×
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
×
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
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
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
CausalMutation
disease
CLINVAR
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.
16100726
2005
×
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
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
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
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
0.700
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
GeneticVariation
disease
UNIPROT
Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations.
20124326
2010
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
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:
25836
Gene Symbol:
NIPBL
NIPBL
0.700
CausalMutation
disease
CLINVAR
Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome.
20824775
2010
×
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
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
24038889
2013