NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Disease: Ischemic stroke ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.200 GeneticVariation disease BEFREE Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL) is a cerebral small vascular disease caused by NOTCH3 gene mutation in vascular smooth muscle cells (VSMCs), leading to ischemic stroke and vascular dementia. 31376480 2019
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.200 GeneticVariation disease BEFREE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a cerebral small vascular disease caused by NOTCH3 mutation-induced vascular smooth muscle cell (VSMC) degeneration, leading to ischemic stroke and vascular dementia. 29871518 2018
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.200 GeneticVariation disease 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: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.200 GeneticVariation disease BEFREE The main objective of this study was to carry out a meta-analysis for polymorphisms in CRP, EPHX2, FGA, and NOTCH3 genes and the risk for IS. 27266621 2016
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.200 GeneticVariation disease BEFREE CONCLUSIONS NOTCH3 381C>T and 1735T>C polymorphisms were associated with IS and might be the risk factors for IS development, but not NOTCH3 605C>T polymorphism. 27770607 2016
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.200 GeneticVariation disease BEFREE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary and progressive small-vessel disease caused by NOTCH3 mutations, pathologically characterized by the degeneration of vascular mural cells, white matter changes, and ischemic strokes. 27241575 2016
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.200 Biomarker disease BEFREE In addition, we investigated the association of common SNPs in NOTCH3 with MRI white matter hyperintensity volumes in 3670 white patients with ischemic stroke. 25953367 2015
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.200 Biomarker disease BEFREE Mice mutant for Notch1 and Notch3 develop arteriovenous malformations and display hallmarks of the ischemic stroke disease CADASIL. 26563570 2015
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.200 GeneticVariation disease BEFREE Among 151 consecutive patients with acute ischemic stroke, 6 patients (4.0%; 95% confidence interval [CI] 0.9-7.1) possessed a NOTCH3 gene mutation. 22133740 2013
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.200 GeneticVariation disease BEFREE Of the 19 common NOTCH3 variants identified, the only variant significantly associated with ischemic stroke after multiple testing adjustment was p.R1560P (rs78501403; Exon 25) in the combined SWISS and ISGS Caucasian series (Odds Ratio [OR] 0.50, P=0.0022) where presence of the minor allele was protective against ischemic stroke. 24086431 2013
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.200 GeneticVariation disease BEFREE We demonstrate that the C455R and R1031C mutations define different hypomorphic activity states of Notch 3, a property linked to ischemic stroke susceptibility in mouse models we generated. 21555590 2011
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.200 GeneticVariation disease BEFREE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a heritable small-vessel disease caused by mutations in NOTCH3 gene and clinically characterized by recurrent ischemic strokes, migraine with aura, psychiatric symptoms, cognitive decline and dementia. 19576955 2009
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.200 GeneticVariation disease BEFREE Mutations in the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is clinically characterised by recurrent ischemic strokes, migraine with aura, psychiatric symptoms, cognitive decline and dementia. 16807713 2006
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.200 Biomarker disease BEFREE CADASIL causes repeated ischemic strokes leading to subcortical vascular dementia. 15017012 2004
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.200 CausalMutation disease CLINVAR