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: 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: 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: C0027121
Disease: Myositis
Myositis 		A 0.700 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: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		A 0.900 GeneticVariation GWASCAT Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. 26502338

2015
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: 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: 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: 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: 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: 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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		1.000 GeneticVariation GWASCAT A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus. 27193031

2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.900 GeneticVariation GWASCAT A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus. 27193031

2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.900 GeneticVariation GWASCAT Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. 27399966

2016
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: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		A 0.900 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469

2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		A 0.700 GeneticVariation GWASCAT Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma. 30194254

2018
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: 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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		A 1.000 GeneticVariation GWASCAT Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. 30423114

2019