Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.020 GeneticVariation BEFREE D374Y gain-of-function mutations in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene cause severe autosomal dominant hypercholesterolemia and accelerates atherosclerosis in humans. 23283366 2013
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.020 GeneticVariation BEFREE To produce transgenic mice expressing the D374Y variant of the human proprotein convertase subtilisin/kexin type 9 (PCSK9) gene at physiological levels to investigate the mechanisms causing hypercholesterolemia and accelerated atherosclerosis. 20448210 2010