Entrez Id: |
25836 |
Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
CausalMutation
|
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
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.
|
17661813 |
2007 |
Entrez Id: |
25836 |
Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.
|
16236812 |
2006 |
Entrez Id: |
25836 |
Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.
|
16100726 |
2005 |
Entrez Id: |
25836 |
Gene Symbol: |
NIPBL |
NIPBL
|
0.700 |
GeneticVariation
|
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 |
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.
|
15146185 |
2004 |
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 |
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.
|
11391654 |
2001 |
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: |
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: |
9126 |
Gene Symbol: |
SMC3 |
SMC3
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Entrez Id: |
5885 |
Gene Symbol: |
RAD21 |
RAD21
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Entrez Id: |
55869 |
Gene Symbol: |
HDAC8 |
HDAC8
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6878 |
Gene Symbol: |
TAF6 |
TAF6
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
4297 |
Gene Symbol: |
KMT2A |
KMT2A
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|