Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.680 GeneticVariation disease BEFREE The single nucleotide polymorphism (SNP) rs1893217 within the gene locus encoding protein tyrosine phosphatase non-receptor type 2 (PTPN2) results in a dysfunctional PTPN2 protein is associated with Crohn's disease (CD) and exists in perfect linkage disequilibrium with the CD- and ulcerative colitis (UC)-associated PTPN2 SNP rs2542151. 26928573 2016
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.680 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.680 GeneticVariation disease GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.680 GeneticVariation disease BEFREE Though several polymorphisms have been identified in PTPN2, their roles in the incidence of UC and CD are conflicting. 24127071 2014
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.680 GeneticVariation disease BEFREE Epistasis analysis showed weak epistasis between the ATG16L1 SNP rs2241879 and PTPN2 SNP rs2542151 (p = 0.024) in CD and between ATG16L1 SNP rs4663396 and PTPN2 SNP rs7234029 (p = 4.68×10⁻³) in UC. 22457781 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.680 GeneticVariation disease BEFREE The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of UC and NOD2-P268S might be involved in the etiology of CD in the Chinese Han population. 22426692 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.680 AlteredExpression disease BEFREE A positive correlation was observed between mRNA expression of PTPN2 and NKX2-3 in B cells and in intestinal tissues from both CD and UC patients. 22377701 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.680 GeneticVariation disease BEFREE The single nucleotide polymorphism (SNP) rs2542151 within the gene locus region encoding protein tyrosine phosphatase non-receptor type 2 (PTPN2) has been associated with Crohn's disease (CD), ulcerative colitis (UC), type-I diabetes, and rheumatoid arthritis. 22021207 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.680 Biomarker disease BEFREE Though samples from patients with active ulcerative colitis (UC) revealed more PTPN2 protein than non-IBD patients and patients with UC in remission, their PTPN2 expression was lower than in active CD. 21115548 2011
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.680 GeneticVariation disease LHGDN Among these loci, we identified variants in 3p21.31, NKX2-3 and CCNY as susceptibility factors for both diseases, whereas variants in PTPN2, HERC2 and STAT3 were associated only with ulcerative colitis in our sample collection. 18438405 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.680 Biomarker disease CTD_human Among these loci, we identified variants in 3p21.31, NKX2-3 and CCNY as susceptibility factors for both diseases, whereas variants in PTPN2, HERC2 and STAT3 were associated only with ulcerative colitis in our sample collection. 18438405 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.680 GeneticVariation disease BEFREE Among these loci, we identified variants in 3p21.31, NKX2-3 and CCNY as susceptibility factors for both diseases, whereas variants in PTPN2, HERC2 and STAT3 were associated only with ulcerative colitis in our sample collection. 18438405 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.680 Biomarker disease GENOMICS_ENGLAND
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.500 AlteredExpression disease BEFREE Gene expression in <i>PTPN2/22</i> in CD subjects was significantly decreased by 2 folds compared to healthy controls (<i>P</i>-values < 0.05). 29456405 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.500 Biomarker disease BEFREE We hypothesized earlier that Single Nucleotide Polymorphisms (SNPs) in the negative regulators <i>Protein Tyrosine Phosphatase Non-receptor type 2 and 22</i> (<i>PTPN2/22)</i> lead to a dysregulated immune response, susceptibility to environmental triggers, and continued apoptosis as seen in chronic inflammation in RA and CD. 29423382 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.500 GeneticVariation disease GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.500 AlteredExpression disease BEFREE Non-coding single nucleotide polymorphisms that repress PTPN2 expression have been linked with the development of type 1 diabetes, rheumatoid arthritis and Crohn's disease. 27658548 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.500 GeneticVariation disease BEFREE The single nucleotide polymorphism (SNP) rs1893217 within the gene locus encoding protein tyrosine phosphatase non-receptor type 2 (PTPN2) results in a dysfunctional PTPN2 protein is associated with Crohn's disease (CD) and exists in perfect linkage disequilibrium with the CD- and ulcerative colitis (UC)-associated PTPN2 SNP rs2542151. 26928573 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.500 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.500 GeneticVariation disease GWASCAT Immunochip analysis identification of 6 additional susceptibility loci for Crohn's disease in Koreans. 25489960 2015
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.500 Biomarker disease BEFREE Our data demonstrate that dysfunction of PTPN2 results in aberrant T-cell differentiation and intestinal dysbiosis similar to those observed in human CD. 25492475 2015
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.500 GeneticVariation disease BEFREE The PTPN2 gene mutation in T1D patients play a direct role in the destruction of beta cells while in Crohn's disease patients, it modulates the innate immune responses. 26734582 2015
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.500 GeneticVariation disease BEFREE We confirmed 6 previously reported loci in Caucasian: GPR35 at 2q37 (rs3749172; P = 5.30 × 10, odds ratio [OR] = 1.45), ZNF365 at 10q21 (rs224143; P = 2.20 × 10, OR = 1.38), ZMIZ1 at 10q22 (rs1250569; P = 3.05 × 10, OR = 1.30), NKX2-3 at 10q24 (rs4409764; P = 7.93 × 10, OR = 1.32), PTPN2 at 18p11 (rs514000; P = 9.00 × 10, OR = 1.33), and USP25 at 21q11 (rs2823256; P = 2.49 × 10, OR = 1.35), bringing the number of known CD loci (including 3 in the HLA) in Koreans to 15. 25489960 2015
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.500 GeneticVariation disease GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.500 GeneticVariation disease BEFREE Though several polymorphisms have been identified in PTPN2, their roles in the incidence of UC and CD are conflicting. 24127071 2014