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 )
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 Cardiomyopathy
- Source Database
- DisGeNET
- Description
- Heterozygosity for the S180L variant of MAL/TIRAP, a gene expressing an adaptor protein in the Toll-like receptor pathway, is associated with lower risk of developing chronic Chagas cardiomyopathy.
- Pubmed
- 19456234
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00263847385068233
- Year of publication
- 2009
Drugs