Annotation Detail

Information
Associated Genes
ACP1
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 rs2476601-T allele at the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene has been consistently associated with several autoimmune diseases in European-derived populations.
Pubmed
20166877
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0135720936040152
Year of publication
2010
Drugs