rs201118034, NOTCH3
N. diseases: 6
Source: ALL
Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year |
---|---|---|---|---|---|---|---|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
0.800 | CausalMutation | CLINVAR | Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles. | 26308724 | 2015 | |
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 | |
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
0.800 | CausalMutation | CLINVAR | Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. | 24139282 | 2014 | |
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
0.800 | CausalMutation | CLINVAR | Headache among CADASIL patients with R544C mutation: prevalence, characteristics, and associations. | 23847153 | 2014 | |
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
0.800 | CausalMutation | 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 | |
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
0.800 | CausalMutation | CLINVAR | Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. | 21852154 | 2013 | |
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 | |
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 | |
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
0.800 | CausalMutation | CLINVAR | The remarkably variable expressivity of CADASIL: report of a minimally symptomatic man at an advanced age. | 19252787 | 2009 | |
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
0.800 | CausalMutation | CLINVAR | Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese. | 19242647 | 2009 | |
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 | |
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 | |
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
0.800 | GeneticVariation | UNIPROT | Gene symbol: NOTCH3. Disease: CADASIL. | 15300988 | 2004 | |
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 | |
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 | |
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 | |
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 | |
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 | |
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 | |
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 | |
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 | |
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 | |
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 | |
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 | |
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 |