Gene: DDX3X ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.460 GeneticVariation group BEFREE De novo DDX3X variants account for 1-3% of syndromic intellectual disability (ID) in females and have been occasionally reported in males. 30936465 2019
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.460 GeneticVariation group BEFREE Through whole-exome sequencing, we identified three unrelated males with hemizygous missense DDX3X variants and ID. 30734472 2019
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.460 GeneticVariation group BEFREE Our genetic and functional data suggest that partial loss of function of DDX3X can cause syndromic ID. 29490693 2018
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.460 GeneticVariation group BEFREE Based on these data, de novo heterozygous DDX3X variants should be considered not only in females with unexplained ID, but also in individuals with a clinical diagnosis of T-CS. 28371085 2017
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.460 AlteredExpression group BEFREE Mutations in human DDX3X and deregulation of its expression are linked to tumorigenesis and intellectual disability. 29037760 2017
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.460 GeneticVariation group BEFREE In these families, all males with the DDX3X variant had ID, whereas carrier females were unaffected. 26235985 2015
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.460 Biomarker group GENOMICS_ENGLAND Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.460 Biomarker group HPO