DOCK8, dedicator of cytokinesis 8, 81704

N. diseases: 112; N. variants: 24
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4722305
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Clinically focused exome sequencing identifies an homozygous mutation that confers DOCK8 deficiency. 26235511 2016
CUI: C4722305
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Combined immunodeficiency associated with DOCK8 mutations. 19776401 2009
CUI: C4722305
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease CLINVAR Combined immunodeficiency associated with DOCK8 mutations. 19776401 2009
CUI: C4722305
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Combined immunodeficiency associated with DOCK8 mutations. 19776401 2009
CUI: C4722305
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease CLINVAR Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. 14722525 2004
CUI: C4722305
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 GermlineCausalMutation disease ORPHANET
CUI: C4722305
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR