Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.700 CausalMutation CLINVAR Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. 27760138

2016
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.700 CausalMutation CLINVAR Mutations in NOTCH1 cause aortic valve disease. 16025100

2005
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.700 GeneticVariation CLINVAR

Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.600 GeneticVariation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900

2018
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.600 CausalMutation CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900

2018
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.600 CausalMutation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545

2015
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.600 GeneticVariation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545

2015
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.600 CausalMutation CLINVAR Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448

2014
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.600 GeneticVariation CLINVAR Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448

2014
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 GeneticVariation CLINVAR

Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.440 GeneticVariation CLINVAR

Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.400 GeneticVariation CLINVAR

Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.120 CausalMutation CLINVAR Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. 27760138

2016
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.120 CausalMutation CLINVAR De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. 19597493

2009
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background. 25914885

2019
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background. 25914885

2019
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background. 25914885

2019
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. 28160419

2017
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. 28160419

2017
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. 28160419

2017
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545

2015
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545

2015
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545

2015
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448

2014
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Nodular regenerative hyperplasia in a patient with generalized essential telangiectasia: endotheliopathy as a causal factor. 24273032

2014