Annotation Detail
Information
- Associated Genes
- IRF5
- Associated Variants
-
IRF5 c.-12+413T>G
(
ENST00000357234.10,
ENST00000402030.6,
ENST00000477535.5,
ENST00000489702.6 )
IRF5 c.*555G>A ( ENST00000357234.10, ENST00000402030.6, ENST00000473745.5, ENST00000489702.6 )
IRF5 c.-12+413T>G ( ENST00000357234.10, ENST00000402030.6, ENST00000477535.5, ENST00000489702.6 )
IRF5 c.*555G>A ( ENST00000357234.10, ENST00000402030.6, ENST00000473745.5, ENST00000489702.6 ) - Associated Disease
- uveitis
- Source Database
- DisGeNET
- Description
- Consistently, the subphenotype analysis accordingly with the presence/absence of this clinical condition also reached statistical significance (rs2004640: P=0.037, OR=0.69, CI 95%=0.48-0.98; rs10954213: P=0.030, OR=0.67, CI 95%=0.47-0.96), thus suggesting that both IRF5 genetic variants are specifically associated with the lack of macular edema in uveitis patients.
- Pubmed
- 24116155
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs