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
peritonitis
Source Database
DisGeNET
Description
TLR4 A896G polymorphism (rs4986790) is a functional polymorphism resulting in hypo-responsiveness of the receptor, thus resulting in peritoneal inflammation.
Pubmed
21214494
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2011
Drugs