Annotation Detail

Information
Associated Genes
PPARGC1A
Associated Variants
PPARGC1A p.Gly482Ser (p.G482S) ( ENST00000264867.7, ENST00000613098.4 )
ENPP1 p.Lys173Gln (p.K173Q) ( ENST00000647893.1 )
ADRB3 p.Trp64Arg (p.W64R) ( ENST00000345060.5 )
PPARGC1A p.Gly482Ser (p.G482S) ( ENST00000264867.7, ENST00000613098.4 )
ENPP1 p.Lys173Gln (p.K173Q) ( ENST00000647893.1 )
ADRB3 p.Trp64Arg (p.W64R) ( ENST00000345060.5 )
Associated Disease
Diabetes Mellitus, Non-Insulin-Dependent
Source Database
DisGeNET
Description
Under an additive genetic model, the C allele of ADRB3-rs4994, the C allele of ENPP1-rs1044498, and the A allele of PPARGC1A-rs8192678 increase the risk of type 2 diabetes in the Chinese Han population.
Pubmed
22391941
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.287121837724248
Year of publication
2012
Drugs