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: C4016741
Disease: IMMUNODEFICIENCY 32B
IMMUNODEFICIENCY 32B 		0.700 Biomarker disease CTD_human Biallelic mutations in IRF8 impair human NK cell maturation and function. 27893462 2017
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: C3808589
Disease: IMMUNODEFICIENCY 32A
IMMUNODEFICIENCY 32A 		0.700 GeneticVariation disease UNIPROT IRF8 mutations and human dendritic-cell immunodeficiency. 21524210 2011
CUI: C3808589
Disease: IMMUNODEFICIENCY 32A
IMMUNODEFICIENCY 32A 		0.700 Biomarker disease GENOMICS_ENGLAND Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus. 22046141 2011
CUI: C4016741
Disease: IMMUNODEFICIENCY 32B
IMMUNODEFICIENCY 32B 		0.700 Biomarker disease GENOMICS_ENGLAND Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus. 22046141 2011
CUI: C4016741
Disease: IMMUNODEFICIENCY 32B
IMMUNODEFICIENCY 32B 		0.700 Biomarker disease CTD_human IRF8 mutations and human dendritic-cell immunodeficiency. 21524210 2011
CUI: C4016741
Disease: IMMUNODEFICIENCY 32B
IMMUNODEFICIENCY 32B 		0.700 GeneticVariation disease UNIPROT IRF8 mutations and human dendritic-cell immunodeficiency. 21524210 2011
CUI: C3808589
Disease: IMMUNODEFICIENCY 32A
IMMUNODEFICIENCY 32A 		0.700 Biomarker disease CTD_human
CUI: C3808589
Disease: IMMUNODEFICIENCY 32A
IMMUNODEFICIENCY 32A 		0.700 CausalMutation disease CLINVAR
CUI: C3808589
Disease: IMMUNODEFICIENCY 32A
IMMUNODEFICIENCY 32A 		0.700 GermlineCausalMutation disease ORPHANET
CUI: C4016741
Disease: IMMUNODEFICIENCY 32B
IMMUNODEFICIENCY 32B 		0.700 CausalMutation disease CLINVAR
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.400 Biomarker disease BEFREE The study suggests that genetic variants inGPC5, CD58 and IRF8 genes may be of clinical interest in MS as predictors of age of onset and response to therapy. 30818222 2019
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: 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 AlteredExpression disease BEFREE In summary, IRF8 rs17445836G is associated with human autoimmune disease characterized by low-type I IFN levels, and this may have pharmacogenetic relevance as type I IFN is modulated in SLE and MS. 23965942 2013
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 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 Biomarker disease BEFREE Variants in TNFRSF1A and in the vicinity of IRF8 were confirmed to be associated in these independent cohorts, which supports the role of these loci in etiology of multiple sclerosis. 21552549 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.400 Biomarker disease BEFREE TNFRSF1A, CD6 and IRF8, as novel risk factors for multiple sclerosis with genome-wide level of significance. 20430450 2010
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.400 Biomarker disease CTD_human We also report that the susceptibility allele near IRF8, which encodes a transcription factor known to function in type I interferon signaling, is associated with higher mRNA expression of interferon-response pathway genes in subjects with MS. 19525953 2009
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.400 AlteredExpression disease BEFREE We also report that the susceptibility allele near IRF8, which encodes a transcription factor known to function in type I interferon signaling, is associated with higher mRNA expression of interferon-response pathway genes in subjects with MS. 19525953 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 Biomarker disease BEFREE These findings identify IRF8 as a novel tumor suppressor regulating IFN-γ/STAT1 signaling and β-catenin signaling in breast cancer. 28388578 2017
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.320 Biomarker disease BEFREE Two DLBCL cell lines (OCI-LY10 and OCI-LY1) with IRF8 knockdown or overexpression and two human B lymphoblast cell lines were co-cultured with peripheral blood mononuclear cells (PBMCs) in vitro to determine the effect of IRF8 on the generation of Th17 cells. 28537908 2017
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.320 AlteredExpression disease BEFREE Subsequent screening for IRF8 by immunohistochemistry revealed IRF8 expression in 18/78 (23%), correlating with a germinal center B-cell-like (GCB) type of DLBCL. 23573829 2014