Disease: Cholestasis, Progressive Familial Intrahepatic, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369860506
rs369860506
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C3489789
Disease:
Cholestasis, Progressive Familial Intrahepatic, 2 		0.700 GeneticVariation UNIPROT Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing. 24969679 2014
dbSNP: rs369860506
rs369860506
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C3489789
Disease:
Cholestasis, Progressive Familial Intrahepatic, 2 		0.700 GeneticVariation UNIPROT FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. 11815775 2002
dbSNP: rs369860506
rs369860506
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C3489789
Disease:
Cholestasis, Progressive Familial Intrahepatic, 2 		0.700 GeneticVariation UNIPROT Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. 10579978 1999
dbSNP: rs369860506
rs369860506
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C3489789
Disease:
Cholestasis, Progressive Familial Intrahepatic, 2 		0.700 GeneticVariation UNIPROT A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 9806540 1998