Source: HPO

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: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		disease 0.700 None 0.955 0 0 2005 2019
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification 		disease 0.650 None 1.000 0 0 2005 2020
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		disease 0.190 None 0.889 0 0 2013 2018
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		disease 0.150 None 1.000 0 0 2014 2017
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.120 None 1.000 0 0 2019 2019
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension 		disease 0.120 None 1.000 0 0 2012 2014
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease 0.120 None 1.000 0 0 2015 2019
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease 0.120 None 1.000 0 0 2015 2019
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 0 0 2009 2019
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		disease 0.110 None 1.000 0 0 2020 2020
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0748427
Disease: Right atrial enlargement
Right atrial enlargement 		disease 0.100 None 0 0
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0856748
Disease: Aneurysm of aortic arch
Aneurysm of aortic arch 		disease 0.100 None 0 0
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
Congenital atresia of pulmonary artery 		disease 0.100 None 0 0
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0162770
Disease: Right Ventricular Hypertrophy
Right Ventricular Hypertrophy 		disease 0.100 None 0 0
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C1301937
Disease: Talipes
Talipes 		disease 0.100 None 0 0
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease 0.100 None 0 0
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0345419
Disease: Cutis marmorata telangiectatica congenita
Cutis marmorata telangiectatica congenita 		disease 0.100 None 0 0
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C1833225
Disease: Dystrophic toenail
Dystrophic toenail 		phenotype 0.100 None 0 0
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0426868
Disease: Absence of hand
Absence of hand 		phenotype 0.100 None 0 0
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C1836653
Disease: Ascending aortic dissection
Ascending aortic dissection 		phenotype 0.100 None 0 0
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype 0.100 None 0 0