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 The remarkably variable expressivity of CADASIL: report of a minimally symptomatic man at an advanced age. 19252787 2009
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. 15229130 2004
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease CLINVAR The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. 10712431 2000
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. 9388399 1997
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL. 10802807 2000
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 CausalMutation disease CLINVAR Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 24139282 2014
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies. 16009764 2005
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		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
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease CLINVAR Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. 11755616 2001
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. 11755616 2001
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL. 11810186 2002
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT Quantitative MRI in CADASIL: correlation with disability and cognitive performance. 10227618 1999
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 CausalMutation disease CLINVAR Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese. 19242647 2009
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 CausalMutation disease CLINVAR NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients. 26002683 2015
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 CausalMutation disease CLINVAR NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL. 20935329 2011
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 Biomarker disease MGD Notch3 Arg170Cys knock-in mice display pathologic and clinical features of the neurovascular disorder cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 21940951 2011
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		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
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. 15364702 2004
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree. 11058919 2000
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT Hypomorphic NOTCH3 alleles do not cause CADASIL in humans. 24000151 2013
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 CausalMutation disease CLINVAR Headache among CADASIL patients with R544C mutation: prevalence, characteristics, and associations. 23847153 2014
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 CausalMutation disease CLINVAR Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014. 25980907 2015
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		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
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 15818833 2005
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.800 GeneticVariation disease UNIPROT Gene symbol: NOTCH3. Disease: CADASIL. 15300988 2004