NOTCH3 Gene - CISMeF

Preferred Label : NOTCH3 Gene;

NCIt synonyms : Notch 3 Gene; NOTCH3;

CISMeF acronym : NOTCH3;

NCIt definition : This gene plays a role in both intercellular signaling and cell fate determination.;

Details

Origin ID

C106436;

UMLS CUI

C1417768;

Automatic exact mappings (from CISMeF team)
- NOTCH3 gene [LOINC component]
- Notch receptor 3 [OMIM gene]
- Notch receptor 4 [OMIM gene]
- notch receptor 3 [ORDO Gene]
HGNC gene
- notch receptor 3 [HGNC gene]
OMIM relation
- Notch receptor 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- NOTCH3 gene [LOINC component]
- Notch receptor 3 [OMIM gene]
- notch receptor 3 [HGNC gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
gene_encodes_gene_product
- Neurogenic Locus Notch Homolog Protein 3 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Activating NOTCH3 Mutation [NCIt concept]
- NOTCH3 Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- CADASIL Syndrome [NCIt concept]
- Infantile Myofibromatosis 2 [NCIt concept]
gene_mapped_to_disease
- CADASIL Syndrome [NCIt concept]
- Infantile Myofibromatosis 2 [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]
genetic_biomarker_related_to
- Genetic Predisposition to Myofibromatosis [NCIt concept]
- Infantile Myofibromatosis 2 [NCIt concept]
- MIR143/NOTCH3 Fusion Gene [NCIt concept]
- Myofibromatosis [NCIt concept]
- NOTCH Family Gene Mutation [NCIt concept]
- NOTCH Gene Rearrangement [NCIt concept]
- Neurogenic Locus Notch Homolog Protein 3 Staining Method [NCIt concept]

Keyword's position in hierarchy(ies) :

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