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 |
---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | disease | 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 |
|
0.800 | GeneticVariation | disease | UNIPROT | Quantitative MRI in CADASIL: correlation with disability and cognitive performance. | 10227618 | 1999 |
|
0.800 | GeneticVariation | disease | UNIPROT | Hypomorphic NOTCH3 alleles do not cause CADASIL in humans. | 24000151 | 2013 |
|
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 |
|
0.800 | GeneticVariation | disease | UNIPROT | Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content. | 11102981 | 2000 |
|
0.800 | CausalMutation | disease | CLINVAR | NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients. | 26002683 | 2015 |
|
0.800 | GeneticVariation | disease | CLINVAR | The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. | 10712431 | 2000 |
|
0.800 | GeneticVariation | disease | UNIPROT | Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. | 10371548 | 1999 |
|
0.800 | GeneticVariation | disease | CLINVAR | CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. | 12146805 | 2002 |
|
0.800 | GeneticVariation | disease | UNIPROT | The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. | 15229130 | 2004 |
|
0.800 | GeneticVariation | disease | UNIPROT | Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL. | 10802807 | 2000 |
|
0.800 | CausalMutation | disease | CLINVAR | Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. | 10371548 | 1999 |
|
0.800 | GeneticVariation | disease | UNIPROT | Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains. | 10854111 | 2000 |
|
0.800 | GeneticVariation | disease | UNIPROT | Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. | 9388399 | 1997 |
|
0.800 | CausalMutation | disease | CLINVAR | NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL. | 20935329 | 2011 |
|
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 |
|
0.800 | GeneticVariation | disease | UNIPROT | CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. | 12146805 | 2002 |
|
0.800 | GeneticVariation | disease | CLINVAR | Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. | 11755616 | 2001 |
|
0.800 | CausalMutation | disease | CLINVAR | Headache among CADASIL patients with R544C mutation: prevalence, characteristics, and associations. | 23847153 | 2014 |
|
0.800 | GeneticVariation | disease | UNIPROT | Gene symbol: NOTCH3. Disease: CADASIL. | 15300988 | 2004 |
|
0.800 | GeneticVariation | disease | UNIPROT | A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient. | 12589106 | 2003 |
|
0.800 | CausalMutation | disease | CLINVAR | The remarkably variable expressivity of CADASIL: report of a minimally symptomatic man at an advanced age. | 19252787 | 2009 |
|
0.800 | GeneticVariation | disease | UNIPROT | Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL. | 11810186 | 2002 |
|
0.800 | GeneticVariation | disease | UNIPROT | Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. | 15818833 | 2005 |
|
0.800 | GeneticVariation | disease | CLINVAR | Acute confusional migraine may be a presenting feature of CADASIL. | 19245392 | 2009 |