NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 225; N. variants: 270
Disease: Cornelia de Lange Syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 GeneticVariation disease UNIPROT Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage. 28167679 2017
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 GeneticVariation disease UNIPROT Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations. 20124326 2010
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		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
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		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
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 GeneticVariation disease CLINVAR NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. 15318302 2004
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND Special cases in Cornelia de Lange syndrome: The Spanish experience. 27164022 2016
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 GeneticVariation disease CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690 2019
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation disease CLINVAR Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. 24038889 2013
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 Biomarker disease CTD_human Cornelia de Lange syndrome: description of the orofacial features and case report. 19886366 2008
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		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
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. 11391654 2001
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		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
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation disease CLINVAR Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. 17221863 2007
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation disease CLINVAR Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. 16100726 2005
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation disease CLINVAR Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. 23254390 2013
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 GeneticVariation disease UNIPROT Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome. 25447906 2015
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		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
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		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
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		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
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation disease CLINVAR Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. 16236812 2006
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		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
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation disease CLINVAR High rate of mosaicism in individuals with Cornelia de Lange syndrome. 23505322 2013
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation disease CLINVAR NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. 15318302 2004
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 GeneticVariation disease UNIPROT Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. 21934712 2012
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation disease CLINVAR A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome. 26701315 2016