Annotation Detail
Information
- Associated Genes
- IRAK1
- Associated Variants
-
IRAK1 p.Phe196Ser (p.F196S)
(
ENST00000369974.6,
ENST00000369980.8,
ENST00000393687.6,
ENST00000429936.6 )
IRAK1 p.Phe196Ser (p.F196S) ( ENST00000369974.6, ENST00000369980.8, ENST00000393687.6, ENST00000429936.6 ) - Associated Disease
- systemic scleroderma
- Source Database
- DisGeNET
- Description
- On the other hand, IRAK1 rs1059702 was consistently associated with presence of pulmonary fibrosis (PF), because statistical significance was observed when comparing SSc patients PF+ versus controls (PFDR=0.039, OR=1.30, 95% CI 1.07 to 1.58) and SSc patients PF+ versus SSc patients PF- (p=0.025, OR=1.26, 95% CI 1.03 to 1.55).
- Pubmed
- 23444193
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2014
Drugs