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 )
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 )
NOS3 c.-51-735C>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 ) - Associated Disease
- coronary artery vasospasm
- Source Database
- DisGeNET
- Description
- Three polymorphisms, Paraoxonase 1 (PON1) Q192R (C/G), endothelial nitric oxide synthase (eNOS) E298D (G/T) and eNOS T-786C have been suggested to be potentially associated with coronary artery spasm in Japanese patients.
- Pubmed
- 21287574
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.138435641214722
- Year of publication
- 2011
Drugs