ATP8B1, ATPase phospholipid transporting 8B1, 5205

N. diseases: 70; N. variants: 38
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs56355310
rs56355310
Entrez Id: 5205
Gene Symbol: ATP8B1
ATP8B1
CUI: C3549845
Disease:
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 		0.700 GeneticVariation UNIPROT Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. 19731236 2009
dbSNP: rs56355310
rs56355310
Entrez Id: 5205
Gene Symbol: ATP8B1
ATP8B1
CUI: C3549845
Disease:
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 		0.700 GeneticVariation UNIPROT ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. 15888793 2005
dbSNP: rs56355310
rs56355310
Entrez Id: 5205
Gene Symbol: ATP8B1
ATP8B1
CUI: C3549845
Disease:
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 		0.700 GeneticVariation UNIPROT Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy. 15657619 2005