Annotation Detail
Information
- Associated Genes
- TRIM21
- Associated Variants
-
PHRF1 c.421-1820T>C
(
ENST00000533464.5,
ENST00000416188.3,
ENST00000264555.10,
ENST00000413872.6 )
CDHR5 p.Arg357Ser (p.R357S) ( ENST00000358353.8, ENST00000674088.1, ENST00000397542.7, ENST00000349570.11 )
PHRF1 c.421-1820T>C ( ENST00000264555.10, ENST00000413872.6, ENST00000416188.3, ENST00000533464.5 )
CDHR5 p.Arg357Ser (p.R357S) ( ENST00000349570.11, ENST00000358353.8, ENST00000397542.7, ENST00000674088.1 ) - Associated Disease
- Lupus Erythematosus, Systemic
- Source Database
- DisGeNET
- Description
- Additionally, rs4963128 and rs2246614 were correlated with a variety of clinical subphenotypes, such as lupus nephritis, arthritis, and the production of anti-SSA/B autoantibodies, despite a lack of significant association between these two SNPs and SLE disease susceptibility in general.
- Pubmed
- 21167895
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0224735935558728
- Year of publication
- 2011
Drugs