Annotation Detail
Information
- Associated Genes
- PECAM1
- Associated Variants
-
PECAM1 MUTATION
PECAM1 p.Ser563Ile (p.S563I) ( ENST00000563924.6 )
PECAM1 p.Ser563Asn (p.S563N) ( ENST00000563924.6 ) - Associated Disease
- coronary artery disease
- Source Database
- DisGeNET
- Description
- We have shown that there were a significant differences for the 53 G/A and V125L and N563S polymorphisms of PECAM-1 in patients affected by CAD compared to controls.
- Pubmed
- 20370486
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00644859158147072
- Year of publication
- 2010
Drugs