Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The disease-associated PTPN22-R620W variant protein is likely involved in multiple stages of the pathogenesis of autoimmunity. 24364806

2014

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE A common polymorphism (C1858T) in the gene that encodes the protein tyrosine phosphatase non-receptor type 22 (PTPN22) is associated with altered T-cell responses and increased susceptibility to rheumatoid arthritis (RA) and other autoimmune diseases. 25040563

2014

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide polymorphism, C1858T, associated with several autoimmune diseases such as type I diabetes, rheumatoid arthritis, and lupus. 23359562

2013

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE PTPN22 1858C>T gene polymorphism has been associated with several autoimmune disorders including alopecia areata. 23570882

2013

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Previous studies identified the functional polymorphism 1858C/T in the gene PTPN22 in association with several autoimmune diseases and with resistance to tuberculosis (TB). 23499775

2013

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The 1858T allele of protein tyrosine phosphatase nonreceptor type 22 (PTPN22; R620W) exhibits one of the strongest and most consistent associations with sporadic autoimmune disease. 22857794

2013

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The C1858T single nucleotide polymorphism in PTPN22, which is the gene encoding lymphoid tyrosine phosphatase (LYP), confers increased risk for various autoimmune disorders in Caucasians. 23333624

2013

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE In this family, the C1858T variant might confer a high risk of autoimmunity. 22809281

2013

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE We highlight the pathogenic significance of the C1858T PTPN22 polymorphism in human autoimmunity with special reference to Type 1 diabetes. 23261816

2013

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Two independent functional missense single nucleotide polymorphisms (SNPs) located within the PTPN22 gene (R263Q and R620W) have been associated with different autoimmune disorders. 23559857

2013

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE We set out to analyze the role of two major non-HLA gene polymorphisms associated with type 1 diabetes (T1D), PTPN22 1858C/T and insulin gene INS-23 A/T in progression to clinical T1D after the appearance of β-cell autoimmunity. 22357962

2012

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE C1858T single nucleotide polymorphism in PTPN22 encoding the R620W allele variant of Lyp-PTPN22 (a protein phosphatase negatively regulating T-cell activation) has been associated with autoimmunity. 22704547

2012

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
A 0.900 GeneticVariation GWASCAT Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Further analysis revealed a clear distinction between the two groups of diseases with regard to their targeted tissues: most autoimmune diseases showing an insignificant association with PTPN22 C1858T manifest in skin, the gastrointestinal tract or in immune privileged sites. 23076337

2012

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The functional R620W (C1858T) polymorphism of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, a member of the PTPs that negatively regulate T-cell activation, has been recently associated with susceptibility to various autoimmune diseases. 21543514

2011

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967

2011

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The PTPN22 rs2476601 genetic variant has been associated with rheumatoid arthritis (RA) and other autoimmune diseases. 21965649

2011

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE An elevated PTPN22 1858C/T genotype frequency has been correlated with several autoimmune disorders which have T-cell and humoral components. 21585555

2011

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE These results indicate that the PTPN22 gene polymorphism independent of the SNP rs2476601 might be a supplementary risk factor to AITD, but not in T1D in Koreans, contradicting a major contributory influence of the PTPN22 gene in explaining common mechanism underlying multiple autoimmune diseases. 22069277

2011

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE In concordance with a previous data establishing PTPN22 1858 C/T SNP association with several autoimmune diseases, our findings provide further evidence that the PTPN22 gene may play an important role in the susceptibility to some autoimmune diseases. 21467606

2011

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE These data strengthen evidence that the R620W mutation is a common risk factor in autoimmune diseases. 21131644

2011

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The aim of this study was to assess whether the functional R620W polymorphism of protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene encoding the lymphoid-specific tyrosine phosphatase, which is known to be associated with various autoimmune diseases, also confers increased risk for PS in the genetic homogeneous population of Crete. 20039785

2010

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE No association was found between C1858T polymorphism and diabetes-related autoimmunity (p = 0.173) or thyroid autoimmune disease (p = 0.321), respectively. 20438787

2010

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Endometriosis has been suggested to be an autoimmune disease and recently, an allelic variation of the PTPN22 (C1858T) gene was revealed to be associated with the development of autoimmunity. 20070289

2010

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The data suggest that in Brazilian patients with TS, the PTPN22 C1858T polymorphism may be an important genetic factor predisposing to autoimmune disease risk. 20696024

2010