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 | Gene symbol: NOTCH3. Disease: CADASIL. | 15300988 | 2004 |
|
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 | CausalMutation | disease | CLINVAR | Detection of the founder effect in Finnish CADASIL families. | 15378071 | 2004 |
|
0.800 | GeneticVariation | disease | UNIPROT | Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. | 15364702 | 2004 |
|
0.800 | GeneticVariation | disease | UNIPROT | Detection of the founder effect in Finnish CADASIL families. | 15378071 | 2004 |
|
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 | 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 |
|
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 | GeneticVariation | disease | UNIPROT | Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL. | 11810186 | 2002 |
|
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 syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor. | 11784372 | 2002 |
|
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 | CLINVAR | Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. | 11755616 | 2001 |
|
0.800 | GeneticVariation | disease | UNIPROT | Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. | 11755616 | 2001 |
|
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 | GeneticVariation | disease | CLINVAR | The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. | 10712431 | 2000 |
|
0.800 | GeneticVariation | disease | UNIPROT | Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL. | 10802807 | 2000 |
|
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 | Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree. | 11058919 | 2000 |
|
0.800 | GeneticVariation | disease | UNIPROT | Quantitative MRI in CADASIL: correlation with disability and cognitive performance. | 10227618 | 1999 |
|
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 | GeneticVariation | disease | UNIPROT | Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. | 9388399 | 1997 |