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NOTCH3 - notch receptor 3
- Synonym(s) : CASIL
- Previous symbols and names : CADASIL, Notch (Drosophila) homolog 3, Notch homolog 3 (Drosophila), notch 3
- Type : gene with protein product
- Chromosomal location : 19p13.12
- OMIM: 600276
- HGNC: 7883
- UniProtKB: Q9UM47
- Genatlas: NOTCH3
- GenCC: NOTCH3
- Ensembl: ENSG00000074181
- IUPHAR-DB: 2860
- Reactome: Q9UM47
- LOVD: NOTCH3
Diseases list
- Disease-causing germline mutation(s) in Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
ORPHA:136 
- Disease-causing germline mutation(s) in Infantile myofibromatosis
ORPHA:2591 - Disease-causing germline mutation(s) (gain of function) in Lateral meningocele syndrome
ORPHA:2789
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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