Annotation Detail
Information
- Associated Genes
- CBS
- Associated Variants
-
MTR p.Asp919Gly (p.D919G)
(
ENST00000366577.10,
ENST00000535889.6,
ENST00000681177.1,
ENST00000681102.1,
ENST00000679842.1,
ENST00000674797.2 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000681177.1 ) - Associated Disease
- hyperhomocysteinemia
- Source Database
- DisGeNET
- Description
- Mutations in methylenetetrahydrofolate reductase (C667T), cystathionine beta-synthase (T833C), and methionine synthase (A2756G) genes cause hyperhomocysteinemia, an independent risk factor for atherothrombosis.
- Pubmed
- 12476935
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.229422799751437
- Year of publication
- 2002
Drugs