rs72552778
×
Entrez Id:
5244
Gene Symbol:
ABCB4
ABCB4
Cholecystitis
A
0.700
CausalMutation
CLINVAR
Heterozygous ABCB4 mutations in children with cholestatic liver disease.
26153658
2016
rs72552778
×
Entrez Id:
5244
Gene Symbol:
ABCB4
ABCB4
Cholecystitis
A
0.700
CausalMutation
CLINVAR
Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis?
26699824
2016
rs72552778
×
Entrez Id:
5244
Gene Symbol:
ABCB4
ABCB4
Cholecystitis
A
0.700
CausalMutation
CLINVAR
Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4.
24806754
2014
rs72552778
×
Entrez Id:
5244
Gene Symbol:
ABCB4
ABCB4
Cholecystitis
A
0.700
CausalMutation
CLINVAR
Functional Characterization of ABCB4 Mutations Found in Low Phospholipid-Associated Cholelithiasis (LPAC).
24381502
2013
rs72552778
×
Entrez Id:
5244
Gene Symbol:
ABCB4
ABCB4
Cholecystitis
A
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
rs72552778
×
Entrez Id:
5244
Gene Symbol:
ABCB4
ABCB4
Cholecystitis
A
0.700
CausalMutation
CLINVAR
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).
17726488
2007
rs72552778
×
Entrez Id:
5244
Gene Symbol:
ABCB4
ABCB4
Cholecystitis
A
0.700
CausalMutation
CLINVAR
Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy.
16890614
2006
rs72552778
×
Entrez Id:
5244
Gene Symbol:
ABCB4
ABCB4
Cholecystitis
A
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
rs72552778
×
Entrez Id:
5244
Gene Symbol:
ABCB4
ABCB4
Cholecystitis
A
0.700
CausalMutation
CLINVAR
ABCB4 gene mutation-associated cholelithiasis in adults.
12891548
2003
rs72552778
×
Entrez Id:
5244
Gene Symbol:
ABCB4
ABCB4
Cholecystitis
A
0.700
CausalMutation
CLINVAR
MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.
11313316
2001