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 Altered B cell homeostasis is associated with type I diabetes and carriers of the PTPN22 allelic variant. 22105996 2012
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE This significant haplotype distribution difference suggests that polymorphisms in the PTPN22 gene other than R620W are involved in either predisposition to or protection from T1D in the Japanese population. 20510318 2010
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE A functional single nucleotide polymorphism, 1858C>T, in the PTPN22 gene, encoding a tyrosine phosphatase, has been reported to be associated with type I diabetes and some other autoimmune diseases. 15759012 2005
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE A recent study of T1D cases and controls provided evidence for association between an allele of a functional single-nucleotide polymorphism (SNP) in the PTPN22 gene and T1D. 15526003 2004
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE Pancreatic autoantibodies, HLA DR and PTPN22 polymorphisms in first degree relatives of patients with type 1 diabetes and multiethnic background. 22068554 2011
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 GeneticVariation disease BEFREE Additionally, we show that T1D risk alleles residing at the PTPN22, IL27, IL18RAP and IL10 loci protect against CD. 20176734 2010
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE A single-nucleotide polymorphism in the PTPN22 gene encoding the lymphoid protein tyrosine phosphatase (Lyp) has recently been identified as a functional variant associated with susceptibility to rheumatoid arthritis (RA), type 1 diabetes, and systemic lupus erythematosus. 15986374 2005
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 A variant (R620W) of PTPN22 was associated with type 1 diabetes and other autoimmune diseases in Caucasians, but the variant was absent in Asians. 17452059 2007
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE This is the first report demonstrating enhanced T1D in a mouse modeling human PTPN22(R620W) and the utility of CRISPR-Cas9 for direct genetic alternation of NOD mice. 27207523 2016
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 Children of parents with type 1 diabetes and prospectively followed from birth for the development of islet autoantibodies and diabetes were genotyped for single-nucleotide polymorphisms at 12 type 1 diabetes susceptibility genes (ERBB3, PTPN2, IFIH1, PTPN22, KIAA0350, CD25, CTLA4, SH2B3, IL2, IL18RAP, IL10 and COBL). 22932816 2012
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE A significant association was detected between the variant genotype of the PTPN22 gene (C1858T, rs2476601) and T1DM in Kuwaiti Arabs. 29924845 2018
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE Given the modest odds ratios of known risk alleles for inflammatory diseases, these analyses do not exclude a role for the PTPN22 allele in susceptibility to CD or MS, but they do suggest that such a putative role would probably be more modest than that reported so far in T1D, RA, SLE, and AIT. 16391555 2006
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE We hypothesize that the altered T-cell function because of the PTPN22(1858C>T) polymorphism is exclusively associated with GADA-positive T1D at diagnosis. 20445565 2010
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE The PTPN22 T1858 allele appeared significantly increased in T1DM compared to the control group (P=0.004), yielding an OR of 1.73 (95% CI 1.19-2.51). 20518841 2010
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545 2007
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE The PTPN22 1858T allele was strongly associated with progression to T1D after the appearance of the first biochemically defined β-cell autoantibody (hazard ratio 1.68 [95% CI 1.09-2.60], P = 0.02 Cox regression analysis, multivariate test), and the effect remained similar when analyzed after the appearance of the second autoantibody (P = 0.013), whereas INS-23 HphI AA genotype was not associated with progression to clinical diabetes after the appearance of the first or second autoantibody (P = 0.38 and P = 0.88, respectively). 22357962 2012
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE The objective was to assess whether the relative risk for type 1 diabetes conferred by established susceptibility loci human leukocyte antigen (HLA)-DQ, INS, and PTPN22 differed depending on these perinatal factors. 21352425 2011
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE Our results indicate that genetic polymorphisms in the PTPN22 gene may increase the risk of T1DM in Chinese children and adolescents. 25729936 2015
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE The PTPN22 1858T gene variant in type 1 diabetes is associated with reduced residual beta-cell function and worse metabolic control. 18252906 2008
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.900 GeneticVariation disease BEFREE We conclude that PTPN22 1858T allele is an independent risk factor for type 1 diabetes and associated with younger age at the onset of the disease. 20438787 2010