Annotation Detail
Information
- Associated Genes
- NOS3
- Associated Variants
-
NOS3 p.Asp298Glu (p.D298E)
(
ENST00000297494.8,
ENST00000461406.5,
ENST00000467517.1,
ENST00000484524.5 )
NOS3 c.2324+28C>A ( ENST00000297494.8, ENST00000461406.5 )
NOS3 c.2324+28C>G ( ENST00000297494.8, ENST00000461406.5 )
NOS3 c.2324+28C>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 c.2324+28C>A ( ENST00000297494.8, ENST00000461406.5 )
NOS3 c.2324+28C>G ( ENST00000297494.8, ENST00000461406.5 )
NOS3 c.2324+28C>T ( ENST00000297494.8, ENST00000461406.5 ) - Associated Disease
- Endothelial dysfunction
- Source Database
- DisGeNET
- Description
- Measures of glucose tolerance, insulin sensitivity, markers of endothelial dysfunction, forearm vasodilation, and adipokine levels were determined and associated to the frequency of two single-nucleotide polymorphisms of NOS3, i.e., Glu298Asp (rs1799983, G/T) and rs753482 (intron 18 A/C).
- Pubmed
- 18349107
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0141149773481758
- Year of publication
- 2008
Drugs