rs797045014, NOTCH3

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CADASIL Syndrome
CUI: C0751587
Disease: CADASIL Syndrome
0.710 GeneticVariation BEFREE All living affected members carry a Notch3 mutation (Arg153Cys) previously reported in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 10802804 2000
CADASIL Syndrome
CUI: C0751587
Disease: CADASIL Syndrome
0.710 CausalMutation CLINVAR 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
0.700 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838 2014
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
0.700 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421 2010
Transient Cerebral Ischemia
CUI: C0917805
Disease: Transient Cerebral Ischemia
0.700 CausalMutation CLINVAR
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.700 CausalMutation CLINVAR