rs2287622, ABCB11

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cholangiocarcinoma
CUI: C0206698
Disease: Cholangiocarcinoma
0.010 GeneticVariation BEFREE There was a trend towards significant association of V444A with CC. 21691113 2011
Cirrhosis
CUI: C1623038
Disease: Cirrhosis
0.020 GeneticVariation BEFREE Therefore, 511 alcoholic patients (131 with cirrhosis and 380 without cirrhosis) underwent ABCB11 genotyping (rs2287622). 22522591 2012
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.020 GeneticVariation BEFREE Therefore, 511 alcoholic patients (131 with cirrhosis and 380 without cirrhosis) underwent ABCB11 genotyping (rs2287622). 22522591 2012
Pseudohyperkalemia Cardiff
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
0.010 GeneticVariation BEFREE We aimed to investigate the potential role of plasma bile acid levels and ABCB11 1331T > C (V444A, rs2287622) (ATP-binding cassette subfamily B, member 11) gene polymorphism in fibrosis prediction in CHC genotype 4 patients. 29755014 2018
Chronic hepatitis C genotype 4
CUI: C4049431
Disease: Chronic hepatitis C genotype 4
0.010 GeneticVariation BEFREE We concluded that Egyptian patients having chronic hepatitis C genotype 4 with CC genotype of ABCB11 SNP 1331T > C and high plasma bile acid levels at cutoff value of 75.5 μmol/L were associated with advanced hepatic fibrosis. 29755014 2018