Disease: Progressive intrahepatic cholestasis (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11568372
rs11568372
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C0268312
Disease:
Progressive intrahepatic cholestasis (disorder) 		C 0.700 CausalMutation CLINVAR Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. 18395098 2008
dbSNP: rs11568372
rs11568372
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C0268312
Disease:
Progressive intrahepatic cholestasis (disorder) 		C 0.700 CausalMutation CLINVAR Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases. 17855769 2007
dbSNP: rs11568372
rs11568372
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C0268312
Disease:
Progressive intrahepatic cholestasis (disorder) 		C 0.700 CausalMutation CLINVAR A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 9806540 1998
dbSNP: rs72549398
rs72549398
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C0268312
Disease:
Progressive intrahepatic cholestasis (disorder) 		0.010 GeneticVariation BEFREE The patient was found to be a compound heterozygote for the missense mutation c.3148C>T (p.Arg1050Cys) associated with benign recurrent intrahepatic cholestasis type 2 in the homozygous state and for the nonsense mutation c.3904G>T (p.Glu1302Ter) associated with progressive familial intrahepatic cholestasis type 2. 31015375 2019