Disease Term Disease ID Gene Symbol References
Autosomal Recessive Polycystic Kidney Disease C0085548, 731 AQP1 18988797
CFTR 18988797
EGFR 9486961
PKD1 22031115, 26453610, 21551026, 22508176, 17574468, 10729710, 25333066, 24374109, 17582161, 26632257, 11115377
PKD2
PKHD1 27752906, 12874454, 26673778, 27577217, 26385851, 16133180, 16632497, 15696446, 16523049, 15108281, 25966130, 15698423, 24162162, 29643536, 29956005, 28851938, 19914852, 25701400, 25525159, 22034641, 23389334, 15805161, 11337358, 11898128, 21685914, 21274727, 15108277, 11919560, 12506140, 25124979, 23582048, 26695994, 15706593, 24984783, 16199545, 12846734, 16677362, 19021639, 27491411, 25114813, 19940839, 26721323, 27225849, 20413436, 12925574, 28170084, 18503009, 21945273, 14741187, 14971004, 18988797, 24710345, 25193386, 19524688, 1189128, 19940939
SLC4A2 18988797
SRC 18385429
IFT88 8608416, 8191288
NPHP3 12089381
DZIP1L 28530676
MIR1225
Polycystic Kidney Diseases C0022680 ARVCF
BBS1
COMT
CPT2
ETFA
ETFB
ETFDH
EYA1
GATA3
GP1BB
NEK1
PEX12
PKD1 11891195, 18640754, 8792818, 11106764, 22508176, 11012875, 17932118, 8004675, 23064367, 8981910, 28887310, 9192675, 25877301, 15496422
PKD2 26435415, 11891195, 9326320, 9568711, 9573526, 10411676, 23985799, 9192675, 10770959, 29529603, 8650545, 16135816
PKHD1
PMM2 28373276
PRKCSH 21685914
PEX5
RREB1
SIX1
SKIV2L
TBX1
HIRA
UFD1
VHL
MKKS
OFD1
TRIP11
SEC24C
TTC37
KIAA0586
SEC63 21685914
ZNF423
GANAB
NPHP3
TMEM138
DNAJB11 29706351
MKS1
HDAC8
WDR35
CC2D2A
MARK4
CDC73
TMEM231
DYNC2H1
BBS10
TXNDC15
ALG9 25966638
CEP290
TMEM107
EXOC3L2
IFT43
ESCO2
GLIS3
DZIP1L
ANKS6
ANO5
JMJD1C
ZDHHC24
NPHP3-ACAD11
Polycystic Kidney, Autosomal Dominant C0085413 MYC 25877301
PKD1 8792818, 18640754, 11891195, 22508176, 25877301, 12089381, 8004675, 23064367, 9192675, 7581371, 11012875, 15496422, 11106764, 19401297, 28887310, 8981910
PKD2 25574838, 18635443, 12089381, 10411676, 24374109, 23300259, 24719335, 25877301, 28356211, 9326320, 30883612, 18837007, 10760080, 23985799, 22383692, 8650545, 25333066, 10770959, 22508176, 17582161, 15192819, 27782177, 22863349, 10541293, 16135816, 26435415, 27499327, 29529603, 15772804, 9192675, 17100995, 23431072, 9568711, 15001556, 28887310, 12707387, 11891195, 11968093, 11007674, 16540757, 9573526
PPARG 20210794
GANAB 27259053
BRD4 25877301
ALG9 31395617
BICC1 21922595
ANKS6 12089381
Polycystic Kidney, Type 1 Autosomal Dominant Disease C0887850 MYC 25877301
PKD1 8004675, 19401297, 28887310, 7581371, 12089381, 25877301
PKD2 28887310, 25877301, 15001556, 12089381, 24719335, 30883612
PPARG 20210794
PRKCSH 12577059
SEC63
GANAB
BRD4 25877301
ANKS6 12089381
Polycystic kidney disease, type 2 C2751306 MYC 25877301
PKD1 28887310, 12089381, 7581371, 8004675, 19401297, 25877301
PKD2 10835625, 25877301, 18635443, 27071085, 10541293, 22114106, 24719335, 9326320, 11968093, 29321346, 15772804, 27214281, 12089381, 21115670, 29899465, 11854751, 23431072, 30883612, 10411676, 15001556, 14993477, 12707387, 28887310
PPARG 20210794
GANAB
BRD4 25877301
ANKS6 12089381
POLYCYSTIC KIDNEY DISEASE 1 C3149841 PKD1 26139440, 10854095, 11012875, 22508176, 9259200, 11967008, 12482949, 23064367, 11773467, 23624871, 12007219, 20558538, 15772804, 11857740, 12070253, 18640754, 11058904, 11216660, 11115377, 8554072, 8004675, 11571556, 10987650, 11316854, 11558899, 10923040, 10647901, 12842373, 15496422, 22034641, 9921908, 9521593, 21115670, 9211343, 9199561, 8792818, 12220456, 10577909, 18837007, 26938784, 10200984, 19165178, 10729710, 11691639, 9285784, 10364515
POLYCYSTIC KIDNEY DISEASE 5 C4539903 DZIP1L 28530676
Autosomal dominant polycystic kidney disease 730 GANAB
PKD1
PKD2
BICC1