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
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content. 11102981 2000
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. 10371548 1999
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 CausalMutation CLINVAR Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. 10371548 1999
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Quantitative MRI in CADASIL: correlation with disability and cognitive performance. 10227618 1999
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. 9388399 1997
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation CLINVAR
LATERAL MENINGOCELE SYNDROME
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
0.700 GeneticVariation CLINVAR
MYOFIBROMATOSIS, INFANTILE, 2
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
0.700 GeneticVariation CLINVAR
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.030 GeneticVariation BEFREE p.R544C <i>NOTCH3</i> mutation is underdiagnosed in stroke patients in Taiwan, especially in those with small vessel occlusion and sibling history of stroke. 30656190 2019
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.030 GeneticVariation BEFREE The purpose of this study is to assess whether CMBs are associated with symptomatic stroke in the CADASIL patients with R544C mutation and to compare the cerebral distribution of CMBs between CADASIL patients with and without symptomatic stroke. 25692567 2015
CADASIL Syndrome
CUI: C0751587
Disease: CADASIL Syndrome
0.030 GeneticVariation BEFREE This is a cohort study of patients who were diagnosed with genotype-confirmed R544C-mutation CADASIL. 25692567 2015
CADASIL Syndrome
CUI: C0751587
Disease: CADASIL Syndrome
0.030 GeneticVariation BEFREE Homozygosity of the NOTCH3 p.R544C has a modestly deleterious effect on the CADASIL phenotype. 23602593 2013
CADASIL Syndrome
CUI: C0751587
Disease: CADASIL Syndrome
0.030 GeneticVariation BEFREE Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. 21852154 2013
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.030 GeneticVariation BEFREE Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. 21852154 2013
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.020 GeneticVariation BEFREE Subgroup analyses revealed that the R544C mutation is associated with lower frequency of anterior temporal involvement, later age at onset and higher frequency of cognitive dysfunction. 26308724 2015
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.020 GeneticVariation BEFREE Non-Caucasian CADASIL patients with R544C mutation and Caucasian CADASIL patients show similar patterns of cognitive impairment. 24480794 2014