Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Insulin-Dependent
0.900 SusceptibilityMutation disease RGD These findings are consistent with a role for rat Ptpn22 allelic variation within Iddm26.2 in the regulation of T cell responses, and subsequently the risk for development of T1D. 25505293 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.800 SusceptibilityMutation disease ORPHANET Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing. 22654485 2012
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.800 SusceptibilityMutation disease ORPHANET A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. 19838195 2009
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.800 SusceptibilityMutation disease ORPHANET Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. 15273934 2004
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.800 SusceptibilityMutation disease ORPHANET Genetics and epigenetics of systemic lupus erythematosus. 23943494 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.800 SusceptibilityMutation disease ORPHANET The meta-analysis showed that the 1858C/T polymorphism of the PTPN22 gene is correlated with systemic lupus erythematosus susceptibility, when assessed by distribution characteristics such as nationality, race, and region. 23966601 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.800 SusceptibilityMutation disease ORPHANET Since the rs2476601 risk allele frequency differs dramatically across ethnicities, we assessed robustness of PTPN22 association with SLE and its clinical sub-phenotypes across four ethnically diverse populations. 23950893 2013
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis
0.340 SusceptibilityMutation disease ORPHANET Our results suggest that the PTPN22 polymorphism rs2476601/R620W plays an important role in the genetic risk to GCA. 23946333 2013
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis
0.330 SusceptibilityMutation disease ORPHANET The protein tyrosine phosphatase nonreceptor 22 C1858T polymorphism and vasculitis: a meta-analysis. 22696186 2012
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis
0.330 SusceptibilityMutation disease ORPHANET Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis. 22508400 2012
CUI: C0042170
Disease: Uveomeningoencephalitic Syndrome
Uveomeningoencephalitic Syndrome
0.320 SusceptibilityMutation disease ORPHANET The study showed that a functional variant of PTPN22 confers risk for VKH syndrome but not for AAU+AS+ in a Chinese Han population, which may be due to a modulation of the PTPN22 expression, PBMC proliferation and IL-10 production. 24816862 2014
CUI: C1956391
Disease: Temporal Arteritis
Temporal Arteritis
0.300 SusceptibilityMutation disease ORPHANET Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis. 23946333 2013
Juvenile pauciarticular chronic arthritis
0.300 SusceptibilityMutation disease ORPHANET Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.800 AlteredExpression disease BEFREE Correlation between the level of PTPN22 isoforms in peripheral blood and clinical features of SLE was examined with statistical analyses. 24433447 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 AlteredExpression disease BEFREE We have demonstrated significant differences in expression of PTPN22 alleles in RA patients, indicating the probable existence of cis-acting regulatory elements. 22632125 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 AlteredExpression disease BEFREE Interestingly, a reduced PTPN22 expression was disclosed in RA patients with ischemic heart disease (p = 0.009). 28874816 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 AlteredExpression disease BEFREE In addition, how the overall activity of PTPN22 is regulated and how the R-to-W conversion contributes to rheumatoid arthritis is still poorly understood. 22427951 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 AlteredExpression disease BEFREE More importantly, the in vitro normalization of PTPN22 expression correlates with clinical response to the targeted therapies in a longitudinal RA cohort. 31030958 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.500 AlteredExpression group BEFREE Furthermore, the Q263 variant conferred protection against human systemic lupus erythematosus, reinforcing the proposal that inhibition of LYP activity could be beneficial in human autoimmunity. 18981062 2009
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.500 AlteredExpression group BEFREE PTPN22, a protein tyrosine phosphatase expressed mainly in hematopoietic cells, has been linked to many autoimmune diseases. 23913970 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.500 AlteredExpression group BEFREE Overexpression of the autoimmunity-associated phosphatase PTPN22 promotes survival of antigen-stimulated CLL cells by selectively activating AKT. 22569400 2012
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.500 AlteredExpression group BEFREE PTPN22(-/-) T(regs) were more effective at immunosuppression than were wild-type T(regs), and they suppressed the activity of PTPN22(-/-) effector T cells, preventing autoimmunity. 23193160 2012
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.400 AlteredExpression group BEFREE Furthermore, association between inflammation and decreased expression levels of MAGI3, PTEN, and TJP1 in colonic IBD as well as UC mucosa, and between inflammation and increased expression of PTPN22 in colonic IBD mucosa, was observed. 28545409 2017
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.400 AlteredExpression group BEFREE Intestinal tissue samples from patients with or without inflammatory bowel disease (controls) were analyzed for levels of PTPN22 messenger RNA (mRNA) and protein. 23380085 2013
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis
0.340 AlteredExpression disease LHGDN Our results do not support potential involvement of PTPN22 gene polymorphism in the susceptibility or clinical expression of GCA. 16078327 2005