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
- arteriosclerosis
- Source Database
- DisGeNET
- Description
- The PECAM1 Leu125Val and Ser563Asn polymorphisms may increase the risk of atherosclerosis but not necessarily of MI.
- Pubmed
- 14575520
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00244297684872273
- Year of publication
- 2003
Drugs