DDX59, DEAD-box helicase 59, 83479

N. diseases: 42; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777067
rs587777067
Entrez Id: 83479
Gene Symbol: DDX59
DDX59
CUI: C1868118
Disease:
Orofaciodigital syndrome 5 		0.800 GeneticVariation UNIPROT Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. 23972372 2013
dbSNP: rs886037652
rs886037652
Entrez Id: 83479
Gene Symbol: DDX59
DDX59
CUI: C1868118
Disease:
Orofaciodigital syndrome 5 		0.800 GeneticVariation UNIPROT Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. 23972372 2013
dbSNP: rs587777067
rs587777067
Entrez Id: 83479
Gene Symbol: DDX59
DDX59
CUI: C1868118
Disease:
Orofaciodigital syndrome 5 		C 0.800 CausalMutation CLINVAR
dbSNP: rs886037652
rs886037652
Entrez Id: 83479
Gene Symbol: DDX59
DDX59
CUI: C1868118
Disease:
Orofaciodigital syndrome 5 		T 0.800 CausalMutation CLINVAR