Gene: DDX3X ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519430
rs1057519430
DDX3X
T 0.700 CausalMutation CLINVAR DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 28371085

2017
dbSNP: rs1131691608
rs1131691608
DDX3X
G 0.700 GeneticVariation CLINVAR DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 28371085

2017
dbSNP: rs1555952710
rs1555952710
DDX3X
C 0.700 CausalMutation CLINVAR DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 28371085

2017
dbSNP: rs1057519430
rs1057519430
DDX3X
T 0.700 CausalMutation CLINVAR Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 26235985

2015
dbSNP: rs1057519430
rs1057519430
DDX3X
T 0.700 CausalMutation 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
dbSNP: rs1057519430
rs1057519430
DDX3X
T 0.700 CausalMutation CLINVAR Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis. 25724843

2015
dbSNP: rs1057519430
rs1057519430
DDX3X
T 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1131691608
rs1131691608
DDX3X
G 0.700 GeneticVariation CLINVAR Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 26235985

2015
dbSNP: rs1131691608
rs1131691608
DDX3X
G 0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1131691608
rs1131691608
DDX3X
G 0.700 GeneticVariation 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
dbSNP: rs1131691608
rs1131691608
DDX3X
G 0.700 GeneticVariation CLINVAR Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis. 25724843

2015
dbSNP: rs1555952710
rs1555952710
DDX3X
C 0.700 CausalMutation CLINVAR Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 26235985

2015
dbSNP: rs1555952710
rs1555952710
DDX3X
C 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1555952710
rs1555952710
DDX3X
C 0.700 CausalMutation 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
dbSNP: rs1555952710
rs1555952710
DDX3X
C 0.700 CausalMutation CLINVAR Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis. 25724843

2015
dbSNP: rs1057519430
rs1057519430
DDX3X
T 0.700 CausalMutation CLINVAR DDX3X regulates cell survival and cell cycle during mouse early embryonic development. 25050112

2014
dbSNP: rs1131691608
rs1131691608
DDX3X
G 0.700 GeneticVariation CLINVAR DDX3X regulates cell survival and cell cycle during mouse early embryonic development. 25050112

2014
dbSNP: rs1555952710
rs1555952710
DDX3X
C 0.700 CausalMutation CLINVAR DDX3X regulates cell survival and cell cycle during mouse early embryonic development. 25050112

2014
dbSNP: rs1057519430
rs1057519430
DDX3X
T 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1057519430
rs1057519430
DDX3X
T 0.700 CausalMutation CLINVAR RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-β-catenin signaling. 23413191

2013
dbSNP: rs1131691608
rs1131691608
DDX3X
G 0.700 GeneticVariation CLINVAR RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-β-catenin signaling. 23413191

2013
dbSNP: rs1131691608
rs1131691608
DDX3X
G 0.700 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1555952710
rs1555952710
DDX3X
C 0.700 CausalMutation CLINVAR RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-β-catenin signaling. 23413191

2013
dbSNP: rs1555952710
rs1555952710
DDX3X
C 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1057519430
rs1057519430
DDX3X
T 0.700 CausalMutation CLINVAR Novel mutations target distinct subgroups of medulloblastoma. 22722829

2012