rs104894230
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Further delineation of cardiac abnormalities in Costello syndrome.
|
12210337 |
2002 |
rs1057517825
|
|
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 |
rs1057517825
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Coffin-Siris syndrome is a SWI/SNF complex disorder.
|
23815551 |
2014 |
rs1057517825
|
|
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 |
rs1057517825
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
|
23929686 |
2013 |
rs1057517825
|
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
|
22426308 |
2012 |
rs1057519430
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
|
28371085 |
2017 |
rs1057519430
|
|
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 |
rs1057519430
|
|
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 |
rs1057519430
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis.
|
25724843 |
2015 |
rs1057519430
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
rs1057519430
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
DDX3X regulates cell survival and cell cycle during mouse early embryonic development.
|
25050112 |
2014 |
rs1057519430
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
|
24267886 |
2013 |
rs1057519430
|
|
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 |
rs1057519430
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Novel mutations target distinct subgroups of medulloblastoma.
|
22722829 |
2012 |
rs1057519430
|
|
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 |
rs1057519430
|
|
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 |
rs1057519430
|
|
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 |
rs1057519430
|
|
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 |
rs1057519430
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
X-inactivation profile reveals extensive variability in X-linked gene expression in females.
|
15772666 |
2005 |
rs1057519430
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Functional coherence of the human Y chromosome.
|
9381176 |
1997 |
rs1057519430
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Birth of the D-E-A-D box.
|
2563148 |
1989 |
rs1057519927
|
|
Multiple congenital anomalies
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
|
28941273 |
2018 |
rs1057519927
|
|
Multiple congenital anomalies
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).
|
27426476 |
2017 |
rs1057519927
|
|
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 |