Source: UNIPROT

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 GeneticVariation UNIPROT Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing. 24969679

2014
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		0.800 GeneticVariation UNIPROT FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. 11815775

2002
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		0.800 GeneticVariation UNIPROT Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. 10579978

1999
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		0.800 GeneticVariation UNIPROT A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 9806540

1998