Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.900 CausalMutation CLINVAR

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 GeneticVariation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation 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
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation 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
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation CLINVAR NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR. 26725122

2016
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation 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
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation 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
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation 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
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation CLINVAR Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. 24038889

2013
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation CLINVAR Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. 23254390

2013
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation CLINVAR High rate of mosaicism in individuals with Cornelia de Lange syndrome. 23505322

2013
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 GeneticVariation CLINVAR Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. 24038889

2013
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation 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
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation 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
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation 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
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 GeneticVariation 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
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation CLINVAR Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. 16236812

2006
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation CLINVAR Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. 16100726

2005
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 GeneticVariation 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
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 CausalMutation 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
CUI: C0265563
Disease: Congenital dislocation of radial head
Congenital dislocation of radial head 		0.400 Biomarker HPO

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 CausalMutation CLINVAR

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker HPO

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0003467
Disease: Anxiety
Anxiety 		0.110 Biomarker HPO