Annotation Detail
Information
- Associated Genes
- PTPN22
- Associated Variants
-
PTPN22 p.Arg263Gln (p.R263Q)
(
ENST00000460620.5,
ENST00000359785.10,
ENST00000420377.6,
ENST00000528414.5,
ENST00000538253.5,
ENST00000525799.1 )
PTPN22 p.Arg263Gln (p.R263Q) ( ENST00000359785.10, ENST00000420377.6, ENST00000460620.5, ENST00000525799.1, ENST00000528414.5, ENST00000538253.5 ) - Associated Disease
- Lupus Erythematosus, Systemic
- Source Database
- DisGeNET
- Description
- Recently, a functional PTPN22 variant (R263Q; rs33996649) was found to be associated with systemic lupus erythematosus (SLE).
- Pubmed
- 21279993
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.276414275077069
- Year of publication
- 2011
Drugs