Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 CausalMutation CLINVAR DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 28371085

2017
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
CUI: C1849265
Disease: Overgrowth
Overgrowth 		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: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 CausalMutation CLINVAR Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis. 25724843

2015
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
CUI: C1849265
Disease: Overgrowth
Overgrowth 		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: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 CausalMutation CLINVAR DDX3X regulates cell survival and cell cycle during mouse early embryonic development. 25050112

2014
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 CausalMutation CLINVAR RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-β-catenin signaling. 23413191

2013
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 CausalMutation CLINVAR Novel mutations target distinct subgroups of medulloblastoma. 22722829

2012
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 CausalMutation CLINVAR Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders. 18463129

2008
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 CausalMutation CLINVAR The DDX3 subfamily of the DEAD box helicases: divergent roles as unveiled by studying different organisms and in vitro assays. 17979704

2007
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 CausalMutation 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
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 CausalMutation CLINVAR Belle is a Drosophila DEAD-box protein required for viability and in the germ line. 15572142

2005
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 CausalMutation CLINVAR X-inactivation profile reveals extensive variability in X-linked gene expression in females. 15772666

2005
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 CausalMutation CLINVAR Functional coherence of the human Y chromosome. 9381176

1997
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
CUI: C1849265
Disease: Overgrowth
Overgrowth 		C 0.700 CausalMutation CLINVAR Birth of the D-E-A-D box. 2563148

1989