Annotation Detail
Information
- Associated Genes
- INS
- Associated Variants
-
PPARGC1A p.Gly482Ser (p.G482S)
(
ENST00000264867.7,
ENST00000613098.4 )
PPARGC1A p.Gly482Ser (p.G482S) ( ENST00000264867.7, ENST00000613098.4 ) - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- The Gly482Ser missense mutation of the peroxisome proliferator-activated receptor gamma coactivator-1 alpha (PGC-1 alpha) gene associates with reduced insulin sensitivity in normal and glucose-intolerant obese subjects.
- Pubmed
- 16403952
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.230771415721826
- Year of publication
- 2005
Drugs