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
Cerebrovascular accident
Source Database
DisGeNET
Description
We examined the association between different polymorphisms frequently found in young patients with cryptogenic stroke [methylenetetrahydrofolate reductase (MTHFR) C677T, factor II (prothrombin) G20210A, factor V G1691A (Leiden), nitric oxide synthase 3 (NOS3) intron 4 VNTR, and apolipoprotein E (APOE) epsilon4 gene] in patients with a cerebral infarct caused by spontaneous cervical artery dissection.
Pubmed
20446941
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.257121971396833
Year of publication
2010
Drugs