400 Hyporeninemic hypoaldosteronism SNOMEDCT:236464008 VAR_018472 Y Y ECO:0000006 PubMed:9177280 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010530 Faith P19099 1585 CYP11B2 Homo sapiens 9606 Comment/Involvement in disease T498A; In CMO-2 deficiency. MIM:610600 Hyporeninemic hypoaldosteronism SNOMEDCT:236464008 VAR_018473 Y Y ECO:0000006 PubMed:12788848 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300010532 Faith P24530 1910 EDNRB Homo sapiens 9606 Comment/Involvement in disease A183G; In WS4A. MIM:277580 Waardenburg's syndrome DOID:9258 VAR_003470 Y Y ECO:0000006 PubMed:8634719 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010537 Faith P24530 1910 EDNRB Homo sapiens 9606 Comment/Involvement in disease W276C; In HSCR2. MIM:600155 Hirschsprung's disease DOID:10487 VAR_003471 Y Y ECO:0000006 PubMed:8001158 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010539 Faith P24530 1910 EDNRB Homo sapiens 9606 Comment/Involvement in disease F292L; In WS4A. MIM:277580 Waardenburg's syndrome DOID:9258 VAR_015294 Y Y ECO:0000006 PubMed:12189494 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010541 Faith P24530 1910 EDNRB Homo sapiens 9606 Comment/Involvement in disease R319W; In HSCR2; sporadic. MIM:600155 Hirschsprung's disease DOID:10487 VAR_003473 Y Y ECO:0000006 PubMed:8852660 PubMed:11471546 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010543 Faith P24530 1910 EDNRB Homo sapiens 9606 Comment/Involvement in disease M374I; In HSCR2. MIM:600155 Hirschsprung's disease DOID:10487 VAR_003474 Y Y ECO:0000006 PubMed:8630503 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010545 Faith P24530 1910 EDNRB Homo sapiens 9606 Comment/Involvement in disease P383L; In HSCR2; familial. MIM:600155 Hirschsprung's disease DOID:10487 VAR_003475 Y Y ECO:0000006 PubMed:8852660 PubMed:11471546 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010547 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/Involvement in disease I136L; In a breast cancer sample; somatic mutation. breast cancer DOID:1612 VAR_035758 Y Y ECO:0000006 PubMed:16959974 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 136 3300010551 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/Involvement in disease I136L; In a breast cancer sample; somatic mutation. Neoplasm of breast SNOMEDCT:126926005 VAR_035758 Y Y ECO:0000006 PubMed:16959974 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 136 3300010553 Mike P29474 4846 NOS3 Homo sapiens 9606 Comment/Involvement in disease R474C; In a colorectal cancer sample; somatic mutation. colorectal cancer DOID:9256 VAR_036303 Y Y ECO:0000006 PubMed:16959974 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 162 3300010564 Mike P29474 4846 NOS3 Homo sapiens 9606 Comment/Involvement in disease R602Q; In a colorectal cancer sample; somatic mutation. colorectal cancer DOID:9256 VAR_036304 Y Y ECO:0000006 PubMed:16959974 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 162 3300010566 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-1;Isoform 1;N-NOS-1 skeletal muscle BTO:0001103 Y Y UniProtKB full length; info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/3/2013 148 3300010572 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-1;Isoform 1;N-NOS-1 skeletal muscle tissue UBERON:0001134 Y Y UniProtKB full length; info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/3/2013 148 3300010573 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-1;Isoform 1;N-NOS-1 brain BTO:0000142 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010574 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-1;Isoform 1;N-NOS-1 brain UBERON:0000955 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010575 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-1;Isoform 1;N-NOS-1 testis BTO:0001363 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010576 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-1;Isoform 1;N-NOS-1 testis UBERON:0000473 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010577 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-1;Isoform 1;N-NOS-1 lung BTO:0000763 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010578 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-1;Isoform 1;N-NOS-1 lung UBERON:0002048 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010579 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-1;Isoform 1;N-NOS-1 kidney BTO:0000671 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010580 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-1;Isoform 1;N-NOS-1 kidney UBERON:0002113 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010581 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-1;Isoform 1;N-NOS-1 heart BTO:0000562 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010582 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-1;Isoform 1;N-NOS-1 heart UBERON:0000948 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010583 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-1;Isoform 1;N-NOS-1 adrenal gland BTO:0000047 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010584 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-1;Isoform 1;N-NOS-1 adrenal gland UBERON:0002369 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010585 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-1;Isoform 1;N-NOS-1 retina BTO:0001175 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010586 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-1;Isoform 1;N-NOS-1 retina UBERON:0000966 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010587 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-3;Isoform 3;TN-NOSB testis BTO:0001363 VSP_003571 Y Y UniProtKB info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/3/2013 148 3300010588 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-3;Isoform 3;TN-NOSB testis UBERON:0000473 VSP_003571 Y Y UniProtKB info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/3/2013 148 3300010589 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-4;Isoform 4;TEX2-insertion testis BTO:0001363 VSP_003572 VSP_003573 Y Y UniProtKB info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/3/2013 148 3300010590 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-4;Isoform 4;TEX2-insertion testis UBERON:0000473 VSP_003572 VSP_003573 Y Y UniProtKB info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/3/2013 148 3300010591 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-4;Isoform 4;TEX2-insertion skeletal muscle BTO:0001103 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010592 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-4;Isoform 4;TEX2-insertion skeletal muscle tissue UBERON:0001134 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010593 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-4;Isoform 4;TEX2-insertion lung BTO:0000763 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010594 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-4;Isoform 4;TEX2-insertion lung UBERON:0002048 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010595 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-4;Isoform 4;TEX2-insertion kidney BTO:0000671 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010596 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-4;Isoform 4;TEX2-insertion kidney UBERON:0002113 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010597 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-4;Isoform 4;TEX2-insertion brain BTO:0000142 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010598 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity P29475-4;Isoform 4;TEX2-insertion brain UBERON:0000955 Y Y PENTACON info copied from ""Tissue specifiity"" notes.#ORIGINAL data type: Comment/alternative products/isoform BP, DGA 4/21/2014 3 3300010599 Faith P30556 185 AGTR1 Homo sapiens 9606 Comment/miscellaneous T282M; In RTD. MIM:267430 VAR_035086 Y Y ECO:0000006 PubMed:16116425 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 135 3300010606 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous L71Q; In DYT5. MIM:128230 VAR_016888 Y Y ECO:0000006 PubMed:9778264 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010609 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous A74V; In DYT5. MIM:128230 VAR_016889 Y Y ECO:0000006 PubMed:9778264 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010611 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous L79P; In DYT5. MIM:128230 VAR_002634 Y Y ECO:0000006 PubMed:7501255 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010613 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous G83A; In DYT5. MIM:128230 VAR_016890 Y Y ECO:0000006 PubMed:9778264 PubMed:10825351 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010615 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous 88-89; In DYT5. MIM:128230 VAR_016891 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010617 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous R88P; In DYT5. MIM:128230 VAR_002635 Y Y ECO:0000006 PubMed:8852666 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010619 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous R88W; In DYT5. MIM:128230 VAR_002636 Y Y ECO:0000006 PubMed:7874165 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010621 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous G90V; In DYT5. MIM:128230 VAR_016892 Y Y ECO:0000006 PubMed:10076897 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010623 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous M102K; In DYT5. MIM:128230 VAR_002637 Y Y ECO:0000006 PubMed:10582612 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010625 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous M102R; In DYT5. MIM:128230 VAR_016893 Y Y ECO:0000006 PubMed:10582612 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010627 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous T106I; In DYT5. MIM:128230 VAR_054112 Y Y ECO:0000006 PubMed:17101830 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010629 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/Involvement in disease G108D; In GCH1D; phenotype presenting with dystonia and motor delay. MIM:233910 GTP cyclohydrolase I deficiency SNOMEDCT:23447005 VAR_016894 Y Y ECO:0000006 PubMed:9667588 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010631 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous D115N; In DYT5. MIM:128230 VAR_016895 Y Y ECO:0000006 PubMed:9328244 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010633 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous D134V; In DYT5. MIM:128230 VAR_002638 Y Y ECO:0000006 PubMed:7874165 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010635 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous I135K; In DYT5. MIM:128230 VAR_016896 Y Y ECO:0000006 PubMed:10208576 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010637 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous C141R; In DYT5. MIM:128230 VAR_016897 Y Y ECO:0000006 PubMed:10582612 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010639 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous C141W; In DYT5. MIM:128230 VAR_002639 Y Y ECO:0000006 PubMed:10582612 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010641 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous H144P; In DYT5. MIM:128230 VAR_002640 Y Y ECO:0000006 PubMed:8957022 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010643 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous H153P; In DYT5. MIM:128230 VAR_002641 Y Y ECO:0000006 PubMed:8852666 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010645 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous L163R; In DYT5. MIM:128230 VAR_016898 Y Y ECO:0000006 PubMed:11113234 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010647 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous S176T; In DYT5. MIM:128230 VAR_016899 Y Y ECO:0000006 PubMed:10582612 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010649 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous R178S; In DYT5. MIM:128230 VAR_002642 Y Y ECO:0000006 PubMed:9120469 PubMed:10582612 PubMed:10825351 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010651 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous Q180R; In DYT5. MIM:128230 VAR_016900 Y Y ECO:0000006 PubMed:10825351 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010653 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/Involvement in disease R184H; In GCH1D; severe hyperphenylalaninemia. MIM:233910 GTP cyclohydrolase I deficiency SNOMEDCT:23447005 VAR_002643 Y Y ECO:0000006 PubMed:7501255 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010655 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous T186K; In DYT5. MIM:128230 VAR_002644 Y Y ECO:0000006 PubMed:10582612 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010657 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous V191I; In DYT5. MIM:128230 VAR_016901 Y Y ECO:0000006 PubMed:9778264 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010659 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous P199L; In DYT5. MIM:128230 VAR_016902 Y Y ECO:0000006 PubMed:10825351 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010661 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous G201E; In DYT5. MIM:128230 VAR_002645 Y Y ECO:0000006 PubMed:7874165 PubMed:10825351 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010663 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous G203R; In DYT5. MIM:128230 VAR_002646 Y Y ECO:0000006 PubMed:8852666 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010665 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/Involvement in disease M211I; In GCH1D; severe hyperphenylalaninemia. MIM:233910 GTP cyclohydrolase I deficiency SNOMEDCT:23447005 VAR_002647 Y Y ECO:0000006 PubMed:7501255 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010667 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous M211V; In DYT5. MIM:128230 VAR_016903 Y Y ECO:0000006 PubMed:9778264 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010669 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous M213V; In DYT5. MIM:128230 VAR_016904 Y Y ECO:0000006 PubMed:11113234 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010671 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/Involvement in disease M221T; In GCH1D; a patient presenting with dystonia and motor delay; compound heterozygote for an additional deletion. MIM:233910 GTP cyclohydrolase I deficiency SNOMEDCT:23447005 VAR_016905 Y Y ECO:0000006 PubMed:9667588 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010673 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous F234S; In DYT5. MIM:128230 VAR_002649 Y Y ECO:0000006 PubMed:8852666 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010675 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous R241W; In DYT5. MIM:128230 VAR_016906 Y Y ECO:0000006 PubMed:9778264 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010677 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/miscellaneous R249S; In DYT5. MIM:128230 VAR_016907 Y Y ECO:0000006 PubMed:10987649 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 145 3300010679 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease A43V; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066171 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010686 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease G58D; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066172 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010688 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease S65F; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066173 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010690 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease V71G; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066174 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010692 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease G79E; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_063560 Y Y ECO:0000006 PubMed:17310273 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010694 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease P87S; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066175 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010696 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease Y89D; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066176 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010698 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease S123F; In CPS1D; modestly decreases enzyme activity. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_064062 Y Y ECO:0000006 PubMed:20578160 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010700 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease D165G; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066177 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010702 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease Y212N; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_063561 Y Y ECO:0000006 PubMed:17310273 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010704 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease D224V; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066178 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010706 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R233C; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066179 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010708 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease H243P; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066180 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010710 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease G258E; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066181 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010712 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease G263E; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066182 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010714 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease K280N; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_063562 Y Y ECO:0000006 PubMed:17310273 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010716 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease G301E; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066104 Y Y ECO:0000006 PubMed:16737834 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010718 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease A304V; In CPS1D; associated with T-986. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066183 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010720 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease G317E; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066184 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010722 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease D358H; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066185 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010724 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease P382L; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066186 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010726 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease Y389C; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066105 Y Y ECO:0000006 PubMed:16737834 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010728 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease L390R; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066106 Y Y ECO:0000006 PubMed:16737834 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010730 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease G401R; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066187 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010732 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease G431R; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066188 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010734 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease G432V; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066189 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010736 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease A438P; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_063563 Y Y ECO:0000006 PubMed:17310273 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010738 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease A438T; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066190 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010740 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease K450E; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066191 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010742 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease V457G; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_017562 Y Y ECO:0000006 PubMed:12955727 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010744 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease T471N; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_064063 Y Y ECO:0000006 PubMed:20578160 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010746 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease A498P; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066192 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010748 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease V531E; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066193 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010750 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease V531G; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066194 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010752 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease T544M; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_006835 Y Y ECO:0000006 PubMed:9711878 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010754 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R587C; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066195 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010756 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R587H; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_063564 Y Y ECO:0000006 PubMed:17310273 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010758 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R587L; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066196 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010760 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease A589T; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066142 Y Y ECO:0000006 PubMed:16737834 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010762 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease G593R; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_063565 Y Y ECO:0000006 PubMed:17310273 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010764 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease S597L; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066197 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010766 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease V622M; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066198 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010768 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease G628D; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066199 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010770 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease I632R; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066200 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010772 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R638P; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066201 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010774 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease A640S; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066143 Y Y ECO:0000006 PubMed:16737834 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010776 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease C648Y; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066202 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010778 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease E651K; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_063566 Y Y ECO:0000006 PubMed:17310273 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010780 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease D654V; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066203 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010782 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease N674I; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_063567 Y Y ECO:0000006 PubMed:17310273 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010784 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease N674K; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066204 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010786 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease Q678P; In CPS1D; results in a poor enzyme expression and solubility; hampers correct enzyme folding. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_064064 Y Y ECO:0000006 PubMed:20578160 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010788 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease N698S; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066205 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010790 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease N716K; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066144 Y Y ECO:0000006 PubMed:16737834 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010792 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R718K; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066107 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010794 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R721Q; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066108 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010796 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease A724P; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066109 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010798 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease A726T; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066110 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010800 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease D767V; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066111 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010802 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease P774L; In CPS1D; the enzyme is inactive. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_064065 Y Y ECO:0000006 PubMed:20578160 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010804 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R780H; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_063568 Y Y ECO:0000006 PubMed:17310273 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010806 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease M792I; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066112 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010808 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R803C; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066145 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010810 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R803G; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066146 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010812 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R803S; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066147 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010814 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease F805L; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066148 Y Y ECO:0000006 PubMed:16737834 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010816 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease F805S; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066149 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010818 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease Q810R; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_017563 Y Y ECO:0000006 PubMed:12955727 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010820 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R814W; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066150 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010822 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease C816R; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066151 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010824 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease L843S; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_017564 Y Y ECO:0000006 PubMed:12655559 PubMed:15164414 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010826 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R850C; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_063569 Y Y ECO:0000006 PubMed:17310273 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010828 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R850H; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_030675 Y Y ECO:0000006 PubMed:15617192 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010830 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease K875E; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_017565 Y Y ECO:0000006 PubMed:12655559 PubMed:15164414 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010832 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease G911E; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066152 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010834 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease G911V; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066153 Y Y ECO:0000006 PubMed:16737834 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010836 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease S913L; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066154 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010838 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease D914G; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066155 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010840 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease D914H; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066156 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010842 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease S918P; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_030676 Y Y ECO:0000006 PubMed:15617192 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010844 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R932T; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066157 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010846 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease A949T; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066158 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010848 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease L958P; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066159 Y Y ECO:0000006 PubMed:16737834 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010850 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease Y959C; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066160 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010852 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease Y962C; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066161 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010854 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease V978E; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066113 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010856 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease G982D; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_063570 Y Y ECO:0000006 PubMed:17310273 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010858 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease G982S; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066162 Y Y ECO:0000006 PubMed:16737834 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010860 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease G982V; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066114 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010862 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease Y984H; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066115 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010864 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease I986T; In CPS1D; associated with V-304. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066116 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010866 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease G987C; In CPS1D; may affect splicing. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066117 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010868 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease F992S; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066118 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010870 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease S998F; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066163 Y Y ECO:0000006 PubMed:16737834 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010872 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease N1016S; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066119 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010874 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease P1017L; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066120 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010876 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease T1022I; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066121 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010878 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease E1034G; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066122 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010880 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease H1045R; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066123 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010882 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease I1054R; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066164 Y Y ECO:0000006 PubMed:11388595 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010884 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease Q1059R; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066124 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010886 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease A1065E; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066125 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010888 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R1089C; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066126 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010890 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R1089L; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066165 Y Y ECO:0000006 PubMed:16737834 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010892 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease Q1103R; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_063571 Y Y ECO:0000006 PubMed:17310273 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010894 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease V1141G; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_063572 Y Y ECO:0000006 PubMed:17310273 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010896 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease A1155E; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066127 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010898 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease A1155V; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066128 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010900 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease H1195P; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_063573 Y Y ECO:0000006 PubMed:17310273 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010902 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease S1203L; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066129 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010904 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease S1203P; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066166 Y Y ECO:0000006 PubMed:16737834 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010906 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease D1205N; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066167 Y Y ECO:0000006 PubMed:16737834 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010908 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease I1215V; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_063574 Y Y ECO:0000006 PubMed:17310273 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010910 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R1228Q; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066130 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010912 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease N1241K; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_063575 Y Y ECO:0000006 PubMed:17310273 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010914 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease E1255D; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066131 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010916 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R1262P; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066132 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010918 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R1262Q; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066133 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010920 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease D1274H; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066134 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010922 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease C1327R; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066135 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010924 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease S1331P; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066168 Y Y ECO:0000006 PubMed:16737834 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010926 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease G1333E; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066136 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010928 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R1371L; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066137 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010930 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease A1378T; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066169 Y Y ECO:0000006 PubMed:16737834 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010933 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease T1391M; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066138 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010935 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease L1398V; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066139 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010937 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease P1411L; In CPS1D; modestly decreases enzyme activity. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_064066 Y Y ECO:0000006 PubMed:16737834 PubMed:20578160 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010939 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease P1439L; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066140 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010941 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease T1443A; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066170 Y Y ECO:0000006 PubMed:16737834 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010943 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R1453Q; In CPS1D; the enzyme is inactive. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_064067 Y Y ECO:0000006 PubMed:20578160 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010945 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease R1453W; In CPS1D; the enzyme is inactive. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_064068 Y Y ECO:0000006 PubMed:20578160 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010947 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease P1462R; In CPS1D. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_066141 Y Y ECO:0000006 PubMed:21120950 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010949 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease Y1491H; In CPS1D; triggers a large decrease in the apparent affinity for N-acetyl-L-glutamate (NAG). MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 VAR_064069 Y Y ECO:0000006 PubMed:20578160 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 155 3300010951 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/Involvement in disease E17K; In PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592. breast cancer DOID:1612 Y Y PENTACON #ORIGINAL data type: Feature/sequence variant BP, DGA 4/21/2014 3 3300010971 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/Involvement in disease E17K; In PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592. Neoplasm of breast SNOMEDCT:126926005 Y Y PENTACON #ORIGINAL data type: Feature/sequence variant BP, DGA 4/21/2014 3 3300010973 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/Involvement in disease E17K; In PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592. colorectal cancer DOID:9256 Y Y PENTACON #ORIGINAL data type: Feature/sequence variant BP, DGA 4/21/2014 3 3300010975 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/Involvement in disease E17K; In PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592. Neoplasm of colon SNOMEDCT:126838000 Y Y PENTACON #ORIGINAL data type: Feature/sequence variant BP, DGA 4/21/2014 3 3300010977 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/Involvement in disease E17K; In PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592. ovarian cancer DOID:2394 Y Y PENTACON #ORIGINAL data type: Feature/sequence variant BP, DGA 4/21/2014 3 3300010979 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/Involvement in disease E17K; In PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592. Neoplasm of ovary SNOMEDCT:123843001 Y Y PENTACON #ORIGINAL data type: Feature/sequence variant BP, DGA 4/21/2014 3 3300010981 Faith P35270 6697 SPR Homo sapiens 9606 Comment/Involvement in disease R150G; In DRDSPRD. MIM:612716 Sepiapterin reductase deficiency SNOMEDCT:45116002 VAR_058007 Y Y ECO:0000006 PubMed:11443547 PubMed:17159114 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300010984 Faith P35270 6697 SPR Homo sapiens 9606 Comment/Involvement in disease P163L; In DRDSPRD. MIM:612716 Sepiapterin reductase deficiency SNOMEDCT:45116002 VAR_058008 Y Y ECO:0000006 PubMed:16650784 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300010986 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease GA48-49EP; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026784 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300010989 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease G48R; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026785 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300010991 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease W50C; In HHT2; retained in the endoplasmic reticulum. endoplasmic reticulum GO:0005783 MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_006204 Y Y ECO:0000006 PubMed:9245985 PubMed:10767348 PubMed:14684682 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300010993 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease C51Y; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_006205 Y Y ECO:0000006 PubMed:10694922 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300010995 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease R67Q; In HHT2; retained in the endoplasmic reticulum. endoplasmic reticulum GO:0005783 MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_006206 Y Y ECO:0000006 PubMed:9245985 PubMed:14684682 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300010997 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease R67W; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026786 Y Y ECO:0000006 PubMed:15712270 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300010999 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease C77W; In HHT2; retained in the endoplasmic reticulum. endoplasmic reticulum GO:0005783 MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_006207 Y Y ECO:0000006 PubMed:10694922 PubMed:14684682 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011001 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease N96D; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_006208 Y Y ECO:0000006 PubMed:10694922 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011003 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease D179A; In HHT2; mutant protein is capable of targeting the cell surface appropriately. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026787 Y Y ECO:0000006 PubMed:14684682 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011005 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease E215K; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026789 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011007 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease G223R; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026790 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011009 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease K229R; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026791 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011011 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease 232; In HHT2; mutant protein is capable of targeting the cell surface appropriately. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_006209 Y Y ECO:0000006 PubMed:8640225 PubMed:10767348 PubMed:14684682 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011013 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease 233; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026792 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011015 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease 254; In HHT2; retained in the endoplasmic reticulum. endoplasmic reticulum GO:0005783 MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026793 Y Y ECO:0000006 PubMed:11484689 PubMed:14684682 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011017 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease L285F; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026794 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011019 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease A306P; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026795 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011021 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease H314Y; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026796 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011023 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease S333I; In HHT2; retained in the endoplasmic reticulum. endoplasmic reticulum GO:0005783 MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_006210 Y Y ECO:0000006 PubMed:9245985 PubMed:10767348 PubMed:14684682 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011025 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease L337P; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026797 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011027 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease A347P; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026799 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011029 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease R374Q; In HHT2; retained in the endoplasmic reticulum. endoplasmic reticulum GO:0005783 MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026800 Y Y ECO:0000006 PubMed:14684682 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011031 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease M376V; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026801 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011033 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease P378L; In HHT2; retained in the endoplasmic reticulum. endoplasmic reticulum GO:0005783 MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026802 Y Y ECO:0000006 PubMed:14684682 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011035 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease E379K; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026803 Y Y ECO:0000006 PubMed:15024723 PubMed:15712270 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011037 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease D397G; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026804 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011039 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease E407D; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026807 Y Y ECO:0000006 PubMed:10767348 PubMed:15712270 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011041 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease R411P; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026808 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011043 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease R411W; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026809 Y Y ECO:0000006 PubMed:11484689 PubMed:15024723 PubMed:15712270 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011045 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease P424T; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_006214 Y Y ECO:0000006 PubMed:9245985 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011047 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease F425L; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026810 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011049 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease F425V; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026811 Y Y ECO:0000006 PubMed:15712270 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011051 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease 425; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026812 Y Y ECO:0000006 PubMed:15712270 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011053 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease R479L; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026813 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011055 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease A482V; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026814 Y Y ECO:0000006 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011057 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease R484W; In HHT2. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026815 Y Y ECO:0000006 PubMed:11484689 PubMed:15024723 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011059 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease K487T; In HHT2; mutant protein is capable of targeting the cell surface appropriately. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 VAR_026816 Y Y ECO:0000006 PubMed:14684682 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 149 3300011061 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/Involvement in disease V318M; In diabetes. diabetes mellitus DOID:9351 VAR_010727 Y Y ECO:0000006 PubMed:10622252 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 184 3300011063 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/Involvement in disease F388L; In FPLD3. MIM:604367 familial partial lipodystrophy DOID:0050440 VAR_022700 Y Y ECO:0000006 PubMed:12453919 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 184 3300011065 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/Involvement in disease R425C; In FPLD3. MIM:604367 familial partial lipodystrophy DOID:0050440 VAR_022701 Y Y ECO:0000006 PubMed:11788685 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 184 3300011067 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/Involvement in disease P495L; In diabetes. diabetes mellitus DOID:9351 VAR_010728 Y Y ECO:0000006 PubMed:10622252 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 184 3300011069 Mike P48506 2729 GCLC Homo sapiens 9606 Comment/miscellaneous R127C; In HAGGSD. MIM:230450 VAR_021110 Y Y ECO:0000006 PubMed:12663448 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 121 3300011080 Mike P48506 2729 GCLC Homo sapiens 9606 Comment/miscellaneous P158L; In HAGGSD. MIM:230450 VAR_015403 Y Y ECO:0000006 PubMed:10733484 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 121 3300011082 Mike P48506 2729 GCLC Homo sapiens 9606 Comment/miscellaneous H370L; In HAGGSD. MIM:230450 VAR_013514 Y Y ECO:0000006 PubMed:10515893 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 121 3300011084 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/Involvement in disease G21V; In MRX88. MIM:300852 Mental retardation SNOMEDCT:91138005 VAR_065946 Y Y ECO:0000006 PubMed:12089445 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA, AAE 4/3/2013 119 3300011086 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/Involvement in disease R324Q; In MRX88. MIM:300852 Mental retardation SNOMEDCT:91138005 VAR_065947 Y Y ECO:0000006 PubMed:12089445 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA, AAE 4/3/2013 119 3300011088 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/Involvement in disease I337V; In MRX88. MIM:300852 Mental retardation SNOMEDCT:91138005 VAR_065948 Y Y ECO:0000006 PubMed:12089445 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA, AAE 4/3/2013 119 3300011090 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease G358R; In CMT2M. MIM:606482 Charcot-Marie-Tooth disease intermediate type DOID:0050543 VAR_068425 Y Y ECO:0000006 PubMed:18560793 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011092 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease E368K; In CNM1. centronuclear myopathy DOID:14717 VAR_031962 Y Y ECO:0000006 PubMed:16227997 PubMed:20227276 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011094 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease E368K; In CNM1. Centronuclear myopathy SNOMEDCT:193223007 VAR_031962 Y Y ECO:0000006 PubMed:16227997 PubMed:20227276 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011096 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease E368Q; In CNM1. centronuclear myopathy DOID:14717 VAR_068365 Y Y ECO:0000006 PubMed:17825552 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011098 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease E368Q; In CNM1. Centronuclear myopathy SNOMEDCT:193223007 VAR_068365 Y Y ECO:0000006 PubMed:17825552 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011100 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease R369Q; In CNM1. centronuclear myopathy DOID:14717 VAR_031963 Y Y ECO:0000006 PubMed:16227997 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011102 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease R369Q; In CNM1. Centronuclear myopathy SNOMEDCT:193223007 VAR_031963 Y Y ECO:0000006 PubMed:16227997 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011104 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease R369W; In CNM1; reduced association with the centrosome. centronuclear myopathy DOID:14717 VAR_031964 Y Y ECO:0000006 PubMed:16227997 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011106 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease R369W; In CNM1; reduced association with the centrosome. Centronuclear myopathy SNOMEDCT:193223007 VAR_031964 Y Y ECO:0000006 PubMed:16227997 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011108 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease R465W; In CNM1; reduced association with the centrosome; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. centronuclear myopathy DOID:14717 VAR_031965 Y Y ECO:0000006 PubMed:16227997 PubMed:19623537 PubMed:20227276 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011110 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease R465W; In CNM1; reduced association with the centrosome; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. Centronuclear myopathy SNOMEDCT:193223007 VAR_031965 Y Y ECO:0000006 PubMed:16227997 PubMed:19623537 PubMed:20227276 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011112 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease R522C; In CNM1. centronuclear myopathy DOID:14717 VAR_068366 Y Y ECO:0000006 PubMed:22396310 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011114 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease R522C; In CNM1. Centronuclear myopathy SNOMEDCT:193223007 VAR_068366 Y Y ECO:0000006 PubMed:22396310 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011116 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease R522H; In CNM1. centronuclear myopathy DOID:14717 VAR_068367 Y Y ECO:0000006 PubMed:20227276 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011118 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease R522H; In CNM1. Centronuclear myopathy SNOMEDCT:193223007 VAR_068367 Y Y ECO:0000006 PubMed:20227276 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011120 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease R523G; In CNM1. centronuclear myopathy DOID:14717 VAR_068368 Y Y ECO:0000006 PubMed:22396310 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011122 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease R523G; In CNM1. Centronuclear myopathy SNOMEDCT:193223007 VAR_068368 Y Y ECO:0000006 PubMed:22396310 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011124 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease G537C; In CMT2M. MIM:606482 Charcot-Marie-Tooth disease intermediate type DOID:0050543 VAR_062574 Y Y ECO:0000006 PubMed:17636067 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011126 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease 555-557; In CMTDIB; may affect binding to vesicles and membranes in favor of binding to microtubules; may affect receptor-mediated endocytosis. MIM:606482 Charcot-Marie-Tooth disease intermediate type DOID:0050543 VAR_031966 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011128 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease E560K; In CNM1. centronuclear myopathy DOID:14717 VAR_068369 Y Y ECO:0000006 PubMed:19122038 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011130 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease E560K; In CNM1. Centronuclear myopathy SNOMEDCT:193223007 VAR_068369 Y Y ECO:0000006 PubMed:19122038 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011132 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease K562E; In CMTDIB; with neutropenia; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. MIM:606482 Charcot-Marie-Tooth disease intermediate type DOID:0050543 VAR_031967 Y Y ECO:0000006 PubMed:19623537 PubMed:15731758 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011134 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease L570H; In CMT2M. MIM:606482 Charcot-Marie-Tooth disease intermediate type DOID:0050543 VAR_062575 Y Y ECO:0000006 PubMed:17636067 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011136 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease A618D; In CNM1. centronuclear myopathy DOID:14717 VAR_068370 Y Y ECO:0000006 PubMed:19932619 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011138 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease A618D; In CNM1. Centronuclear myopathy SNOMEDCT:193223007 VAR_068370 Y Y ECO:0000006 PubMed:19932619 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011140 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease A618T; In CNM1; severe. centronuclear myopathy DOID:14717 VAR_039041 Y Y ECO:0000006 PubMed:17932957 PubMed:20227276 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011142 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease A618T; In CNM1; severe. Centronuclear myopathy SNOMEDCT:193223007 VAR_039041 Y Y ECO:0000006 PubMed:17932957 PubMed:20227276 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011144 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease S619L; In CNM1; severe. centronuclear myopathy DOID:14717 VAR_039042 Y Y ECO:0000006 PubMed:17932957 PubMed:20227276 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011146 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease S619L; In CNM1; severe. Centronuclear myopathy SNOMEDCT:193223007 VAR_039042 Y Y ECO:0000006 PubMed:17932957 PubMed:20227276 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011148 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease S619W; In CNM1; severe. centronuclear myopathy DOID:14717 VAR_039043 Y Y ECO:0000006 PubMed:17932957 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011150 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease S619W; In CNM1; severe. Centronuclear myopathy SNOMEDCT:193223007 VAR_039043 Y Y ECO:0000006 PubMed:17932957 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011152 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease L621P; In CNM1; centronuclear myopathy with cataracts. centronuclear myopathy DOID:14717 VAR_068371 Y Y ECO:0000006 PubMed:19932620 UniProtKB with cataracts#ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011154 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease L621P; In CNM1; centronuclear myopathy with cataracts. Centronuclear myopathy SNOMEDCT:193223007 VAR_068371 Y Y ECO:0000006 PubMed:19932620 UniProtKB with cataracts#ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011156 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease 625; In CNM1; severe; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. centronuclear myopathy DOID:14717 VAR_039044 Y Y ECO:0000006 PubMed:17932957 PubMed:19623537 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011158 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease 625; In CNM1; severe; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. Centronuclear myopathy SNOMEDCT:193223007 VAR_039044 Y Y ECO:0000006 PubMed:17932957 PubMed:19623537 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011160 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease P627H; In CNM1. centronuclear myopathy DOID:14717 VAR_068372 Y Y ECO:0000006 PubMed:20227276 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011162 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease P627H; In CNM1. Centronuclear myopathy SNOMEDCT:193223007 VAR_068372 Y Y ECO:0000006 PubMed:20227276 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011164 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease P627R; In CNM1. centronuclear myopathy DOID:14717 VAR_068373 Y Y ECO:0000006 PubMed:22396310 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011166 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease P627R; In CNM1. Centronuclear myopathy SNOMEDCT:193223007 VAR_068373 Y Y ECO:0000006 PubMed:22396310 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011168 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease E650K; In CNM1; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. centronuclear myopathy DOID:14717 VAR_062576 Y Y ECO:0000006 PubMed:19623537 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011170 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease E650K; In CNM1; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. Centronuclear myopathy SNOMEDCT:193223007 VAR_062576 Y Y ECO:0000006 PubMed:19623537 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 137 3300011172 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/Involvement in disease P132L; In breast cancer; seems to form misfolded oligomers that are retained within the Golgi complex and are not targeted to caveolae or the plasma membrane. breast cancer DOID:1612 VAR_015103 Y Y ECO:0000006 PubMed:12368209 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 151 3300011178 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/Involvement in disease P132L; In breast cancer; seems to form misfolded oligomers that are retained within the Golgi complex and are not targeted to caveolae or the plasma membrane. Neoplasm of breast SNOMEDCT:126926005 VAR_015103 Y Y ECO:0000006 PubMed:12368209 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 151 3300011180 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease R25G; In HPABH4A; severe form. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_006817 Y Y ECO:0000006 PubMed:9450907 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011185 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease R25Q; In HPABH4A; abolishes activity; no effect on phosphorylation by PKG. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_006818 Y Y ECO:0000006 PubMed:10531334 PubMed:8178819 PubMed:7493990 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011187 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease L26F; In HPABH4A. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_058265 Y Y ECO:0000006 PubMed:11388593 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011189 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease E35G; In HPABH4A. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_006819 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011191 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease N36K; In HPABH4A. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_006820 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011193 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease N47D; In HPABH4A; transient phenotype; due to partial PTS deficiency; total loss of activity. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_008040 Y Y ECO:0000006 PubMed:10220141 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011195 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease N52S; In HPABH4A; severe form; common in Chinese population. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_006821 Y Y ECO:0000006 PubMed:8707300 PubMed:9450907 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011197 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease V56M; In HPABH4A; mild form. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_006822 Y Y ECO:0000006 PubMed:9450907 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011199 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease 57; In HPABH4A. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_006823 Y Y ECO:0000006 PubMed:7493990 PubMed:9222757 PubMed:10585341 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011201 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease T67M; In HPABH4A. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_006824 Y Y ECO:0000006 PubMed:9222757 PubMed:11388593 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011203 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease V70D; In HPABH4A. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_006825 Y Y ECO:0000006 PubMed:9450907 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011205 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease P87L; In HPABH4A. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_006826 Y Y ECO:0000006 PubMed:7493990 PubMed:11388593 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011207 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease P87S; In HPABH4A; severe form; common in Chinese population. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_006827 Y Y ECO:0000006 PubMed:8707300 PubMed:9450907 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011209 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease D96N; In HPABH4A; severe form. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_006828 Y Y ECO:0000006 PubMed:9450907 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011211 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease V97M; In HPABH4A. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_058266 Y Y ECO:0000006 PubMed:10585341 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011213 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease Y99C; In HPABH4A. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_058267 Y Y ECO:0000006 PubMed:10874306 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011215 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease F100V; In HPABH4A. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_006829 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011217 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease T106M; In HPABH4A. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_006830 Y Y ECO:0000006 PubMed:9450907 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011219 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease I114V; In HPABH4A. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_006831 Y Y ECO:0000006 PubMed:7698774 PubMed:9159737 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011221 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease D116G; In HPABH4A; due to partial PTS deficiency; mild form. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_008041 Y Y ECO:0000006 PubMed:10220141 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011223 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease V124L; In HPABH4A. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_058268 Y Y ECO:0000006 PubMed:11388593 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011225 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease K129E; In HPABH4A. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_006832 Y Y ECO:0000006 PubMed:9222757 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011227 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease D136G; In HPABH4A. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_058269 Y Y ECO:0000006 PubMed:11388593 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011229 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease D136V; In HPABH4A. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 VAR_006833 Y Y ECO:0000006 PubMed:9222757 PubMed:11388593 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 138 3300011231 Mike Q07075 2028 ENPEP Homo sapiens 9606 Comment/Involvement in disease R887T; In a breast cancer sample; somatic mutation. MIM:114480 breast cancer DOID:1612 VAR_036047 Y Y ECO:0000006 PubMed:16959974 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 135 3300011233 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease C60Y; In PPH1. MIM:178600 primary pulmonary hypertension DOID:14557 VAR_013670 Y Y ECO:0000006 PubMed:11015450 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011238 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease C60Y; In PPH1. MIM:178600 Primary pulmonary hypertension SNOMEDCT:26174007 VAR_013670 Y Y ECO:0000006 PubMed:11015450 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011240 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease Q82H; In PPH1. MIM:178600 primary pulmonary hypertension DOID:14557 VAR_033109 Y Y ECO:0000006 PubMed:12358323 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011242 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease Q82H; In PPH1. MIM:178600 Primary pulmonary hypertension SNOMEDCT:26174007 VAR_033109 Y Y ECO:0000006 PubMed:12358323 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011244 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease C117Y; In PPH1. MIM:178600 primary pulmonary hypertension DOID:14557 VAR_013671 Y Y ECO:0000006 PubMed:11015450 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011246 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease C117Y; In PPH1. MIM:178600 Primary pulmonary hypertension SNOMEDCT:26174007 VAR_013671 Y Y ECO:0000006 PubMed:11015450 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011248 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease C118W; In PPH1. MIM:178600 primary pulmonary hypertension DOID:14557 VAR_013672 Y Y ECO:0000006 PubMed:10973254 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011250 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease C118W; In PPH1. MIM:178600 Primary pulmonary hypertension SNOMEDCT:26174007 VAR_013672 Y Y ECO:0000006 PubMed:10973254 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011252 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease C123R; In PPH1. MIM:178600 primary pulmonary hypertension DOID:14557 VAR_013673 Y Y ECO:0000006 PubMed:11115378 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011254 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease C123R; In PPH1. MIM:178600 Primary pulmonary hypertension SNOMEDCT:26174007 VAR_013673 Y Y ECO:0000006 PubMed:11115378 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011256 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease C123S; In PPH1. MIM:178600 primary pulmonary hypertension DOID:14557 VAR_013674 Y Y ECO:0000006 PubMed:11115378 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011258 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease C123S; In PPH1. MIM:178600 Primary pulmonary hypertension SNOMEDCT:26174007 VAR_013674 Y Y ECO:0000006 PubMed:11115378 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011260 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease G182D; In PPH1. MIM:178600 primary pulmonary hypertension DOID:14557 VAR_033110 Y Y ECO:0000006 PubMed:12358323 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011262 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease G182D; In PPH1. MIM:178600 Primary pulmonary hypertension SNOMEDCT:26174007 VAR_033110 Y Y ECO:0000006 PubMed:12358323 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011264 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease C347Y; In PPH1. MIM:178600 primary pulmonary hypertension DOID:14557 VAR_013676 Y Y ECO:0000006 PubMed:10973254 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011267 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease C347Y; In PPH1. MIM:178600 Primary pulmonary hypertension SNOMEDCT:26174007 VAR_013676 Y Y ECO:0000006 PubMed:10973254 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011269 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease C420R; In PPH1. MIM:178600 primary pulmonary hypertension DOID:14557 VAR_013677 Y Y ECO:0000006 PubMed:11115378 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011271 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease C420R; In PPH1. MIM:178600 Primary pulmonary hypertension SNOMEDCT:26174007 VAR_013677 Y Y ECO:0000006 PubMed:11115378 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011273 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease C483R; In PPH1; sporadic. MIM:178600 primary pulmonary hypertension DOID:14557 VAR_013678 Y Y ECO:0000006 PubMed:11015450 PubMed:12358323 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011275 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease C483R; In PPH1; sporadic. MIM:178600 Primary pulmonary hypertension SNOMEDCT:26174007 VAR_013678 Y Y ECO:0000006 PubMed:11015450 PubMed:12358323 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011277 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease D485G; In PPH1; complete loss of function. MIM:178600 primary pulmonary hypertension DOID:14557 VAR_013679 Y Y ECO:0000006 PubMed:10973254 PubMed:11115378 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011279 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease D485G; In PPH1; complete loss of function. MIM:178600 Primary pulmonary hypertension SNOMEDCT:26174007 VAR_013679 Y Y ECO:0000006 PubMed:10973254 PubMed:11115378 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011281 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease R491Q; In PPH1; sporadic. MIM:178600 primary pulmonary hypertension DOID:14557 VAR_013680 Y Y ECO:0000006 PubMed:10903931 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011283 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease R491Q; In PPH1; sporadic. MIM:178600 Primary pulmonary hypertension SNOMEDCT:26174007 VAR_013680 Y Y ECO:0000006 PubMed:10903931 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011285 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease R491W; In PPH1. MIM:178600 primary pulmonary hypertension DOID:14557 VAR_013681 Y Y ECO:0000006 PubMed:10903931 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011287 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease R491W; In PPH1. MIM:178600 Primary pulmonary hypertension SNOMEDCT:26174007 VAR_013681 Y Y ECO:0000006 PubMed:10903931 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011289 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease K512T; In PPH1. MIM:178600 primary pulmonary hypertension DOID:14557 VAR_013682 Y Y ECO:0000006 PubMed:11115378 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011291 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease K512T; In PPH1. MIM:178600 Primary pulmonary hypertension SNOMEDCT:26174007 VAR_013682 Y Y ECO:0000006 PubMed:11115378 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011293 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease N519K; In PPH1. MIM:178600 primary pulmonary hypertension DOID:14557 VAR_013683 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011295 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease N519K; In PPH1. MIM:178600 Primary pulmonary hypertension SNOMEDCT:26174007 VAR_013683 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011297 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease R899P; In PPH1; leads to constitutive activation of the MAPK14 pathway. MIM:178600 primary pulmonary hypertension DOID:14557 VAR_033111 Y Y ECO:0000006 PubMed:15965979 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011299 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease R899P; In PPH1; leads to constitutive activation of the MAPK14 pathway. MIM:178600 Primary pulmonary hypertension SNOMEDCT:26174007 VAR_033111 Y Y ECO:0000006 PubMed:15965979 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 148 3300011301 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Comment/miscellaneous R112C; In ADPND; does not assemble into trimers resulting in impaired secretion from the cell. MIM:612556 VAR_013274 Y Y ECO:0000006 PubMed:12878598 PubMed:10918532 PubMed:12086969 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 136 3300011314 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Comment/Involvement in disease I164T; Associated with low plasma adiponectin concentration and diabetes mellitus type 2; does not assemble into trimers resulting in impaired secretion from the cell. type 2 diabetes mellitus DOID:9352 VAR_013276 Y Y ECO:0000006 PubMed:12878598 PubMed:11812766 PubMed:12086969 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 136 3300011318 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Comment/Involvement in disease I164T; Associated with low plasma adiponectin concentration and diabetes mellitus type 2; does not assemble into trimers resulting in impaired secretion from the cell. Diabetes mellitus type 2 SNOMEDCT:44054006 VAR_013276 Y Y ECO:0000006 PubMed:12878598 PubMed:11812766 PubMed:12086969 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 136 3300011320 Faith Q16568 9607 CARTPT Homo sapiens 9606 Comment/Involvement in disease L61F; Cosegregates with obesity phenotype in a large family. obesity DOID:9970 VAR_012199 Y Y ECO:0000006 PubMed:11522684 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 113 3300011324 Faith Q16568 9607 CARTPT Homo sapiens 9606 Comment/Involvement in disease L61F; Cosegregates with obesity phenotype in a large family. Obesity SNOMEDCT:414916001 VAR_012199 Y Y ECO:0000006 PubMed:11522684 UniProtKB #ORIGINAL data type: Feature/sequence variant BP 4/3/2013 113 3300011326 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease QAK24-26KAE; Slightly inhibits interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011334 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease QAK24-26KAE; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011336 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease K31D; Abolishes interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011338 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease K31D; Abolishes interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011340 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease E37A; No effect on interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011342 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease E37A; No effect on interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011344 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease D38A; No effect on interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011346 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease D38A; No effect on interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011348 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease Y41A; Strongly inhibits interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011350 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease Y41A; Strongly inhibits interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011352 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease K68D; Slightly inhibits interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011354 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease K68D; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011356 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease MYP82-84NFS; Inhibits interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011358 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease MYP82-84NFS; Inhibits interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011360 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease E110P; No effect on interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011362 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease E110P; No effect on interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011364 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease PD135-136SM; No effect on interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011366 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease PD135-136SM; No effect on interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011368 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease E160R; No effect on interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011370 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease E160R; No effect on interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011372 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease R192D; No effect on interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011374 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease R192D; No effect on interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011376 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease R219D; No effect on interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011378 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease R219D; No effect on interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011380 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease H239Q; No effect on interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011382 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease H239Q; No effect on interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011384 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease K309D; No effect on interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011386 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease K309D; No effect on interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011388 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease E312A; No effect on interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011390 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease E312A; No effect on interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011392 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease T324A; No effect on interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011394 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease T324A; No effect on interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011396 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease NVQ338-340DDR; No effect on interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011398 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease NVQ338-340DDR; No effect on interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011400 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease D350A; No effect on interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011402 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease D350A; No effect on interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011404 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease K353{HAD}; Abolishes interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011406 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease K353{HAD}; Abolishes interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011408 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease D355A; Strongly inhibits interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011410 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease D355A; Strongly inhibits interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011412 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease R357A; Strongly inhibits interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011414 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease R357A; Strongly inhibits interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011416 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease L359{KA}; No effect on interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011418 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease L359{KA}; No effect on interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011420 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease M383A; Slightly inhibits interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011422 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease M383A; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011424 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease P389A; Slightly inhibits interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011426 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease P389A; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011428 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease R393A; Slightly inhibits interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011430 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease R393A; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011432 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease SPD425-427PSN; Slightly inhibits interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011434 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease SPD425-427PSN; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011436 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease KGE465-467QDK; No effect on interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011438 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease KGE465-467QDK; No effect on interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011440 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease R559S; Slightly inhibits interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011442 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease R559S; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011444 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease F603T; No effect on interaction with SARS-CoV spike glycoprotein. severe acute respiratory syndrome DOID:2945 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011446 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/Involvement in disease F603T; No effect on interaction with SARS-CoV spike glycoprotein. Severe acute respiratory syndrome SNOMEDCT:398447004 Y Y UniProtKB #ORIGINAL data type: Feature/mutagenesis site BP, DGA 4/3/2013 114 3300011448 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/Involvement in disease K317E; In PEE5. MIM:614595 pre-eclampsia DOID:10591 VAR_067795 Y Y ECO:0000006 PubMed:22437503 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 123 3300011466 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/Involvement in disease K317E; In PEE5. MIM:614595 Eclampsia in pregnancy SNOMEDCT:198992004 VAR_067795 Y Y ECO:0000006 PubMed:22437503 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 123 3300011468 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/Involvement in disease S472G; In PEE5. MIM:614595 pre-eclampsia DOID:10591 VAR_067797 Y Y ECO:0000006 PubMed:22437503 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 123 3300011470 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/Involvement in disease S472G; In PEE5. MIM:614595 Eclampsia in pregnancy SNOMEDCT:198992004 VAR_067797 Y Y ECO:0000006 PubMed:22437503 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA 4/3/2013 123 3300011472 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. alimentary canal BTO:0000058 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011474 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. gastrointestinal system UBERON:0005409 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011475 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. heart BTO:0000562 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011476 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. heart UBERON:0000948 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011477 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. kidney BTO:0000671 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011478 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011479 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. lung BTO:0000763 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011480 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. lung UBERON:0002048 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011481 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011482 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. prostate gland UBERON:0002367 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011483 Katie P12821 1636 ACE Homo sapiens 9606 EC 3.4.15.1 Y Y EC number UniProtKB BP, DGA, AAE 4/3/2013 172 3300011484 Faith P12821 1636 ACE Homo sapiens 9606 Comment/Involvement in disease Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. MIM:601367 cerebrovascular accident DOID:3455 Y Y ECO:0000006 PubMed:15534175 UniProtKB Disease susceptibility is associated with variations affecting the gene represented in this entry. BP, DGA, AAE 5/29/2013 174 3300011490 Faith P12821 1636 ACE Homo sapiens 9606 Comment/Involvement in disease Renal tubular dysgenesis (RTD) [MIM:267430]: Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:267430 Y Y ECO:0000006 PubMed:16116425 UniProtKB The disease is caused by mutations affecting the gene represented in this entry. BP, DGA, AAE 5/29/2013 174 3300011491 Faith P12821 1636 ACE Homo sapiens 9606 Comment/Involvement in disease Microvascular complications of diabetes 3 (MVCD3) [MIM:612624]: Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. MIM:612624 Multiple complications due to diabetes mellitus SNOMEDCT:441628001 Y Y UniProtKB BP, DGA, AAE 5/29/2013 174 3300011492 Faith P12821 1636 ACE Homo sapiens 9606 Comment/Involvement in disease Intracerebral hemorrhage (ICH) [MIM:614519]: A pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. MIM:614519 Intracerebral hemorrhage SNOMEDCT:1508000 Y Y ECO:0000006 PubMed:15277638 UniProtKB BP, DGA, AAE 5/29/2013 174 3300011493 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/tissue specificity Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expressed in heart, kidney, testis, and gastrointestinal system. arterial endothelial cell BTO:0004758 endothelial cell of artery CL:1000413 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:15231706 PubMed:12459472 PubMed:15141377 PubMed:15671045 UniProtKB small and large arteries BP, DGA 4/3/2013 114 3300011496 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/tissue specificity Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expressed in heart, kidney, testis, and gastrointestinal system. enterocyte BTO:0000398 enterocyte of epithelium of small intestine CL:1000334 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:15231706 PubMed:12459472 PubMed:15141377 PubMed:15671045 UniProtKB BP, DGA 4/3/2013 114 3300011497 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/tissue specificity Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expressed in heart, kidney, testis, and gastrointestinal system. Leydig cell BTO:0000755 Leydig cell CL:0000178 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:15231706 PubMed:12459472 PubMed:15141377 PubMed:15671045 UniProtKB BP, DGA 4/3/2013 114 3300011498 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/tissue specificity Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expressed in heart, kidney, testis, and gastrointestinal system. lung epithelial cell BTO:0004299 pneumocyte CL:0000322 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:15231706 PubMed:12459472 PubMed:15141377 PubMed:15671045 UniProtKB BP, DGA 4/3/2013 114 3300011499 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/tissue specificity Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expressed in heart, kidney, testis, and gastrointestinal system. Sertoli cell BTO:0001238 Sertoli cell CL:0000216 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:15231706 PubMed:12459472 PubMed:15141377 PubMed:15671045 UniProtKB BP, DGA 4/3/2013 114 3300011500 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/tissue specificity Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expressed in heart, kidney, testis, and gastrointestinal system. vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:15231706 PubMed:12459472 PubMed:15141377 PubMed:15671045 UniProtKB arterial smooth muscle in BRENDA hasRelatedSynonym = arterial smooth muscle cell BP, DGA 4/3/2013 114 3300011501 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/tissue specificity Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expressed in heart, kidney, testis, and gastrointestinal system. alimentary canal BTO:0000058 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:15231706 PubMed:12459472 PubMed:15141377 PubMed:15671045 UniProtKB BP, DGA 4/3/2013 114 3300011502 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/tissue specificity Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expressed in heart, kidney, testis, and gastrointestinal system. gastrointestinal system UBERON:0005409 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:15231706 PubMed:12459472 PubMed:15141377 PubMed:15671045 UniProtKB BP, DGA 4/3/2013 114 3300011503 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/tissue specificity Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expressed in heart, kidney, testis, and gastrointestinal system. heart BTO:0000562 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:15231706 PubMed:12459472 PubMed:15141377 PubMed:15671045 UniProtKB BP, DGA 4/3/2013 114 3300011504 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/tissue specificity Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expressed in heart, kidney, testis, and gastrointestinal system. heart UBERON:0000948 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:15231706 PubMed:12459472 PubMed:15141377 PubMed:15671045 UniProtKB BP, DGA 4/3/2013 114 3300011505 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/tissue specificity Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expressed in heart, kidney, testis, and gastrointestinal system. kidney BTO:0000671 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:15231706 PubMed:12459472 PubMed:15141377 PubMed:15671045 UniProtKB BP, DGA 4/3/2013 114 3300011506 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/tissue specificity Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expressed in heart, kidney, testis, and gastrointestinal system. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:15231706 PubMed:12459472 PubMed:15141377 PubMed:15671045 UniProtKB BP, DGA 4/3/2013 114 3300011507 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/tissue specificity Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expressed in heart, kidney, testis, and gastrointestinal system. testis BTO:0001363 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:15231706 PubMed:12459472 PubMed:15141377 PubMed:15671045 UniProtKB BP, DGA 4/3/2013 114 3300011508 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/tissue specificity Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expressed in heart, kidney, testis, and gastrointestinal system. testis UBERON:0000473 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:15231706 PubMed:12459472 PubMed:15141377 PubMed:15671045 UniProtKB BP, DGA 4/3/2013 114 3300011509 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 EC 3.4.17.23 Y Y EC number UniProtKB BP, DGA 4/3/2013 114 3300011510 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/subcellular location Cell membrane;Single-pass type I membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB BP, DGA 4/3/2013 114 3300011512 Faith P37023 94 ACVRL1 Homo sapiens 9606 EC 2.7.11.30 Y Y EC number UniProtKB BP, DGA 4/3/2013 149 3300011514 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/subcellular location Membrane;Single-pass type I membrane protein membrane GO:0016020 SL-0162 Y Y UniProtKB BP, DGA 4/3/2013 149 3300011516 Faith P37023 94 ACVRL1 Homo sapiens 9606 Comment/Involvement in disease Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]: Autosomal dominant multisystemic vascular dysplasia, characterized by recurrent epistaxis, muco-cutaneous telangiectases, gastro-intestinal hemorrhage, and pulmonary, cerebral and hepatic arteriovenous malformations; all secondary manifestations of the underlying vascular dysplasia. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:600376 hereditary hemorrhagic telangiectasia DOID:1270 ICD:448.0 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:9245985 PubMed:8640225 PubMed:10694922 PubMed:10767348 PubMed:11170071 PubMed:11484689 PubMed:14684682 PubMed:15024723 PubMed:15712270 UniProtKB BP, DGA 5/29/2013 151 3300011517 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Comment/tissue specificity Synthesized exclusively by adipocytes and secreted into plasma. adipocyte BTO:0000443 fat cell CL:0000136 Y Y UniProtKB BP, DGA 4/3/2013 136 3300011518 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Comment/tissue specificity Synthesized exclusively by adipocytes and secreted into plasma. blood plasma BTO:0000131 Y Y UniProtKB BP, DGA 4/3/2013 136 3300011519 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Comment/tissue specificity Synthesized exclusively by adipocytes and secreted into plasma. blood plasma UBERON:0001969 Y Y UniProtKB BP, DGA 4/3/2013 136 3300011520 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Comment/miscellaneous HMW-complex blood contents are higher in females than in males, are increased in males by castration and decreased again upon subsequent testosterone treatment, which blocks HMW-complex secretion (By similarity). In type 2 diabetic patients, both the ratios of HMW to total adiponectin and the degree of adiponectin glycosylation are significantly decreased as compared with healthy controls. type 2 diabetes mellitus DOID:9352 Y Y UniProtKB BP, DGA 4/3/2013 136 3300011523 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Comment/miscellaneous HMW-complex blood contents are higher in females than in males, are increased in males by castration and decreased again upon subsequent testosterone treatment, which blocks HMW-complex secretion (By similarity). In type 2 diabetic patients, both the ratios of HMW to total adiponectin and the degree of adiponectin glycosylation are significantly decreased as compared with healthy controls. Type II diabetes mellitus SNOMEDCT:190384004 Y Y UniProtKB BP, DGA 4/3/2013 136 3300011524 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB BP, DGA 4/3/2013 136 3300011525 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Comment/Involvement in disease Adiponectin deficiency (ADPND) [MIM:612556]: A condition that results in very low concentrations of plasma adiponectin. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:612556 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:10918532 UniProtKB BP, DGA 5/1/2013 137 3300011527 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Comment/Involvement in disease Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. MIM:125853 type 2 diabetes mellitus DOID:9352 Disease susceptibility is associated with variations affecting the gene represented in this entry. Y Y UniProtKB BP, DGA 5/1/2013 137 3300011528 Faith P35318 133 ADM Homo sapiens 9606 Comment/tissue specificity Highest levels found in pheochromocytoma and adrenal medulla. Also found in lung, ventricle and kidney tissues. adrenal medulla BTO:0000049 Y Y UniProtKB BP, DGA 4/3/2013 123 3300011529 Faith P35318 133 ADM Homo sapiens 9606 Comment/tissue specificity Highest levels found in pheochromocytoma and adrenal medulla. Also found in lung, ventricle and kidney tissues. adrenal medulla UBERON:0001236 Y Y UniProtKB BP, DGA 4/3/2013 123 3300011530 Faith P35318 133 ADM Homo sapiens 9606 Comment/tissue specificity Highest levels found in pheochromocytoma and adrenal medulla. Also found in lung, ventricle and kidney tissues. heart ventricle BTO:0000862 Y Y UniProtKB BP, DGA 4/3/2013 123 3300011531 Faith P35318 133 ADM Homo sapiens 9606 Comment/tissue specificity Highest levels found in pheochromocytoma and adrenal medulla. Also found in lung, ventricle and kidney tissues. cardiac ventricle UBERON:0002082 Y Y UniProtKB BP, DGA 4/3/2013 123 3300011532 Faith P35318 133 ADM Homo sapiens 9606 Comment/tissue specificity Highest levels found in pheochromocytoma and adrenal medulla. Also found in lung, ventricle and kidney tissues. kidney BTO:0000671 Y Y UniProtKB BP, DGA 4/3/2013 123 3300011533 Faith P35318 133 ADM Homo sapiens 9606 Comment/tissue specificity Highest levels found in pheochromocytoma and adrenal medulla. Also found in lung, ventricle and kidney tissues. kidney UBERON:0002113 Y Y UniProtKB BP, DGA 4/3/2013 123 3300011534 Faith P35318 133 ADM Homo sapiens 9606 Comment/tissue specificity Highest levels found in pheochromocytoma and adrenal medulla. Also found in lung, ventricle and kidney tissues. lung BTO:0000763 Y Y UniProtKB BP, DGA 4/3/2013 123 3300011535 Faith P35318 133 ADM Homo sapiens 9606 Comment/tissue specificity Highest levels found in pheochromocytoma and adrenal medulla. Also found in lung, ventricle and kidney tissues. lung UBERON:0002048 Y Y UniProtKB BP, DGA 4/3/2013 123 3300011536 Faith P35318 133 ADM Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB BP, DGA 4/3/2013 123 3300011538 Faith P35318 133 ADM Homo sapiens 9606 Comment/tissue specificity Highest levels found in pheochromocytoma and adrenal medulla. Also found in lung, ventricle and kidney tissues. Pheochromocytoma SNOMEDCT:302835009 Y Y UniProtKB BP, DGA 4/3/2013 123 3300011539 Faith P01019 183 AGT Homo sapiens 9606 Comment/tissue specificity Expressed by the liver and secreted in plasma. blood plasma BTO:0000131 Y Y UniProtKB DGA, BP 4/3/2013 162 3300011540 Faith P01019 183 AGT Homo sapiens 9606 Comment/tissue specificity Expressed by the liver and secreted in plasma. blood plasma UBERON:0001969 Y Y UniProtKB DGA, BP 4/3/2013 162 3300011541 Faith P01019 183 AGT Homo sapiens 9606 Comment/tissue specificity Expressed by the liver and secreted in plasma. liver BTO:0000759 Y Y UniProtKB DGA, BP 4/3/2013 162 3300011542 Faith P01019 183 AGT Homo sapiens 9606 Comment/tissue specificity Expressed by the liver and secreted in plasma. liver UBERON:0002107 Y Y UniProtKB DGA, BP 4/3/2013 162 3300011543 Faith P01019 183 AGT Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB DGA, BP 4/3/2013 162 3300011549 Faith P01019 183 AGT Homo sapiens 9606 Comment/Involvement in disease Essential hypertension (EHT) [MIM:145500]: A condition in which blood pressure is consistently higher than normal with no identifiable cause. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. MIM:145500 essential hypertension DOID:10825 ICD:401 401.9 Disease susceptibility is associated with variations affecting the gene represented in this entry. Y Y UniProtKB DGA, BP 5/29/2013 164 3300011550 Faith P01019 183 AGT Homo sapiens 9606 Comment/Involvement in disease Renal tubular dysgenesis (RTD) [MIM:267430]: Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:267430 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:16116425 UniProtKB DGA, BP 5/29/2013 164 3300011551 Faith P30556 185 AGTR1 Homo sapiens 9606 Comment/tissue specificity Liver, lung, adrenal and adrenocortical adenomas. liver BTO:0000759 Y Y UniProtKB BP, DGA 4/3/2013 135 3300011552 Faith P30556 185 AGTR1 Homo sapiens 9606 Comment/tissue specificity Liver, lung, adrenal and adrenocortical adenomas. liver UBERON:0002107 Y Y UniProtKB BP, DGA 4/3/2013 135 3300011553 Faith P30556 185 AGTR1 Homo sapiens 9606 Comment/tissue specificity Liver, lung, adrenal and adrenocortical adenomas. lung BTO:0000763 Y Y UniProtKB BP, DGA 4/3/2013 135 3300011554 Faith P30556 185 AGTR1 Homo sapiens 9606 Comment/tissue specificity Liver, lung, adrenal and adrenocortical adenomas. lung UBERON:0002048 Y Y UniProtKB BP, DGA 4/3/2013 135 3300011555 Faith P30556 185 AGTR1 Homo sapiens 9606 Comment/tissue specificity Liver, lung, adrenal and adrenocortical adenomas. adrenal adenoma DOID:656 Y Y UniProtKB BP, DGA 4/3/2013 135 3300011558 Faith P30556 185 AGTR1 Homo sapiens 9606 Comment/tissue specificity Liver, lung, adrenal and adrenocortical adenomas. Adrenal adenoma SNOMEDCT:255036008 Y Y UniProtKB BP, DGA 4/3/2013 135 3300011559 Katie P30556 185 AGTR1 Homo sapiens 9606 Comment/tissue specificity Liver, lung, adrenal and adrenocortical adenomas. Adrenal cortical adenoma SNOMEDCT:302826002 Y Y UniProtKB BP, DGA 4/3/2013 135 3300011560 Faith P30556 185 AGTR1 Homo sapiens 9606 Comment/Involvement in disease Renal tubular dysgenesis (RTD) [MIM:267430]: Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:267430 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:16116425 UniProtKB BP, DGA 5/29/2013 137 3300011561 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. adrenal gland BTO:0000047 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011562 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. adrenal gland UBERON:0002369 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011563 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. cerebellum BTO:0000232 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011564 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. cerebellum UBERON:0002037 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011565 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. intestine BTO:0000648 fetus BTO:0000449 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011566 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. intestine UBERON:0000160 fetus BTO:0000449 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011567 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. kidney BTO:0000671 fetus BTO:0000449 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011568 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. kidney UBERON:0002113 fetus BTO:0000449 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011569 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. myometrium BTO:0000907 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011570 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. myometrium UBERON:0001296 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011571 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. oviduct BTO:0000980 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011572 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. fallopian tube UBERON:0003889 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011573 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB BP, DGA, AAE 4/3/2013 119 3300011575 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/Involvement in disease Mental retardation, X-linked 88 (MRX88) [MIM:300852]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:300852 Mental retardation SNOMEDCT:91138005 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:12089445 UniProtKB Snomed did not have a more specific applicable term. BP, DGA, AAE 5/29/2013 121 3300011576 Faith P31749 207 AKT1 Homo sapiens 9606 EC 2.7.11.1 Y Y EC number UniProtKB BP, DGA 4/3/2013 166 3300011577 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y UniProtKB BP, DGA 4/3/2013 166 3300011581 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/subcellular location Nucleus nucleus GO:0005634 SL-0191 Y Y UniProtKB BP, DGA 4/3/2013 166 3300011582 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/subcellular location Cell membrane plasma membrane GO:0005886 SL-0039 Y Y UniProtKB BP, DGA 4/3/2013 166 3300011583 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate cancer and levels increase from the normal to the malignant state (at protein level). Expressed in all human cell types so far analyzed. The Tyr-176 phosphorylated form shows a significant increase in expression in breast cancers during the progressive stages i.e. normal to hyperplasia (ADH), ductal carcinoma in situ (DCIS), invasive ductal carcinoma (IDC) and lymph node metastatic (LNMM) stages. breast cancer DOID:1612 Y Y ECO:0000006 PubMed:1718748 PubMed:20333297 PubMed:17932490 UniProtKB BP, DGA 4/3/2013 166 3300011585 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate cancer and levels increase from the normal to the malignant state (at protein level). Expressed in all human cell types so far analyzed. The Tyr-176 phosphorylated form shows a significant increase in expression in breast cancers during the progressive stages i.e. normal to hyperplasia (ADH), ductal carcinoma in situ (DCIS), invasive ductal carcinoma (IDC) and lymph node metastatic (LNMM) stages. Neoplasm of breast SNOMEDCT:126926005 Y Y ECO:0000006 PubMed:1718748 PubMed:20333297 PubMed:17932490 UniProtKB BP, DGA 4/3/2013 166 3300011586 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate cancer and levels increase from the normal to the malignant state (at protein level). Expressed in all human cell types so far analyzed. The Tyr-176 phosphorylated form shows a significant increase in expression in breast cancers during the progressive stages i.e. normal to hyperplasia (ADH), ductal carcinoma in situ (DCIS), invasive ductal carcinoma (IDC) and lymph node metastatic (LNMM) stages. prostate cancer DOID:10283 Y Y ECO:0000006 PubMed:1718748 PubMed:20333297 PubMed:17932490 UniProtKB BP, DGA 4/3/2013 166 3300011588 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate cancer and levels increase from the normal to the malignant state (at protein level). Expressed in all human cell types so far analyzed. The Tyr-176 phosphorylated form shows a significant increase in expression in breast cancers during the progressive stages i.e. normal to hyperplasia (ADH), ductal carcinoma in situ (DCIS), invasive ductal carcinoma (IDC) and lymph node metastatic (LNMM) stages. Neoplasm of prostate SNOMEDCT:126906006 Y Y ECO:0000006 PubMed:1718748 PubMed:20333297 PubMed:17932490 UniProtKB BP, DGA 4/3/2013 166 3300011589 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/Involvement in disease Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. MIM:114480 breast cancer DOID:1612 Disease susceptibility is associated with variations affecting the gene represented in this entry. Y Y UniProtKB BP, DGA 5/29/2013 168 3300011590 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/Involvement in disease Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. MIM:114480 Neoplasm of breast SNOMEDCT:126926005 Disease susceptibility is associated with variations affecting the gene represented in this entry. Y Y UniProtKB BP, DGA 5/29/2013 168 3300011591 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/Involvement in disease Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The gene represented in this entry may be involved in disease pathogenesis. MIM:114500 colorectal cancer DOID:9256 The gene represented in this entry may be involved in disease pathogenesis. Y Y UniProtKB BP, DGA 5/29/2013 168 3300011592 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/Involvement in disease Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The gene represented in this entry may be involved in disease pathogenesis. MIM:114500 Neoplasm of colon SNOMEDCT:126838000 The gene represented in this entry may be involved in disease pathogenesis. Y Y UniProtKB BP, DGA 5/29/2013 168 3300011593 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/Involvement in disease Note=Genetic variations in AKT1 may play a role in susceptibility to ovarian cancer. ovarian cancer DOID:2394 Genetic variations in AKT1 may play a role in susceptibility to ovarian cancer. Y Y UniProtKB BP, DGA 5/29/2013 168 3300011594 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/Involvement in disease Note=Genetic variations in AKT1 may play a role in susceptibility to ovarian cancer. Neoplasm of ovary SNOMEDCT:123843001 Genetic variations in AKT1 may play a role in susceptibility to ovarian cancer. Y Y UniProtKB BP, DGA 5/29/2013 168 3300011595 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/Involvement in disease Proteus syndrome (PROTEUSS) [MIM:176920]: A highly variable, severe disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Many features of Proteus syndrome overlap with other overgrowth syndromes. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:176920 Proteus syndrome DOID:13482 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:18954143 PubMed:21793738 UniProtKB BP, DGA 5/29/2013 168 3300011596 Faith P31749 207 AKT1 Homo sapiens 9606 Comment/Involvement in disease Proteus syndrome (PROTEUSS) [MIM:176920]: A highly variable, severe disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Many features of Proteus syndrome overlap with other overgrowth syndromes. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:176920 Proteus syndrome SNOMEDCT:23150001 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:18954143 PubMed:21793738 UniProtKB BP, DGA 5/29/2013 168 3300011597 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. endothelial cell BTO:0001176 endothelial cell CL:0000115 Y Y UniProtKB BP, DGA 4/3/2013 159 3300011598 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. fibroblast BTO:0000452 fibroblast CL:0000057 Y Y UniProtKB BP, DGA 4/3/2013 159 3300011599 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. granulocyte BTO:0000539 granulocyte CL:0000094 Y Y UniProtKB BP, DGA 4/3/2013 159 3300011600 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. intestinal epithelium BTO:0000781 intestinal epithelial cell CL:0002563 Y Y UniProtKB BP, DGA 4/3/2013 159 3300011601 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. intestinal epithelium UBERON:0001277 intestinal epithelial cell CL:0002563 Y Y UniProtKB BP, DGA 4/3/2013 159 3300011602 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. renal epithelium BTO:0000059 kidney epithelial cell CL:0002518 Y Y UniProtKB BP, DGA 4/3/2013 159 3300011603 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. kidney epithelium UBERON:0004819 kidney epithelial cell CL:0002518 Y Y UniProtKB BP, DGA 4/3/2013 159 3300011604 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. monocyte BTO:0000876 monocyte CL:0000576 Y Y UniProtKB BP, DGA 4/3/2013 159 3300011605 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. pericyte BTO:0002441 pericyte cell CL:0000669 Y Y UniProtKB cerebral pericytes at the blood brain barrier BP, DGA 4/3/2013 159 3300011606 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. blood brain barrier UBERON:0000120 pericyte cell CL:0000669 Y Y UniProtKB cerebral pericytes at the blood brain barrier BP, DGA 4/3/2013 159 3300011607 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. respiratory epithelium BTO:0000419 respiratory epithelial cell CL:0002368 Y Y UniProtKB BP, DGA 4/3/2013 159 3300011608 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. respiratory tract epithelium UBERON:0004802 respiratory epithelial cell CL:0002368 Y Y UniProtKB BP, DGA 4/3/2013 159 3300011609 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. endometrial stromal cell BTO:0003697 stromal cell of endometrium CL:0002255 Y Y UniProtKB NOT endometrial glandular cell BP, DGA 4/3/2013 159 3300011610 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. blood plasma BTO:0000131 cancer DOID:162 Y Y PENTACON elevated BP, DGA 4/21/2014 3 3300011611 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. blood plasma UBERON:0001969 cancer DOID:162 Y Y PENTACON elevated BP, DGA 4/21/2014 3 3300011612 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. blood plasma BTO:0000131 Y Y UniProtKB BP, DGA 4/3/2013 159 3300011613 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. blood plasma UBERON:0001969 Y Y UniProtKB BP, DGA 4/3/2013 159 3300011614 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. blood vessel BTO:0001102 malignant glioma DOID:3070 Y Y UniProtKB Not in vasculature of normal tissues BP, DGA 4/3/2013 159 3300011615 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. blood vessel UBERON:0001981 malignant glioma DOID:3070 Y Y UniProtKB Not in vasculature of normal tissues BP, DGA 4/3/2013 159 3300011616 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. blood vessel BTO:0001102 metastasis to lymph node DOID:10437 Y Y UniProtKB Metastases from multiple tumor types; not in the vasculature of normal tissues BP, DGA 4/3/2013 159 3300011617 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. blood vessel UBERON:0001981 metastasis to lymph node DOID:10437 Y Y UniProtKB Metastases from multiple tumor types; not in the vasculature of normal tissues BP, DGA 4/3/2013 159 3300011618 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. synaptic membrane GO:0097060 central nervous system BTO:0000227 Y Y UniProtKB BP, DGA 4/3/2013 159 3300011619 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. synaptic membrane GO:0097060 central nervous system UBERON:0001017 Y Y UniProtKB BP, DGA 4/3/2013 159 3300011620 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. corpus luteum BTO:0000292 Y Y PubMed:10676659 UniProtKB The tissue that undergoes angiogenesis BP, DGA 4/3/2013 159 3300011621 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. corpus luteum UBERON:0002512 Y Y PubMed:10676659 UniProtKB The tissue that undergoes angiogenesis BP, DGA 4/3/2013 159 3300011622 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. pleural fluid BTO:0003080 Y Y UniProtKB BP, DGA 4/3/2013 159 3300011623 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. pleural effusion UBERON:0000175 Y Y UniProtKB BP, DGA 4/3/2013 159 3300011624 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. pleural fluid BTO:0003080 cancer DOID:162 Y Y UniProtKB elevated BP, DGA 4/3/2013 159 3300011625 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/tissue specificity Expressed in epithelial cells of the kidney, intestine, and respiratory tract; granulocytes, monocytes, fibroblasts, endothelial cells, cerebral pericytes at the blood-brain barrier, synaptic membranes of cells in the CNS. Also expressed in endometrial stromal cells, but not in the endometrial glandular cells. Found in the vasculature of tissues that undergo angiogenesis and in malignant gliomas and lymph node metastases from multiple tumor types but not in blood vessels of normal tissues. A soluble form has been found in plasma. It is found to be elevated in plasma and effusions of cancer patients. pleural effusion UBERON:0000175 cancer DOID:162 Y Y UniProtKB elevated BP, DGA 4/3/2013 159 3300011626 Faith P15144 290 ANPEP Homo sapiens 9606 EC 3.4.11.2 Y Y EC number UniProtKB BP, DGA 4/3/2013 159 3300011627 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/subcellular location Cell membrane;Single-pass type II membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB BP, DGA 4/3/2013 159 3300011630 Faith P15144 290 ANPEP Homo sapiens 9606 Comment/subcellular location Cytosol cytosol GO:0005829 SL-0091 Y Y UniProtKB BP, DGA 4/3/2013 159 3300011631 Faith O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. vascular smooth muscle cell BTO:0004578 kidney artery smooth muscle cell CL:1001064 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011634 Faith O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. syncytiotrophoblast BTO:0001335 syncytiotrophoblast cell CL:0000525 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011635 Rose/Faith O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. brain BTO:0000142 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011636 Rose/Faith O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. brain UBERON:0000955 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011637 Faith O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. coronary artery smooth muscle cell BTO:0005101 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011638 Rose O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. heart BTO:0000562 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011639 Rose O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. heart UBERON:0000948 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011640 Rose O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. kidney BTO:0000671 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011641 Rose O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011642 Rose O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. liver BTO:0000759 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011643 Rose O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. liver UBERON:0002107 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011644 Faith O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. lung BTO:0000763 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB barely detectable BP 4/3/2013 115 3300011645 Faith O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. lung UBERON:0002048 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB barely detectable BP 4/3/2013 115 3300011646 Faith O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. mesangium BTO:0002494 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011647 Faith O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. glomerular mesangium UBERON:0002320 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011648 Rose O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. pancreas BTO:0000988 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011649 Rose O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. pancreas UBERON:0001264 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011650 Rose O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. placenta BTO:0001078 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011651 Rose O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. placenta UBERON:0001987 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011652 Faith O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB barely detectable BP 4/3/2013 115 3300011653 Faith O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. skeletal muscle tissue UBERON:0001134 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB barely detectable BP 4/3/2013 115 3300011654 Faith O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. vasculature BTO:0003718 placenta BTO:0001078 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011655 Faith O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, heart, placenta, liver, kidney and pancreas. Barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. Expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. blood vasculature UBERON:0004537 placenta BTO:0001078 Y Y ECO:0000006 PubMed:12045255 PubMed:15746149 UniProtKB BP 4/3/2013 115 3300011656 Rose O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/Involvement in disease Mental retardation, X-linked, with epilepsy (MRXE) [MIM:300423]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXE patients manifest mild to moderate mental retardation associated with epilepsy, delays in motor milestones and speech acquisition in infancy. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:300423 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:15746149 UniProtKB No term that captures intellectual disability coupled with epilepsy BP 5/29/2013 117 3300011659 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart and liver. heart BTO:0000562 Y Y UniProtKB highly expressed BP, DGA 4/3/2013 148 3300011661 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart and liver. heart UBERON:0000948 Y Y UniProtKB highly expressed BP, DGA 4/3/2013 148 3300011662 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart and liver. liver BTO:0000759 Y Y UniProtKB highly expressed BP, DGA 4/3/2013 148 3300011663 Faith Q13873 659 BMPR2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart and liver. liver UBERON:0002107 Y Y UniProtKB highly expressed BP, DGA 4/3/2013 148 3300011664 Faith Q13873 659 BMPR2 Homo sapiens 9606 EC 2.7.11.30 Y Y EC number UniProtKB BP, DGA 4/3/2013 148 3300011665 Rose Q13873 659 BMPR2 Homo sapiens 9606 Comment/subcellular location Membrane;Single-pass type I membrane protein membrane GO:0016020 SL-0162 Y Y UniProtKB BP, DGA 4/3/2013 148 3300011667 Rose Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease Primary pulmonary hypertension (PPH1) [MIM:178600]: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial PPH1 is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:178600 primary pulmonary hypertension DOID:14557 ICD:416.0 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:10903931 PubMed:11015450 PubMed:10973254 PubMed:11115378 PubMed:12358323 PubMed:15965979 UniProtKB BP, DGA 5/29/2013 150 3300011668 Rose Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease Primary pulmonary hypertension (PPH1) [MIM:178600]: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial PPH1 is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:178600 Primary pulmonary hypertension SNOMEDCT:26174007 ICD:416.0 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:10903931 PubMed:11015450 PubMed:10973254 PubMed:11115378 PubMed:12358323 PubMed:15965979 UniProtKB BP, DGA 5/29/2013 150 3300011669 Rose Q13873 659 BMPR2 Homo sapiens 9606 Comment/Involvement in disease Pulmonary venoocclusive disease (PVOD) [MIM:265450]: Rare form of pulmonary hypertension in which the vascular changes originate in the small pulmonary veins and venules. The pathogenesis is unknown and any link with PPH1 has been speculative. The finding of PVOD associated with a BMPR2 mutation reveals a possible pathogenetic connection with PPH1. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:265450 pulmonary venoocclusive disease DOID:5453 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:12446270 PubMed:16429395 UniProtKB BP, DGA 5/29/2013 150 3300011670 Faith P06881 796 CALCA Homo sapiens 9606 Comment/function CGRP induces vasodilation. It dilates a variety of vessels including the coronary, cerebral and systemic vasculature. Its abundance in the CNS also points toward a neurotransmitter or neuromodulator role. It also elevates platelet cAMP. central nervous system BTO:0000227 Y Y ECO:0000006 PubMed:1318039 UniProtKB BP, DGA 4/3/2013 134 3300011671 Faith P06881 796 CALCA Homo sapiens 9606 Comment/function CGRP induces vasodilation. It dilates a variety of vessels including the coronary, cerebral and systemic vasculature. Its abundance in the CNS also points toward a neurotransmitter or neuromodulator role. It also elevates platelet cAMP. central nervous system UBERON:0001017 Y Y ECO:0000006 PubMed:1318039 UniProtKB BP, DGA 4/3/2013 134 3300011672 Faith P06881 796 CALCA Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB BP, DGA 4/3/2013 134 3300011673 Faith P62158 801 CALM1 Homo sapiens 9606 Comment/Involvement in disease Ventricular tachycardia, catecholaminergic polymorphic 4 (CPVT4) [MIM:614916]: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:614916 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:23040497 UniProtKB BP 5/29/2013 128 3300011674 Faith P62158 801 CALM1 Homo sapiens 9606 Comment/subcellular location Spindle spindle GO:0005819 SL-0251 Y Y UniProtKB BP 4/3/2013 126 3300011677 Faith P62158 801 CALM1 Homo sapiens 9606 Comment/subcellular location Spindle pole spindle pole GO:0000922 SL-0448 Y Y UniProtKB BP 4/3/2013 126 3300011678 Faith Q16568 9607 CARTPT Homo sapiens 9606 Comment/tissue specificity Hypothalamus. Found in neurons of the ventrolateral part of the arcuate nucleus, in the external zone of the median eminence, and also found in terminals in the periventricular part of the paraventricular nucleus. hypothalamus BTO:0000614 Y Y UniProtKB BP 4/3/2013 113 3300011681 Faith Q16568 9607 CARTPT Homo sapiens 9606 Comment/tissue specificity Hypothalamus. Found in neurons of the ventrolateral part of the arcuate nucleus, in the external zone of the median eminence, and also found in terminals in the periventricular part of the paraventricular nucleus. hypothalamus UBERON:0001898 Y Y UniProtKB BP 4/3/2013 113 3300011682 Faith Q16568 9607 CARTPT Homo sapiens 9606 Comment/tissue specificity Hypothalamus. Found in neurons of the ventrolateral part of the arcuate nucleus, in the external zone of the median eminence, and also found in terminals in the periventricular part of the paraventricular nucleus. infundibular nucleus BTO:0002473 Y Y UniProtKB BP 4/3/2013 113 3300011683 Faith Q16568 9607 CARTPT Homo sapiens 9606 Comment/tissue specificity Hypothalamus. Found in neurons of the ventrolateral part of the arcuate nucleus, in the external zone of the median eminence, and also found in terminals in the periventricular part of the paraventricular nucleus. arcuate nucleus of hypothalamus UBERON:0001932 Y Y UniProtKB BP 4/3/2013 113 3300011684 Faith Q16568 9607 CARTPT Homo sapiens 9606 Comment/tissue specificity Hypothalamus. Found in neurons of the ventrolateral part of the arcuate nucleus, in the external zone of the median eminence, and also found in terminals in the periventricular part of the paraventricular nucleus. median eminence BTO:0001954 Y Y UniProtKB external zone of median eminence BP 4/3/2013 113 3300011685 Faith Q16568 9607 CARTPT Homo sapiens 9606 Comment/tissue specificity Hypothalamus. Found in neurons of the ventrolateral part of the arcuate nucleus, in the external zone of the median eminence, and also found in terminals in the periventricular part of the paraventricular nucleus. paraventricular nucleus of hypothalamus BTO:0002476 Y Y UniProtKB BP 4/3/2013 113 3300011686 Faith Q16568 9607 CARTPT Homo sapiens 9606 Comment/tissue specificity Hypothalamus. Found in neurons of the ventrolateral part of the arcuate nucleus, in the external zone of the median eminence, and also found in terminals in the periventricular part of the paraventricular nucleus. paraventricular nucleus of hypothalamus UBERON:0001930 Y Y UniProtKB BP 4/3/2013 113 3300011687 Faith Q16568 9607 CARTPT Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB BP 4/3/2013 113 3300011689 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/tissue specificity Expressed in muscle and lung, less so in liver, brain and kidney. brain BTO:0000142 Y Y UniProtKB BP, DGA 4/3/2013 151 3300011691 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/tissue specificity Expressed in muscle and lung, less so in liver, brain and kidney. brain UBERON:0000955 Y Y UniProtKB BP, DGA 4/3/2013 151 3300011692 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/tissue specificity Expressed in muscle and lung, less so in liver, brain and kidney. kidney BTO:0000671 Y Y UniProtKB BP, DGA 4/3/2013 151 3300011693 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/tissue specificity Expressed in muscle and lung, less so in liver, brain and kidney. kidney UBERON:0002113 Y Y UniProtKB BP, DGA 4/3/2013 151 3300011694 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/tissue specificity Expressed in muscle and lung, less so in liver, brain and kidney. liver BTO:0000759 Y Y UniProtKB BP, DGA 4/3/2013 151 3300011695 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/tissue specificity Expressed in muscle and lung, less so in liver, brain and kidney. liver UBERON:0002107 Y Y UniProtKB BP, DGA 4/3/2013 151 3300011696 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/tissue specificity Expressed in muscle and lung, less so in liver, brain and kidney. lung BTO:0000763 Y Y UniProtKB BP, DGA 4/3/2013 151 3300011697 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/tissue specificity Expressed in muscle and lung, less so in liver, brain and kidney. lung UBERON:0002048 Y Y UniProtKB BP, DGA 4/3/2013 151 3300011698 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/tissue specificity Expressed in muscle and lung, less so in liver, brain and kidney. muscle BTO:0000887 Y Y UniProtKB BP, DGA 4/3/2013 151 3300011699 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/tissue specificity Expressed in muscle and lung, less so in liver, brain and kidney. muscle tissue UBERON:0002385 Y Y UniProtKB BP, DGA 4/3/2013 151 3300011700 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/subcellular location Golgi apparatus membrane;Peripheral membrane protein Golgi membrane GO:0000139 SL-0134 Y Y UniProtKB BP, DGA 4/3/2013 151 3300011702 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/subcellular location Cell membrane;Peripheral membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB BP, DGA 4/3/2013 151 3300011703 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/subcellular location Caveola;Peripheral membrane protein caveola GO:0005901 SL-0035 Y Y UniProtKB BP, DGA 4/3/2013 151 3300011704 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/subcellular location Membrane raft membrane raft GO:0045121 SL-0370 Y Y UniProtKB BP, DGA 4/3/2013 151 3300011705 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/Involvement in disease Congenital generalized lipodystrophy 3 (CGL3) [MIM:612526]: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:612526 congenital generalized lipodystrophy DOID:0050585 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:18211975 UniProtKB BP, DGA 5/29/2013 153 3300011707 Faith P28906 947 CD34 Homo sapiens 9606 Comment/tissue specificity Selectively expressed on hematopoietic progenitor cells and the small vessel endothelium of a variety of tissues. hematopoietic cell line BTO:0001035 hematopoietic cell CL:0000988 Y Y PubMed:1370171 UniProtKB Cell lines KMT-2 and AML-1 were not found in ontologies BP, DGA 4/3/2013 122 3300011708 Faith P28906 947 CD34 Homo sapiens 9606 Comment/tissue specificity Selectively expressed on hematopoietic progenitor cells and the small vessel endothelium of a variety of tissues. blood vessel endothelium BTO:0000766 Y Y UniProtKB small vessel endothelium BP, DGA 4/3/2013 122 3300011709 Faith P28906 947 CD34 Homo sapiens 9606 Comment/tissue specificity Selectively expressed on hematopoietic progenitor cells and the small vessel endothelium of a variety of tissues. blood vessel endothelium UBERON:0004638 Y Y UniProtKB small vessel endothelium BP, DGA 4/3/2013 122 3300011710 Faith P28906 947 CD34 Homo sapiens 9606 Comment/tissue specificity Selectively expressed on hematopoietic progenitor cells and the small vessel endothelium of a variety of tissues. KG-1 cell BTO:0000670 KG-1 cell CLO:0007093 Y Y PubMed:1370171 UniProtKB BP, DGA 4/3/2013 122 3300011711 Faith P28906 947 CD34 Homo sapiens 9606 Comment/tissue specificity Selectively expressed on hematopoietic progenitor cells and the small vessel endothelium of a variety of tissues. MOLT-13 cell BTO:0004171 MOLT-13 cell CLO:0007820 Y Y PubMed:1370171 UniProtKB BP, DGA 4/3/2013 122 3300011712 Faith P28906 947 CD34 Homo sapiens 9606 Comment/tissue specificity Selectively expressed on hematopoietic progenitor cells and the small vessel endothelium of a variety of tissues. T-lymphocyte cell line BTO:0001045 RPMI 8402 cell CLO:0008874 Y Y PubMed:1370171 UniProtKB BP, DGA 4/3/2013 122 3300011713 Faith P28906 947 CD34 Homo sapiens 9606 Comment/tissue specificity Selectively expressed on hematopoietic progenitor cells and the small vessel endothelium of a variety of tissues. umbilical vein endothelial cell line BTO:0001520 immortal human umbilical vein-derived endothelial cell line cell CLO:0000780 Y Y PubMed:1370171 UniProtKB Cell line EA.hy926, not found in any ontology BP, DGA 4/3/2013 122 3300011714 Faith P28906 947 CD34 Homo sapiens 9606 Comment/subcellular location Membrane;Single-pass type I membrane protein membrane GO:0016020 SL-0162 Y Y UniProtKB BP, DGA 4/3/2013 122 3300011716 Faith P23946 1215 CMA1 Homo sapiens 9606 Comment/tissue specificity Mast cells in lung, heart, skin and placenta. Expressed in both normal skin and in urticaria pigmentosa lesions. heart BTO:0000562 mast cell CL:0000097 Y Y ECO:0000006 PubMed:8144971 UniProtKB BP, DGA 4/3/2013 136 3300011719 Faith P23946 1215 CMA1 Homo sapiens 9606 Comment/tissue specificity Mast cells in lung, heart, skin and placenta. Expressed in both normal skin and in urticaria pigmentosa lesions. heart UBERON:0000948 mast cell CL:0000097 Y Y ECO:0000006 PubMed:8144971 UniProtKB BP, DGA 4/3/2013 136 3300011720 Faith P23946 1215 CMA1 Homo sapiens 9606 Comment/tissue specificity Mast cells in lung, heart, skin and placenta. Expressed in both normal skin and in urticaria pigmentosa lesions. lung BTO:0000763 mast cell CL:0000097 Y Y ECO:0000006 PubMed:8144971 UniProtKB BP, DGA 4/3/2013 136 3300011721 Faith P23946 1215 CMA1 Homo sapiens 9606 Comment/tissue specificity Mast cells in lung, heart, skin and placenta. Expressed in both normal skin and in urticaria pigmentosa lesions. lung UBERON:0002048 mast cell CL:0000097 Y Y ECO:0000006 PubMed:8144971 UniProtKB BP, DGA 4/3/2013 136 3300011722 Faith P23946 1215 CMA1 Homo sapiens 9606 Comment/tissue specificity Mast cells in lung, heart, skin and placenta. Expressed in both normal skin and in urticaria pigmentosa lesions. placenta BTO:0001078 mast cell CL:0000097 Y Y ECO:0000006 PubMed:8144971 UniProtKB BP, DGA 4/3/2013 136 3300011723 Faith P23946 1215 CMA1 Homo sapiens 9606 Comment/tissue specificity Mast cells in lung, heart, skin and placenta. Expressed in both normal skin and in urticaria pigmentosa lesions. placenta UBERON:0001987 mast cell CL:0000097 Y Y ECO:0000006 PubMed:8144971 UniProtKB BP, DGA 4/3/2013 136 3300011724 Faith P23946 1215 CMA1 Homo sapiens 9606 Comment/tissue specificity Mast cells in lung, heart, skin and placenta. Expressed in both normal skin and in urticaria pigmentosa lesions. skin BTO:0001253 mast cell CL:0000097 Y Y ECO:0000006 PubMed:8144971 UniProtKB BP, DGA 4/3/2013 136 3300011725 Faith P23946 1215 CMA1 Homo sapiens 9606 Comment/tissue specificity Mast cells in lung, heart, skin and placenta. Expressed in both normal skin and in urticaria pigmentosa lesions. skin of body UBERON:0002097 mast cell CL:0000097 Y Y ECO:0000006 PubMed:8144971 UniProtKB BP, DGA 4/3/2013 136 3300011726 Faith P23946 1215 CMA1 Homo sapiens 9606 EC 3.4.21.39 Y Y EC number UniProtKB BP, DGA 4/3/2013 136 3300011727 Faith P23946 1215 CMA1 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB BP, DGA 4/3/2013 136 3300011729 Faith P23946 1215 CMA1 Homo sapiens 9606 Comment/tissue specificity Mast cells in lung, heart, skin and placenta. Expressed in both normal skin and in urticaria pigmentosa lesions. skin BTO:0001253 urticaria pigmentosa DOID:12309 Y Y ECO:0000006 PubMed:8144971 UniProtKB In urticaria pigmentosa lesions BP, DGA 4/3/2013 136 3300011732 Faith P23946 1215 CMA1 Homo sapiens 9606 Comment/tissue specificity Mast cells in lung, heart, skin and placenta. Expressed in both normal skin and in urticaria pigmentosa lesions. skin of body UBERON:0002097 urticaria pigmentosa DOID:12309 Y Y ECO:0000006 PubMed:8144971 UniProtKB In urticaria pigmentosa lesions BP, DGA 4/3/2013 136 3300011733 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/tissue specificity Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite. bone BTO:0000140 Y Y UniProtKB BP, DGA 4/3/2013 157 3300011734 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/tissue specificity Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite. bone element UBERON:0001474 Y Y UniProtKB BP, DGA 4/3/2013 157 3300011735 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/tissue specificity Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite. tendon BTO:0001356 Y Y UniProtKB BP, DGA 4/3/2013 157 3300011736 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/tissue specificity Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite. tendon UBERON:0000043 Y Y UniProtKB BP, DGA 4/3/2013 157 3300011737 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/subcellular location Extracellular matrix proteinaceous extracellular matrix GO:0005578 SL-0111 Y Y UniProtKB BP, DGA 4/3/2013 157 3300011739 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/tissue specificity Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite. ligament UBERON:0000211 Y Y UniProtKB BP, DGA 4/3/2013 157 3300011740 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease Ehlers-Danlos syndrome 7B (EDS7B) [MIM:130060]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:130060 Ehlers-Danlos syndrome DOID:13359 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:2394758 PubMed:1577745 PubMed:3680255 UniProtKB BP, DGA 5/29/2013 159 3300011741 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease Ehlers-Danlos syndrome 7B (EDS7B) [MIM:130060]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:130060 Ehlers-Danlos syndrome type VII SNOMEDCT:238849005 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:2394758 PubMed:1577745 PubMed:3680255 UniProtKB BP, DGA 5/29/2013 159 3300011742 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease Osteogenesis imperfecta 1 (OI1) [MIM:166200]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:166200 osteogenesis imperfecta DOID:12347 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:1990009 PubMed:8456807 PubMed:8829649 PubMed:16705691 PubMed:16786509 UniProtKB BP, DGA 5/29/2013 159 3300011743 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease Osteogenesis imperfecta 1 (OI1) [MIM:166200]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:166200 Osteogenesis imperfecta type I SNOMEDCT:385482004 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:1990009 PubMed:8456807 PubMed:8829649 PubMed:16705691 PubMed:16786509 UniProtKB BP, DGA 5/29/2013 159 3300011744 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease Osteogenesis imperfecta 2 (OI2) [MIM:166210]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI2 is characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:166210 osteogenesis imperfecta DOID:12347 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB BP, DGA 5/29/2013 159 3300011745 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease Osteogenesis imperfecta 2 (OI2) [MIM:166210]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI2 is characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:166210 Osteogenesis imperfecta, perinatal lethal SNOMEDCT:205496008 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB BP, DGA 5/29/2013 159 3300011746 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form (EDSCV) [MIM:225320]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. In addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation, patients have mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:225320 Ehlers-Danlos syndrome DOID:13359 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB BP, DGA 5/29/2013 159 3300011747 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form (EDSCV) [MIM:225320]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. In addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation, patients have mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:225320 Ehlers-Danlos syndrome SNOMEDCT:2300005 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB BP, DGA 5/29/2013 159 3300011748 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease Osteogenesis imperfecta 3 (OI3) [MIM:259420]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:259420 osteogenesis imperfecta DOID:12347 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB BP, DGA 5/29/2013 159 3300011749 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease Osteogenesis imperfecta 3 (OI3) [MIM:259420]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:259420 Osteogenesis imperfecta type III SNOMEDCT:385483009 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB BP, DGA 5/29/2013 159 3300011750 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease Osteogenesis imperfecta 4 (OI4) [MIM:166220]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:166220 osteogenesis imperfecta DOID:12347 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB BP, DGA 5/29/2013 159 3300011751 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease Osteogenesis imperfecta 4 (OI4) [MIM:166220]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:166220 Osteogenesis imperfecta with normal sclerae, dominant form SNOMEDCT:50937002 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB BP, DGA 5/29/2013 159 3300011752 Faith P08123 1278 COL1A2 Homo sapiens 9606 Comment/Involvement in disease Note=A chromosomal aberration involving COL1A2 may be a cause of lipoblastomas, which are benign tumors resulting from transformation of adipocytes, usually diagnosed in children. Translocation t(7;8)(p22;q13) with PLAG1. Lipoblastoma SNOMEDCT:400102008 A chromosomal aberration involving COL1A2 may be a cause of lipoblastomas, which are benign tumors resulting from transformation of adipocytes, usually diagnosed in children. Translocation t(7;8)(p22;q13) with PLAG1. Y Y UniProtKB BP, DGA 5/29/2013 159 3300011753 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart. Expressed in heart myocytes. Also expressed in pregnant uterus. Detected in blood, in plasma as well as in serum (at protein level). parenchyma BTO:0001539 cardiac muscle cell CL:0000746 Y Y ECO:0000006 PubMed:22437503 PubMed:10329693 UniProtKB BP, DGA 4/3/2013 123 3300011754 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart. Expressed in heart myocytes. Also expressed in pregnant uterus. Detected in blood, in plasma as well as in serum (at protein level). blood BTO:0000089 Y Y ECO:0000006 PubMed:22437503 PubMed:10329693 UniProtKB BP, DGA 4/3/2013 123 3300011755 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart. Expressed in heart myocytes. Also expressed in pregnant uterus. Detected in blood, in plasma as well as in serum (at protein level). blood UBERON:0000178 Y Y ECO:0000006 PubMed:22437503 PubMed:10329693 UniProtKB BP, DGA 4/3/2013 123 3300011756 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart. Expressed in heart myocytes. Also expressed in pregnant uterus. Detected in blood, in plasma as well as in serum (at protein level). blood plasma BTO:0000131 Y Y ECO:0000006 PubMed:22437503 PubMed:10329693 UniProtKB BP, DGA 4/3/2013 123 3300011757 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart. Expressed in heart myocytes. Also expressed in pregnant uterus. Detected in blood, in plasma as well as in serum (at protein level). blood plasma UBERON:0001969 Y Y ECO:0000006 PubMed:22437503 PubMed:10329693 UniProtKB BP, DGA 4/3/2013 123 3300011758 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart. Expressed in heart myocytes. Also expressed in pregnant uterus. Detected in blood, in plasma as well as in serum (at protein level). blood serum BTO:0000133 Y Y ECO:0000006 PubMed:22437503 PubMed:10329693 UniProtKB BP, DGA 4/3/2013 123 3300011759 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart. Expressed in heart myocytes. Also expressed in pregnant uterus. Detected in blood, in plasma as well as in serum (at protein level). serum UBERON:0001977 Y Y ECO:0000006 PubMed:22437503 PubMed:10329693 UniProtKB BP, DGA 4/3/2013 123 3300011760 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart. Expressed in heart myocytes. Also expressed in pregnant uterus. Detected in blood, in plasma as well as in serum (at protein level). heart BTO:0000562 Y Y ECO:0000006 PubMed:22437503 PubMed:10329693 UniProtKB BP, DGA 4/3/2013 123 3300011761 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart. Expressed in heart myocytes. Also expressed in pregnant uterus. Detected in blood, in plasma as well as in serum (at protein level). heart UBERON:0000948 Y Y ECO:0000006 PubMed:22437503 PubMed:10329693 UniProtKB BP, DGA 4/3/2013 123 3300011762 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart. Expressed in heart myocytes. Also expressed in pregnant uterus. Detected in blood, in plasma as well as in serum (at protein level). uterus BTO:0001424 gravid adult BTO:0004733 Y Y ECO:0000006 PubMed:22437503 PubMed:10329693 UniProtKB BP, DGA 4/3/2013 123 3300011763 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart. Expressed in heart myocytes. Also expressed in pregnant uterus. Detected in blood, in plasma as well as in serum (at protein level). gravid uterus UBERON:0009098 gravid adult BTO:0004733 Y Y ECO:0000006 PubMed:22437503 PubMed:10329693 UniProtKB BP, DGA 4/3/2013 123 3300011764 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 EC 3.4.21.- Y Y EC number UniProtKB BP, DGA 4/3/2013 123 3300011765 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB BP, DGA 4/3/2013 123 3300011769 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/Involvement in disease Pre-eclampsia/eclampsia 5 (PEE5) [MIM:614595]: A hypertensive disorder of pregnancy characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. It impacts 2 individuals, the mother and her child, both of whom can be severely affected. Preeclampsia is one of the causes of maternal mortality and morbidity worldwide. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:614595 pre-eclampsia DOID:10591 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:22437503 UniProtKB BP, DGA 5/1/2013 124 3300011771 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/Involvement in disease Pre-eclampsia/eclampsia 5 (PEE5) [MIM:614595]: A hypertensive disorder of pregnancy characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. It impacts 2 individuals, the mother and her child, both of whom can be severely affected. Preeclampsia is one of the causes of maternal mortality and morbidity worldwide. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:614595 Eclampsia in pregnancy SNOMEDCT:198992004 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:22437503 UniProtKB BP, DGA 5/1/2013 124 3300011772 Faith P15088 1359 CPA3 Homo sapiens 9606 EC 3.4.17.1 Y Y EC number UniProtKB BP 4/3/2013 126 3300011773 Katie P15088 1359 CPA3 Homo sapiens 9606 Comment/subcellular location Secretory vesicle transport vesicle GO:0030133 SL-0244 Y Y UniProtKB BP 4/3/2013 126 3300011774 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/tissue specificity Primarily in the liver and small intestine. liver BTO:0000759 Y Y UniProtKB BP, DGA 4/3/2013 155 3300011776 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/tissue specificity Primarily in the liver and small intestine. liver UBERON:0002107 Y Y UniProtKB BP, DGA 4/3/2013 155 3300011777 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/tissue specificity Primarily in the liver and small intestine. small intestine BTO:0000651 Y Y UniProtKB BP, DGA 4/3/2013 155 3300011778 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/tissue specificity Primarily in the liver and small intestine. small intestine UBERON:0002108 Y Y UniProtKB BP, DGA 4/3/2013 155 3300011779 Faith P31327 1373 CPS1 Homo sapiens 9606 EC 6.3.4.16 Y Y EC number UniProtKB BP, DGA 4/3/2013 155 3300011780 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/subcellular location Mitochondrion mitochondrion GO:0005739 SL-0173 Y Y UniProtKB BP, DGA 4/3/2013 155 3300011782 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/subcellular location Nucleolus nucleolus GO:0005730 SL-0188 Y Y UniProtKB BP, DGA 4/3/2013 155 3300011783 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]: An autosomal recessive disorder of the urea cycle causing hyperammonemia. It can present as a devastating metabolic disease dominated by severe hyperammonemia in neonates or as a more insidious late-onset condition, generally manifesting as lifethreatening hyperammonemic crises under catabolic situations. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and mental retardation. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:237300 carbamoyl phosphate synthetase I deficiency disease DOID:9280 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:9711878 PubMed:12955727 PubMed:12655559 PubMed:11388595 PubMed:11474210 PubMed:15617192 PubMed:15164414 PubMed:16737834 PubMed:17310273 PubMed:20578160 PubMed:20520828 PubMed:21120950 UniProtKB BP, DGA 5/29/2013 157 3300011784 Faith P31327 1373 CPS1 Homo sapiens 9606 Comment/Involvement in disease Note=Genetic variations in CPS1 influence the availability of precursors for nitric oxide (NO) synthesis and play a role in clinical situations where endogenous NO production is critically important, such as neonatal pulmonary hypertension, increased pulmonary artery pressure following surgical repair of congenital heart defects or hepatovenocclusive disease following bone marrow transplantation. Infants with neonatal pulmonary hypertension homozygous for Thr-1406 have lower L-arginine concentrations than neonates homozygous for Asn-1406. Neonatal hypertension SNOMEDCT:206596003 Genetic variations in CPS1 influence the availability of precursors for nitric oxide (NO) synthesis and play a role in clinical situations where endogenous NO production is critically important, such as neonatal pulmonary hypertension, increased pulmonary artery pressure following surgical repair of congenital heart defects or hepatovenocclusive disease following bone marrow transplantation. Infants with neonatal pulmonary hypertension homozygous for Thr-1406 have lower L-arginine concentrations than neonates homozygous for Asn-1406. Y Y ECO:0000006 PubMed:20520828 UniProtKB neonatal pulmonary hypertension BP, DGA 5/29/2013 157 3300011785 Faith P08311 1511 CTSG Homo sapiens 9606 EC 3.4.21.20 Y Y EC number UniProtKB BP, DGA 4/3/2013 134 3300011788 Faith P08311 1511 CTSG Homo sapiens 9606 Comment/subcellular location Cell surface cell surface GO:0009986 SL-0310 Y Y UniProtKB BP, DGA 4/3/2013 134 3300011790 Faith Q9UBR2 1522 CTSZ Homo sapiens 9606 EC 3.4.18.1 Y Y EC number UniProtKB BP 4/3/2013 124 3300011791 Faith Q9UBR2 1522 CTSZ Homo sapiens 9606 Comment/subcellular location Lysosome lysosome GO:0005764 SL-0158 Y Y UniProtKB BP 4/3/2013 124 3300011793 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Comment/subcellular location Mitochondrion membrane mitochondrial membrane GO:0031966 SL-0171 Y Y UniProtKB BP, DGA 4/3/2013 148 3300011796 Rose P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease Adrenal hyperplasia 4 (AH4) [MIM:202010]: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH)and 'cryptic' (asymptomatic). Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:202010 congenital adrenal hyperplasia DOID:12255 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:2022736 PubMed:9302260 PubMed:16046588 PubMed:20331679 PubMed:20947076 UniProtKB BP, DGA 5/29/2013 150 3300011797 Rose P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease Adrenal hyperplasia 4 (AH4) [MIM:202010]: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH)and 'cryptic' (asymptomatic). Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:202010 Congenital adrenal hyperplasia SNOMEDCT:237751000 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:2022736 PubMed:9302260 PubMed:16046588 PubMed:20331679 PubMed:20947076 UniProtKB BP, DGA 5/29/2013 150 3300011798 Rose P15538 1584 CYP11B1 Homo sapiens 9606 Comment/Involvement in disease Familial hyperaldosteronism 1 (FH1) [MIM:103900]: A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. Note=The disease is caused by mutations affecting the gene represented in this entry. The molecular defect causing hyperaldosteronism familial 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2. MIM:103900 glucocorticoid-remediable aldosteronism DOID:14080 ICD:255.11 The disease is caused by mutations affecting the gene represented in this entry. The molecular defect causing hyperaldosteronism familial 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2. Y Y UniProtKB BP, DGA 5/29/2013 150 3300011799 Faith P19099 1585 CYP11B2 Homo sapiens 9606 Comment/subcellular location Mitochondrion membrane mitochondrial membrane GO:0031966 SL-0171 Y Y UniProtKB BP, DGA 4/3/2013 148 3300011801 Rose P19099 1585 CYP11B2 Homo sapiens 9606 Comment/Involvement in disease Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) [MIM:203400]: Autosomal recessive disorder of aldosterone biosynthesis. There are two biochemically different forms of selective aldosterone deficiency be termed corticosterone methyloxidase (CMO) deficiency type 1 and type 2. In CMO-1 deficiency, aldosterone is undetectable in plasma, while its immediate precursor, 18-hydroxycorticosterone, is low or normal. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:203400 Hyporeninemic hypoaldosteronism SNOMEDCT:236464008 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:8439335 UniProtKB BP, DGA 5/29/2013 150 3300011802 Rose P19099 1585 CYP11B2 Homo sapiens 9606 Comment/Involvement in disease Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600]: Autosomal recessive disorder of aldosterone biosynthesis. In CMO-2 deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-hydroxycorticosterone. Consequently, patients have a greatly increased ratio of 18-hydroxycorticosterone to aldosterone and a low ratio of corticosterone to 18-hydroxycorticosterone in serum. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:610600 Hyporeninemic hypoaldosteronism SNOMEDCT:236464008 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB BP, DGA 5/29/2013 150 3300011803 Rose P19099 1585 CYP11B2 Homo sapiens 9606 Comment/Involvement in disease Familial hyperaldosteronism 1 (FH1) [MIM:103900]: A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. Note=The disease is caused by mutations affecting the gene represented in this entry. The molecular defect causing hyperaldosteronism familial 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2. MIM:103900 glucocorticoid-remediable aldosteronism DOID:14080 ICD:255.11 The disease is caused by mutations affecting the gene represented in this entry. The molecular defect causing hyperaldosteronism familial 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2. Y Y ECO:0000006 PubMed:8439335 UniProtKB BP, DGA 5/29/2013 150 3300011804 Faith P00374 1719 DHFR Homo sapiens 9606 Comment/tissue specificity Widely expressed in fetal and adult tissues, including throughout the fetal and adult brains and whole blood. Expression is higher in the adult brain than in the fetal brain. blood BTO:0000089 Y Y ECO:0000006 PubMed:21310276 UniProtKB BP 4/3/2013 151 3300011805 Faith P00374 1719 DHFR Homo sapiens 9606 Comment/tissue specificity Widely expressed in fetal and adult tissues, including throughout the fetal and adult brains and whole blood. Expression is higher in the adult brain than in the fetal brain. blood UBERON:0000178 Y Y ECO:0000006 PubMed:21310276 UniProtKB BP 4/3/2013 151 3300011806 Faith P00374 1719 DHFR Homo sapiens 9606 Comment/tissue specificity Widely expressed in fetal and adult tissues, including throughout the fetal and adult brains and whole blood. Expression is higher in the adult brain than in the fetal brain. brain BTO:0000142 fetus BTO:0000449 Y Y ECO:0000006 PubMed:21310276 UniProtKB BP 4/3/2013 151 3300011807 Faith P00374 1719 DHFR Homo sapiens 9606 Comment/tissue specificity Widely expressed in fetal and adult tissues, including throughout the fetal and adult brains and whole blood. Expression is higher in the adult brain than in the fetal brain. brain UBERON:0000955 fetus BTO:0000449 Y Y ECO:0000006 PubMed:21310276 UniProtKB BP 4/3/2013 151 3300011808 Faith P00374 1719 DHFR Homo sapiens 9606 Comment/tissue specificity Widely expressed in fetal and adult tissues, including throughout the fetal and adult brains and whole blood. Expression is higher in the adult brain than in the fetal brain. brain BTO:0000142 Y Y ECO:0000006 PubMed:21310276 UniProtKB BP 4/3/2013 151 3300011809 Faith P00374 1719 DHFR Homo sapiens 9606 Comment/tissue specificity Widely expressed in fetal and adult tissues, including throughout the fetal and adult brains and whole blood. Expression is higher in the adult brain than in the fetal brain. brain UBERON:0000955 Y Y ECO:0000006 PubMed:21310276 UniProtKB BP 4/3/2013 151 3300011810 Faith P00374 1719 DHFR Homo sapiens 9606 EC 1.5.1.3 Y Y EC number UniProtKB BP 4/3/2013 151 3300011811 Faith P00374 1719 DHFR Homo sapiens 9606 Comment/pathway Cofactor biosynthesis; tetrahydrofolate biosynthesis; 5,6,7,8-tetrahydrofolate from 7,8-dihydrofolate: step 1/1. cofactor biosynthetic process GO:0051188 UPA00399 Y Y UniProtKB BP 4/3/2013 151 3300011813 Faith P00374 1719 DHFR Homo sapiens 9606 Comment/Involvement in disease Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839]: An inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency. Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:613839 megaloblastic anemia DOID:13382 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:21310276 PubMed:21310277 UniProtKB BP 5/29/2013 153 3300011815 Faith P00374 1719 DHFR Homo sapiens 9606 Comment/Involvement in disease Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839]: An inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency. Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:613839 Dihydrofolate reductase deficiency SNOMEDCT:41703002 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:21310276 PubMed:21310277 UniProtKB BP 5/29/2013 153 3300011816 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/subcellular location Microtubule-associated. Also found in the postsynaptic density of neuronal cells. neuron BTO:0000938 neuron CL:0000540 Y Y UniProtKB BP 4/3/2013 137 3300011817 Faith P50570 1785 DNM2 Homo sapiens 9606 EC 3.6.5.5 Y Y EC number UniProtKB BP 4/3/2013 137 3300011818 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y UniProtKB BP 4/3/2013 137 3300011821 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/subcellular location Cytoskeleton cytoskeleton GO:0005856 SL-0090 Y Y UniProtKB BP 4/3/2013 137 3300011822 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/subcellular location Postsynaptic density postsynaptic density GO:0014069 SL-0297 Y Y UniProtKB BP 4/3/2013 137 3300011823 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/subcellular location Synapse synapse GO:0045202 SL-0258 Y Y UniProtKB BP 4/3/2013 137 3300011824 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/subcellular location Midbody midbody GO:0030496 SL-0469 Y Y UniProtKB BP 4/3/2013 137 3300011825 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease Myopathy, centronuclear, 1 (CNM1) [MIM:160150]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:160150 centronuclear myopathy DOID:14717 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:16227997 PubMed:17932957 PubMed:17825552 PubMed:19623537 PubMed:19122038 PubMed:19932620 PubMed:19932619 PubMed:20227276 PubMed:22396310 UniProtKB BP 5/29/2013 139 3300011827 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease Myopathy, centronuclear, 1 (CNM1) [MIM:160150]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:160150 Centronuclear myopathy SNOMEDCT:193223007 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:16227997 PubMed:17932957 PubMed:17825552 PubMed:19623537 PubMed:19122038 PubMed:19932620 PubMed:19932619 PubMed:20227276 PubMed:22396310 UniProtKB BP 5/29/2013 139 3300011828 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease Charcot-Marie-Tooth disease, dominant, intermediate type, B (CMTDIB) [MIM:606482]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type B is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:606482 Charcot-Marie-Tooth disease intermediate type DOID:0050543 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:19623537 PubMed:15731758 UniProtKB BP 5/29/2013 139 3300011829 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/Involvement in disease Charcot-Marie-Tooth disease 2M (CMT2M) [MIM:606482]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:606482 Charcot-Marie-Tooth disease intermediate type DOID:0050543 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB BP 5/29/2013 139 3300011830 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. endothelial cell BTO:0001176 endothelial cell CL:0000115 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoforms B, C, and D DGA, BP 4/3/2013 136 3300011831 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. HUVEC cell BTO:0001949 endothelial cell of umbilical vein CL:0002618 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB all isoforms DGA, BP 4/3/2013 136 3300011832 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. fibroblast BTO:0000452 fibroblast CL:0000057 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB DGA, BP 4/3/2013 136 3300011833 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. neutrophil BTO:0000130 neutrophil CL:0000775 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB DGA, BP 4/3/2013 136 3300011834 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. parenchyma BTO:0001539 regular atrial cardiac myocyte CL:0002129 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB DGA, BP 4/3/2013 136 3300011835 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. vascular smooth muscle cell BTO:0004578 smooth muscle cell of the umbilical vein CL:0002588 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoforms B, C, and D DGA, BP 4/3/2013 136 3300011836 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. adrenal gland BTO:0000047 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoforms A, B and C DGA, BP 4/3/2013 136 3300011837 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. adrenal gland UBERON:0002369 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoforms A, B and C DGA, BP 4/3/2013 136 3300011838 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. heart BTO:0000562 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoforms A, B and C DGA, BP 4/3/2013 136 3300011839 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. heart UBERON:0000948 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoforms A, B and C DGA, BP 4/3/2013 136 3300011840 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. heart ventricle BTO:0000862 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB DGA, BP 4/3/2013 136 3300011841 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. cardiac ventricle UBERON:0002082 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB DGA, BP 4/3/2013 136 3300011842 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. kidney BTO:0000671 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoform C DGA, BP 4/3/2013 136 3300011843 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoform C DGA, BP 4/3/2013 136 3300011844 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. liver BTO:0000759 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoforms A and C DGA, BP 4/3/2013 136 3300011845 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. liver UBERON:0002107 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoforms A and C DGA, BP 4/3/2013 136 3300011846 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. lung BTO:0000763 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoforms A, B and C DGA, BP 4/3/2013 136 3300011847 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. lung UBERON:0002048 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoforms A, B and C DGA, BP 4/3/2013 136 3300011848 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. placenta BTO:0001078 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoforms A, B and C DGA, BP 4/3/2013 136 3300011849 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. placenta UBERON:0001987 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoforms A, B and C DGA, BP 4/3/2013 136 3300011850 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. saphenous vein BTO:0001808 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoform C and D DGA, BP 4/3/2013 136 3300011851 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. saphenous vein UBERON:0007318 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoform C and D DGA, BP 4/3/2013 136 3300011852 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. small intestine BTO:0000651 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoforms A and C DGA, BP 4/3/2013 136 3300011853 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. small intestine UBERON:0002108 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoforms A and C DGA, BP 4/3/2013 136 3300011854 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. testis BTO:0001363 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoforms A and C DGA, BP 4/3/2013 136 3300011855 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. testis UBERON:0000473 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoforms A and C DGA, BP 4/3/2013 136 3300011856 Faith P42892 1889 ECE1 Homo sapiens 9606 EC 3.4.24.71 Y Y EC number UniProtKB DGA, BP 4/3/2013 136 3300011857 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. phaeochromocytoma DOID:0050771 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoforms A, B and C DGA, BP 4/3/2013 136 3300011860 Faith P42892 1889 ECE1 Homo sapiens 9606 Comment/tissue specificity All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney. Pheochromocytoma SNOMEDCT:302835009 Y Y ECO:0000006 PubMed:9396733 PubMed:10491078 UniProtKB Isoforms A, B and C DGA, BP 4/3/2013 136 3300011861 Faith P05305 1906 EDN1 Homo sapiens 9606 Comment/tissue specificity Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells. vascular smooth muscle cell BTO:0004578 placenta BTO:0001078 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP, DGA, AAE 4/3/2013 151 3300011864 Faith P05305 1906 EDN1 Homo sapiens 9606 Comment/tissue specificity Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells. lung BTO:0000763 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP, DGA, AAE 4/3/2013 151 3300011865 Faith P05305 1906 EDN1 Homo sapiens 9606 Comment/tissue specificity Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells. lung UBERON:0002048 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP, DGA, AAE 4/3/2013 151 3300011866 Faith P05305 1906 EDN1 Homo sapiens 9606 Comment/tissue specificity Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells. vasculature BTO:0003718 placenta BTO:0001078 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP, DGA, AAE 4/3/2013 151 3300011867 Faith P05305 1906 EDN1 Homo sapiens 9606 Comment/tissue specificity Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells. blood vasculature UBERON:0004537 placenta BTO:0001078 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP, DGA, AAE 4/3/2013 151 3300011868 Faith P05305 1906 EDN1 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB BP, DGA, AAE 4/3/2013 151 3300011870 Faith P20800 1907 EDN2 Homo sapiens 9606 Comment/tissue specificity Expressed in lung, but not in placental stem villi vessels or cultured placental villi smooth muscle cells. lung BTO:0000763 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP, AAE 4/3/2013 128 3300011871 Faith P20800 1907 EDN2 Homo sapiens 9606 Comment/tissue specificity Expressed in lung, but not in placental stem villi vessels or cultured placental villi smooth muscle cells. lung UBERON:0002048 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP, AAE 4/3/2013 128 3300011872 Faith P20800 1907 EDN2 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB BP, AAE 4/3/2013 128 3300011874 Faith P14138 1908 EDN3 Homo sapiens 9606 Comment/tissue specificity Expressed in trophoblasts and placental stem villi vessels, but not in cultured placental smooth muscle cells. trophoblast BTO:0001079 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP 4/3/2013 142 3300011875 Faith P14138 1908 EDN3 Homo sapiens 9606 Comment/tissue specificity Expressed in trophoblasts and placental stem villi vessels, but not in cultured placental smooth muscle cells. trophoblast UBERON:0000088 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP 4/3/2013 142 3300011876 Faith P14138 1908 EDN3 Homo sapiens 9606 Comment/tissue specificity Expressed in trophoblasts and placental stem villi vessels, but not in cultured placental smooth muscle cells. vasculature BTO:0003718 placenta BTO:0001078 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP 4/3/2013 142 3300011877 Faith P14138 1908 EDN3 Homo sapiens 9606 Comment/tissue specificity Expressed in trophoblasts and placental stem villi vessels, but not in cultured placental smooth muscle cells. blood vasculature UBERON:0004537 placenta BTO:0001078 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP 4/3/2013 142 3300011878 Faith P14138 1908 EDN3 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB BP 4/3/2013 142 3300011880 Faith P14138 1908 EDN3 Homo sapiens 9606 Comment/Involvement in disease Hirschsprung disease 4 (HSCR4) [MIM:613712]: A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:613712 Hirschsprung's disease DOID:10487 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:9359047 UniProtKB BP 5/29/2013 144 3300011881 Faith P14138 1908 EDN3 Homo sapiens 9606 Comment/Involvement in disease Hirschsprung disease 4 (HSCR4) [MIM:613712]: A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:613712 Hirschsprung's disease SNOMEDCT:156957008 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:9359047 UniProtKB BP 5/29/2013 144 3300011882 Faith P14138 1908 EDN3 Homo sapiens 9606 Comment/Involvement in disease Congenital central hypoventilation syndrome (CCHS) [MIM:209880]: Rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:209880 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:8696331 UniProtKB BP 5/29/2013 144 3300011883 Faith P14138 1908 EDN3 Homo sapiens 9606 Comment/Involvement in disease Waardenburg syndrome 4B (WS4B) [MIM:613265]: A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:613265 Waardenburg's syndrome DOID:9258 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:8630503 PubMed:11303518 PubMed:12189494 UniProtKB BP 5/29/2013 144 3300011884 Faith P14138 1908 EDN3 Homo sapiens 9606 Comment/Involvement in disease Waardenburg syndrome 4B (WS4B) [MIM:613265]: A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:613265 Waardenburg's syndrome SNOMEDCT:47434006 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:8630503 PubMed:11303518 PubMed:12189494 UniProtKB BP 5/29/2013 144 3300011885 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. adrenal gland BTO:0000047 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011887 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. adrenal gland UBERON:0002369 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011888 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. aorta BTO:0000135 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011889 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. aorta UBERON:0000947 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011890 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. atrium BTO:0000903 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011891 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. cardiac atrium UBERON:0002081 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011892 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. cerebellum BTO:0000232 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011893 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. cerebellum UBERON:0002037 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011894 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. cerebral cortex BTO:0000233 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011895 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. cerebral cortex UBERON:0000956 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011896 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. colon BTO:0000269 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011897 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. colon UBERON:0001155 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011898 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. duodenum BTO:0000365 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011899 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. duodenum UBERON:0002114 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011900 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. heart ventricle BTO:0000862 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011901 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. cardiac ventricle UBERON:0002082 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011902 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. kidney BTO:0000671 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011903 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011904 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. liver BTO:0000759 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011905 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. liver UBERON:0002107 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011906 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. lung BTO:0000763 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011907 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. lung UBERON:0002048 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011908 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. placenta BTO:0001078 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011909 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. placenta UBERON:0001987 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB Isoform 1, 3 and 4 BP, DGA 4/3/2013 136 3300011910 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. vasculature BTO:0003718 placenta BTO:0001078 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB placental stem villi vessels BP, DGA 4/3/2013 136 3300011911 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. blood vasculature UBERON:0004537 placenta BTO:0001078 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB placental stem villi vessels BP, DGA 4/3/2013 136 3300011912 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/tissue specificity Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels. villus BTO:0003121 placenta BTO:0001078 Y Y ECO:0000006 PubMed:8611157 PubMed:9284755 UniProtKB placental villi BP, DGA 4/3/2013 136 3300011913 Faith P25101 1909 EDNRA Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB BP, DGA 4/3/2013 136 3300011915 Faith P24530 1910 EDNRB Homo sapiens 9606 Comment/tissue specificity Expressed in placental stem villi vessels, but not in cultured placental villi smooth muscle cells. vasculature BTO:0003718 placenta BTO:0001078 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP, DGA 4/3/2013 155 3300011917 Faith P24530 1910 EDNRB Homo sapiens 9606 Comment/tissue specificity Expressed in placental stem villi vessels, but not in cultured placental villi smooth muscle cells. blood vasculature UBERON:0004537 placenta BTO:0001078 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP, DGA 4/3/2013 155 3300011918 Faith P24530 1910 EDNRB Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB BP, DGA 4/3/2013 155 3300011920 Rose P24530 1910 EDNRB Homo sapiens 9606 Comment/Involvement in disease Waardenburg syndrome 4A (WS4A) [MIM:277580]: A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:277580 Waardenburg's syndrome DOID:9258 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:8634719 PubMed:12189494 UniProtKB BP, DGA 5/29/2013 157 3300011921 Rose P24530 1910 EDNRB Homo sapiens 9606 Comment/Involvement in disease Hirschsprung disease 2 (HSCR2) [MIM:600155]: A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:600155 Hirschsprung's disease DOID:10487 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:8001158 PubMed:8852659 PubMed:8852660 PubMed:8630503 PubMed:11471546 UniProtKB BP, DGA 5/29/2013 157 3300011922 Faith P24530 1910 EDNRB Homo sapiens 9606 Comment/Involvement in disease ABCD syndrome (ABCDS) [MIM:600501]: An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:600501 ABCD syndrome DOID:0050600 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB BP, DGA 5/29/2013 157 3300011923 Mike/Faith P17813 2022 ENG Homo sapiens 9606 Comment/tissue specificity Endoglin is restricted to endothelial cells in all tissues except bone marrow. endothelial cell BTO:0001176 endothelial cell CL:0000115 Y Y UniProtKB BP, DGA 4/3/2013 147 3300011925 Mike/Faith P17813 2022 ENG Homo sapiens 9606 Comment/tissue specificity Endoglin is restricted to endothelial cells in all tissues except bone marrow. endothelium UBERON:0001986 endothelial cell CL:0000115 Y Y UniProtKB BP, DGA 4/3/2013 147 3300011926 Mike P17813 2022 ENG Homo sapiens 9606 Comment/function Major glycoprotein of vascular endothelium. May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors. vascular endothelium BTO:0001853 Y Y UniProtKB BP, DGA 4/3/2013 147 3300011927 Mike P17813 2022 ENG Homo sapiens 9606 Comment/function Major glycoprotein of vascular endothelium. May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors. blood vessel endothelium UBERON:0004638 Y Y UniProtKB BP, DGA 4/3/2013 147 3300011928 Mike P17813 2022 ENG Homo sapiens 9606 Comment/subcellular location Membrane;Single-pass type I membrane protein integral component of membrane GO:0016021 SL-0162 Y Y UniProtKB BP, DGA 4/3/2013 147 3300011929 Mike P17813 2022 ENG Homo sapiens 9606 Comment/Involvement in disease Hereditary hemorrhagic telangiectasia 1 (HHT1) [MIM:187300]: Autosomal dominant multisystemic vascular dysplasia, characterized by recurrent epistaxis, muco-cutaneous telangiectases, gastro-intestinal hemorrhage, and pulmonary (PAVM), cerebral (CAVM) and hepatic arteriovenous malformations; all secondary manifestations of the underlying vascular dysplasia. Although the first symptom of HHT1 in children is generally nose bleed, there is an important clinical heterogeneity. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:187300 hereditary hemorrhagic telangiectasia DOID:1270 ICD:448.0 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:9245986 PubMed:9157574 PubMed:9554745 PubMed:10545596 PubMed:10982033 PubMed:10625079 PubMed:15024723 PubMed:15712270 UniProtKB BP, DGA 5/29/2013 149 3300011930 Mike Q07075 2028 ENPEP Homo sapiens 9606 Comment/tissue specificity Expressed by epithelial cells of the proximal tubule cells and the glomerulus of the nephron. Also found in a variety of other tissues. proximale tubular epithelium BTO:0003576 Y Y UniProtKB BP, DGA 4/3/2013 135 3300011932 Mike Q07075 2028 ENPEP Homo sapiens 9606 Comment/tissue specificity Expressed by epithelial cells of the proximal tubule cells and the glomerulus of the nephron. Also found in a variety of other tissues. proximal tubule UBERON:0004134 Y Y UniProtKB BP, DGA 4/3/2013 135 3300011933 Mike Q07075 2028 ENPEP Homo sapiens 9606 Comment/tissue specificity Expressed by epithelial cells of the proximal tubule cells and the glomerulus of the nephron. Also found in a variety of other tissues. renal glomerulus BTO:0000530 Y Y UniProtKB BP, DGA 4/3/2013 135 3300011934 Mike Q07075 2028 ENPEP Homo sapiens 9606 Comment/tissue specificity Expressed by epithelial cells of the proximal tubule cells and the glomerulus of the nephron. Also found in a variety of other tissues. renal glomerulus UBERON:0000074 Y Y UniProtKB BP, DGA 4/3/2013 135 3300011935 Mike Q07075 2028 ENPEP Homo sapiens 9606 EC 3.4.11.7 Y Y EC number UniProtKB BP, DGA 4/3/2013 135 3300011936 Mike Q07075 2028 ENPEP Homo sapiens 9606 Comment/subcellular location Membrane;Single-pass type II membrane protein integral component of membrane GO:0016021 SL-0162 Y Y UniProtKB BP, DGA 4/3/2013 135 3300011938 Mike/Faith P30793 2643 GCH1 Homo sapiens 9606 Comment/function Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown. positive regulation of nitric oxide biosynthetic process GO:0045429 HUVEC cell BTO:0001949 endothelial cell of umbilical vein CL:0002618 Y Y ECO:0000006 PubMed:8068008 PubMed:9445252 PubMed:12176133 PubMed:16338639 PubMed:17057711 UniProtKB BP, DGA 4/3/2013 145 3300011939 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/tissue specificity In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level). melanocyte BTO:0000847 melanocyte CL:0000148 Y Y ECO:0000006 PubMed:16778797 UniProtKB BP, DGA 4/3/2013 145 3300011940 Mike/Faith P30793 2643 GCH1 Homo sapiens 9606 Comment/tissue specificity In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level). basal cell BTO:0000939 Y Y ECO:0000006 PubMed:16778797 UniProtKB BP, DGA 4/3/2013 145 3300011941 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/tissue specificity In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level). epidermis BTO:0000404 Y Y ECO:0000006 PubMed:16778797 UniProtKB BP, DGA 4/3/2013 145 3300011942 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/tissue specificity In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level). epidermis UBERON:0001003 Y Y ECO:0000006 PubMed:16778797 UniProtKB BP, DGA 4/3/2013 145 3300011943 Mike P30793 2643 GCH1 Homo sapiens 9606 EC 3.5.4.16 Y Y EC number UniProtKB BP, DGA 4/3/2013 145 3300011944 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/pathway Cofactor biosynthesis; 7,8-dihydroneopterin triphosphate biosynthesis; 7,8-dihydroneopterin triphosphate from GTP: step 1/1. 7,8-dihydroneopterin 3'-triphosphate biosynthetic process GO:0035998 UPA00399 Y Y UniProtKB BP, DGA 4/3/2013 145 3300011945 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/Involvement in disease GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]: A cause of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. It is also responsible for defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Some patients may present a phenotype of intermediate severity between severe hyperphenylalaninemia and mild dystonia type 5 (dystonia-parkinsonism with diurnal fluctuation). In this intermediate phenotype, there is marked motor delay, but no mental retardation and only minimal, if any, hyperphenylalaninemia. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:233910 GTP cyclohydrolase I deficiency SNOMEDCT:23447005 Y Y ECO:0000006 PubMed:7501255 PubMed:9667588 UniProtKB BP, DGA 5/29/2013 147 3300011948 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/Involvement in disease Dystonia 5 (DYT5) [MIM:128230]: A DOPA-responsive dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 5 typically presents in childhood with walking problems due to dystonia of the lower limbs and worsening of the dystonia towards the evening. It is characterized by postural and motor disturbances showing marked diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are alleviated after sleep and aggravated by fatigue and exercise. There is a favorable response to L-DOPA without side effects. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:128230 Y Y ECO:0000006 PubMed:7501255 PubMed:7874165 PubMed:8957022 PubMed:8852666 PubMed:9120469 PubMed:9328244 PubMed:9778264 PubMed:10987649 PubMed:10582612 PubMed:10208576 PubMed:10076897 PubMed:10825351 PubMed:11113234 PubMed:12391354 PubMed:17101830 UniProtKB BP, DGA 5/29/2013 147 3300011949 Faith P30047 2644 GCHFR Homo sapiens 9606 Comment/tissue specificity In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level). keratinocyte BTO:0000667 keratinocyte CL:0000312 Y Y ECO:0000006 PubMed:16778797 UniProtKB basal undifferentiated keratinocyte BP 4/3/2013 95 3300011951 Faith P30047 2644 GCHFR Homo sapiens 9606 Comment/tissue specificity In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level). melanocyte BTO:0000847 melanocyte CL:0000148 Y Y ECO:0000006 PubMed:16778797 UniProtKB BP 4/3/2013 95 3300011952 Faith P30047 2644 GCHFR Homo sapiens 9606 Comment/subcellular location Nucleus nucleus GO:0005634 SL-0191 Y Y UniProtKB BP 4/3/2013 95 3300011956 Faith P30047 2644 GCHFR Homo sapiens 9606 Comment/subcellular location Nucleus membrane nuclear membrane GO:0031965 SL-0182 Y Y UniProtKB BP 4/3/2013 95 3300011957 Faith P30047 2644 GCHFR Homo sapiens 9606 Comment/subcellular location Cytosol cytosol GO:0005829 SL-0091 Y Y UniProtKB BP 4/3/2013 95 3300011958 Mike P48506 2729 GCLC Homo sapiens 9606 EC 6.3.2.2 Y Y EC number UniProtKB BP, DGA 4/3/2013 121 3300011959 Mike P48506 2729 GCLC Homo sapiens 9606 Comment/Involvement in disease Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) [MIM:230450]: A disease characterized by hemolytic anemia, glutathione deficiency, myopathy, late-onset spinocerebellar degeneration, and peripheral neuropathy. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:230450 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:10515893 PubMed:10733484 PubMed:12663448 UniProtKB BP, DGA 5/1/2013 122 3300011961 Mike P48506 2730 GCLM Homo sapiens 9606 Comment/tissue specificity In all tissues examined. Highest levels in skeletal muscle. skeletal muscle BTO:0001103 Y Y UniProtKB BP, DGA 4/3/2013 115 3300011963 Mike P48506 2730 GCLM Homo sapiens 9606 Comment/tissue specificity In all tissues examined. Highest levels in skeletal muscle. skeletal muscle tissue UBERON:0001134 Y Y UniProtKB BP, DGA 4/3/2013 115 3300011964 Faith P07900 3320 HSP90AA1 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y UniProtKB BP 4/3/2013 178 3300011966 Faith P07900 3320 HSP90AA1 Homo sapiens 9606 Comment/subcellular location Melanosome melanosome GO:0042470 SL-0161 Y Y UniProtKB BP 4/3/2013 178 3300011967 Mike P41595 3357 HTR2B Homo sapiens 9606 Comment/tissue specificity Expressed in brain. Higher levels of expression are observed in the cerebellum, occipital cortex and frontal cortex. brain BTO:0000142 Y Y ECO:0000006 PubMed:21179162 UniProtKB BP 4/3/2013 126 3300011969 Mike P41595 3357 HTR2B Homo sapiens 9606 Comment/tissue specificity Expressed in brain. Higher levels of expression are observed in the cerebellum, occipital cortex and frontal cortex. brain UBERON:0000955 Y Y ECO:0000006 PubMed:21179162 UniProtKB BP 4/3/2013 126 3300011970 Mike P41595 3357 HTR2B Homo sapiens 9606 Comment/tissue specificity Expressed in brain. Higher levels of expression are observed in the cerebellum, occipital cortex and frontal cortex. cerebellum BTO:0000232 Y Y ECO:0000006 PubMed:21179162 UniProtKB BP 4/3/2013 126 3300011971 Mike P41595 3357 HTR2B Homo sapiens 9606 Comment/tissue specificity Expressed in brain. Higher levels of expression are observed in the cerebellum, occipital cortex and frontal cortex. cerebellum UBERON:0002037 Y Y ECO:0000006 PubMed:21179162 UniProtKB BP 4/3/2013 126 3300011972 Mike P41595 3357 HTR2B Homo sapiens 9606 Comment/tissue specificity Expressed in brain. Higher levels of expression are observed in the cerebellum, occipital cortex and frontal cortex. frontal lobe BTO:0000484 Y Y ECO:0000006 PubMed:21179162 UniProtKB BP 4/3/2013 126 3300011973 Mike P41595 3357 HTR2B Homo sapiens 9606 Comment/tissue specificity Expressed in brain. Higher levels of expression are observed in the cerebellum, occipital cortex and frontal cortex. frontal cortex UBERON:0001870 Y Y ECO:0000006 PubMed:21179162 UniProtKB BP 4/3/2013 126 3300011974 Mike P41595 3357 HTR2B Homo sapiens 9606 Comment/tissue specificity Expressed in brain. Higher levels of expression are observed in the cerebellum, occipital cortex and frontal cortex. occipital lobe BTO:0000293 Y Y ECO:0000006 PubMed:21179162 UniProtKB BP 4/3/2013 126 3300011975 Mike P41595 3357 HTR2B Homo sapiens 9606 Comment/tissue specificity Expressed in brain. Higher levels of expression are observed in the cerebellum, occipital cortex and frontal cortex. occipital lobe UBERON:0002021 Y Y ECO:0000006 PubMed:21179162 UniProtKB BP 4/3/2013 126 3300011976 Mike P41595 3357 HTR2B Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein integral component of membrane GO:0016021 SL-0039 Y Y UniProtKB BP 4/3/2013 126 3300011978 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with the highest level of expression in the liver and in aorta. aorta BTO:0000135 Y Y ECO:0000006 PubMed:9790987 UniProtKB DGA, BP 4/3/2013 126 3300011979 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with the highest level of expression in the liver and in aorta. aorta UBERON:0000947 Y Y ECO:0000006 PubMed:9790987 UniProtKB DGA, BP 4/3/2013 126 3300011980 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with the highest level of expression in the liver and in aorta. liver BTO:0000759 Y Y ECO:0000006 PubMed:9790987 UniProtKB DGA, BP 4/3/2013 126 3300011981 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with the highest level of expression in the liver and in aorta. liver UBERON:0002107 Y Y ECO:0000006 PubMed:9790987 UniProtKB DGA, BP 4/3/2013 126 3300011982 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum endoplasmic reticulum GO:0005783 SL-0095 Y Y UniProtKB DGA, BP 4/3/2013 126 3300011985 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]: A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:601813 exudative vitreoretinopathy DOID:0050535 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:15024691 PubMed:15346351 PubMed:16252235 PubMed:15981244 PubMed:16929062 PubMed:19324841 PubMed:20340138 UniProtKB DGA, BP 5/29/2013 128 3300011991 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease Osteoporosis (OSTEOP) [MIM:166710]: A systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. MIM:166710 osteoporosis DOID:11476 Disease susceptibility is associated with variations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:14727154 PubMed:15824851 PubMed:16234968 UniProtKB DGA, BP 5/29/2013 128 3300011992 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]: A disease characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:259770 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:16252235 PubMed:11719191 PubMed:16679074 PubMed:17437160 PubMed:18602879 UniProtKB DGA, BP 5/29/2013 128 3300011993 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease High bone mass trait (HBM) [MIM:601884]: Rare phenotype characterized by exceptionally dense bones. HBM individuals show otherwise a completely normal skeletal structure and no other unusual clinical findings. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:601884 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:11741193 PubMed:12015390 PubMed:15824861 UniProtKB DGA, BP 5/29/2013 128 3300011994 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease Endosteal hyperostosis, Worth type (WENHY) [MIM:144750]: An autosomal dominant sclerosing bone dysplasia clinically characterized by elongation of the mandible, increased gonial angle, flattened forehead, and the presence of a slowly enlarging osseous prominence of the hard palate (torus palatinus). Serum calcium, phosphorus and alkaline phosphatase levels are normal. Radiologically, it is characterized by early thickening of the endosteum of long bones, the skull and of the mandible. With advancing age, the trabeculae of the metaphysis become thickened. WENHY becomes clinically and radiologically evident by adolescence, does not cause deformity except in the skull and mandible, and is not associated with bone pain or fracture. Affected patients have normal height, proportion, intelligence and longevity. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:144750 Worth's syndrome DOID:0080037 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:12579474 UniProtKB DGA, BP 5/29/2013 128 3300011995 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease Osteopetrosis autosomal dominant 1 (OPTA1) [MIM:607634]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA1 is an autosomal dominant form characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:607634 osteopetrosis DOID:13533 ICD:756.52 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:12579474 UniProtKB DGA, BP 5/29/2013 128 3300011996 Mike O75197 4041 LRP5 Homo sapiens 9606 Comment/Involvement in disease Van Buchem disease 2 (VBCH2) [MIM:607636]: VBCH2 is an autosomal dominant sclerosing bone dysplasia characterized by cranial osteosclerosis, thickened calvaria and cortices of long bones, enlarged mandible and normal serum alkaline phosphatase levels. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:607636 SOST-related sclerosing bone dysplasia DOID:0080036 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:12579474 UniProtKB DGA, BP 5/29/2013 128 3300011997 Faith O75608 10434 LYPLA1 Homo sapiens 9606 EC 3.1.2.- Y Y EC number UniProtKB BP 4/3/2013 113 3300011998 Faith O75608 10434 LYPLA1 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y UniProtKB BP 4/3/2013 113 3300012000 Faith P08473 4311 MME Homo sapiens 9606 EC 3.4.24.11 Y Y EC number UniProtKB BP 4/3/2013 165 3300012002 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity Isoform 1 is ubiquitously expressed: detected in skeletal muscle and brain, also in testis, lung and kidney, and at low levels in heart, adrenal gland and retina. Not detected in the platelets. Isoform 3 is expressed only in testis. Isoform 4 is detected in testis, skeletal muscle, lung, and kidney, at low levels in the brain, but not in the heart and adrenal gland. adrenal gland BTO:0000047 Y Y UniProtKB info transferred to IVM page BP, DGA 4/3/2013 148 3300012007 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity Isoform 1 is ubiquitously expressed: detected in skeletal muscle and brain, also in testis, lung and kidney, and at low levels in heart, adrenal gland and retina. Not detected in the platelets. Isoform 3 is expressed only in testis. Isoform 4 is detected in testis, skeletal muscle, lung, and kidney, at low levels in the brain, but not in the heart and adrenal gland. adrenal gland UBERON:0002369 Y Y UniProtKB info transferred to IVM page BP, DGA 4/3/2013 148 3300012008 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity Isoform 1 is ubiquitously expressed: detected in skeletal muscle and brain, also in testis, lung and kidney, and at low levels in heart, adrenal gland and retina. Not detected in the platelets. Isoform 3 is expressed only in testis. Isoform 4 is detected in testis, skeletal muscle, lung, and kidney, at low levels in the brain, but not in the heart and adrenal gland. brain BTO:0000142 Y Y UniProtKB info transferred to IVM page BP, DGA 4/3/2013 148 3300012009 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity Isoform 1 is ubiquitously expressed: detected in skeletal muscle and brain, also in testis, lung and kidney, and at low levels in heart, adrenal gland and retina. Not detected in the platelets. Isoform 3 is expressed only in testis. Isoform 4 is detected in testis, skeletal muscle, lung, and kidney, at low levels in the brain, but not in the heart and adrenal gland. brain UBERON:0000955 Y Y UniProtKB info transferred to IVM page BP, DGA 4/3/2013 148 3300012010 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity Isoform 1 is ubiquitously expressed: detected in skeletal muscle and brain, also in testis, lung and kidney, and at low levels in heart, adrenal gland and retina. Not detected in the platelets. Isoform 3 is expressed only in testis. Isoform 4 is detected in testis, skeletal muscle, lung, and kidney, at low levels in the brain, but not in the heart and adrenal gland. heart BTO:0000562 Y Y UniProtKB info transferred to IVM page BP, DGA 4/3/2013 148 3300012011 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity Isoform 1 is ubiquitously expressed: detected in skeletal muscle and brain, also in testis, lung and kidney, and at low levels in heart, adrenal gland and retina. Not detected in the platelets. Isoform 3 is expressed only in testis. Isoform 4 is detected in testis, skeletal muscle, lung, and kidney, at low levels in the brain, but not in the heart and adrenal gland. heart UBERON:0000948 Y Y UniProtKB info transferred to IVM page BP, DGA 4/3/2013 148 3300012012 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity Isoform 1 is ubiquitously expressed: detected in skeletal muscle and brain, also in testis, lung and kidney, and at low levels in heart, adrenal gland and retina. Not detected in the platelets. Isoform 3 is expressed only in testis. Isoform 4 is detected in testis, skeletal muscle, lung, and kidney, at low levels in the brain, but not in the heart and adrenal gland. kidney BTO:0000671 Y Y UniProtKB info transferred to IVM page BP, DGA 4/3/2013 148 3300012013 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity Isoform 1 is ubiquitously expressed: detected in skeletal muscle and brain, also in testis, lung and kidney, and at low levels in heart, adrenal gland and retina. Not detected in the platelets. Isoform 3 is expressed only in testis. Isoform 4 is detected in testis, skeletal muscle, lung, and kidney, at low levels in the brain, but not in the heart and adrenal gland. kidney UBERON:0002113 Y Y UniProtKB info transferred to IVM page BP, DGA 4/3/2013 148 3300012014 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity Isoform 1 is ubiquitously expressed: detected in skeletal muscle and brain, also in testis, lung and kidney, and at low levels in heart, adrenal gland and retina. Not detected in the platelets. Isoform 3 is expressed only in testis. Isoform 4 is detected in testis, skeletal muscle, lung, and kidney, at low levels in the brain, but not in the heart and adrenal gland. lung BTO:0000763 Y Y UniProtKB info transferred to IVM page BP, DGA 4/3/2013 148 3300012015 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity Isoform 1 is ubiquitously expressed: detected in skeletal muscle and brain, also in testis, lung and kidney, and at low levels in heart, adrenal gland and retina. Not detected in the platelets. Isoform 3 is expressed only in testis. Isoform 4 is detected in testis, skeletal muscle, lung, and kidney, at low levels in the brain, but not in the heart and adrenal gland. lung UBERON:0002048 Y Y UniProtKB info transferred to IVM page BP, DGA 4/3/2013 148 3300012016 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity Isoform 1 is ubiquitously expressed: detected in skeletal muscle and brain, also in testis, lung and kidney, and at low levels in heart, adrenal gland and retina. Not detected in the platelets. Isoform 3 is expressed only in testis. Isoform 4 is detected in testis, skeletal muscle, lung, and kidney, at low levels in the brain, but not in the heart and adrenal gland. retina BTO:0001175 Y Y UniProtKB info transferred to IVM page BP, DGA 4/3/2013 148 3300012018 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity Isoform 1 is ubiquitously expressed: detected in skeletal muscle and brain, also in testis, lung and kidney, and at low levels in heart, adrenal gland and retina. Not detected in the platelets. Isoform 3 is expressed only in testis. Isoform 4 is detected in testis, skeletal muscle, lung, and kidney, at low levels in the brain, but not in the heart and adrenal gland. retina UBERON:0000966 Y Y UniProtKB info transferred to IVM page BP, DGA 4/3/2013 148 3300012019 Mike/Faith P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity Isoform 1 is ubiquitously expressed: detected in skeletal muscle and brain, also in testis, lung and kidney, and at low levels in heart, adrenal gland and retina. Not detected in the platelets. Isoform 3 is expressed only in testis. Isoform 4 is detected in testis, skeletal muscle, lung, and kidney, at low levels in the brain, but not in the heart and adrenal gland. skeletal muscle BTO:0001103 Y Y UniProtKB info transferred to IVM page BP, DGA 4/3/2013 148 3300012020 Mike/Faith P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity Isoform 1 is ubiquitously expressed: detected in skeletal muscle and brain, also in testis, lung and kidney, and at low levels in heart, adrenal gland and retina. Not detected in the platelets. Isoform 3 is expressed only in testis. Isoform 4 is detected in testis, skeletal muscle, lung, and kidney, at low levels in the brain, but not in the heart and adrenal gland. skeletal muscle tissue UBERON:0001134 Y Y UniProtKB info transferred to IVM page BP, DGA 4/3/2013 148 3300012021 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity Isoform 1 is ubiquitously expressed: detected in skeletal muscle and brain, also in testis, lung and kidney, and at low levels in heart, adrenal gland and retina. Not detected in the platelets. Isoform 3 is expressed only in testis. Isoform 4 is detected in testis, skeletal muscle, lung, and kidney, at low levels in the brain, but not in the heart and adrenal gland. testis BTO:0001363 Y Y UniProtKB info transferred to IVM page BP, DGA 4/3/2013 148 3300012022 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/tissue specificity Isoform 1 is ubiquitously expressed: detected in skeletal muscle and brain, also in testis, lung and kidney, and at low levels in heart, adrenal gland and retina. Not detected in the platelets. Isoform 3 is expressed only in testis. Isoform 4 is detected in testis, skeletal muscle, lung, and kidney, at low levels in the brain, but not in the heart and adrenal gland. testis UBERON:0000473 Y Y UniProtKB info transferred to IVM page BP, DGA 4/3/2013 148 3300012023 Mike P29475 4842 NOS1 Homo sapiens 9606 EC 1.14.13.39 Y Y EC number UniProtKB BP, DGA 4/3/2013 148 3300012024 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/function Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. In the brain and peripheral nervous system, NO displays many properties of a neurotransmitter. Probably has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such SRR. nitric oxide biosynthetic process GO:0006809 Y Y UniProtKB BP, DGA 4/3/2013 148 3300012025 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/subcellular location Sarcolemma;Peripheral membrane protein extrinsic component of membrane GO:0019898 SL-0238 Y Y UniProtKB BP, DGA 4/3/2013 148 3300012027 Mike P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity Platelets, placenta, liver and kidney. blood platelet BTO:0000132 platelet CL:0000233 Y Y ECO:0000006 PubMed:7515611 UniProtKB BP, DGA 4/3/2013 162 3300012031 Mike P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity Platelets, placenta, liver and kidney. kidney BTO:0000671 Y Y ECO:0000006 PubMed:7515611 UniProtKB BP, DGA 4/3/2013 162 3300012032 Mike P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity Platelets, placenta, liver and kidney. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:7515611 UniProtKB BP, DGA 4/3/2013 162 3300012033 Mike P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity Platelets, placenta, liver and kidney. liver BTO:0000759 Y Y ECO:0000006 PubMed:7515611 UniProtKB BP, DGA 4/3/2013 162 3300012034 Mike P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity Platelets, placenta, liver and kidney. liver UBERON:0002107 Y Y ECO:0000006 PubMed:7515611 UniProtKB BP, DGA 4/3/2013 162 3300012035 Mike P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity Platelets, placenta, liver and kidney. placenta BTO:0001078 Y Y ECO:0000006 PubMed:7515611 UniProtKB BP, DGA 4/3/2013 162 3300012036 Mike P29474 4846 NOS3 Homo sapiens 9606 Comment/tissue specificity Platelets, placenta, liver and kidney. placenta UBERON:0001987 Y Y ECO:0000006 PubMed:7515611 UniProtKB BP, DGA 4/3/2013 162 3300012037 Mike P29474 4846 NOS3 Homo sapiens 9606 EC 1.14.13.39 Y Y EC number UniProtKB BP, DGA 4/3/2013 162 3300012038 Mike P29474 4846 NOS3 Homo sapiens 9606 Comment/function Produces nitric oxide (NO) which is implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway. NO mediates vascular endothelial growth factor (VEGF)-induced angiogenesis in coronary vessels and promotes blood clotting through the activation of platelets. nitric oxide biosynthetic process GO:0006809 Y Y ECO:0000006 PubMed:17264164 UniProtKB BP, DGA 4/3/2013 162 3300012039 Mike P29474 4846 NOS3 Homo sapiens 9606 Comment/subcellular location Cytoskeleton cytoskeleton GO:0005856 SL-0090 Y Y UniProtKB BP, DGA 4/3/2013 162 3300012042 Mike P29474 4846 NOS3 Homo sapiens 9606 Comment/subcellular location Golgi apparatus Golgi apparatus GO:0005794 SL-0132 Y Y UniProtKB BP, DGA 4/3/2013 162 3300012043 Mike P29474 4846 NOS3 Homo sapiens 9606 Comment/Involvement in disease Variation in NOS3 seem to be associated with susceptibility to coronary spasm. coronary artery vasospasm DOID:11840 Y Y UniProtKB #ORIGINAL data type: Comment/polymorphism BP, DGA 4/3/2013 162 3300012046 Faith Q9Y314 51070 NOSIP Homo sapiens 9606 Comment/tissue specificity Expressed in heart, brain and lung. Present in endothelial cells (at protein level). endothelial cell BTO:0001176 endothelial cell CL:0000115 Y Y ECO:0000006 PubMed:11149895 UniProtKB BP, UPS 4/3/2013 87 3300012047 Faith Q9Y314 51070 NOSIP Homo sapiens 9606 Comment/tissue specificity Expressed in heart, brain and lung. Present in endothelial cells (at protein level). brain BTO:0000142 Y Y ECO:0000006 PubMed:11149895 UniProtKB BP, UPS 4/3/2013 87 3300012048 Faith Q9Y314 51070 NOSIP Homo sapiens 9606 Comment/tissue specificity Expressed in heart, brain and lung. Present in endothelial cells (at protein level). brain UBERON:0000955 Y Y ECO:0000006 PubMed:11149895 UniProtKB BP, UPS 4/3/2013 87 3300012049 Faith Q9Y314 51070 NOSIP Homo sapiens 9606 Comment/tissue specificity Expressed in heart, brain and lung. Present in endothelial cells (at protein level). heart BTO:0000562 Y Y ECO:0000006 PubMed:11149895 UniProtKB BP, UPS 4/3/2013 87 3300012050 Faith Q9Y314 51070 NOSIP Homo sapiens 9606 Comment/tissue specificity Expressed in heart, brain and lung. Present in endothelial cells (at protein level). heart UBERON:0000948 Y Y ECO:0000006 PubMed:11149895 UniProtKB BP, UPS 4/3/2013 87 3300012051 Faith Q9Y314 51070 NOSIP Homo sapiens 9606 Comment/tissue specificity Expressed in heart, brain and lung. Present in endothelial cells (at protein level). lung BTO:0000763 Y Y ECO:0000006 PubMed:11149895 UniProtKB BP, UPS 4/3/2013 87 3300012052 Faith Q9Y314 51070 NOSIP Homo sapiens 9606 Comment/tissue specificity Expressed in heart, brain and lung. Present in endothelial cells (at protein level). lung UBERON:0002048 Y Y ECO:0000006 PubMed:11149895 UniProtKB BP, UPS 4/3/2013 87 3300012053 Faith Q9Y314 51070 NOSIP Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y UniProtKB BP, UPS 4/3/2013 87 3300012055 Faith Q9Y314 51070 NOSIP Homo sapiens 9606 Comment/subcellular location Nucleus nucleus GO:0005634 SL-0191 Y Y UniProtKB BP, UPS 4/3/2013 87 3300012056 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level). vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y ECO:0000006 PubMed:12446846 PubMed:15847871 UniProtKB BP, DGA 4/3/2013 101 3300012058 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level). brain BTO:0000142 Y Y ECO:0000006 PubMed:12446846 PubMed:15847871 UniProtKB BP, DGA 4/3/2013 101 3300012059 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level). brain UBERON:0000955 Y Y ECO:0000006 PubMed:12446846 PubMed:15847871 UniProtKB BP, DGA 4/3/2013 101 3300012060 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level). heart BTO:0000562 Y Y ECO:0000006 PubMed:12446846 PubMed:15847871 UniProtKB BP, DGA 4/3/2013 101 3300012061 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level). heart UBERON:0000948 Y Y ECO:0000006 PubMed:12446846 PubMed:15847871 UniProtKB BP, DGA 4/3/2013 101 3300012062 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level). kidney BTO:0000671 Y Y ECO:0000006 PubMed:12446846 PubMed:15847871 UniProtKB BP, DGA 4/3/2013 101 3300012063 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level). kidney UBERON:0002113 Y Y ECO:0000006 PubMed:12446846 PubMed:15847871 UniProtKB BP, DGA 4/3/2013 101 3300012064 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level). lung BTO:0000763 Y Y ECO:0000006 PubMed:12446846 PubMed:15847871 UniProtKB BP, DGA 4/3/2013 101 3300012065 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level). lung UBERON:0002048 Y Y ECO:0000006 PubMed:12446846 PubMed:15847871 UniProtKB BP, DGA 4/3/2013 101 3300012066 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level). placenta BTO:0001078 Y Y ECO:0000006 PubMed:12446846 PubMed:15847871 UniProtKB BP, DGA 4/3/2013 101 3300012068 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level). placenta UBERON:0001987 Y Y ECO:0000006 PubMed:12446846 PubMed:15847871 UniProtKB BP, DGA 4/3/2013 101 3300012069 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level). placenta BTO:0001078 pre-eclampsia DOID:10591 Y Y ECO:0000006 PubMed:12446846 PubMed:15847871 UniProtKB over-expressed BP, DGA 4/3/2013 101 3300012070 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level). placenta UBERON:0001987 pre-eclampsia DOID:10591 Y Y ECO:0000006 PubMed:12446846 PubMed:15847871 UniProtKB over-expressed BP, DGA 4/3/2013 101 3300012071 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level). spleen BTO:0001281 Y Y ECO:0000006 PubMed:12446846 PubMed:15847871 UniProtKB BP, DGA 4/3/2013 101 3300012072 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level). spleen UBERON:0002106 Y Y ECO:0000006 PubMed:12446846 PubMed:15847871 UniProtKB BP, DGA 4/3/2013 101 3300012073 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level). thymus BTO:0001374 Y Y ECO:0000006 PubMed:12446846 PubMed:15847871 UniProtKB BP, DGA 4/3/2013 101 3300012074 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, kidney, placenta and lung, and at lowest levels in brain, thymus and spleen. Present in vascular endothelial cells and placenta. Over-expressed in placenta from women with pre-eclampsia (at protein level). thymus UBERON:0002370 Y Y ECO:0000006 PubMed:12446846 PubMed:15847871 UniProtKB BP, DGA 4/3/2013 101 3300012075 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/subcellular location Cell membrane;Peripheral membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB BP, DGA 4/3/2013 101 3300012077 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/subcellular location Cytoplasmic vesicle cytoplasmic membrane-bounded vesicle GO:0016023 SL-0088 Y Y UniProtKB BP, DGA 4/3/2013 101 3300012078 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/subcellular location Cytoskeleton cytoskeleton GO:0005856 SL-0090 Y Y UniProtKB BP, DGA 4/3/2013 101 3300012079 Mike P01160 4878 NPPA Homo sapiens 9606 Comment/function Hormone playing a key role in cardiovascular homeostasis through regulation of natriuresis, diuresis, and vasodilation. Also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3. artery morphogenesis GO:0048844 uterus UBERON:0000995 endometrial spiral artery BTO:0003371 Y Y ECO:0000006 PubMed:1672777 UniProtKB BP, DGA 4/3/2013 149 3300012081 Mike P01160 4878 NPPA Homo sapiens 9606 Comment/function Hormone playing a key role in cardiovascular homeostasis through regulation of natriuresis, diuresis, and vasodilation. Also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3. regulation of natriuresis GO:0003078 Y Y ECO:0000006 PubMed:1672777 UniProtKB BP, DGA 4/3/2013 149 3300012083 Mike P01160 4878 NPPA Homo sapiens 9606 Comment/function Hormone playing a key role in cardiovascular homeostasis through regulation of natriuresis, diuresis, and vasodilation. Also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3. regulation of diuresis GO:0003074 Y Y ECO:0000006 PubMed:1672777 UniProtKB BP, DGA 4/3/2013 149 3300012084 Mike P01160 4878 NPPA Homo sapiens 9606 Comment/function Hormone playing a key role in cardiovascular homeostasis through regulation of natriuresis, diuresis, and vasodilation. Also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3. regulation of vasodilation GO:0042312 Y Y ECO:0000006 PubMed:1672777 UniProtKB BP, DGA 4/3/2013 149 3300012085 Mike P01160 4878 NPPA Homo sapiens 9606 Comment/function Hormone playing a key role in cardiovascular homeostasis through regulation of natriuresis, diuresis, and vasodilation. Also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3. female pregnancy GO:0007565 Y Y ECO:0000006 PubMed:1672777 UniProtKB BP, DGA 4/3/2013 149 3300012086 Mike P01160 4878 NPPA Homo sapiens 9606 Comment/function Hormone playing a key role in cardiovascular homeostasis through regulation of natriuresis, diuresis, and vasodilation. Also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3. positive regulation of trophoblast cell migration GO:1901165 Y Y ECO:0000006 PubMed:1672777 UniProtKB BP, DGA 4/3/2013 149 3300012087 Mike P01160 4878 NPPA Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB BP, DGA 4/3/2013 149 3300012088 Mike P01160 4878 NPPA Homo sapiens 9606 Comment/Involvement in disease Familial atrial fibrillation 6 (ATFB6) [MIM:612201]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:612201 familial atrial fibrillation DOID:0050650 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:18614783 UniProtKB BP, DGA 5/1/2013 150 3300012089 Mike Q99571 5025 P2RX4 Homo sapiens 9606 Comment/subcellular location Membrane;Multi-pass membrane protein integral component of membrane GO:0016021 SL-0162 Y Y UniProtKB BP 4/3/2013 118 3300012092 Mike Q92824 5125 PCSK5 Homo sapiens 9606 Comment/tissue specificity Expressed in T-lymphocytes. T-lymphocyte BTO:0000782 Y Y UniProtKB BP 4/3/2013 134 3300012093 Mike Q92824 5125 PCSK5 Homo sapiens 9606 EC 3.4.21.- Y Y EC number UniProtKB BP 4/3/2013 134 3300012094 Mike Q92824 5125 PCSK5 Homo sapiens 9606 Comment/function Likely to represent a widespread endoprotease activity within the constitutive and regulated secretory pathway. Capable of cleavage at the RX(K/R)R consensus motif. Plays an essential role in pregnancy establishment by proteolytic activation of a number of important factors such as BMP2, CALD1 and alpha-integrins. female pregnancy GO:0007565 Y Y ECO:0000006 PubMed:19764806 PubMed:20555025 PubMed:22740495 UniProtKB BP 4/3/2013 134 3300012095 Mike Q01970 5331 PLCB3 Homo sapiens 9606 EC 3.1.4.11 Y Y EC number UniProtKB BP 4/3/2013 130 3300012111 Mike Q01970 5331 PLCB3 Homo sapiens 9606 Comment/subcellular location Membrane;Peripheral membrane protein extrinsic component of membrane GO:0019898 SL-0162 Y Y UniProtKB BP 4/3/2013 130 3300012113 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary. adipose tissue BTO:0001487 Y Y ECO:0000006 PubMed:9065481 UniProtKB BP, DGA 4/3/2013 184 3300012123 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary. adipose tissue UBERON:0001013 Y Y ECO:0000006 PubMed:9065481 UniProtKB BP, DGA 4/3/2013 184 3300012124 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary. heart BTO:0000562 Y Y ECO:0000006 PubMed:9065481 UniProtKB BP, DGA 4/3/2013 184 3300012125 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary. heart UBERON:0000948 Y Y ECO:0000006 PubMed:9065481 UniProtKB BP, DGA 4/3/2013 184 3300012126 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary. liver BTO:0000759 Y Y ECO:0000006 PubMed:9065481 UniProtKB BP, DGA 4/3/2013 184 3300012127 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary. liver UBERON:0002107 Y Y ECO:0000006 PubMed:9065481 UniProtKB BP, DGA 4/3/2013 184 3300012128 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary. lung BTO:0000763 Y Y ECO:0000006 PubMed:9065481 UniProtKB BP, DGA 4/3/2013 184 3300012129 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary. lung UBERON:0002048 Y Y ECO:0000006 PubMed:9065481 UniProtKB BP, DGA 4/3/2013 184 3300012130 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary. ovary BTO:0000975 Y Y ECO:0000006 PubMed:9065481 UniProtKB BP, DGA 4/3/2013 184 3300012131 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary. female gonad UBERON:0000992 Y Y ECO:0000006 PubMed:9065481 UniProtKB BP, DGA 4/3/2013 184 3300012132 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary. placenta BTO:0001078 Y Y ECO:0000006 PubMed:9065481 UniProtKB BP, DGA 4/3/2013 184 3300012133 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary. placenta UBERON:0001987 Y Y ECO:0000006 PubMed:9065481 UniProtKB BP, DGA 4/3/2013 184 3300012134 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary. skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:9065481 UniProtKB BP, DGA 4/3/2013 184 3300012135 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary. skeletal muscle tissue UBERON:0001134 Y Y ECO:0000006 PubMed:9065481 UniProtKB BP, DGA 4/3/2013 184 3300012136 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary. spleen BTO:0001281 Y Y ECO:0000006 PubMed:9065481 UniProtKB BP, DGA 4/3/2013 184 3300012137 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary. spleen UBERON:0002106 Y Y ECO:0000006 PubMed:9065481 UniProtKB BP, DGA 4/3/2013 184 3300012138 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/function Receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Once activated by a ligand, the receptor binds to a promoter element in the gene for acyl-CoA oxidase and activates its transcription. It therefore controls the peroxisomal beta-oxidation pathway of fatty acids. Key regulator of adipocyte differentiation and glucose homeostasis. Acts as a critical regulator of gut homeostasis by suppressing NF-kappa-B-mediated proinflammatory responses. fatty acid beta-oxidation GO:0006635 Y Y ECO:0000006 PubMed:9065481 PubMed:16150867 PubMed:20829347 UniProtKB BP, DGA 4/3/2013 184 3300012141 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/function Receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Once activated by a ligand, the receptor binds to a promoter element in the gene for acyl-CoA oxidase and activates its transcription. It therefore controls the peroxisomal beta-oxidation pathway of fatty acids. Key regulator of adipocyte differentiation and glucose homeostasis. Acts as a critical regulator of gut homeostasis by suppressing NF-kappa-B-mediated proinflammatory responses. regulation of fat cell differentiation GO:0045598 Y Y ECO:0000006 PubMed:9065481 PubMed:16150867 PubMed:20829347 UniProtKB BP, DGA 4/3/2013 184 3300012142 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/function Receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Once activated by a ligand, the receptor binds to a promoter element in the gene for acyl-CoA oxidase and activates its transcription. It therefore controls the peroxisomal beta-oxidation pathway of fatty acids. Key regulator of adipocyte differentiation and glucose homeostasis. Acts as a critical regulator of gut homeostasis by suppressing NF-kappa-B-mediated proinflammatory responses. negative regulation of inflammatory response GO:0050728 Y Y ECO:0000006 PubMed:9065481 PubMed:16150867 PubMed:20829347 UniProtKB BP, DGA 4/3/2013 184 3300012143 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y UniProtKB BP, DGA 4/3/2013 184 3300012145 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/subcellular location Redistributed from the nucleus to the cytosol through a MAP2K1/MEK1-dependent manner. nucleus GO:0005634 Y Y UniProtKB BP, DGA 4/3/2013 184 3300012146 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/subcellular location Redistributed from the nucleus to the cytosol through a MAP2K1/MEK1-dependent manner. cytosol GO:0005829 Y Y UniProtKB BP, DGA 4/3/2013 184 3300012147 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/miscellaneous Genetic variation in PPARG may influence body mass index (BMI) [MIM:606641]. BMI reflects the amount of fat, lean mass, and body build. MIM:606641 Y Y UniProtKB OMIM ID links to a phenotype, not a disease.#ORIGINAL data type: Comment/polymorphism BP, DGA 4/3/2013 184 3300012149 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/miscellaneous Genetic variations in PPARG influence the carotid intimal medial thickness (CIMT) [MIM:609338]. CIMT is a measure of atherosclerosis that is independently associated with traditional atherosclerotic cardiovascular disease risk factors and coronary atherosclerotic burden. 35 to 45% of the variability in multivariable-adjusted CIMT is explained by genetic factors. MIM:609338 Y Y UniProtKB OMIM ID links to a phenotype, not a disease.#ORIGINAL data type: Comment/polymorphism BP, DGA 4/3/2013 184 3300012151 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/Involvement in disease Obesity (OBESITY) [MIM:601665]: A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry. MIM:601665 obesity DOID:9970 ICD:278.00 Disease susceptibility may be associated with variations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:9753710 UniProtKB BP, DGA 5/29/2013 186 3300012153 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/Involvement in disease Familial partial lipodystrophy 3 (FPLD3) [MIM:604367]: A form of lipodystrophy characterized by marked loss of subcutaneous fat from the extremities. Facial adipose tissue may be increased, decreased or normal. Affected individuals show an increased preponderance of insulin resistance, diabetes mellitus and dyslipidemia. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:604367 familial partial lipodystrophy DOID:0050440 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:12453919 PubMed:11788685 UniProtKB BP, DGA 5/29/2013 186 3300012154 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/Involvement in disease Glioma 1 (GLM1) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry. Polymorphic PPARG alleles have been found to be significantly over-represented among a cohort of American patients with sporadic glioblastoma multiforme suggesting a possible contribution to disease susceptibility. MIM:137800 Disease susceptibility may be associated with variations affecting the gene represented in this entry. Polymorphic PPARG alleles have been found to be significantly over-represented among a cohort of American patients with sporadic glioblastoma multiforme suggesting a possible contribution to disease susceptibility. Y Y UniProtKB BP, DGA 5/29/2013 186 3300012155 Faith Q13237 5593 PRKG2 Homo sapiens 9606 Comment/tissue specificity Highly concentrated in brain, lung and intestinal mucosa. brain BTO:0000142 Y Y UniProtKB BP 4/3/2013 118 3300012157 Faith Q13237 5593 PRKG2 Homo sapiens 9606 Comment/tissue specificity Highly concentrated in brain, lung and intestinal mucosa. brain UBERON:0000955 Y Y UniProtKB BP 4/3/2013 118 3300012158 Faith Q13237 5593 PRKG2 Homo sapiens 9606 Comment/tissue specificity Highly concentrated in brain, lung and intestinal mucosa. intestinal mucosa BTO:0000642 Y Y UniProtKB BP 4/3/2013 118 3300012159 Faith Q13237 5593 PRKG2 Homo sapiens 9606 Comment/tissue specificity Highly concentrated in brain, lung and intestinal mucosa. intestinal mucosa UBERON:0001242 Y Y UniProtKB BP 4/3/2013 118 3300012160 Faith Q13237 5593 PRKG2 Homo sapiens 9606 Comment/tissue specificity Highly concentrated in brain, lung and intestinal mucosa. lung BTO:0000763 Y Y UniProtKB BP 4/3/2013 118 3300012161 Faith Q13237 5593 PRKG2 Homo sapiens 9606 Comment/tissue specificity Highly concentrated in brain, lung and intestinal mucosa. lung UBERON:0002048 Y Y UniProtKB BP 4/3/2013 118 3300012162 Faith Q13237 5593 PRKG2 Homo sapiens 9606 EC 2.7.11.12 Y Y EC number UniProtKB BP 4/3/2013 118 3300012163 Faith Q13237 5593 PRKG2 Homo sapiens 9606 Comment/subcellular location Apical cell membrane;Lipid-anchor apical plasma membrane GO:0016324 SL-0015 Y Y UniProtKB BP 4/3/2013 118 3300012164 Faith Q03393 5805 PTS Homo sapiens 9606 EC 4.2.3.12 Y Y EC number UniProtKB BP 4/3/2013 138 3300012165 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/pathway Cofactor biosynthesis; tetrahydrobiopterin biosynthesis; tetrahydrobiopterin from 7,8-dihydroneopterin triphosphate: step 1/3. cofactor biosynthetic process GO:0051188 UPA00399 Y Y UniProtKB BP 4/3/2013 138 3300012168 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/Involvement in disease Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]: An autosomal recessive disorder characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits. Neurological symptoms are unresponsive to the classic phenylalanine-low diet. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:261640 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency SNOMEDCT:237914002 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:10531334 PubMed:7698774 PubMed:8178819 PubMed:7493990 PubMed:8707300 PubMed:9222757 PubMed:9159737 PubMed:9450907 PubMed:10585341 PubMed:10220141 PubMed:10874306 PubMed:11388593 UniProtKB BP 5/1/2013 139 3300012169 Mike P00797 5972 REN Homo sapiens 9606 EC 3.4.23.15 Y Y EC number UniProtKB BP, DGA 4/3/2013 165 3300012170 Mike P00797 5972 REN Homo sapiens 9606 Comment/subcellular location Membrane membrane GO:0016020 SL-0162 Y Y UniProtKB BP, DGA 4/3/2013 165 3300012173 Mike P00797 5972 REN Homo sapiens 9606 Comment/subcellular location Associated to membranes via binding to ATP6AP2. membrane GO:0016020 Y Y UniProtKB BP, DGA 4/3/2013 165 3300012174 Mike P00797 5972 REN Homo sapiens 9606 Comment/Involvement in disease Renal tubular dysgenesis (RTD) [MIM:267430]: Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:267430 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:16116425 UniProtKB BP, DGA 5/29/2013 167 3300012175 Mike P00797 5972 REN Homo sapiens 9606 Comment/Involvement in disease Familial juvenile hyperuricemic nephropathy 2 (HNFJ2) [MIM:613092]: A renal disease characterized by juvenile onset of hyperuricemia, slowly progressive renal failure and anemia. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:613092 familial juvenile hyperuricemic nephropathy DOID:0060062 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:19664745 UniProtKB BP, DGA 5/29/2013 167 3300012176 Faith P35270 6697 SPR Homo sapiens 9606 EC 1.1.1.153 Y Y EC number UniProtKB BP 4/3/2013 137 3300012177 Faith P35270 6697 SPR Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y UniProtKB BP 4/3/2013 137 3300012179 Faith P35270 6697 SPR Homo sapiens 9606 Comment/Involvement in disease Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]: A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:612716 Sepiapterin reductase deficiency SNOMEDCT:45116002 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:11443547 PubMed:16650784 PubMed:17159114 UniProtKB BP 5/1/2013 138 3300012180 Faith O00401 8976 WASL Homo sapiens 9606 Comment/subcellular location Cytoskeleton cytoskeleton GO:0005856 SL-0090 Y Y UniProtKB BP 4/3/2013 130 3300012182 Faith O00401 8976 WASL Homo sapiens 9606 Comment/subcellular location Nucleus nucleus GO:0005634 SL-0191 Y Y UniProtKB BP 4/3/2013 130 3300012183 Katie Q8IVQ6 340481 ZDHHC21 Homo sapiens 9606 EC 2.3.1.- Y Y EC number UniProtKB BP 4/3/2013 75 3300012185 Katie Q8IVQ6 340481 ZDHHC21 Homo sapiens 9606 Comment/subcellular location Golgi apparatus Golgi apparatus GO:0005794 SL-0132 Y Y UniProtKB BP 4/3/2013 75 3300012188 curatus Q9Y314 51070 NOSIP Homo sapiens 9606 Publication Sources 18213395|I Y Y I Pubmed:18213395 UbiGRID BP, UPS 0 3300025708 curatus Q9Y314 51070 NOSIP Homo sapiens 9606 Overall_Status Inferred Y Y I UbiGRID BP, UPS 0 3300025710 curatus Q9Y314 51070 NOSIP Homo sapiens 9606 List_Status Active Y Y I UbiGRID BP, UPS 0 3300025711 curatus Q9Y314 51070 NOSIP Homo sapiens 9606 E3_TYPE SRL =====EVIDENCE required=== Y Y UbiGRID BP, UPS 0 3300025712 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB BP, DGA 9/3/2014 152 3300033804 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Widespread in normal smooth muscle tissue and neurons. smooth muscle tissue UBERON:0001135 Y Y ECO:0000269 PubMed:7835885 UniProtKB BP, DGA 9/3/2014 152 3300033805 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Widespread in normal smooth muscle tissue and neurons. smooth muscle BTO:0001260 Y Y ECO:0000269 PubMed:7835885 UniProtKB BP, DGA 9/3/2014 152 3300033806 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Widespread in normal smooth muscle tissue and neurons. neuron BTO:0000938 Y Y ECO:0000269 PubMed:7835885 UniProtKB BP, DGA 3300034583 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. carotid artery segment UBERON:0005396 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034675 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. carotid artery BTO:0000168 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034695 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. adrenal gland UBERON:0002369 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034696 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. skeletal muscle tissue UBERON:0001134 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034697 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. adrenal gland BTO:0000047 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034698 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034699 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034700 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. prostate gland UBERON:0002367 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034701 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. testis BTO:0001363 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034702 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. testis UBERON:0000473 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034703 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. uterus BTO:0001424 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034704 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. uterus UBERON:0000995 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034705 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. liver BTO:0000759 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034706 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. liver UBERON:0002107 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034707 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. lung BTO:0000763 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034708 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. lung UBERON:0002048 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034709 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. kidney BTO:0000671 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034710 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034711 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. pancreas BTO:0000988 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034712 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. pancreas UBERON:0001264 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034713 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. salivary gland BTO:0001203 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034714 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. salivary gland UBERON:0001044 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034715 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. colon BTO:0000269 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034716 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. colon UBERON:0001155 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034717 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. heart ventricle BTO:0000862 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034718 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. cardiac ventricle UBERON:0002082 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034719 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. hypothalamus BTO:0000614 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034720 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. hypothalamus UBERON:0001898 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034721 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. atrium BTO:0000903 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034722 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. cardiac atrium UBERON:0002081 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034723 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. renal proximal tubule BTO:0001498 Y Y ECO:0000006 PubMed:7835885 UniProtKB renal proximal tubular cell BP, DGA 3300034724 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. proximal tubule UBERON:0004134 Y Y ECO:0000006 PubMed:7835885 UniProtKB renal proximal tubular cell BP, DGA 3300034725 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. hypophysis BTO:0001073 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034726 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. pituitary gland UBERON:0000007 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034727 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. hippocampus BTO:0000601 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034728 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. hippocampal formation UBERON:0002421 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034729 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. cerebellum BTO:0000232 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034730 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. cerebellum UBERON:0002037 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034731 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. femoral artery BTO:0001624 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034754 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. femoral artery UBERON:0002060 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034755 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. intestine BTO:0000648 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034756 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. intestine UBERON:0000160 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034757 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. jugular vein BTO:0001744 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034758 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. jugular vein UBERON:0004711 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034759 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. bronchus BTO:0001340 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034760 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. bronchus UBERON:0002185 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034761 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. ovary BTO:0000975 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034762 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. female gonad UBERON:0000992 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034763 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. mammary gland BTO:0000817 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034764 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. mammary gland UBERON:0001911 Y Y ECO:0000006 PubMed:7835885 UniProtKB #Copied from BDKRB2, anno: 34675 #Copied from BDKRB2, anno: 34695 #Copied from BDKRB2, anno: 34757 BP, DGA 3300034765 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. stomach BTO:0001307 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034766 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. stomach UBERON:0000945 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034767 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. mesenteric artery BTO:0000779 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034768 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. mesenteric artery UBERON:0005616 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034769 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. femoral vein UBERON:0001361 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034770 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. coronary artery BTO:0000290 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034771 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. coronary artery UBERON:0001621 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034772 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. coronary vessel UBERON:0005985 Y Y ECO:0000006 PubMed:7835885 UniProtKB coronary vein BP, DGA 3300034773 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. aorta BTO:0000135 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034774 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. aorta UBERON:0000947 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034775 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. vena cava BTO:0001438 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034776 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. vena cava UBERON:0004087 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034777 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. portal vein BTO:0001792 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034778 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung, kidney, pancreas, salivary gland, colon, prostate, testis, uterus, skeletal muscle, adrenal gland, renal proximal tubular cells, pituitary gland, hippocampus, cerebellum, hypothalamus, atrium, ventricle, bronchus, ovary, mammary gland, stomach, intestine, jugular vein, femoral artery, femoral vein, coronary artery, coronary vein, mesenteric artery, vena cava, portal vein, aorta, carotide artery, vein and artery. NOT expressed in spleen, lymphocytes, polymorphic nuclear cells and mesenteric vein. portal vein UBERON:0002017 Y Y ECO:0000006 PubMed:7835885 UniProtKB BP, DGA 3300034779