×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
GeneticVariation
disease
BEFREE
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
16604071
2006
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
AlteredExpression
disease
BEFREE
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome .
19701948
2009
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
GeneticVariation
disease
BEFREE
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
17221863
2007
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
CausalMutation
disease
CLINVAR
Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.
26386245
2015
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
CausalMutation
disease
CLINVAR
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
17273969
2007
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
GeneticVariation
disease
CLINVAR
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
30158690
2019
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
CausalMutation
disease
CLINVAR
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
25356970
2015
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
CausalMutation
disease
CLINVAR
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome .
19701948
2009
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
GeneticVariation
disease
CLINVAR
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
17273969
2007
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
GeneticVariation
disease
CLINVAR
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
25125236
2014
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
CausalMutation
disease
CLINVAR
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
30158690
2019
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
CausalMutation
disease
CLINVAR
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
17221863
2007
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
CausalMutation
disease
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545
2016
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
GeneticVariation
disease
CLINVAR
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
17221863
2007
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
Biomarker
disease
CTD_human
×
Entrez Id:
5885
Gene Symbol:
RAD21
RAD21
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.300
Biomarker
disease
CTD_human
Cornelia de Lange syndrome: description of the orofacial features and case report.
19886366
2008
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.300
Biomarker
disease
CTD_human
BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.
29379197
2018
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.300
Biomarker
disease
CTD_human
Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.
19763162
2009
×
Entrez Id:
9126
Gene Symbol:
SMC3
SMC3
0.300
Biomarker
disease
CTD_human
×
Entrez Id:
23476
Gene Symbol:
BRD4
BRD4
0.300
Biomarker
disease
CTD_human
BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.
29379197
2018
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
GeneticVariation
disease
UNIPROT
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
17273969
2007
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
GeneticVariation
disease
UNIPROT
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome .
19701948
2009
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
GeneticVariation
disease
UNIPROT
Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.
20635401
2010
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
0.730
GeneticVariation
disease
UNIPROT
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
16604071
2006