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+4295A>G, TLR4 p.Asp299Gly (p.D299G) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
Associated Disease
Sepsis
Source Database
DisGeNET
Description
[Candidate single nucleotide polymorphisms (SNPs) within bacterial recognition (TLR4 +896, CD14 -159) and inflammatory response (TNF-alpha -308, IL-1beta -31, IL-6 -174) loci were evaluated for association with increased risk for severe sepsis (sepsis plus organ dysfunction or septic shock) and mortality.]
Pubmed
15520404
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.243539115231265
Year of publication
2004
Drugs