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
Inflammatory Bowel Diseases
Source Database
DisGeNET
Description
This meta-analysis showed the association between the T-allele and the T/T genotype and JIA (OR = 1.34, P = 0.03; OR = 1.97, P = 0.02) but did not reveal the association between the PTPN22 C1858T polymorphism and IBD, psoriasis, multiple sclerosis, Addison's disease and Celiac disease.
Pubmed
16760194
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.129001189040368
Year of publication
2007
Drugs