NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Disease: Hemiparaesthesia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852642
rs137852642
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C1399357
Disease:
Hemiparaesthesia 		0.010 GeneticVariation BEFREE Based on a structured questionnaire and medical records, the authors found that 12 of 25 mothers with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with the R133C NOTCH3 mutation had had neurologic symptoms in 17 of their 43 pregnancies, most commonly hemiparesthesia (76%), hemiparesis (36%), aphasia (65%), and visual disorders (47%). 15851739 2005