Annotation Detail
Information
- Associated Genes
- TNPO3
- Associated Variants
-
TNPO3 SNV
TNPO3 c.2164-1477T>G ( ENST00000265388.10, ENST00000471166.1, ENST00000471234.5, ENST00000482320.5, ENST00000627585.2 )
TNPO3 c.2164-1477T>C ( ENST00000265388.10, ENST00000471166.1, ENST00000471234.5, ENST00000482320.5, ENST00000627585.2 )
TNPO3 SNV
TNPO3 c.2164-1477T>G ( ENST00000265388.10, ENST00000471166.1, ENST00000471234.5, ENST00000482320.5, ENST00000627585.2 )
TNPO3 c.2164-1477T>C ( ENST00000265388.10, ENST00000471166.1, ENST00000471234.5, ENST00000482320.5, ENST00000627585.2 ) - 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
- 0.129739569786488
- Year of publication
- 2008
Drugs