NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838 2014
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT Hypomorphic NOTCH3 alleles do not cause CADASIL in humans. 24000151 2013
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421 2010
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies. 16009764 2005
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 15818833 2005
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. 15364702 2004
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT Detection of the founder effect in Finnish CADASIL families. 15378071 2004
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT Gene symbol: NOTCH3. Disease: CADASIL. 15300988 2004
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk. 15350543 2004
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient. 12589106 2003
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis. 12810003 2003
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. 12146805 2002
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. 12136071 2002
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL. 11810186 2002
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings. 11559313 2001
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content. 11102981 2000
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree. 11058919 2000
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains. 10854111 2000
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL. 10802807 2000
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. 10371548 1999
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT Quantitative MRI in CADASIL: correlation with disability and cognitive performance. 10227618 1999
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 GeneticVariation UNIPROT Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. 9388399 1997
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		A 0.800 CausalMutation CLINVAR