DDX59, DEAD-box helicase 59, 83479

N. diseases: 42; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868118
Disease: Orofaciodigital syndrome 5
Orofaciodigital syndrome 5 		0.700 Biomarker disease GENOMICS_ENGLAND Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. 30914295 2019
CUI: C1868118
Disease: Orofaciodigital syndrome 5
Orofaciodigital syndrome 5 		0.700 Biomarker disease GENOMICS_ENGLAND A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function. 29127725 2018
CUI: C1868118
Disease: Orofaciodigital syndrome 5
Orofaciodigital syndrome 5 		0.700 Biomarker disease GENOMICS_ENGLAND Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families. 28711741 2017
CUI: C1868118
Disease: Orofaciodigital syndrome 5
Orofaciodigital syndrome 5 		0.700 Biomarker disease GENOMICS_ENGLAND Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families. 28711741 2017
CUI: C1868118
Disease: Orofaciodigital syndrome 5
Orofaciodigital syndrome 5 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. 23972372 2013
CUI: C1868118
Disease: Orofaciodigital syndrome 5
Orofaciodigital syndrome 5 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. 23972372 2013
CUI: C1868118
Disease: Orofaciodigital syndrome 5
Orofaciodigital syndrome 5 		0.700 GeneticVariation disease UNIPROT Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. 23972372 2013
CUI: C1868118
Disease: Orofaciodigital syndrome 5
Orofaciodigital syndrome 5 		0.700 GermlineCausalMutation disease ORPHANET Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. 23972372 2013
CUI: C1868118
Disease: Orofaciodigital syndrome 5
Orofaciodigital syndrome 5 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. 23972372 2013
CUI: C1868118
Disease: Orofaciodigital syndrome 5
Orofaciodigital syndrome 5 		0.700 CausalMutation disease CLINVAR
CUI: C1868118
Disease: Orofaciodigital syndrome 5
Orofaciodigital syndrome 5 		0.700 Biomarker disease CTD_human
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.320 GeneticVariation disease BEFREE It is only the third reported DDX59 mutation associated with OFDS reported so far. 28711741 2017
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.320 Biomarker disease GENOMICS_ENGLAND Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. 23972372 2013
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.320 GeneticVariation disease BEFREE Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. 23972372 2013
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. 23972372 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 GeneticVariation disease BEFREE We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with orofaciodigital syndrome phenotype associated with a broad neurological involvement characterized by microcephaly, intellectual disability, epilepsy, and white matter signal abnormalities associated with cortical and subcortical ischemic events. 29127725 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		0.100 Biomarker disease HPO
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.100 Biomarker disease HPO
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary 		0.100 Biomarker phenotype HPO