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
- Non-alcoholic Fatty Liver Disease
- Source Database
- DisGeNET
- Description
- Although clinical evidence suggests that Gly482Ser polymorphism of PGC-1α is associated with an increased incidence of nonalcoholic fatty liver disease, a direct role for Gly482Ser mutation in altering PGC-1α actions on hepatocyte fat deposition remains to be explored.
- Pubmed
- 23602251
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0819000931045621
- Year of publication
- 2013
Drugs