Annotation Detail
Information
- Associated Genes
- UCP1
- Associated Variants
-
TCF7L2 c.552+7162G>C
(
ENST00000355995.9,
ENST00000534894.5,
ENST00000352065.10,
ENST00000369397.8,
ENST00000538897.5,
ENST00000627217.3,
ENST00000704414.1,
ENST00000629706.2,
ENST00000277945.12,
ENST00000369395.6,
ENST00000355717.9,
ENST00000545257.6 )
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.His477= (p.H477=) ( ENST00000397000.6, ENST00000397010.7, ENST00000309576.11, ENST00000397015.7, ENST00000397026.7, ENST00000287820.10, ENST00000652431.1, ENST00000643197.2, ENST00000643888.2, ENST00000644622.2, ENST00000651735.1, ENST00000652098.1, ENST00000681982.1, ENST00000682446.1, ENST00000683586.1, ENST00000683699.1 )
NC_000004.12:g.140572807T>C
COL27A1 c.2619+292G>A ( ENST00000356083.8 )
TCF7L2 c.552+7162G>C ( ENST00000277945.12, ENST00000352065.10, ENST00000355717.9, ENST00000355995.9, ENST00000369395.6, ENST00000369397.8, ENST00000534894.5, ENST00000538897.5, ENST00000545257.6, ENST00000627217.3, ENST00000629706.2, ENST00000704414.1 )
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.His477= (p.H477=) ( 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 )
NC_000004.12:g.140572807T>C
COL27A1 c.2619+292G>A ( ENST00000356083.8 ) - Associated Disease
- Diabetes
- Source Database
- DisGeNET
- Description
- A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group consisted of 448 patients, which was further subclassified into a proliferative DR (PDR) group with 220 patients and a non-proliferative DR (NPDR) group with 228 patients; (2) the diabetes without retinopathy (DNR) group, comprised 344 patients who had no signs of DR. Single-nucleotide polymorphisms (SNPs), rs1800592 in the UCP1 gene, rs1801282, rs3856806 and rs1249719 in the PPARγ gene and rs11196205 in the TCF7L2 gene were genotyped in this study.
- Pubmed
- 25274455
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00190009310456212
- Year of publication
- 2014
Drugs