NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Disease: Aortic Valve Disease 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.700 Biomarker disease GENOMICS_ENGLAND Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families. 26820064 2016
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.700 CausalMutation disease CLINVAR Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. 27760138 2016
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.700 Biomarker disease GENOMICS_ENGLAND Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. 16729972 2006
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.700 Biomarker disease GENOMICS_ENGLAND Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. 16729972 2006
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.700 CausalMutation disease CLINVAR Mutations in NOTCH1 cause aortic valve disease. 16025100 2005
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in NOTCH1 cause aortic valve disease. 16025100 2005
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.700 GermlineCausalMutation disease ORPHANET Mutations in NOTCH1 cause aortic valve disease. 16025100 2005
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.700 GeneticVariation disease CLINVAR
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		0.700 Biomarker disease CTD_human