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NOTCH3

notch receptor 3

HCNC Approved Symbol
NOTCH3 (HGNC:7883)
Genomic Coordinates
19:15,159,038 - 15,200,995 (19p13.12)
Synonyms
CASIL, CADASIL
Disease Associations
This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

53Patients

In total, 53 patients were diagnosed with a variant in the NOTCH3 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Stroke
 31 (58.5%)
Pain
 
6 (11.3%)
Paresthesia
 
4 (7.5%)
Hypertension
 
4 (7.5%)
Cerebral ischemia
 
4 (7.5%)
NOTCH3 - Gene browser | 3billion