rs72552778, ABCB4

N. diseases: 5
Disease: Cholecystitis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cholecystitis
CUI: C0008325
Disease: Cholecystitis
0.700 CausalMutation CLINVAR Heterozygous ABCB4 mutations in children with cholestatic liver disease. 26153658 2016
Cholecystitis
CUI: C0008325
Disease: Cholecystitis
0.700 CausalMutation CLINVAR Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis? 26699824 2016
Cholecystitis
CUI: C0008325
Disease: Cholecystitis
0.700 CausalMutation CLINVAR Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4. 24806754 2014
Cholecystitis
CUI: C0008325
Disease: Cholecystitis
0.700 CausalMutation CLINVAR Functional Characterization of ABCB4 Mutations Found in Low Phospholipid-Associated Cholelithiasis (LPAC). 24381502 2013
Cholecystitis
CUI: C0008325
Disease: Cholecystitis
0.700 CausalMutation CLINVAR Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. 21119540 2011
Cholecystitis
CUI: C0008325
Disease: Cholecystitis
0.700 CausalMutation CLINVAR Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). 17726488 2007
Cholecystitis
CUI: C0008325
Disease: Cholecystitis
0.700 CausalMutation CLINVAR Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy. 16890614 2006
Cholecystitis
CUI: C0008325
Disease: Cholecystitis
0.700 CausalMutation CLINVAR Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. 15077010 2004
Cholecystitis
CUI: C0008325
Disease: Cholecystitis
0.700 CausalMutation CLINVAR ABCB4 gene mutation-associated cholelithiasis in adults. 12891548 2003
Cholecystitis
CUI: C0008325
Disease: Cholecystitis
0.700 CausalMutation CLINVAR MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. 11313316 2001