Annotation Detail
Information
- Associated Genes
- PTPN22
- Associated Variants
-
PTPN22 p.Trp620Arg (p.W620R)
(
ENST00000525799.1,
ENST00000538253.5,
ENST00000420377.6,
ENST00000528414.5,
ENST00000460620.5,
ENST00000359785.10 )
PTPN22 p.Trp620Arg (p.W620R) ( ENST00000359785.10, ENST00000420377.6, ENST00000460620.5, ENST00000525799.1, ENST00000528414.5, ENST00000538253.5 ) - Associated Disease
- Autoimmune Diseases
- Source Database
- DisGeNET
- Description
- The association of subsets of SSc with the PTPN22 R620W polymorphism further strengthens the classification of SSc within the spectrum of autoimmune diseases and strongly suggests the involvement of common susceptibility genes and similarly disordered immunoregulatory pathways.
- Pubmed
- 17133608
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.225732605805839
- Year of publication
- 2006
Drugs