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: 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: C4016741
Disease: IMMUNODEFICIENCY 32B
IMMUNODEFICIENCY 32B
0.700 CausalMutation disease CLINVAR