rs397514710, IRF8

N. diseases: 1
Disease: IMMUNODEFICIENCY 32B ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
IMMUNODEFICIENCY 32B
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
IMMUNODEFICIENCY 32B
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
IMMUNODEFICIENCY 32B
CUI: C4016741
Disease: IMMUNODEFICIENCY 32B
0.810 GeneticVariation UNIPROT IRF8 mutations and human dendritic-cell immunodeficiency. 21524210 2011
IMMUNODEFICIENCY 32B
CUI: C4016741
Disease: IMMUNODEFICIENCY 32B
0.810 CausalMutation CLINVAR