Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.320 Biomarker disease BEFREE We also identified 18 individuals with deleterious mutations in an FH gene andABCG5orABCG8(4%,ABCG5/ABCG8-oligogenic FH). 31327807 2019
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.320 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.320 GeneticVariation disease BEFREE ABCG8 gene polymorphisms, plasma cholesterol concentrations, and risk of cardiovascular disease in familial hypercholesterolemia. 18977479 2009