Annotation Detail
Information
- Associated Genes
- SLC19A1
- Associated Variants
-
SLC19A1 MUTATION
SLC19A1 MUTATION
FOLH1 p.Arg536Trp (p.R536W) ( ENST00000533034.1, ENST00000256999.7, ENST00000356696.7, ENST00000340334.11 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 )
FOLH1 p.Arg536Trp (p.R536W) ( ENST00000256999.7, ENST00000340334.11, ENST00000356696.7, ENST00000533034.1 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 ) - Associated Disease
- coronary artery disease
- Source Database
- DisGeNET
- Description
- In view of growing body of evidence favouring the association of aberrations in one-carbon metabolism and oxidative stress in the aetiology of coronary artery disease (CAD), we investigated the risk associated with polymorphisms regulating the folate uptake and transport such as the glutamate carboxypeptidase II (GCPII) C1561T, reduced folate carrier 1 (RFC1) G80A and cytosolic serine hydroxymethyltransferase (cSHMT) C1420T.
- Pubmed
- 22147344
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00263847385068233
- Year of publication
- 2014
Drugs