Polycystic kidney disease

Disease Term Disease ID Gene Symbol Classification References Source
Polycystic Kidney Diseases C0022680 ALG9 Causal Pathogenic evidence from ClinVar 25966638 ClinVar
DYNC2H1 Causal Pathogenic evidence from ClinVar - ClinVar
DZIP1L Causal Pathogenic evidence from ClinVar - ClinVar
GANAB Causal Pathogenic evidence from ClinVar - ClinVar
NPHP3 Causal Pathogenic evidence from ClinVar - ClinVar
PKD1 Causal Pathogenic evidence from ClinVar 8004675, 8792818, 8981910, 9192675, 11012875, 11106764, 11891195, 15496422, 17932118, 18640754, 22508176, 23064367, 25877301, 28887310 ClinVar
PKD2 Causal Pathogenic evidence from ClinVar 8650545, 9192675, 9326320, 9568711, 9573526, 10411676, 10770959, 11891195, 16135816, 23985799, 26435415, 29529603 ClinVar
PKHD1 Causal Pathogenic evidence from ClinVar - ClinVar
PRKCSH Causal Pathogenic evidence from ClinVar 21685914 ClinVar
SEC63 Causal Pathogenic evidence from ClinVar 21685914 ClinVar
ANKS6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ANO5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARVCF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BBS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BBS10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CC2D2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CDC73 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Polycystic Kidney, Autosomal Dominant C0085413 ALG9 Causal Pathogenic evidence from ClinVar 31395617 ClinVar
GANAB Causal Pathogenic evidence from ClinVar 27259053 ClinVar
PKD1 Causal Pathogenic evidence from ClinVar 7581371, 8004675, 8792818, 8981910, 9192675, 11012875, 11106764, 11891195, 12089381, 15496422, 18640754, 19401297, 22508176, 23064367, 25877301, 28887310 ClinVar
PKD2 Causal Pathogenic evidence from ClinVar 8650545, 9192675, 9326320, 9568711, 9573526, 10411676, 10541293, 10760080, 10770959, 11007674, 11891195, 11968093, 12089381, 12707387, 15001556, 15192819, 15772804, 16135816, 16540757, 17100995, 17582161, 18635443, 18837007, 22383692, 22508176, 22863349, 23300259, 23431072, 23985799, 24374109, 24719335, 25333066, 25574838, 25877301, 26435415, 27499327, 27782177, 28356211, 28887310, 29529603, 30883612 ClinVar
ANKS6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12089381 -
BICC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21922595 -
BRD4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25877301 -
Autosomal recessive polycystic kidney disease 731 DZIP1L Causal Pathogenic evidence from ClinVar - ClinVar
PKHD1 Causal Pathogenic evidence from ClinVar - ClinVar
Autosomal Recessive Polycystic Kidney Disease C0085548 DZIP1L Causal Pathogenic evidence from ClinVar 28530676 ClinVar
NPHP3 Causal Pathogenic evidence from ClinVar 12089381 ClinVar
PKD1 Causal Pathogenic evidence from ClinVar 10729710, 11115377, 17574468, 17582161, 21551026, 22031115, 22508176, 24374109, 25333066, 26453610, 26632257 ClinVar
PKD2 Causal Pathogenic evidence from ClinVar - ClinVar
PKHD1 Causal Pathogenic evidence from ClinVar 1189128, 11337358, 11898128, 11919560, 12506140, 12846734, 12874454, 12925574, 14741187, 14971004, 15108277, 15108281, 15696446, 15698423, 15706593, 15805161, 16133180, 16199545, 16523049, 16632497, 16677362, 18503009, 18988797, 19021639, 19524688, 19914852, 19940839, 19940939, 20413436, 21274727, 21685914, 21945273, 22034641, 23389334, 23582048, 24162162, 24710345, 24984783, 25114813, 25124979, 25193386, 25525159, 25701400, 25966130, 26385851, 26673778, 26695994, 26721323, 27225849, 27491411, 27577217, 27752906, 28170084, 28851938, 29643536, 29956005 ClinVar
AQP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18988797 -
POLYCYSTIC KIDNEY DISEASE 5 C4539903 DZIP1L Causal Pathogenic evidence from ClinVar 28530676 ClinVar
Autosomal dominant polycystic kidney disease 730 GANAB Causal Pathogenic evidence from ClinVar - ClinVar
PKD1 Causal Pathogenic evidence from ClinVar - ClinVar
PKD2 Causal Pathogenic evidence from ClinVar - ClinVar
BICC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Polycystic kidney disease, type 2 C2751306 GANAB Causal Pathogenic evidence from ClinVar - ClinVar
PKD1 Causal Pathogenic evidence from ClinVar 7581371, 8004675, 12089381, 19401297, 25877301, 28887310 ClinVar
PKD2 Causal Pathogenic evidence from ClinVar 9326320, 10411676, 10541293, 10835625, 11854751, 11968093, 12089381, 12707387, 14993477, 15001556, 15772804, 18635443, 21115670, 22114106, 23431072, 24719335, 25877301, 27071085, 27214281, 28887310, 29321346, 29899465, 30883612 ClinVar
ANKS6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12089381 -
BRD4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25877301 -
Polycystic Kidney, Type 1 Autosomal Dominant Disease C0887850 GANAB Causal Pathogenic evidence from ClinVar - ClinVar
PKD1 Causal Pathogenic evidence from ClinVar 7581371, 8004675, 12089381, 19401297, 25877301, 28887310 ClinVar
PKD2 Causal Pathogenic evidence from ClinVar 12089381, 15001556, 24719335, 25877301, 28887310, 30883612 ClinVar
PRKCSH Causal Pathogenic evidence from ClinVar 12577059 ClinVar
SEC63 Causal Pathogenic evidence from ClinVar - ClinVar
ANKS6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12089381 -
BRD4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25877301 -
POLYCYSTIC KIDNEY DISEASE 1 C3149841 PKD1 Causal Pathogenic evidence from ClinVar 8004675, 8554072, 8792818, 9199561, 9211343, 9259200, 9285784, 9521593, 9921908, 10200984, 10364515, 10577909, 10647901, 10729710, 10854095, 10923040, 10987650, 11012875, 11058904, 11115377, 11216660, 11316854, 11558899, 11571556, 11691639, 11773467, 11857740, 11967008, 12007219, 12070253, 12220456, 12482949, 12842373, 15496422, 15772804, 18640754, 18837007, 19165178, 20558538, 21115670, 22034641, 22508176, 23064367, 23624871, 26139440, 26938784 ClinVar