Annotation Detail
Information
- Associated Genes
- ACE
- 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
- A slight chronic hypoperfusion or an endothelial dysfunction associated with unfavorable genetic variations such as methylenetetrahydrofolate reductase C677T variation and angiotensin-converting enzyme I/D polymorphism then may lead indirectly to a malfunction of the molecular cross-talk between the nucleus and the mitochondria.
- Pubmed
- 17114822
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00542883744160607
- Year of publication
- 2007
Drugs