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 vasospasm
Source Database
DisGeNET
Description
A missense Glu298Asp variant in the endothelial nitric oxide synthase gene is associated with coronary spasm in the Japanese.
Pubmed
9737779
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.138435641214722
Year of publication
1998
Drugs