Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE A coding variant in PTPN22 (C1858T) is one of the most important genetic risk factors in type 1 diabetes (T1D). 31732921

2020

dbSNP: rs2476601
rs2476601
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome
0.030 GeneticVariation BEFREE Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS. 30508004

2020

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE The B cells percentage and mCD40 expression were similar between RA and CS (P > 0.05) and we did not find an association between these variables and the 1858C>T polymorphism. 30402903

2019

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE Here, we analysed the effect of T1D-associated major HLA class II haplotypes and seven single nucleotide polymorphisms in six non-HLA genes [INS (rs689), PTPN22 (rs2476601), IL2RA (rs12722495 and rs2104286), PTPN2 (rs45450798), CTLA4 (rs3087243) and ERBB3 (rs2292239)] on peripheral blood Treg frequencies. 31808541

2019

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE Computational Molecular Phenotypic Analysis of PTPN22 (W620R), IL6R (D358A), and TYK2 (P1104A) Gene Mutations of Rheumatoid Arthritis. 30899276

2019

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE The aim of this meta-analysis was to determine the association of common type 1 diabetes (T1D) and type 2 diabetes (T2D) gene variants (protein tyrosine phosphatase non-receptor 22 [PTPN22] rs2476601C/T, insulin [INS] rs689A/T and transcription factor 7-like 2 [TCF7L2] rs7903146C/T) with latent autoimmune diabetes in adults (LADA). 30456822

2019

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE PTPN22 rs2476601 polymorphism frequency was higher in RA and UA vs the general population; however, this was significantly different only for RA vs control group (OR [95% CI] = 1.81 [1.10-3.02], P = 0.018. 30306282

2019

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE We examined <i>PTPN22</i> rs2476601 (p.Arg620Trp), <i>NLRP3</i> rs35829419 (p.Gln705Lys), and <i>CARD8</i> rs2043211 (p.Cys10Ter) in 66 subjects with coexisting T1D and CD, 65 subjects with T1D who did not develop CD, 67 subjects diagnosed only with CD and 127 healthy unrelated Slovenian individuals. 30915320

2019

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
A 1.000 GeneticVariation GWASCAT Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. 30423114

2019

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation BEFREE Results showed that 1858 C/T PTPN22 SNP significantly (P =  0.007, OR = 2.321, 95% CI = 1.063-5.067) associated with RA. 31669381

2019

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
A 1.000 GeneticVariation GWASCAT Studying the effects of haplotype partitioning methods on the RA-associated genomic results from the North American Rheumatoid Arthritis Consortium (NARAC) dataset. 30891314

2019

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Genome-wide association studies have linked single-nucleotide polymorphisms in the phosphatases <i>PTPN22</i> (rs2476601) and <i>PTPN2</i> (rs1893217) to increased risk for multiple autoimmune diseases. 31722988

2019

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Association of PTPN22 1858C/T Polymorphism with Autoimmune Diseases: A Systematic Review and Bayesian Approach. 30871019

2019

dbSNP: rs2476601
rs2476601
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019

dbSNP: rs2476601
rs2476601
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE Since the expression of the negative T-cell signaling molecule PTPN22 is increased and a marker of poor prognosis in SLE, we tested the influence of its missense risk allele Trp<sup>620</sup> (rs2476601C>T) on Treg frequency. 31781109

2019

dbSNP: rs2476601
rs2476601
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.900 GeneticVariation BEFREE Our preliminary study suggest that PTPN22:c.1858C>T gene polymorphism may be associated with a predisposition to GD within the adult north-eastern Polish population. 30938100

2019

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs2476601
rs2476601
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE Among the 26 non-MHC gene alleles analyzed, SNP rs2476601 in PTPN22 gene confers the highest risk for SLE (p = 0.0001; OR = 5.6). 31032751

2019

dbSNP: rs2476601
rs2476601
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation BEFREE In observational studies, the associations of 1858 C/T genetic variant were noteworthy for 12 autoimmune or autoimmunity-related diseases (rheumatoid arthritis, systemic lupus erythematosus, type 1 diabetes mellitus, juvenile idiopathic arthritis, Crohn's disease, anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis, vitiligo, Graves' disease, myasthenia gravis, Addison's disease, giant cell arteritis, and endometriosis). 30871019

2019

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE For Caucasian females, PTPN22 SNP rs2476601 was significantly associated with autoimmune disease by allelic association tests (OR = 1.99, [1.30-3.04]). 31759816

2019

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Our data showed that the PTPN22 R620W polymorphism is a risk factor for TA (CC vs. CT: OR 4.3, p = 0.002, and C vs. T: OR 4.1, p = 0.003); however, the PTPN22 R263Q and - 1123G/C polymorphisms are not associated with this AD. 30470857

2019

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Results set-up the stage for ultimate trials in the treatment of autoimmunity based on the specific inhibitory targeting of C1858T PTPN22 by lipoplexes. 30439564

2019

dbSNP: rs2476601
rs2476601
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.800 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs2476601
rs2476601
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.760 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019