IRF8, interferon regulatory factor 8, 3394

N. diseases: 149; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.100 GeneticVariation disease BEFREE Association analysis in the UK dataset and subsequent meta-analysis with the published data identified five SLE susceptibility genes reaching genome-wide levels of significance (P(comb)<5×10(-8)): NCF2 (P(comb) = 2.87×10(-11)), IKZF1 (P(comb) = 2.33×10(-9)), IRF8 (P(comb) = 1.24×10(-8)), IFIH1 (P(comb) = 1.63×10(-8)), and TYK2 (P(comb) = 3.88×10(-8)). 22046141 2011
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome
0.100 GeneticVariation disease GWASDB Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis. 22446961 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Using this novel approach, we determined the methylation status of several established and candidate tumor suppressor genes and identified the ICSBP gene, encoding the myeloid and B-cell-specific transcription factor interferon consensus sequence-binding protein, as a target for aberrant hypermethylation in acute myeloid leukemia. 16822855 2006
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer
0.100 GeneticVariation disease GWASCAT Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci. 30837455 2019
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
0.100 GeneticVariation phenotype GWASCAT Genetic variation associated with circulating monocyte count in the eMERGE Network. 23314186 2013
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction
0.100 GeneticVariation disease GWASDB Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort. 22704111 2012
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
0.100 GeneticVariation phenotype GWASCAT Genetic variation associated with circulating monocyte count in the eMERGE Network. 23314186 2013
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma
0.100 GeneticVariation disease GWASCAT A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. 24292274 2014
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma
0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL. 21131588 2011
CUI: C0857490
Disease: Granulocyte count
Granulocyte count
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.060 GeneticVariation disease BEFREE Surviving irf8 mutants quickly developed a myeloproliferative neoplasm (MPN)-like disease with enhanced output of the myeloid precursors, which recurred after transplantation. 28626217 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.050 GeneticVariation disease BEFREE In adult myeloid leukemias we found significant associations between the variant allele of PML_rs9479 and decreased AML risk (OR = 0.61 (0.38-0.97), and between variant alleles of IRF8_ rs10514611 and ARHGAP26_rs187729 and increased CML risk (OR = 2.4 (1.12-5.15) and 1.63 (1.07-2.47), respectively). 24886876 2014
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.030 GeneticVariation disease BEFREE Two SNPs near IRF8 were associated with BD (for rs17445836 GG genotype, Pc = 9.56 × 10(-8), OR = 2.044; for rs11642873 AA genotype, Pc = 9.24 × 10(-7), OR = 1.776). 26794091 2016
CUI: C0026918
Disease: Mycobacterium Infections
Mycobacterium Infections
0.030 GeneticVariation group BEFREE Moreover, IRF-8⁻/⁻ mice, relying on a common human and mouse genetic mutation linked to susceptibility/severity of mycobacterial diseases, represent a valuable model of acute TB for comparative studies with chronically-infected congenic WT-B6 for dissecting protective and pathological immune reactions. 23717393 2013
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.020 GeneticVariation disease BEFREE IRF8 deletion in DCs significantly reduces the development of atherosclerosis, predominantly in the aortic sinus, despite a modest increase in total plasma cholesterol levels. 29436389 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.020 GeneticVariation disease BEFREE IRF8 deletion in DCs significantly reduces the development of atherosclerosis, predominantly in the aortic sinus, despite a modest increase in total plasma cholesterol levels. 29436389 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.020 GeneticVariation disease BEFREE We find associations with the IRF8 region and the region containing CDH1 and CDH3, as well as substantial phenotypic and genetic heterogeneity for CD itself. 22152681 2011
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.020 GeneticVariation disease BEFREE Mapping of the IRF8 gene identifies a 3'UTR variant associated with risk of chronic lymphocytic leukemia but not other common non-Hodgkin lymphoma subtypes. 23307532 2013
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.020 GeneticVariation disease BEFREE An analysis of pleiotropic genes identified two new susceptibility genes for SSc (NF-κB and PLCL2) and confirmed the IRF8 locus. 25880423 2015
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.020 GeneticVariation disease BEFREE We also observed associations between SSc and rs6932056 in TNFAIP3 and rs2280381 in IRF8 (P = 0.0000095 and P = 0.0030, respectively), both of which displayed associations with SSc in a European population. 23124809 2013