Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		A 0.900 GeneticVariation GWASCAT Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		A 0.900 GeneticVariation GWASCAT A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. 19838195

2009
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0042900
Disease: Vitiligo
Vitiligo 		A 0.860 GeneticVariation GWASCAT Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. 27723757

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.860 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.860 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919

2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0042900
Disease: Vitiligo
Vitiligo 		A 0.860 GeneticVariation GWASCAT Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. 20410501

2010
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		G 0.860 GeneticVariation GWASCAT Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463

2010
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		G 0.860 GeneticVariation GWASCAT Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 18587394

2008
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		A 0.850 GeneticVariation GWASCAT Seven newly identified loci for autoimmune thyroid disease. 22922229

2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.800 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.800 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		A 0.800 GeneticVariation GWASCAT Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.760 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.740 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		A 0.740 GeneticVariation GWASCAT Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. 25608926

2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.730 GeneticVariation GWASCAT First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes. 30254083

2018
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.730 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		A 0.720 GeneticVariation GWASCAT Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. 25936594

2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		A 0.720 GeneticVariation GWASCAT Seven newly identified loci for autoimmune thyroid disease. 22922229

2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C1739108
Disease: Latent Autoimmune Diabetes in Adults
Latent Autoimmune Diabetes in Adults 		0.710 GeneticVariation GWASCAT First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes. 30254083

2018
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0085655
Disease: Polymyositis
Polymyositis 		A 0.710 GeneticVariation GWASCAT Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups. 26362759

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.710 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		G 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203

2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0027121
Disease: Myositis
Myositis 		0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		G 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203

2019