Annotation Detail

Information
Associated Genes
MRTFA
Associated Variants
MRTFA MUTATION
MRTFA MUTATION
TIRAP c.-92-11A>G ( ENST00000392678.7, ENST00000700489.1, ENST00000392680.6, ENST00000392679.6, ENST00000700488.1, ENST00000700491.1, ENST00000700492.1, ENST00000700495.1, ENST00000700490.1 )
TIRAP p.Ser180Leu (p.S180L) ( ENST00000700490.1, ENST00000700495.1, ENST00000700492.1, ENST00000700491.1, ENST00000700488.1, ENST00000392679.6, ENST00000392680.6, ENST00000700489.1, ENST00000392678.7 )
TIRAP c.-92-11A>G ( ENST00000392678.7, ENST00000392679.6, ENST00000392680.6, ENST00000700488.1, ENST00000700489.1, ENST00000700490.1, ENST00000700491.1, ENST00000700492.1, ENST00000700495.1 )
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
Tuberculosis, Pulmonary
Source Database
DisGeNET
Description
To evaluate the possible association between Toll-interleukin 1 receptor (TIR) domain containing adaptor protein (TIRAP; also known as MAL) rs1893352 and rs8177374 (S180L) gene polymorphisms and pulmonary tuberculosis (PTB) in a sample of Iranian population.
Pubmed
25066393
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2014
Drugs