Gene: NOTCH1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background. 25914885

2019
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. 28160419

2017
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545

2015
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448

2014
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR Severe phenotype in two half-sibs with Adams Oliver syndrome. 24862819

2014
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR Nodular regenerative hyperplasia in a patient with generalized essential telangiectasia: endotheliopathy as a causal factor. 24273032

2014
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome. 23613382

2013
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve. 23578328

2013
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR Disruption of Notch1 induces vascular remodeling, intussusceptive angiogenesis, and angiosarcomas in livers of mice. 22245843

2012
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. 21457232

2012
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR Human gene copy number spectra analysis in congenital heart malformations. 22318994

2012
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. 19597493

2009
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. 19610107

2009
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. 18593716

2008
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. 17662764

2007
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. 16729972

2006
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR Mutations in NOTCH1 cause aortic valve disease. 16025100

2005
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome. 10946361

2000
dbSNP: rs1554728529
rs1554728529
NOTCH1
C 0.700 CausalMutation CLINVAR Notch signaling: cell fate control and signal integration in development. 10221902

1999