Annotation Detail
Information
- Associated Genes
- TLR2
- Associated Variants
-
TLR2 p.Pro631His (p.P631H)
(
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.Pro631His (p.P631H) ( 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
- Idiopathic pulmonary hypertension
- Source Database
- DisGeNET
- Description
- Among patients with SSc, the rare TLR2 Pro631His variant is robustly associated with antitopoisomerase positivity, the diffuse form of the disease, and the development of PAH.
- Pubmed
- 21905008
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2012
Drugs