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
- Endotoxin Hyporesponsiveness
- Source Database
- DisGeNET
- Description
- In support of this idea, we have recently demonstrated that lung recipients heterozygous for either of two functional polymorphisms (Asp299Gly or Thr399Ile) in Toll-like receptor 4 (TLR4) associated with endotoxin hyporesponsiveness have decreased acute rejection over the first 6 months after transplant.
- Pubmed
- 15640363
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.124267125083164
- Year of publication
- 2005
Drugs