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
myocardial infarction
Source Database
DisGeNET
Description
An endothelial nitric oxide synthase gene (NOS3) polymorphism in exon 7 (G894T), resulting in Glu298Asp substitution at protein level, has been associated with myocardial infarction, hypertension and coronary atherosclerosis in some populations.
Pubmed
12113283
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.284369862088329
Year of publication
2002
Drugs