NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background. 25914885 2019
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. 28160419 2017
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Severe phenotype in two half-sibs with Adams Oliver syndrome. 24862819 2014
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome. 23613382 2013
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Human gene copy number spectra analysis in congenital heart malformations. 22318994 2012
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Disruption of Notch1 induces vascular remodeling, intussusceptive angiogenesis, and angiosarcomas in livers of mice. 22245843 2012
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. 21457232 2012
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. 19610107 2009
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. 18593716 2008
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. 17662764 2007
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Mutations in NOTCH1 cause aortic valve disease. 16025100 2005
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome. 10946361 2000
dbSNP: rs1554728529
rs1554728529
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Notch signaling: cell fate control and signal integration in development. 10221902 1999