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
- A single nucleotide polymorphism within the coding region of the PGC-1 gene predicts a glycine to serine substitution at amino acid 482 and has been associated with type 2 diabetes in a Danish population.
- Pubmed
- 12606537
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.287121837724248
- Year of publication
- 2003
Drugs