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
- diabetic retinopathy
- Source Database
- DisGeNET
- Description
- The association of non-synonymous substitution polymorphism rs1801282 (c.34C>G, p.Pro12Ala) in exon 4 of the peroxisome proliferator activated receptor gamma gene with diabetic retinopathy (DR) has been reported inconsistently.
- Pubmed
- 23559865
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00753435906979193
- Year of publication
- 2013
Drugs