Annotation Detail
Information
- Associated Genes
- IRF5
- Associated Variants
-
MSH5-SAPCD1 c.864-45G>A, MSH5 c.813-45G>A
(
ENST00000375703.7,
ENST00000375740.7,
ENST00000375750.9,
ENST00000375755.8,
ENST00000493662.6 )
ENSG00000244255 c.3362-61A>G, CFB c.1856-61A>G ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
IRF5 c.*128T>C ( ENST00000357234.10, ENST00000402030.6, ENST00000473745.5, ENST00000489702.6 )
MSH5-SAPCD1 c.864-45G>A, MSH5 c.813-45G>A ( ENST00000375703.7, ENST00000375740.7, ENST00000375750.9, ENST00000375755.8, ENST00000493662.6 )
ENSG00000244255 c.3362-61A>G, CFB c.1856-61A>G ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
IRF5 c.*128T>C ( ENST00000357234.10, ENST00000402030.6, ENST00000473745.5, ENST00000489702.6 ) - Associated Disease
- Lupus Erythematosus, Systemic
- Source Database
- DisGeNET
- Description
- Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk alleles in rs1270942 and rs3131379 increases the odds of also carrying the lupus risk allele in IRF5 (rs2070197) by 17% and 16%, respectively (P = 0.0028 and P = 0.0047, respectively).
- Pubmed
- 21952918
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.234583243237617
- Year of publication
- 2012
Drugs