IRF8, interferon regulatory factor 8, 3394

N. diseases: 149; N. variants: 20
Disease: IMMUNODEFICIENCY 32B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514710
rs397514710
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C4016741
Disease:
IMMUNODEFICIENCY 32B 		0.810 GeneticVariation UNIPROT Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation. 25122610 2014
dbSNP: rs397514710
rs397514710
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C4016741
Disease:
IMMUNODEFICIENCY 32B 		0.810 GeneticVariation BEFREE Autosomal recessive IRF8 deficiency is caused by mutation K108E and associated with severe disease with complete depletion of monocytes and dendritic cells. 23468103 2013
dbSNP: rs397514710
rs397514710
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C4016741
Disease:
IMMUNODEFICIENCY 32B 		0.810 GeneticVariation UNIPROT IRF8 mutations and human dendritic-cell immunodeficiency. 21524210 2011
dbSNP: rs397514710
rs397514710
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C4016741
Disease:
IMMUNODEFICIENCY 32B 		G 0.810 CausalMutation CLINVAR
dbSNP: rs774835569
rs774835569
Entrez Id: 3394;102466732
Gene Symbol: IRF8;MIR6774
IRF8;MIR6774
CUI: C4016741
Disease:
IMMUNODEFICIENCY 32B 		T 0.700 CausalMutation CLINVAR