DDX59, DEAD-box helicase 59, 83479

N. diseases: 42; N. variants: 2
Disease: Orofaciodigital syndrome 5 ×
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