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 Biomarker disease BEFREE CONCLUSION: Our data show an increased sensitivity of PBC and pSS Treg cells to low dose IL-12 stimulation, providing ongoing support for the importance of the IL12-IL-12Rβ2-STAT4 pathway on Treg cells in disease pathogenesis and potentially treatment. 30119881 2018
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.140 GeneticVariation disease BEFREE Polymorphisms of IL12RB2 May Affect the Natural History of Primary Biliary Cholangitis: A Single Centre Study. 28299343 2017
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 BEFREE Variants originally associated with juvenile idiopathic arthritis (VTCN1 gene), sarcoidosis (ANXA11 gene), primary biliary cirrhosis (IL12RB2 gene) and celiac disease (LPP gene) were not associated with type 1 diabetes in our dataset. 23152861 2012
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 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 GWASCAT 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 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 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 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 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 GWASDB 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 BEFREE Our data show significant associations between primary biliary cirrhosis and common genetic variants at the HLA class II, IL12A, and IL12RB2 loci and suggest that the interleukin-12 immunoregulatory signaling axis is relevant to the pathophysiology of primary biliary cirrhosis. 19458352 2009
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 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
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.110 AlteredExpression disease BEFREE IL-35R subunits, gp130 and IL-27Rα, but not IL-12Rβ2, were expressed in B cells extracted from the synovium and periphery of patients with RA/OA. 29247146 2018
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.110 GeneticVariation disease GWASCAT Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations. 29293537 2018
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 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 Biomarker disease BEFREE The results supported the theory that IL12RB2 is associated with SLE in the Chinese population. 25720506 2015
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: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.110 GeneticVariation disease BEFREE Aiming to reveal the possible implication of the IL12RB2 gene in SSc, we conducted a follow-up study of this locus in different Caucasian cohorts. 22076442 2012