Annotation Detail
Information
- Associated Genes
- TSBP1
- Associated Variants
-
TSBP1 p.Lys400Gln (p.K400Q)
(
ENST00000375015.8,
ENST00000442822.6,
ENST00000447241.6,
ENST00000527965.5,
ENST00000533191.6 )
TSBP1 p.Lys400Gln (p.K400Q) ( ENST00000375015.8, ENST00000442822.6, ENST00000447241.6, ENST00000527965.5, ENST00000533191.6 ) - 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
- 0.00946812791440812
- Year of publication
- 2008
Drugs