Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.100 AlteredExpression disease BEFREE Our study demonstrated TMAO could be associated with increased hepatic Abcg5/g8 expression, biliary cholesterol hypersecretion and gallstone formation. 31251986 2019
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.100 AlteredExpression disease BEFREE In PS bile acid concentration correlated with gallstone plant sterols (R = 0.83, P < 0.0001), and ABCG5 expression with ABCB11 expression (R = 0.27, P = 0.03). 31169656 2019
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.100 AlteredExpression disease BEFREE The inhibition of ceramide biosynthesis by myriocin suppressed gallstone formation and ABCG5/8 mRNA expression. 28268212 2017
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.100 GeneticVariation disease BEFREE We aimed to investigate the prevalence of CL in Caucasian adult patients with GD1 and the possible risk factors, including gene variants of the ABCG5/ABCG8 genes. 27981300 2016
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.100 Biomarker disease BEFREE The ABCG5/8 cholesterol transporter and myocardial infarction versus gallstone disease. 24657701 2014
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.100 GeneticVariation disease BEFREE Polymorphic variations in STSL have been linked to lipid levels and gallstone disease in whites. 24811295 2014
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.100 AlteredExpression disease BEFREE Hepatic mRNA expression of ABCG5/G8 genes in 182 patients with gallstone disease and 35 gallstone-free patients who underwent cholecystectomy were determined using real-time PCR. 24498041 2014
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.100 GeneticVariation disease BEFREE Recurrence of gallstones after cholecystectomy is associated with ABCG5/8 genotype. 22869156 2013
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.100 GeneticVariation disease BEFREE ABCG5 rs6756629 is in strong linkage disequilibrium with rs11887534 (D19H), a variant previously associated with gallstone disease risk in populations of European-descent. 24256507 2013
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.100 GeneticVariation disease BEFREE Recently, variants of the hepatocanalicular cholesterol hemitransporters ABCG5/8 were linked to gallstone disease; ABCG8 D19H in Caucasians and ABCG5 Q604E in Chinese. 20497293 2010
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.100 GeneticVariation disease BEFREE Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones. 18522623 2008
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.100 GeneticVariation disease BEFREE Carriers of ABCG5 604Q or ABCG8 D19H polymorphisms have an increased risk of gallstone disease independent of age, sex and body mass index. 18457353 2008
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.100 GeneticVariation disease BEFREE To investigate a possible association between transporter gene polymorphism and gallstone formation, we examined five common polymorphisms in the ABCG5 (Q604E) and ABCG8 (D19H, Y54C, T400K, A632V) genes in patients with gallstone disease (GS). 17612515 2007
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.100 GeneticVariation disease BEFREE The linkage and association studies identified the cholesterol transporter ABCG5/G8 as a genetic determinant of gallstone formation, or LITH gene, in humans. 17626266 2007