Annotation Detail

Information
Associated Genes
PPARG
Associated Variants
PPARG p.Pro12Ala (p.P12A) ( ENST00000309576.11, ENST00000397010.7, ENST00000397000.6, ENST00000287820.10, ENST00000397015.7, ENST00000397026.7, ENST00000643197.2, ENST00000643888.2, ENST00000644622.2, ENST00000651735.1, ENST00000652098.1, ENST00000652431.1, ENST00000681982.1, ENST00000682446.1, ENST00000683586.1, ENST00000683699.1 )
PPARG p.Pro40Ala (p.P40A) ( ENST00000287820.10, ENST00000309576.11, ENST00000397000.6, ENST00000397010.7, ENST00000397015.7, ENST00000397026.7, ENST00000643197.2, ENST00000643888.2, ENST00000644622.2, ENST00000651735.1, ENST00000652098.1, ENST00000652431.1, ENST00000681982.1, ENST00000682446.1, ENST00000683586.1, ENST00000683699.1 )
PPARG p.Pro12Ala (p.P12A) ( ENST00000287820.10, ENST00000309576.11, ENST00000397000.6, ENST00000397010.7, ENST00000397015.7, ENST00000397026.7, ENST00000643197.2, ENST00000643888.2, ENST00000644622.2, ENST00000651735.1, ENST00000652098.1, ENST00000652431.1, ENST00000681982.1, ENST00000682446.1, ENST00000683586.1, ENST00000683699.1 )
PPARG p.Pro40Ala (p.P40A) ( ENST00000287820.10, ENST00000309576.11, ENST00000397000.6, ENST00000397010.7, ENST00000397015.7, ENST00000397026.7, ENST00000643197.2, ENST00000643888.2, ENST00000644622.2, ENST00000651735.1, ENST00000652098.1, ENST00000652431.1, ENST00000681982.1, ENST00000682446.1, ENST00000683586.1, ENST00000683699.1 )
Associated Disease
rheumatoid arthritis
Source Database
DisGeNET
Description
The purpose of this study was to examine whether a Proline (Pro)-to-Alanine (Ala) exchange at codon 12 (Pro12Ala) polymorphism of the peroxisome proliferator-activated receptor-gamma (PPARγ) is associated with susceptibility to nonalcoholic fatty liver disease (NAFLD), rheumatoid arthritis (RA), and psoriatic arthritis (PsA).
Pubmed
24697566
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00609127331760558
Year of publication
2014
Drugs