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
rheumatic fever
Source Database
DisGeNET
Description
Toll-like receptor 2 (TLR2) has been known to recognize several microbial antigens including that of streptococci, and TLR2 gene Arg753Gln polymorphism has been reported to be strongly associated with acute rheumatic fever with an odds ratio of 100.
Pubmed
19693643
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00563426596522981
Year of publication
2009
Drugs