Intrahepatic cholestasis

Disease Term Disease ID Gene Symbol Classification References Source
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 C3554241 ABCB11 Causal Pathogenic evidence from ClinVar - ClinVar
ABCB4 Causal Pathogenic evidence from ClinVar 10767346, 12746424, 15077010, 27604308 ClinVar
Cholestasis, progressive familial intrahepatic 1 C4551898 ABCB11 Causal Pathogenic evidence from ClinVar 21056966 ClinVar
ABCB4 Causal Pathogenic evidence from ClinVar 21056966 ClinVar
ATP8B1 Causal Pathogenic evidence from ClinVar 9500542, 9918928, 11093741, 15239083, 19731236, 19918981, 20038848, 23197899, 26879107, 27604308 ClinVar
MYO5B Causal Pathogenic evidence from ClinVar 27532546 ClinVar
Intrahepatic Cholestasis C0008372 ABCB11 Causal Pathogenic evidence from ClinVar 18049162 ClinVar
ABCB4 Causal Pathogenic evidence from ClinVar - ClinVar
ATP8B1 Causal Pathogenic evidence from ClinVar 18379143 ClinVar
SLC25A13 Causal Pathogenic evidence from ClinVar - ClinVar
TJP2 Causal Pathogenic evidence from ClinVar 24614073 ClinVar
AKR1D1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AMACR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AP1S1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23423674 -
CYP7B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EGR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18364083, 22094456 -
HSD3B7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MAF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20146260 -
MAFG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20146260 -
SC5D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TMPRSS6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Progressive familial intrahepatic cholestasis type 2 79304 ABCB11 Causal Pathogenic evidence from ClinVar - ClinVar
Progressive intrahepatic cholestasis (disorder) C0268312 ABCB11 Causal Pathogenic evidence from ClinVar 9806540, 17855769, 18395098 ClinVar
ABCB4 Causal Pathogenic evidence from ClinVar - ClinVar
ATP8B1 Causal Pathogenic evidence from ClinVar - ClinVar
NR1H4 Causal Pathogenic evidence from ClinVar 21633855, 26888176 ClinVar
Progressive familial intrahepatic cholestasis type 3 79305 ABCB4 Causal Pathogenic evidence from ClinVar - ClinVar
Progressive familial intrahepatic cholestasis type 1 79306 ATP8B1 Causal Pathogenic evidence from ClinVar - ClinVar
MYO5B Causal Pathogenic evidence from ClinVar - ClinVar
MYO5B-related progressive familial intrahepatic cholestasis 480491 MYO5B Causal Pathogenic evidence from ClinVar - ClinVar
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 C4310747 NR1H4 Causal Pathogenic evidence from ClinVar 26888176 ClinVar
Progressive familial intrahepatic cholestasis type 5 480476 NR1H4 Causal Pathogenic evidence from ClinVar - ClinVar
Neonatal intrahepatic cholestasis due to citrin deficiency 247598 SLC25A13 Causal Pathogenic evidence from ClinVar - ClinVar
Progressive familial intrahepatic cholestasis type 4 480483 TJP2 Causal Pathogenic evidence from ClinVar - ClinVar