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.Arg263Gln (p.R263Q) ( ENST00000460620.5, ENST00000359785.10, ENST00000420377.6, ENST00000528414.5, ENST00000538253.5, ENST00000525799.1 )
PTPN22 p.Trp620Arg (p.W620R) ( ENST00000359785.10, ENST00000420377.6, ENST00000460620.5, ENST00000525799.1, ENST00000528414.5, ENST00000538253.5 )
PTPN22 p.Arg263Gln (p.R263Q) ( ENST00000359785.10, ENST00000420377.6, ENST00000460620.5, ENST00000525799.1, ENST00000528414.5, ENST00000538253.5 ) - Associated Disease
- Autoimmune Diseases
- Source Database
- DisGeNET
- Description
- Two independent functional missense single nucleotide polymorphisms (SNPs) located within the PTPN22 gene (R263Q and R620W) have been associated with different autoimmune disorders.
- Pubmed
- 23559857
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.225732605805839
- Year of publication
- 2013
Drugs