Disease: Cholestasis, progressive familial intrahepatic 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72552781
rs72552781
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C1865643
Disease:
Cholestasis, progressive familial intrahepatic 3 		0.700 GeneticVariation UNIPROT Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770). 28012258 2017
dbSNP: rs72552781
rs72552781
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C1865643
Disease:
Cholestasis, progressive familial intrahepatic 3 		0.700 GeneticVariation UNIPROT Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity. 24594635 2015
dbSNP: rs72552781
rs72552781
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C1865643
Disease:
Cholestasis, progressive familial intrahepatic 3 		0.700 GeneticVariation UNIPROT Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4. 24806754 2014
dbSNP: rs72552781
rs72552781
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C1865643
Disease:
Cholestasis, progressive familial intrahepatic 3 		0.700 GeneticVariation UNIPROT Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction. 24045840 2014
dbSNP: rs72552781
rs72552781
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C1865643
Disease:
Cholestasis, progressive familial intrahepatic 3 		0.700 GeneticVariation UNIPROT Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. 21119540 2011
dbSNP: rs72552781
rs72552781
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C1865643
Disease:
Cholestasis, progressive familial intrahepatic 3 		0.700 GeneticVariation UNIPROT Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). 17726488 2007
dbSNP: rs72552781
rs72552781
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C1865643
Disease:
Cholestasis, progressive familial intrahepatic 3 		0.700 GeneticVariation UNIPROT A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis. 12671900 2003
dbSNP: rs72552781
rs72552781
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C1865643
Disease:
Cholestasis, progressive familial intrahepatic 3 		0.700 GeneticVariation UNIPROT The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. 11313315 2001
dbSNP: rs72552781
rs72552781
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C1865643
Disease:
Cholestasis, progressive familial intrahepatic 3 		0.700 GeneticVariation UNIPROT Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. 9419367 1998