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
- Recently, a Glu298Asp variant of the endothelial nitric oxide synthase gene (NOS3) was identified as being associated with coronary spasm and myocardial infarction, whereas it has been reported that endothelial nitric oxide synthase plays a role in HP.
- Pubmed
- 11745998
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.138435641214722
- Year of publication
- 2001
Drugs