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
- Some studies showed associations of the minor T allele of the C1858T single nucleotide polymorphism (SNP) corresponding to the R620W amino acid substitution of protein tyrosine phosphatase (PTPN22) with multiple autoimmune diseases, including systemic lupus erythematosus (SLE).
- Pubmed
- 23314521
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.225732605805839
- Year of publication
- 2013
Drugs