Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.460 Biomarker disease GENOMICS_ENGLAND
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.460 Biomarker disease HPO
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.460 GeneticVariation disease LHGDN ATP binding cassette transporter G5 and G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin. 14703505 2004
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.460 Biomarker disease BEFREE The aim of this work was to study the prevalence of ABCG5/G8 genetic variants in mutation-negative FH, as defects in these genes relate to intestinal hyperabsorption of cholesterol and thus ABCG5/G8 variants could explain in part the mechanism of hypercholesterolemia. 29066094 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.460 GeneticVariation disease BEFREE The frequency of CC homozygous genotype for ABCG5 1950C > G polymorphism was higher in HC patients than in controls (42% vs. 10%, p < 0.001). 19012522 2008
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.460 AlteredExpression disease BEFREE These results demonstrate that increased expression of G5 and G8 attenuates diet-induced hypercholesterolemia in Ldlr-/- mice, resulting in a significant reduction in plasma levels of cholesterol and aortic atherosclerotic lesion area. 15175362 2004
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.460 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: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.460 GeneticVariation disease LHGDN 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: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.460 GeneticVariation disease BEFREE We present a 9-year-old and a 7-year-old Chinese boy with hypercholesterolemia and xanthomas of sitosterolemia due to ABCG5 gene mutations. 30985648 2019