Annotation Detail
Information
- Associated Genes
- ACE
- Associated Variants
-
NOS3 c.-51-735C>T
(
ENST00000297494.8,
ENST00000461406.5 )
NOS3 c.-51-735C>T ( ENST00000297494.8, ENST00000461406.5 ) - Associated Disease
- Aneurysm
- Source Database
- DisGeNET
- Description
- More significant associations between single nucleotide polymorphisms (-786T/C endothelial nitric oxide synthase enzyme, D/I angiotensin-converting enzyme, -1562C/T metalloproteinase-9 and -735C/T metalloproteinase-2) and aneurysm risk were detected in BAV patients than in controls.
- Pubmed
- 22194275
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2012
Drugs