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: C3808589
Disease: IMMUNODEFICIENCY 32A
IMMUNODEFICIENCY 32A 		0.700 GeneticVariation disease UNIPROT IRF8 mutations and human dendritic-cell immunodeficiency. 21524210 2011
CUI: C4016741
Disease: IMMUNODEFICIENCY 32B
IMMUNODEFICIENCY 32B 		0.700 GeneticVariation disease UNIPROT Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation. 25122610 2014
CUI: C4016741
Disease: IMMUNODEFICIENCY 32B
IMMUNODEFICIENCY 32B 		0.700 GeneticVariation disease UNIPROT IRF8 mutations and human dendritic-cell immunodeficiency. 21524210 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.400 GeneticVariation disease BEFREE We analysed whether SNPs in the IRF5, IRF8 and GPC5 genes are associated with clinical disease activity in MS patients beginning de novo treatment with IFN-β. 24943672 2014
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.400 GeneticVariation disease BEFREE Recently, genetic variation in the IRF8 gene has been associated with SLE and multiple sclerosis, and studies support an impact of IRF8 genotype on the IFN-α pathway. 21575916 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.400 GeneticVariation disease BEFREE However, there was no association of IRF8 polymorphisms with IDD, including MS and NMO. 22994200 2013
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.400 GeneticVariation disease BEFREE Moreover, we identified one SNP located in the PHDGH gene and another on IRF8 gene that were associated with MP2K1 phosphorylation levels, providing a first clue on how this MS risk gene may act. 31004050 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.400 GeneticVariation disease BEFREE The genetic variant of the INF regulatory factor 8 (IRF8), a type 1 INF regulator, is associated with susceptibility to systemic lupus erythematosus and multiple sclerosis. 25989711 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 GeneticVariation disease UNIPROT
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.120 GeneticVariation group BEFREE Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation. 29128673 2018
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.110 GeneticVariation disease GWASDB Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. 23770605 2013
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.110 GeneticVariation disease GWASCAT A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. 24292274 2014
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.110 GeneticVariation disease GWASDB Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL. 21131588 2011
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.110 GeneticVariation disease GWASDB A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. 24292274 2014
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.110 GeneticVariation disease GWASCAT Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL. 21131588 2011
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.110 GeneticVariation disease BEFREE We provide evidence that rs1044873 in the IRF8 gene accounts for the initial GWAS signal for CLL risk. 23307532 2013
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.110 GeneticVariation disease GWASDB Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia. 22700719 2012
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.100 GeneticVariation disease BEFREE Mutations and loss of expression of the human IRF8 gene are also associated with immunodeficiency and CML, respectively. 25749660 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 GeneticVariation disease BEFREE Coronary heart disease in systemic lupus erythematosus is associated with interferon regulatory factor-8 gene variants. 23661672 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 GeneticVariation disease BEFREE Overall, results from GAPAID project are consistent with previously established associations for HLA, IRF5, BLK, ITGAM, and IRF8 SLE susceptibility loci and report for the first time two subphenotype-specific associations. 27021335 2016
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 GeneticVariation disease BEFREE The genetic variant of the INF regulatory factor 8 (IRF8), a type 1 INF regulator, is associated with susceptibility to systemic lupus erythematosus and multiple sclerosis. 25989711 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 GeneticVariation disease BEFREE Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study. 22464253 2012
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 GeneticVariation disease BEFREE Recently, genetic variation in the IRF8 gene has been associated with SLE and multiple sclerosis, and studies support an impact of IRF8 genotype on the IFN-α pathway. 21575916 2011
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 GeneticVariation disease BEFREE This replication effort confirmed five reported SLE susceptibility loci reaching genome-wide levels of significance (P(meta) <5.00 × 10(-08)): TNFSF4 (rs1418190, odds ratio (OR) = 0.81, P(meta) = 1.08 × 10(-08); rs4916219, OR = 0.80, P(meta )= 7.77 × 10(-09)), IRF8 (rs2934498, OR = 1.25, P(meta) = 4.97 × 10(-09)), miR-146a (rs2431697, OR = 0.69, P(meta) = 1.15 × 10(-22)), CD44 (rs2732547, OR = 0.82, P(meta) = 1.55 × 10(-11)), and TMEM39A (rs12494314, OR = 0.84, P(meta) = 1.01 × 10(-09)). 25890262 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 GeneticVariation disease BEFREE Our study indicated that the IRF8 gene polymorphisms might be associated with susceptibility to SLE and with disease-related clinical manifestations in Chinese Han population. 24034601 2014