ATP8B1, ATPase phospholipid transporting 8B1, 5205

N. diseases: 70; N. variants: 38
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3549845
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3549845
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 		0.600 GeneticVariation disease 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
CUI: C3549845
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 		0.600 GeneticVariation disease UNIPROT Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy. 15657619 2005
CUI: C3549845
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 		0.600 GeneticVariation disease UNIPROT ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. 15888793 2005
CUI: C3549845
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3549845
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 		0.600 CausalMutation disease CLINVAR