Annotation Detail

Information
Associated Genes
NOS3
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
Homocysteinemia
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
0.00217153497664243
Year of publication
2011
Drugs