Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		disease 0.700 None 1.000 2 7 2005 2016
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		disease 0.600 strong 1.000 3 27 2014 2018
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 limited 1.000 0 1 2005 2016
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		disease 0.440 None 1.000 0 2 2013 2018
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group 0.400 moderate 1.000 0 1 2006 2006
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		disease 0.120 None 1.000 2 1 2009 2019
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 19 1 1999 2019
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 19 3 1999 2019
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 19 1 1999 2019
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C1855652
Disease: Fetus Small for Gestational Age
Fetus Small for Gestational Age 		phenotype 0.100 None 1.000 1 1 2014 2014
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype 0.100 None 1.000 1 1 2014 2014
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		disease 0.100 None 1.000 1 1 2014 2014