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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 GeneticVariation disease CLINVAR Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. 24038889 2013
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 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