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 Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- The variant allele of the Gly482Ser polymorphism in peroxisome proliferator-activated receptor-gamma co-activator-1alpha (PPARGC1A or PGC1alpha), a critical determinant of skeletal muscle metabolism, has been associated with obesity and type 2 diabetes.
- Pubmed
- 16474966
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.287121837724248
- Year of publication
- 2006
Drugs