NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555727942
rs1555727942
Entrez Id: 4854;102465476
Gene Symbol: NOTCH3;MIR6795
NOTCH3;MIR6795
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
A 0.800 CausalMutation CLINVAR CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients. 25344745 2015
dbSNP: rs201118034
rs201118034
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
A 0.800 CausalMutation CLINVAR Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles. 26308724 2015
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838 2014
dbSNP: rs1555727942
rs1555727942
Entrez Id: 4854;102465476
Gene Symbol: NOTCH3;MIR6795
NOTCH3;MIR6795
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838 2014
dbSNP: rs1555729604
rs1555729604
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838 2014
dbSNP: rs201118034
rs201118034
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838 2014
dbSNP: rs201118034
rs201118034
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
A 0.800 CausalMutation CLINVAR Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 24139282 2014
dbSNP: rs201118034
rs201118034
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
A 0.800 CausalMutation CLINVAR Headache among CADASIL patients with R544C mutation: prevalence, characteristics, and associations. 23847153 2014
dbSNP: rs201680145
rs201680145
Entrez Id: 4854;102465476
Gene Symbol: NOTCH3;MIR6795
NOTCH3;MIR6795
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838 2014
dbSNP: rs267606915
rs267606915
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838 2014
dbSNP: rs28933696
rs28933696
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838 2014
dbSNP: rs28933697
rs28933697
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838 2014
dbSNP: rs28933698
rs28933698
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838 2014
dbSNP: rs28937321
rs28937321
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838 2014
dbSNP: rs75068032
rs75068032
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838 2014
dbSNP: rs775267348
rs775267348
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838 2014
dbSNP: rs137852641
rs137852641
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Hypomorphic NOTCH3 alleles do not cause CADASIL in humans. 24000151 2013
dbSNP: rs137852642
rs137852642
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Hypomorphic NOTCH3 alleles do not cause CADASIL in humans. 24000151 2013
dbSNP: rs1555727942
rs1555727942
Entrez Id: 4854;102465476
Gene Symbol: NOTCH3;MIR6795
NOTCH3;MIR6795
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Hypomorphic NOTCH3 alleles do not cause CADASIL in humans. 24000151 2013
dbSNP: rs1555729604
rs1555729604
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
A 0.800 CausalMutation CLINVAR Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL. 23649698 2013
dbSNP: rs1555729604
rs1555729604
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Hypomorphic NOTCH3 alleles do not cause CADASIL in humans. 24000151 2013
dbSNP: rs201118034
rs201118034
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
A 0.800 CausalMutation 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
dbSNP: rs201118034
rs201118034
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
A 0.800 CausalMutation CLINVAR Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. 21852154 2013
dbSNP: rs201118034
rs201118034
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Hypomorphic NOTCH3 alleles do not cause CADASIL in humans. 24000151 2013
dbSNP: rs201680145
rs201680145
Entrez Id: 4854;102465476
Gene Symbol: NOTCH3;MIR6795
NOTCH3;MIR6795
CUI: C4551768
Disease:
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.800 GeneticVariation UNIPROT Hypomorphic NOTCH3 alleles do not cause CADASIL in humans. 24000151 2013