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: 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: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117

2018
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117

2018
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196

2017
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0005910
Disease: Body Weight
Body Weight 		0.100 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196

2017
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: C0019572
Disease: Hirsutism
Hirsutism 		0.100 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: C0349588
Disease: Short stature
Short stature 		0.100 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: C0431447
Disease: Synophrys
Synophrys 		0.100 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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 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 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 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 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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Cornelia de Lange Syndrome. 26537453

2015
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation GWASCAT Defining the role of common variation in the genomic and biological architecture of adult human height. 25282103

2014
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Cornelia de Lange syndrome. 25209348

2015
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 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 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 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 High rate of mosaicism in individuals with Cornelia de Lange syndrome. 23505322

2013
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Oral muscles are progressively affected in Duchenne muscular dystrophy: implications for dysphagia treatment. 23263593

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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies. 22740382

2012