Annotation Detail
Information
- Associated Genes
- PPARGC1A
- Associated Variants
-
PPARGC1A p.Gly482Ser (p.G482S)
(
ENST00000264867.7,
ENST00000613098.4 )
PPARGC1A p.Gly482Ser (p.G482S) ( ENST00000264867.7, ENST00000613098.4 ) - Associated Disease
- Diabetes
- Source Database
- DisGeNET
- Description
- The Gly482Ser polymorphism in peroxisome proliferator-activated receptor gamma coactivator-1 alpha (PPARGC1A) has been demonstrated to be associated with diabetes, obesity and hypertension, all of which are important risk factors for left ventricular diastolic dysfunction.
- Pubmed
- 19077249
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00298586059288334
- Year of publication
- 2008
Drugs