rs797045014, NOTCH3

N. diseases: 4
Disease: CADASIL Syndrome ×
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