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 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 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 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 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 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 NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR. 26725122 2016
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 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 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 Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. 16100726 2005
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 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 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 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 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 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 UNIPROT Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome. 25447906 2015