Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		0.800 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		0.800 Biomarker GENOMICS_ENGLAND A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 9806540

1998
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		0.800 Biomarker GENOMICS_ENGLAND