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
- Bacterial Infections
- Source Database
- DisGeNET
- Description
- Two single nucleotide polymorphisms (SNPs) encoding Asp299Gly and Thr399Ile substitutions in the TLR4 ectodomain were previously associated with TLR4 hyporesponsiveness and increased susceptibility to bacterial infection.
- Pubmed
- 17709532
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0123443678971167
- Year of publication
- 2007
Drugs