Annotation Detail
Information
- Associated Genes
- IRF5
- Associated Variants
-
IRF5 c.-12+413T>G
(
ENST00000357234.10,
ENST00000402030.6,
ENST00000477535.5,
ENST00000489702.6 )
IRF5 c.-12+413T>G ( ENST00000357234.10, ENST00000402030.6, ENST00000477535.5, ENST00000489702.6 ) - Associated Disease
- Hamman-Rich syndrome
- Source Database
- DisGeNET
- Description
- In a multivariate analysis model including the diffuse cutaneous subtype of SSc and positivity for anti-topoisomerase I antibodies, the IRF5 rs2004640 TT genotype remained associated with fibrosing alveolitis (P=0.029, OR 1.92, 95% CI 1.07-3.44).
- Pubmed
- 19116937
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2009
Drugs