Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
NOS3 p.Ser226Leu (p.S226L) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 p.Ser226Leu (p.S226L) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
Associated Disease
Coronary heart disease
Source Database
DisGeNET
Description
The objective of our study is to evaluate the single locus and combined effects of three different genetic polymorphisms (methylenetetrahydrofolate reductase C677T polymorphism, plasminogen activator inhibitor 4G/5G polymorphism, and endothelial nitric oxide synthase 3-27 base pairs repeat polymorphism) on the presence and extent of coronary artery disease in patients with early-onset coronary artery disease.
Pubmed
16845248
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.23885591379414
Year of publication
2006
Drugs