Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5205
Gene Symbol: ATP8B1
ATP8B1
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		0.800 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 5205
Gene Symbol: ATP8B1
ATP8B1
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		0.800 Biomarker GENOMICS_ENGLAND A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. 9500542

1998
Entrez Id: 5205
Gene Symbol: ATP8B1
ATP8B1
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		0.800 Biomarker GENOMICS_ENGLAND