Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11875687
rs11875687
PTPN2
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		C 0.800 GeneticVariation GWASCAT Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. 22057235

2011
dbSNP: rs12961799
rs12961799
PTPN2
CUI: C1305855
Disease: Body mass index
Body mass index 		C 0.700 GeneticVariation GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127

2018
dbSNP: rs12967678
rs12967678
PTPN2
CUI: C4049006
Disease: Selective immunoglobulin A deficiency
Selective immunoglobulin A deficiency 		0.700 GeneticVariation GWASCAT Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016
dbSNP: rs12967678
rs12967678
PTPN2
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 GeneticVariation GWASCAT Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016
dbSNP: rs12968719
rs12968719
PTPN2
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016
dbSNP: rs12968719
rs12968719
PTPN2
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016
dbSNP: rs12968719
rs12968719
PTPN2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016
dbSNP: rs12968719
rs12968719
PTPN2
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016
dbSNP: rs12968719
rs12968719
PTPN2
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs12968719
rs12968719
PTPN2
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016
dbSNP: rs149850873
rs149850873
PTPN2
CUI: C1858558
Disease: Rheumatoid Arthritis, Systemic Juvenile
Rheumatoid Arthritis, Systemic Juvenile 		0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761

2013
dbSNP: rs149850873
rs149850873
PTPN2
CUI: C1384600
Disease: Systemic onset juvenile chronic arthritis
Systemic onset juvenile chronic arthritis 		0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761

2013
dbSNP: rs149850873
rs149850873
PTPN2
CUI: C3898105
Disease: Oligoarticular Juvenile Idiopathic Arthritis
Oligoarticular Juvenile Idiopathic Arthritis 		0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761

2013
dbSNP: rs149850873
rs149850873
PTPN2
CUI: C2931171
Disease: Juvenile pauciarticular chronic arthritis
Juvenile pauciarticular chronic arthritis 		0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761

2013
dbSNP: rs149850873
rs149850873
PTPN2
CUI: C3890205
Disease: Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative 		0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761

2013
dbSNP: rs149850873
rs149850873
PTPN2
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. 23603761

2013
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		G 0.850 GeneticVariation GWASCAT Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463

2010
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		G 0.850 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919

2015
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		G 0.830 GeneticVariation GWASCAT Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. 25751624

2015
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.830 GeneticVariation GWASCAT Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480

2009
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		G 0.810 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919

2015
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.810 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		G 0.810 GeneticVariation GWASCAT Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233

2012
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		G 0.810 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967

2011
dbSNP: rs1893217
rs1893217
PTPN2
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		G 0.800 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967

2011