NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Disease: Subcortical dementia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4024935
Disease: Subcortical dementia
Subcortical dementia 		0.110 GeneticVariation disease BEFREE We describe a pedigree, which suffered the classical clinical CADASIL pattern of migraine headaches, recurrent subcortical infarcts, and subcortical dementia, associated with a previously undescribed missense mutation (c.[244T>C], p.[C82R]) in NOTCH3. 25096610 2015
CUI: C4024935
Disease: Subcortical dementia
Subcortical dementia 		0.110 Biomarker disease HPO