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 |
|---|---|---|---|---|---|---|---|
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0.800 | CausalMutation | disease | CLINVAR | Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). | 22664156 | 2012 |
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0.800 | CausalMutation | disease | CLINVAR | NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients. | 26002683 | 2015 |
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0.800 | GeneticVariation | disease | CLINVAR | The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. | 10712431 | 2000 |
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0.800 | GeneticVariation | disease | CLINVAR | CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. | 12146805 | 2002 |
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0.800 | CausalMutation | disease | CLINVAR | Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. | 10371548 | 1999 |
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0.800 | CausalMutation | disease | CLINVAR | NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL. | 20935329 | 2011 |
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0.800 | CausalMutation | disease | CLINVAR | A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain. | 23602593 | 2013 |
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0.800 | GeneticVariation | disease | CLINVAR | Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. | 11755616 | 2001 |
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0.800 | CausalMutation | disease | CLINVAR | Headache among CADASIL patients with R544C mutation: prevalence, characteristics, and associations. | 23847153 | 2014 |
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0.800 | CausalMutation | disease | CLINVAR | The remarkably variable expressivity of CADASIL: report of a minimally symptomatic man at an advanced age. | 19252787 | 2009 |
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0.800 | GeneticVariation | disease | CLINVAR | Acute confusional migraine may be a presenting feature of CADASIL. | 19245392 | 2009 |
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0.800 | CausalMutation | disease | CLINVAR | Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese. | 19242647 | 2009 |
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0.800 | CausalMutation | disease | CLINVAR | Detection of the founder effect in Finnish CADASIL families. | 15378071 | 2004 |
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0.800 | CausalMutation | disease | CLINVAR | Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014. | 25980907 | 2015 |
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0.800 | CausalMutation | disease | CLINVAR | Amyotrophic lateral sclerosis and frontotemporal lobar degeneration in association with CADASIL. | 22367839 | 2012 |
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0.800 | CausalMutation | disease | CLINVAR | Case report: bipolar disorder as the first manifestation of CADASIL. | 24929957 | 2014 |
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0.800 | CausalMutation | disease | CLINVAR | Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation. | 16717210 | 2006 |
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0.800 | CausalMutation | disease | CLINVAR | CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor. | 11784372 | 2002 |
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0.800 | CausalMutation | disease | CLINVAR | Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. | 21852154 | 2013 |
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0.800 | CausalMutation | disease | CLINVAR | Evaluation of NOTCH3 Pro167Ser Variation in a Japanese Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. | 27350778 | 2016 |
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0.800 | CausalMutation | disease | CLINVAR | CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients. | 25344745 | 2015 |
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0.800 | CausalMutation | disease | CLINVAR | Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. | 24139282 | 2014 |
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0.800 | CausalMutation | disease | CLINVAR | Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL. | 23649698 | 2013 |
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0.800 | CausalMutation | disease | CLINVAR | Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles. | 26308724 | 2015 |
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0.800 | Biomarker | disease | MGD | Notch3 Arg170Cys knock-in mice display pathologic and clinical features of the neurovascular disorder cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. | 21940951 | 2011 |