Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 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
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 GeneticVariation disease BEFREE Associations of STAT4 rs7574865 G/T and PTPN22 (rs2488457 G/C and rs2476601 C/T) polymorphisms with JIA have repeatedly been replicated in several Caucasian populations. 25781893 2015
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 Biomarker disease BEFREE SNPs in or near PTPN22, VTCN1, the IL2-IL21 region, ANKRD55 and TNFA were confirmed to be associated with JIA (p<0.05), strengthening the evidence for involvement of these genes in JIA. 25057181 2015
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 GeneticVariation disease BEFREE HLA class II, PTPN22, STAT4) are shared with other common autoimmune conditions; other novel polymorphisms that have been identified may be unique to JIA. 26305060 2015
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 GeneticVariation disease BEFREE A single nucleotide polymorphism of PTPN22, 1858C>T (rs2476601), disrupts an interaction motif in the protein, and is the most important non-HLA genetic risk factor for rheumatoid arthritis and the second most important for juvenile idiopathic arthritis. 25003765 2014
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 GeneticVariation disease BEFREE This study demonstrated for the first time in a Greek population that the PTPN22, TRAF1/C5 and CD247 polymorphisms examined are associated with an increased susceptibility to JIA, thus suggesting that the respective risk alleles may confer susceptibility to clinically distinct disorders. 23777930 2013
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 GeneticVariation disease BEFREE We confirmed association of 3 known JIA risk loci (the human leukocyte antigen (HLA) region, PTPN22 and PTPN2) and identified 14 loci reaching genome-wide significance (P < 5 × 10(-8)) for the first time. 23603761 2013
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 GeneticVariation disease BEFREE This meta-analysis confirms that the PTPN22 1858 C/T polymorphism is associated with JIA susceptibility in Europeans and shows that the MIF -173 C/G polymorphism may be associated with susceptibility to JIA. 22327470 2012
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 Biomarker disease BEFREE The strategy of using information from these studies has facilitated the identification of novel juvenile idiopathic arthritis (JIA) susceptibility loci, specifically, PTPN22 and IL2RA. 20072139 2010
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 GeneticVariation disease BEFREE In juvenile idiopathic arthritis (JIA), another complex genetic autoimmune disease, the strategy of using information from autoimmune disease GWAS or candidate gene studies to help in the search for novel JIA susceptibility loci has been successful, with confirmed association with two genes, PTPN22 and IL2RA. 19674979 2010
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 Biomarker disease BEFREE Two well-established genetic factors known to contribute to JIA susceptibility, HLA and PTPN22, account for less than half of the genetic susceptibility to disease; therefore, additional genetic factors have yet to be identified. 19116933 2009
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 GeneticVariation disease BEFREE However, C1858T polymorphism of PTPN22, another candidate gene of autoimmunity seems to be independent of JIA in Hungarian patients. 19210888 2009
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 GeneticVariation disease BEFREE We aimed to analyse the association of three PTPN22 polymorphisms in two distinct Caucasian populations, the Czechs (with T1D and with JIA) and Azeri (with T1D). 17000021 2007
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 GeneticVariation disease BEFREE The discovery that a single-nucleotide polymorphism (SNP) in lymphoid tyrosine phosphatase (LYP), encoded by the PTPN22 gene, is associated with type 1 diabetes (T1D) has now been verified by numerous studies and has been expanded to rheumatoid arthritis, juvenile rheumatoid arthritis (JRA), systemic lupus erythematosus, Graves' disease, generalized vitiligo and other human autoimmune diseases. 17729039 2007
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 GeneticVariation disease BEFREE This meta-analysis demonstrates that the PTPN22 1858T allele confers susceptibility to RA, SLE, GD, T1D and JIA, supporting evidence of association of the PTPN22 gene with subgroup of autoimmune diseases. 16760194 2007
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 GeneticVariation disease LHGDN We aimed to analyse the association of three PTPN22 polymorphisms in two distinct Caucasian populations, the Czechs (with T1D and with JIA) and Azeri (with T1D). 17000021 2007
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 GeneticVariation disease BEFREE There was a significant association between the PTPN22 SNP and RA (P = 1.8 x 10(-8)) and JIA (P = 0.0005). 15934099 2005
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 GeneticVariation disease BEFREE Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases. 15759012 2005
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 Biomarker disease LHGDN There was a significant association between the PTPN22 SNP and RA (P = 1.8 x 10(-8)) and JIA (P = 0.0005). 15934099 2005
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.200 Biomarker disease HPO