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 | 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 | A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient. | 12589106 | 2003 |
|
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 | Biomarker | disease | GENOMICS_ENGLAND | A practical approach to diagnosing adult onset leukodystrophies. | 24357685 | 2014 |
|
0.800 | CausalMutation | disease | CLINVAR | Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL. | 23649698 | 2013 |
|
0.800 | GeneticVariation | disease | CLINVAR | Acute confusional migraine may be a presenting feature of CADASIL. | 19245392 | 2009 |
|
0.800 | CausalMutation | disease | CLINVAR | Amyotrophic lateral sclerosis and frontotemporal lobar degeneration in association with CADASIL. | 22367839 | 2012 |
|
0.800 | GeneticVariation | disease | UNIPROT | C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. | 12136071 | 2002 |
|
0.800 | CausalMutation | disease | CLINVAR | CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients. | 25344745 | 2015 |
|
0.800 | CausalMutation | disease | CLINVAR | CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor. | 11784372 | 2002 |
|
0.800 | GeneticVariation | disease | UNIPROT | CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk. | 15350543 | 2004 |
|
0.800 | GeneticVariation | disease | CLINVAR | CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. | 12146805 | 2002 |
|
0.800 | GeneticVariation | disease | UNIPROT | CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. | 12146805 | 2002 |
|
0.800 | CausalMutation | disease | CLINVAR | Case report: bipolar disorder as the first manifestation of CADASIL. | 24929957 | 2014 |
|
0.800 | CausalMutation | disease | CLINVAR | Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation. | 16717210 | 2006 |
|
0.800 | CausalMutation | disease | CLINVAR | Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles. | 26308724 | 2015 |
|
0.800 | Biomarker | disease | GENOMICS_ENGLAND | Cysteine-sparing notch3 mutations: cadasil or cadasil variants? | 19528524 | 2009 |
|
0.800 | CausalMutation | disease | CLINVAR | Detection of the founder effect in Finnish CADASIL families. | 15378071 | 2004 |
|
0.800 | GeneticVariation | disease | UNIPROT | Detection of the founder effect in Finnish CADASIL families. | 15378071 | 2004 |
|
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 | CausalMutation | disease | CLINVAR | Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. | 10371548 | 1999 |
|
0.800 | CausalMutation | disease | CLINVAR | Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. | 21852154 | 2013 |
|
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 | Evaluation of NOTCH3 Pro167Ser Variation in a Japanese Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. | 27350778 | 2016 |
|
0.800 | GeneticVariation | disease | UNIPROT | Gene symbol: NOTCH3. Disease: CADASIL. | 15300988 | 2004 |