Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		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
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient. 12589106 2003
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		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
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 CausalMutation disease CLINVAR Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL. 23649698 2013
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease CLINVAR Acute confusional migraine may be a presenting feature of CADASIL. 19245392 2009
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 CausalMutation disease CLINVAR Amyotrophic lateral sclerosis and frontotemporal lobar degeneration in association with CADASIL. 22367839 2012
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. 12136071 2002
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 CausalMutation disease CLINVAR CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients. 25344745 2015
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 CausalMutation disease CLINVAR CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor. 11784372 2002
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		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
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease CLINVAR CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. 12146805 2002
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. 12146805 2002
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 CausalMutation disease CLINVAR Case report: bipolar disorder as the first manifestation of CADASIL. 24929957 2014
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 CausalMutation disease CLINVAR Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation. 16717210 2006
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 CausalMutation disease CLINVAR Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles. 26308724 2015
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 Biomarker disease GENOMICS_ENGLAND Cysteine-sparing notch3 mutations: cadasil or cadasil variants? 19528524 2009
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 CausalMutation disease CLINVAR Detection of the founder effect in Finnish CADASIL families. 15378071 2004
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT Detection of the founder effect in Finnish CADASIL families. 15378071 2004
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. 10371548 1999
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 CausalMutation disease CLINVAR Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. 10371548 1999
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 CausalMutation disease CLINVAR Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. 21852154 2013
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content. 11102981 2000
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		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
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT Gene symbol: NOTCH3. Disease: CADASIL. 15300988 2004