Source: ORPHANET

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 GermlineCausalMutation ORPHANET Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11. 15791618

2005
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		0.800 GermlineCausalMutation ORPHANET A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 9806540

1998