Annotation Detail
Information
- Associated Genes
- IRF5
- Associated Variants
-
IRF5 c.-12+413T>G
(
ENST00000357234.10,
ENST00000402030.6,
ENST00000477535.5,
ENST00000489702.6 )
rs2280714 ( ENST00000265388.10, ENST00000627585.2 )
IRF5 c.-12+413T>G ( ENST00000357234.10, ENST00000402030.6, ENST00000477535.5, ENST00000489702.6 )
rs2280714 ( ENST00000265388.10, ENST00000627585.2 ) - Associated Disease
- Lupus Erythematosus, Systemic
- Source Database
- DisGeNET
- Description
- Two genetic variants of the IRF5 gene (rs2004640 in exon 1 and rs2280714 in the 3'-untranslated region) have been shown to exert functional modifications affecting IRF5 messenger RNA splicing and expression, and have been associated with genetic predisposition to systemic lupus erythematosus (SLE).
- Pubmed
- 17133578
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.234583243237617
- Year of publication
- 2006
Drugs