Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 GeneticVariation disease CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
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 Biomarker disease GENOMICS_ENGLAND Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. 29440723 2018
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 GeneticVariation disease UNIPROT Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage. 28167679 2017
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 Biomarker disease GENOMICS_ENGLAND Special cases in Cornelia de Lange syndrome: The Spanish experience. 27164022 2016
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 CausalMutation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
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 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 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 GeneticVariation disease UNIPROT Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome. 25447906 2015
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 CausalMutation disease CLINVAR Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. 24635725 2014
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 CausalMutation disease CLINVAR Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. 24038889 2013
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 CausalMutation disease CLINVAR Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. 23254390 2013
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.700 CausalMutation disease CLINVAR High rate of mosaicism in individuals with Cornelia de Lange syndrome. 23505322 2013
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 GeneticVariation disease CLINVAR Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. 24038889 2013