Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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 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 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 Cornelia de Lange syndrome: description of the orofacial features and case report. 19886366 2008
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