|
| Entrez Id: |
8243 |
| Gene Symbol: |
SMC1A |
SMC1A
|
0.730 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
8243 |
| Gene Symbol: |
SMC1A |
SMC1A
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
5885 |
| Gene Symbol: |
RAD21 |
RAD21
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
9126 |
| Gene Symbol: |
SMC3 |
SMC3
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| 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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
|
16604071 |
2006 |
|
| Entrez Id: |
8243 |
| Gene Symbol: |
SMC1A |
SMC1A
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
|
16604071 |
2006 |
|
| 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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
|
17221863 |
2007 |
|
| 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: |
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 |
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 |
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 |
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
|
18996922 |
2009 |
|
| 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: |
8243 |
| Gene Symbol: |
SMC1A |
SMC1A
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
|
20358602 |
2010 |
|
| 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 |
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
|
20358602 |
2010 |
|
| Entrez Id: |
8243 |
| Gene Symbol: |
SMC1A |
SMC1A
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.
|
24124034 |
2013 |
|
| 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 |