Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.420 GeneticVariation disease BEFREE Effect of genetic variant (rs11887534) in ABCG8 gene in coronary artery disease and response to atorvastatin therapy. 20592455 2010
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.420 GeneticVariation disease BEFREE A female subject with each mutation was symptomatic with coronary atherosclerosis: a 5-year-old ABCG8 S107X homozygote and a 75-year-old ABCG5 exon 3 I/D homozygote; these represent the extreme ends of the spectrum of vascular involvement in sitosterolemia. 15375183 2004
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.420 Biomarker disease CTD_human Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 11099417 2000
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.420 Biomarker disease HPO