Annotation Detail
Information
- Associated Genes
- CFB
- Associated Variants
-
ENSG00000244255 c.3362-61A>G, CFB c.1856-61A>G
(
ENST00000425368.7,
ENST00000483004.2,
ENST00000698628.1 )
ENSG00000244255 c.3362-61A>G, CFB c.1856-61A>G ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 ) - Associated Disease
- Lupus Erythematosus, Systemic
- Source Database
- DisGeNET
- Description
- [We identified and then confirmed through replication two new genetic loci for SLE: a promoter-region allele associated with reduced expression of BLK and increased expression of C8orf13 and variants in the ITGAM-ITGAX region.]
- Pubmed
- 18204098
- Original source reporting the Gene Disease association
- GAD
- DisGENET score for the Gene Disease association
- 0.134202191871612
- Year of publication
- 2008
Drugs