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
hypertrophic cardiomyopathy
Source Database
DisGeNET
Description
Endothelial nitric oxide synthase gene polymorphism (Glu298Asp) in patients with coexistent hypertrophic cardiomyopathy and coronary spastic angina.
Pubmed
15778808
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00599158422909495
Year of publication
2005
Drugs