Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.140 GeneticVariation disease GWASDB Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. 20639880 2010
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.140 GeneticVariation disease GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000 2012
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.140 GeneticVariation disease GWASDB Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.140 GeneticVariation disease GWASDB Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants. 22936693 2012
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.140 GeneticVariation disease GWASDB Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. 19458352 2009
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.110 GeneticVariation disease GWASDB A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. 23740937 2013
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		0.010 AlteredExpression disease LHGDN Here we show that the IL-12Rb2 gene is not expressed in EBV-transformed normal B-lymphocytes and in Burkitt's lymphoma B-cell lines. 11940489 2002
CUI: C0011603
Disease: Dermatitis
Dermatitis 		0.010 GeneticVariation disease LHGDN SNPs that mapped to two genes, ABCA1 and IL12RB2, were associated with radiation-induced dermatitis. 18927311 2008
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 Biomarker disease LHGDN Thus, IL-12R beta 2 directly restrains MM cell growth, and targeting of IL-12 to tumor cells holds promise as new therapeutic strategy. 18474725 2008
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis 		0.010 GeneticVariation disease LHGDN The frequencies of variant alleles of IL12RB2 were significantly higher in aggressive periodontitis patients as compared with healthy controls or chronic periodontitis patients. 18353079 2008
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		0.010 GeneticVariation disease LHGDN The frequencies of variant alleles of IL12RB2 were significantly higher in aggressive periodontitis patients as compared with healthy controls or chronic periodontitis patients. 18353079 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 GeneticVariation group LHGDN IL12RB2 and ABCA1 genes are associated with susceptibility to radiation dermatitis. 18927311 2008
CUI: C3714514
Disease: Infection
Infection 		0.010 AlteredExpression group LHGDN A role for IL-12 receptor expression and signal transduction in host defense in leprosy. 11441083 2001
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.140 GeneticVariation disease GWASCAT Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. 19458352 2009
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.140 GeneticVariation disease GWASCAT Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. 20639880 2010
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.140 GeneticVariation disease GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269 2015
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.140 GeneticVariation disease GWASCAT Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.140 GeneticVariation disease GWASCAT Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.110 GeneticVariation disease GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.110 GeneticVariation disease GWASCAT A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. 19838195 2009
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.110 GeneticVariation disease GWASCAT Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. 26502338 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.110 GeneticVariation disease GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.110 GeneticVariation disease GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.110 GeneticVariation disease GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.110 GeneticVariation disease GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989 2019