Annotation Detail

Information
Associated Genes
TLR2
Associated Variants
TLR2 p.Arg753Gln (p.R753Q) ( ENST00000260010.7, ENST00000642580.1, ENST00000642700.2, ENST00000643501.2, ENST00000646219.2, ENST00000646900.2, ENST00000714431.1, ENST00000714432.1, ENST00000714433.1, ENST00000714434.1, ENST00000714435.1, ENST00000714436.1 )
TLR2 p.Arg753Gln (p.R753Q) ( ENST00000260010.7, ENST00000642580.1, ENST00000642700.2, ENST00000643501.2, ENST00000646219.2, ENST00000646900.2, ENST00000714431.1, ENST00000714432.1, ENST00000714433.1, ENST00000714434.1, ENST00000714435.1, ENST00000714436.1 )
Associated Disease
Lyme disease
Source Database
DisGeNET
Description
Heterozygous Arg753Gln polymorphism of human TLR-2 impairs immune activation by Borrelia burgdorferi and protects from late stage Lyme disease.
Pubmed
16081826
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0099872674401788
Year of publication
2005
Drugs