Annotation Detail
Information
- Associated Genes
- PPARG
- Associated Variants
-
LEPR p.Lys109Arg (p.K109R)
(
ENST00000344610.12,
ENST00000371058.1,
ENST00000371060.7,
ENST00000616738.4,
ENST00000371059.7,
ENST00000349533.11 )
LEPR p.Gln223Arg (p.Q223R) ( ENST00000344610.12, ENST00000371058.1, ENST00000371060.7, ENST00000616738.4, ENST00000371059.7, ENST00000349533.11 )
LEPR p.Lys656Asn (p.K656N) ( ENST00000349533.11, ENST00000616738.4, ENST00000371059.7, ENST00000371060.7, ENST00000344610.12, ENST00000371058.1 )
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 )
ENSG00000290230 p.Arg222Gln (p.R222Q), EXOSC4 p.Arg222Gln (p.R222Q) ( ENST00000316052.6 )
LEPR p.Lys109Arg (p.K109R) ( ENST00000344610.12, ENST00000349533.11, ENST00000371058.1, ENST00000371059.7, ENST00000371060.7, ENST00000616738.4 )
LEPR p.Gln223Arg (p.Q223R) ( ENST00000344610.12, ENST00000349533.11, ENST00000371058.1, ENST00000371059.7, ENST00000371060.7, ENST00000616738.4 )
LEPR p.Lys656Asn (p.K656N) ( ENST00000344610.12, ENST00000349533.11, ENST00000371058.1, ENST00000371059.7, ENST00000371060.7, ENST00000616738.4 )
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 )
ENSG00000290230 p.Arg222Gln (p.R222Q), EXOSC4 p.Arg222Gln (p.R222Q) ( ENST00000316052.6 ) - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP A19G), the leptin receptor gene (LEPR Q223R, K109R, and K656N), and the peroxisome proliferator-activated receptor-gamma gene (PPARG P12A and C161T)--have been investigated as possible factors associated with obesity.
- Pubmed
- 15972940
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.438816187707483
- Year of publication
- 2005
Drugs