Annotation Detail

Information
Associated Genes
TIRAP
Associated Variants
TIRAP MUTATION
TIRAP MUTATION
TIRAP p.Ser180Leu (p.S180L) ( ENST00000700490.1, ENST00000700495.1, ENST00000700492.1, ENST00000700491.1, ENST00000700488.1, ENST00000392679.6, ENST00000392680.6, ENST00000700489.1, ENST00000392678.7 )
ENSG00000285082 c.140+4295A>G, TLR4 p.Asp299Gly (p.D299G) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
TIRAP p.Ser180Leu (p.S180L) ( ENST00000392678.7, ENST00000392679.6, ENST00000392680.6, ENST00000700488.1, ENST00000700489.1, ENST00000700490.1, ENST00000700491.1, ENST00000700492.1, ENST00000700495.1 )
ENSG00000285082 c.140+4295A>G, TLR4 p.Asp299Gly (p.D299G) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
Associated Disease
rheumatoid arthritis
Source Database
DisGeNET
Description
The Mal S180L and TLR4 G299D polymorphisms do not contribute to RA susceptibility or severity either individually or in combination.
Pubmed
18180278
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2008
Drugs