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: 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