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
Mycoses
Source Database
DisGeNET
Description
The patient was in complete hematologic remission and molecular analyses did not display the presence of TLR2-R752Q, TLR4-D299G and TLR4-T399I polymorphisms that may predispose individuals to fungal infections.
Pubmed
17885950
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00453856695524446
Year of publication
2008
Drugs