|
| Entrez Id: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
|
15318302 |
2004 |
|
| Entrez Id: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
|
21934712 |
2012 |
|
| Entrez Id: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
|
26701315 |
2016 |
|
| Entrez Id: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.
|
23254390 |
2013 |
|
| Entrez Id: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
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: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
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
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
|
24874887 |
2014 |
|
| Entrez Id: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
|
15146186 |
2004 |
|
| Entrez Id: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
de Lange syndrome: a clinical review of 310 individuals.
|
8291537 |
1993 |
|
| Entrez Id: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.
|
26725122 |
2016 |
|
| Entrez Id: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
|
15318302 |
2004 |
|
| Entrez Id: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
|
26925417 |
2016 |
|
| Entrez Id: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
|
30158690 |
2019 |
|
| Entrez Id: |
25836 |
| Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
|
24038889 |
2013 |
|
| Entrez Id: |
5885 |
| Gene Symbol: |
RAD21 |
RAD21
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
8243 |
| Gene Symbol: |
SMC1A |
SMC1A
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
9126 |
| Gene Symbol: |
SMC3 |
SMC3
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
6878 |
| Gene Symbol: |
TAF6 |
TAF6
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|