Annotation Detail
Information
- Associated Genes
- TLR4
- Associated Variants
-
ENSG00000285082 c.140+4295A>G, TLR4 p.Asp299Gly (p.D299G)
(
ENST00000355622.8,
ENST00000394487.5,
ENST00000472304.2 )
ENSG00000285082 c.140+4595C>T, TLR4 p.Thr399Ile (p.T399I) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
ENSG00000285082 c.140+4295A>G, TLR4 p.Asp299Gly (p.D299G) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
ENSG00000285082 c.140+4595C>T, TLR4 p.Thr399Ile (p.T399I) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 ) - Associated Disease
- diabetic retinopathy
- Source Database
- DisGeNET
- Description
- Two specific polymorphisms of toll-like receptor 4 (TLR4; Asp299Gly and Thr399Ile) have recently been identified either as candidate protector genes against DM2 and associated neuropathy or risk alleles for the manifestation of diabetic retinopathy.
- Pubmed
- 21628510
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2011
Drugs