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 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 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 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 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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 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: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.900 CausalMutation CLINVAR

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

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 Biomarker HPO

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 Biomarker HPO

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.110 Biomarker HPO

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0033377
Disease: Ptosis
Ptosis 		0.110 Biomarker HPO

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.110 Biomarker HPO

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		0.110 Biomarker HPO

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.110 GeneticVariation CLINVAR

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.110 Biomarker HPO

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation CLINVAR

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0004106
Disease: Astigmatism
Astigmatism 		0.100 Biomarker HPO

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 Biomarker HPO