Annotation Detail

Information
Associated Genes
MTHFR
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
Ischemic Cerebrovascular Accident
Source Database
DisGeNET
Description
Previous studies have shown that ischemic stroke (IS) was closely associated with the Glu298Asp polymorphism in the eNOS gene and the 677C-T (Ala→Val) polymorphism in methylenetetrahydrofolate reductase (MTHRF) gene.
Pubmed
22940147
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0154721867085773
Year of publication
2012
Drugs