Annotation Detail
Information
- Associated Genes
- TLR2
- Associated Variants
-
TLR2 p.Arg677Trp (p.R677W)
(
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.Arg677Trp (p.R677W) ( 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
- Leprosy, Lepromatous
- Source Database
- DisGeNET
- Description
- Thus, these results suggest that the TLR2 signal pathway plays a critical role in the alteration of cytokine profiles in PBMC from leprosy patients and the TLR2 mutation Arg677Trp provides a mechanism for the poor cellular immune response associated with lepromatous leprosy.
- Pubmed
- 15270740
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00680590984533586
- Year of publication
- 2004
Drugs