Annotation Detail

Information
Associated Genes
UCP2
Associated Variants
UCP2 p.Ala55Val (p.A55V) ( ENST00000663595.2, ENST00000310473.9, ENST00000536983.5 )
UCP2 p.Ala55Val (p.A55V) ( ENST00000310473.9, ENST00000536983.5, ENST00000663595.2 )
Associated Disease
Cardiovascular Diseases
Source Database
DisGeNET
Description
UCP2 (uncoupling protein 2) plays an important role in cardiovascular diseases and recent studies have suggested that the A55V polymorphism can cause UCP2 dysfunction.
Pubmed
23537071
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.007915421552047
Year of publication
2013
Drugs