Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
ENSG00000264813 p.Thr342Met (p.T342M), ACE p.Thr916Met (p.T916M)
(
ENST00000290866.10,
ENST00000428043.5,
ENST00000413513.7,
ENST00000290863.10 )
ENSG00000264813 p.Thr342Met (p.T342M), ACE p.Thr916Met (p.T916M) ( ENST00000290863.10, ENST00000290866.10, ENST00000413513.7, ENST00000428043.5 ) - Associated Disease
- Endothelial dysfunction
- Source Database
- DisGeNET
- Description
- Angiotensin-converting enzyme (ACE) insertion (I)/deletion (D) and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms are linked to endothelial dysfunction and to cerebral white matter lesions.
- Pubmed
- 19298544
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
- Year of publication
- 2009
Drugs