Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE PTPN22 rs2476601 is associated with JIA and numerous other autoimmune diseases, and has been reported to show female-specific association with type 1 diabetes. 26291515 2015
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE The aim of this study was to evaluate the role of PTPN22, CTLA4, and IFIH1 gene variants in the development of T1D in a Colombian population. 25042601 2015
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE Moreover, there were no significant differences between studied parameters (including gender, age at onset and family history of T1D) and different genotypes of 1858 PTPN22 C/T polymorphisms in patients. 25243643 2015
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE Previous studies of isolated T1D and of T1D combined with other autoimmune disorders showed genetic susceptibility for alleles in HLA-DQB1 and -DRB1 and also CTLA4 and PTPN22. 26405068 2015
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE The most significant association was with two T1D SNPs, rs12150079 (ZPBP2/ORMDL3/GSDMB region) (enterovirus frequency: AA 7.3%, AG 8.7%, GG 9.7%, RR = 0.86, overall p = 1.87E-02) and rs229541 (C1QTNF6/SSTR3/RAC2) (enterovirus frequency: CC 7.8%, CT 9.7%, TT 9.4%, RR = 1.13, overall p = 3.6E-02), followed by TLR8 (rs2407992) (p = 3.8E-02), TLR3 (1914926) (p = 4.9E-02), and two other T1D SNPs (IFIH1 rs3747517, p = 4.9E-02 and PTPN22, rs2476601, p = 5.3E-02). 26485223 2015
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE Among the non-HLA SNPs reported by the Type 1 Diabetes Genetics Consortium, 24% were supported in this Swedish replication set including that the increased risk of minor PTPN22 allele and high-risk HLA was modified by GAD65 autoantibodies. 26513234 2015
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 Biomarker disease BEFREE The absence of autoimmunity-associated PTPN22 alleles was also demonstrated in latent autoimmune diabetes in adults, which suggests that the slow kinetics of the onset of autoantibodies is subject to a regulation that is different from that experienced in type 1 diabetes and other autoimmune disorders. 25896041 2015
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease GWASCAT Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. 25751624 2015
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE The PTPN22 gene variants were associated with T1D susceptibility and APSIII [odds ratio (OR) = 2.57 and 2.77, respectively]. 26782543 2015
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE Type 1 diabetes mellitus. Comparison between the association with PTPN22 genotype and the association with ACP1-ADA1 joint genotype. 25125338 2014
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE The single nucleotide polymorphism, rs1217419, located in the second intron of the PTPN22 gene was associated with Type 1 diabetes (odds ratio 1.5, 95% CI 1.14-1.97, P = 0.003). 24117662 2014
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE The results suggest that the PTPN22+1858T allele is positively associated with T1D in the North Indian population. 24913133 2014
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE Among the genetic variants associated with type 1 diabetes, the C1858T (Lyp) polymorphism of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene alters the function of T cells but also of B cells in innate and adaptive immunity. 25333705 2014
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 Biomarker disease BEFREE These results confirm the involvement of PTPN22 and CD28 genes in the genetic susceptibility to T1D. 24103478 2014
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE We confirmed a homozygous (TT) variant of protein tyrosine phosphatase nonreceptor type 22 (PTPN22) 1858T, a T1D susceptibility gene associated with higher proinsulin levels. 23337153 2014
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE Human genetics studies have shown that a single-nucleotide polymorphism in PTPN22 is often mutated in patients suffering from autoimmune diseases such as type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosis. 24188455 2014
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE This meta-analysis of TDT confirms that the PTPN22 C1858T polymorphism is associated with T1D susceptibility in Europeans. 23054006 2013
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease 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
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 Biomarker disease BEFREE This work represents, to the best of our knowledge, the first study based on both case-control and family data sets, showing the joint effect of HLA, INS and PTPN22 in a T1D Caucasian population with a wide range of age at T1D onset, adding new insights to previous findings regarding data sets consisting of patients and controls <15 years at onset. 24260237 2013
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE The PTPN22 1858T allele but not variants in the proximal promoter region of IL-21 gene is associated with the susceptibility to type 1 diabetes and the presence of autoantibodies in a Brazilian cohort. 23480181 2013
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE Polymorphisms in PTPN22 are associated with several autoimmune diseases, such as systemic lupus erythematosus, rheumatoid arthritis and type 1 diabetes. 24269925 2013
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE In conclusion, this meta-analysis suggests that C1858T polymorphism in PTPN22 is associated with elevated T1D risk among Caucasian population. 23291413 2013
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE A variable degree of autoimmunity in the pedigree of a patient with type 1 diabetes homozygous for the PTPN22 1858T variant. 22809281 2013
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE Autoantibodies to insulin (IAA), GAD (GADA), insulinoma-associated antigen-2 (IA-2A) and zinc transporter 8 (ZnT8A) were measured in follow-up sera, and genotyping for type 1 diabetes susceptibility genes (HLA-DR/HLA-DQ, INS variable number of tandem repeats [VNTR] and single nucleotide polymorphisms at PTPN22, PTPN2, ERBB3, IL2, SH2B3, CTLA4, IFIH1, KIAA0350 [also known as CLEC16A], CD25, IL18RAP, IL10, COBL) was performed on the DNA samples of children born to a parent with type 1 diabetes and prospectively followed from birth for up to 22 years. 23539116 2013
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE The meta-analysis results suggest that the PTPN22 C1858T polymorphism was associated with susceptibility to T1D among the Caucasian population, and males who carried the -1858T allele were more susceptible to T1D than females. 23438410 2013