Annotation Detail
Information
- Associated Genes
- TLR2
- Associated Variants
-
TLR2 MUTATION
TLR2 MUTATION
TIRAP p.Ser180Leu (p.S180L) ( ENST00000700490.1, ENST00000700495.1, ENST00000700492.1, ENST00000700491.1, ENST00000700488.1, ENST00000392679.6, ENST00000392680.6, ENST00000700489.1, ENST00000392678.7 )
TIRAP p.Ser180Leu (p.S180L) ( ENST00000392678.7, ENST00000392679.6, ENST00000392680.6, ENST00000700488.1, ENST00000700489.1, ENST00000700490.1, ENST00000700491.1, ENST00000700492.1, ENST00000700495.1 ) - Associated Disease
- Chagas disease
- Source Database
- DisGeNET
- Description
- T. cruzi-infected individuals who are heterozygous for the MAL/TIRAP S180L variant that leads to a decrease in signal transduction upon ligation of TLR2 or TLR4 to their respective ligand may have a lower risk of developing CCC.
- Pubmed
- 19456234
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2009
Drugs