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 artery disease
Source Database
DisGeNET
Description
A missense mutation of the nitric oxide synthase (eNOS) gene (Glu298Asp) in five patients with coronary artery disease--case reports.
Pubmed
10451235
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.233686922404653
Year of publication
1999
Drugs