Annotation Detail

Information
Associated Genes
NOS3
Associated Variants
NOS3 c.-51-735C>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 c.-51-735C>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
Associated Disease
hyperhomocysteinemia
Source Database
DisGeNET
Description
Influence of endothelial nitric oxide synthase gene polymorphisms (G894T, 4a4b, T-786C) and hyperhomocysteinemia on the predisposition to acute coronary syndromes.
Pubmed
14999203
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00453856695524446
Year of publication
2004
Drugs