Annotation Detail

Information
Associated Genes
TLR2
Associated Variants
TLR2 p.Pro631His (p.P631H) ( 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.Pro631His (p.P631H) ( 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
rheumatoid arthritis
Source Database
DisGeNET
Description
[Several SNPs mapping to the TLR and NFkappaB signalling systems demonstrated association with anti-TNF response as a whole and, in particular, with response to etanercept. Validation of these findings in an independent cohort is now warranted.]
Pubmed
20448286
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.138250075734427
Year of publication
2010
Drugs