NOTCH3 wt Allele

Preferred Label : NOTCH3 wt Allele;

NCIt synonyms : IMF2; CASIL; Notch, Drosophila, Homolog of, 3 Gene; CADASIL; Notch Homolog 3 (Drosophila) Gene; Notch (Drosophila) Homolog 3 Gene; Notch 3 wt Allele; Notch Homolog 3 Gene;

NCIt definition : Human NOTCH3 wild-type allele is located within 19p13.2-p13.1 and is approximately 41 kb in length. This allele, which encodes neurogenic locus notch homolog protein 3, is involved in both cell-cell signaling and cell differentiation. Mutation of the gene is associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).;

GenBank Accession Number : U97669;

Details

Origin ID

C106437;

UMLS CUI

C3813553;

Automatic exact mappings (from CISMeF team)
- CADASIL [MedDRA LLT]
- CADASIL [Radlex concept]
- CADASIL [MeSH concept]
- CADASIL [DO Concept]
- CADASIL [MeSH Descriptor]
- CADASIL [MedDRA Preferred Term]
- Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy [ORDO Disease]
- Myofibromatosis, infantile, 2 [OMIM Phenotype]
- notch receptor 3 [ORDO Gene]
OMIM relation
- Notch receptor 3 [OMIM gene]
See also inter- (CISMeF)
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19p13.2-p13.1 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- CADASIL Syndrome [NCIt concept]
- Infantile Myofibromatosis 2 [NCIt concept]
gene_is_element_in_pathway
- Dorso-Ventral Axis Formation Pathway [NCIt concept]
- Notch Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Fate Control [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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