Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 5885
Gene Symbol: RAD21
RAD21 		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 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 Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. 26386245 2015
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 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 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 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 Biomarker disease GENOMICS_ENGLAND Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. 26358754 2015
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 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 Biomarker disease CTD_human
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 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
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 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