Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
NOS3 p.Ser226Leu (p.S226L)
(
ENST00000297494.8,
ENST00000461406.5,
ENST00000467517.1,
ENST00000484524.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 p.Ser226Leu (p.S226L) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 ) - Associated Disease
- hyperhomocysteinemia
- Source Database
- DisGeNET
- Description
- These data suggest that both MTHFR C677T and eNOS G894T variants should be regarded as genetic risk factors for hyperhomocysteinemia in patients with cognitive decline.
- Pubmed
- 21607713
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.337316501920493
- Year of publication
- 2011
Drugs