Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894230
rs104894230
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 CausalMutation CLINVAR Further delineation of cardiac abnormalities in Costello syndrome. 12210337

2002

dbSNP: rs1057517825
rs1057517825
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. 25168959

2014

dbSNP: rs1057517825
rs1057517825
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
A 0.700 GeneticVariation CLINVAR Coffin-Siris syndrome is a SWI/SNF complex disorder. 23815551

2014

dbSNP: rs1057517825
rs1057517825
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
A 0.700 GeneticVariation CLINVAR A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 23906836

2013

dbSNP: rs1057517825
rs1057517825
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
A 0.700 GeneticVariation CLINVAR Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 23929686

2013

dbSNP: rs1057517825
rs1057517825
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
A 0.700 GeneticVariation CLINVAR Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308

2012

dbSNP: rs1057519430
rs1057519430
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 28371085

2017

dbSNP: rs1057519430
rs1057519430
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis. 25724843

2015

dbSNP: rs1057519430
rs1057519430
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015

dbSNP: rs1057519430
rs1057519430
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR DDX3X regulates cell survival and cell cycle during mouse early embryonic development. 25050112

2014

dbSNP: rs1057519430
rs1057519430
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013

dbSNP: rs1057519430
rs1057519430
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-β-catenin signaling. 23413191

2013

dbSNP: rs1057519430
rs1057519430
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Novel mutations target distinct subgroups of medulloblastoma. 22722829

2012

dbSNP: rs1057519430
rs1057519430
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
T 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: rs1057519430
rs1057519430
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
T 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: rs1057519430
rs1057519430
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
T 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: rs1057519430
rs1057519430
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Belle is a Drosophila DEAD-box protein required for viability and in the germ line. 15572142

2005

dbSNP: rs1057519430
rs1057519430
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR X-inactivation profile reveals extensive variability in X-linked gene expression in females. 15772666

2005

dbSNP: rs1057519430
rs1057519430
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Functional coherence of the human Y chromosome. 9381176

1997

dbSNP: rs1057519430
rs1057519430
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Birth of the D-E-A-D box. 2563148

1989

dbSNP: rs1057519927
rs1057519927
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273

2018

dbSNP: rs1057519927
rs1057519927
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). 27426476

2017

dbSNP: rs1057519927
rs1057519927
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
G 0.700 GeneticVariation CLINVAR Mapping Coaches' Views of Participation in CrossFit to the Integrated Theory of Health Behavior Change and Sense of Community. 27870750

2017