Polycystic kidney disease

Disease Term Disease ID Gene Symbol Classification References Source
ALG9-ASSOCIATED AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
MONDO:0700000
ALG9 Causal
31395617 37761895
GWAS catalog
AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
730MONDO:0004691
DNAJB11 Causal
29706351 32631624 37332102
ClinGen GWAS catalog Orphanet
GANAB Causal
27259053
GWAS catalog Orphanet
IFT140 Causal
34890546
ClinGen GenCC Orphanet
PKD1 Causal
11012875 11106764 11891195 15496422 18640754 20301424 22508176 23064367 8004675 8792818 8981910 9192675
ClinGen Disgenet Orphanet
PKD2 Causal
10411676 10770959 11891195 16135816 20301424 23985799 26435415 29529603 8650545 9192675 9326320 9568711 9573526
ClinGen GWAS catalog Orphanet
ALG5 Unknown
35896117
ClinGen GWAS catalog Orphanet
ALG8 Unknown
28862642 32457805 36574950 39899384
ClinGen GWAS catalog
ALG9 Unknown
31395617
GenCC Orphanet
BICC1 Unknown
21922595
Orphanet
NEK8 Unknown
18235101 23418306 37598857
ClinGen GWAS catalog Orphanet
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE
C0085548MONDO:0009889731
CYS1 Causal — Disgenet
DYNC2H1 Causal — Disgenet
PKD1 Causal
11106764 11891195 19165178 20558538 23064367 23624871 26139440 30631912 31427367 33168999 8981910 9326937
ClinGen Disgenet GWAS catalog
PKD2 Causal — Disgenet
PKHD1 Causal
20301501
ClinGen Disgenet GenCC Orphanet
AQP1 Unknown — Disgenet
CFTR Unknown — Disgenet
DZIP1L Unknown
28530676 35211789
ClinGen Disgenet Orphanet
EGFR Unknown — Disgenet
IFT88 Unknown — Disgenet
NPHP3 Unknown — Disgenet
SLC4A2 Unknown — Disgenet
SRC Unknown — Disgenet
POLYCYSTIC KIDNEY DISEASE
MONDO:0020642
CFAP47 Unknown
39698362
ClinGen GWAS catalog
CYS1 Unknown
11854326 12239239 24349431 34521872 6624875
CTD ClinGen
POLYCYSTIC KIDNEY DISEASE 1
C3149841MONDO:0008263
ALG9 Unknown — Disgenet
PKD1 Unknown — Disgenet GenCC
PKD2 Unknown — Disgenet
SLC7A9 Unknown — Disgenet
TSC2 Unknown — Disgenet
POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
173900
PKD1 Unknown — HPO
POLYCYSTIC KIDNEY DISEASE 2
MONDO:0013131
PKD2 Causal — ClinVar GenCC
POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
613095
PKD2 Unknown — HPO
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
600666C3887964MONDO:0010916
GANAB Causal
27259053 28375157 29243290
ClinGen ClinVar Disgenet GWAS catalog HPO
PKD1 Causal — Disgenet
POLYCYSTIC KIDNEY DISEASE 4
C4540575MONDO:0033004
PKHD1 Causal
11919560 19021639 12506140
ClinVar Disgenet GWAS catalog
SHOC2 Causal — Disgenet
POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
263200
PKHD1 Unknown — HPO
POLYCYSTIC KIDNEY DISEASE 5
617610C4539903MONDO:0033281
DZIP1L Causal
249264 28530676
ClinVar Disgenet GWAS catalog HPO
POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
618061C4748044MONDO:0054842
DNAJB11 Causal — ClinVar Disgenet GenCC HPO
POLYCYSTIC KIDNEY DISEASE 7
620056C5774222MONDO:0031062
ALG5 Causal
35896117
CTD ClinVar Disgenet HPO
POLYCYSTIC KIDNEY DISEASE 8
620903C5935640MONDO:0971178
NEK8 Causal — ClinVar Disgenet GenCC HPO
POLYCYSTIC KIDNEY DISEASE 9, SUSCEPTIBILITY TO
MONDO:0976267
IFT140 Causal — ClinVar
POLYCYSTIC KIDNEY DISEASE, ADULT TYPE
PKD1 Causal — ClinVar
POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA
C1849762MESH:C564881
ALG9 Unknown — CTD Disgenet
POLYCYSTIC KIDNEY DISEASE, TYPE 2
C2751306
PKD1 Unknown — Disgenet
PKD2 Unknown — Disgenet
POLYCYSTIC KIDNEY DISEASES
C0022680
ANKS6 Unknown — Disgenet
ANO5 Unknown — Disgenet