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 R620W polymorphism of the PTPN22 gene is not a major risk allele for SLE susceptibility in our sample of Caucasian individuals from northern America, the UK, or Finland, but it appears to be a risk factor for the concurrent autoimmune diseases of autoimmune thyroid disease and SLE. 16052563

2005

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Recently, the association of a coding variant of the PTPN22 gene-R620W(1858C>T) with a number of autoimmune diseases has been described. 15875058

2005

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE To assess the possible association between the PTPN22 gene 1858C-->T polymorphism and the predisposition and clinical expression of 2 systemic autoimmune diseases, rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). 15641066

2005

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The results indicate that the LYP missense R620W polymorphism may have an influence on the development of generalised vitiligo and provide further evidence for autoimmunity as an aetiological factor with respect to this disease. 16015369

2005

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE A functional variant (R620W) of the intracellular protein tyrosine phosphatase N22 (PTPN22) has now been conclusively shown to confer approximately two-fold risk for seropositive RA as well as several other autoimmune disorders. 15790351

2005

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Recent findings have demonstrated that the single nucleotide polymorphism 1858C-->T located at the P1 motif of the PTPN22 (protein tyrosine phosphatase nonreceptor 22) gene has functional relevance and is associated with a variety of autoimmune diseases. 16112033

2005

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The minor allele of the R620W missense single-nucleotide polymorphism (SNP) (rs2476601) in the hematopoietic-specific protein tyrosine phosphatase gene, PTPN22, has been associated with multiple autoimmune diseases, including rheumatoid arthritis (RA). 16175503

2005

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Recently, 1858 C/T polymorphism of PTPN22 gene was reported to predispose to these autoimmune diseases. 15933742

2005

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases. 16163373

2005

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Altogether, we have provided further evidence of an association between autoimmune diseases and the 1858C>T polymorphism in PTPN22. 15759012

2005

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE A missense single nucleotide polymorphism (SNP) in the PTPN22 gene known as R620W was recently reported to be associated with several autoimmune diseases including rheumatoid arthritis (RA). 16690758

2006

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22 (protein tyrosine phosphatase non-receptor 22) gene has been reported to be associated with multiple autoimmune diseases, including type 1 diabetes, systemic lupus erythematosus, rheumatoid arthritis, juvenile idiopathic arthritis, autoimmune thyroiditis and vitiligo. 16464986

2006

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The association of subsets of SSc with the PTPN22 R620W polymorphism further strengthens the classification of SSc within the spectrum of autoimmune diseases and strongly suggests the involvement of common susceptibility genes and similarly disordered immunoregulatory pathways. 17133608

2006

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Recently, a gain of function variant C1858T of the lymphoid-specific protein tyrosine phosphatase non-receptor (LYP, PTPN22) gene has been reported to be associated with several autoimmune disorders including Graves' disease, type 1 diabetes, rheumatoid arthritis and vitiligo. 16893384

2006

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Several studies have identified a functional single nucleotide polymorphism 1858C/T in the PTPN22 gene to be associated with several autoimmune diseases. 17066073

2006

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The 1858C/T SNP of the PTPN22 gene has been associated with many autoimmune diseases, suggesting the existence of an inflammatory process common to all of them. 16539704

2006

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE In the pathogenesis of type 1 diabetes the underlying mechanism of the PTPN22 C1858T polymorphism appears to involve regulation of insulin-specific autoimmunity. 16614815

2006

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE These results suggest that the non-synonymous C1858T substitution in the PTPN22 gene may have an influence on the severity of alopecia areata and provide further evidence for autoimmunity as an aetiological factor in this disorder. 16829308

2006

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE We checked for the prevalence of the PTPN22 R620W polymorphism in multiplex families affected with systemic lupus erythematosus (SLE) and other autoimmune diseases. 17092257

2006

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Association between protein tyrosine phosphatase 22 variant R620W in conjunction with the HLA-DRB1 shared epitope and humoral autoimmunity to an immunodominant epitope of cartilage-specific type II collagen in early rheumatoid arthritis. 16385499

2006

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Variant R620W of protein tyrosine phosphatase non-receptor type 22 (PTPN22) has consistently been reported as a susceptibility factor for several autoimmune diseases. 16339849

2006

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Considering the female predominance in most of the autoimmune disorders that associate with the PTPN22 Trp620 variant and the complexity by which this variant influences immunologic tolerance, the objective of this study was to ascertain if the allele-specific expression of the disease-associated Arg620Trp polymorphism is affected by cis-acting or sex-specific trans-acting factor/s (e.g. sex-hormones). 17230194

2007

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The PTPN22 1858C/T polymorphism has been associated with several autoimmune diseases including rheumatoid arthritis (RA). 17553139

2007

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Its +1858C>T (R620W) polymorphism has been shown to associate with a risk for multiple autoimmune diseases, including type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA). 17000021

2007

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The 1858C/T variant in PTPN22 imparts a gain of function mutation dysregulating T-cell stimulation and is associated with an array of autoimmune diseases. 17034023

2007