DDX3X, DEAD-box helicase 3 X-linked, 1654

N. diseases: 180; N. variants: 39
Disease: Multiple congenital anomalies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 28371085 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis. 25724843 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. 25326669 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 26235985 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR DDX3X regulates cell survival and cell cycle during mouse early embryonic development. 25050112 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-β-catenin signaling. 23413191 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Novel mutations target distinct subgroups of medulloblastoma. 22722829 2012
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders. 18463129 2008
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR The DDX3 subfamily of the DEAD box helicases: divergent roles as unveiled by studying different organisms and in vitro assays. 17979704 2007
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Divergent roles of the DEAD-box protein BS-PL10, the urochordate homologue of human DDX3 and DDX3Y proteins, in colony astogeny and ontogeny. 16518819 2006
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Belle is a Drosophila DEAD-box protein required for viability and in the germ line. 15572142 2005
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR X-inactivation profile reveals extensive variability in X-linked gene expression in females. 15772666 2005
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Functional coherence of the human Y chromosome. 9381176 1997
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Birth of the D-E-A-D box. 2563148 1989