NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
0.100 Biomarker group BEFREE CADASIL is an inherited cerebrovascular disease caused by mutations in the NOTCH3 gene. 29801872 2018
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
0.100 GeneticVariation group BEFREE Mutations in NOTCH3 causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary cerebrovascular disease that leads to ischemic strokes and dementia, but in which migraine is often present, sometimes long before the onset of other symptoms. 28271496 2017
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
0.100 GeneticVariation group BEFREE Therefore, we investigated a family carrying a NOTCH3 nonsense mutation, with dominantly inherited recurrent cerebrovascular disorders. 25260852 2015
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
0.100 GeneticVariation group BEFREE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare inherited cerebrovascular disease associated with mutations in the NOTCH3 gene on chromosome 19, and represents the most common hereditary stroke disorder. 25096610 2015
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
0.100 GeneticVariation group BEFREE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease due to mutations involving loss or gain of a cysteine residue in the NOTCH3 gene. 21616505 2011
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
0.100 Biomarker group BEFREE CADASIL is a cerebrovascular disease caused by mutations in the NOTCH3 gene. 19006080 2009
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
0.100 Biomarker group BEFREE To assess endothelial function in CADASIL, L-arginine-induced vasoreactivity was studied in 25 CADASIL subjects and 24 non-CADASIL control subjects without previous history of cerebrovascular disease by transcranial Doppler sonography of the middle cerebral artery. 18537053 2008
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
0.100 Biomarker group BEFREE To investigate the Notch 3 mutation spectrum in Arab patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy CADASIL, which is an inherited cerebrovascular disease characterized by recurrent subcortical ischemic stroke starting in the third or fourth decade. 18626519 2008
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
0.100 GeneticVariation group BEFREE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an inherited cerebrovascular disease due to mutations of the Notch3 gene at the chromosome locus 19p13. 15995828 2005
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
0.100 GeneticVariation group BEFREE In the present study, we investigated a possible association between a T6746C polymorphism in the Notch3 coding region and the occurrence of symptomatic ischaemic cerebrovascular disease (CVD) was investigated. 11861701 2002