Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
SHMT1 p.Leu474Phe (p.L474F)
(
ENST00000316694.8,
ENST00000354098.7 )
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 ) - Associated Disease
- gastric cardia adenocarcinoma
- Source Database
- DisGeNET
- Description
- To assess the association between the C to T transition in the methylenetetrahydro folate reductase gene (MTHFR C677T) and the C to T transition in the serine hydroxymethyltransferase ( 1 )gene (SHMT ( 1 ) C1420T) and the increased risk of carcinogenesis of esophageal squamous cell carcinoma (ESCC) and gastric cardia adenocarcinoma (GCA) in a population of high incident region of Northern China.
- Pubmed
- 17206530
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2007
Drugs