Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.350 AlteredExpression disease BEFREE It is caused by mutations in genes encoding ATP-binding cassette, subfamily G5 (ABCG5) or G8 (ABCG8), and clinical features include elevated plant sterol levels, xanthomas, and accelerated atherosclerosis. 24423340 2014
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.350 GeneticVariation disease BEFREE In conclusion, ABCG5/G8 genetic variants modulate HDL-C concentrations, leading to an HDL-C-lowering effect and thereby a potential increased risk for atherosclerosis only in smokers. 19005228 2009
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.350 AlteredExpression disease BEFREE To determine whether increased expression of G5 and G8 can ameliorate hypercholesterolemia in mice lacking LDL receptors (LDLRs), we examined the effects of G5G8 transgene expression on cholesterol metabolism and atherosclerosis in Ldlr-/- mice. 15175362 2004
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.350 Biomarker disease BEFREE To determine the specific contribution of liver ABCG5/G8 to sterol transport and atherosclerosis, we generated transgenic mice that overexpress human ABCG5 and ABCG8 in the liver but not intestine (liver G5/G8-Tg) in three different genetic backgrounds: C57Bl/6, apoE-KO, and low density lipoprotein receptor (LDLr)-KO. 15044450 2004
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.350 Biomarker disease CTD_human Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. 11138003 2001
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.350 Biomarker disease BEFREE These data suggest that ABCG5 and ABCG8 normally cooperate to limit intestinal absorption and to promote biliary excretion of sterols, and that mutated forms of these transporters predispose to sterol accumulation and atherosclerosis. 11099417 2000