Annotation Detail
Information
- Associated Genes
- SELE
- Associated Variants
-
SELE p.Ser149Arg (p.S149R)
(
ENST00000333360.12,
ENST00000367775.5,
ENST00000367777.5,
ENST00000367776.5,
ENST00000367774.1 )
SELE p.Ser149Arg (p.S149R) ( ENST00000333360.12, ENST00000367774.1, ENST00000367775.5, ENST00000367776.5, ENST00000367777.5 ) - Associated Disease
- Cardiovascular Diseases
- Source Database
- DisGeNET
- Description
- The rs5361 (561A>C) polymorphism in the E-selectin gene has been linked to changes in gene expression, affinity for its receptor, and plasmatic levels; therefore it is associated with an increased risk of cardiovascular disease.
- Pubmed
- 25147432
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.133278245645196
- Year of publication
- 2014
Drugs