Annotation Detail

Information
Associated Genes
NOS3
Associated Variants
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
Associated Disease
Coronary Arteriosclerosis
Source Database
DisGeNET
Description
The T allele of the missense Glu(298)Asp endothelial nitric oxide synthase gene polymorphism is associated with coronary heart disease in younger individuals with high atherosclerotic risk profile.
Pubmed
11755935
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.092335315120566
Year of publication
2002
Drugs