ROBO3 wt Allele

Preferred Label : ROBO3 wt Allele;

NCIt synonyms : RB-Inhibiting Gene 1; HGPPS; Retinoblastoma Inhibiting Gene 1; RIG1; HGPS; Roundabout, Axon Guidance Receptor, Homolog 3 Gene; Scoliosis Gene; FLJ21044; Roundabout Guidance Receptor 3 wt Allele; Roundabout (Axon Guidance Receptor, Drosophila) Homolog 3 Gene; Roundabout, Drosophila, Homolog of, 3 Gene; RBIG1; Roundabout, Axon Guidance Receptor, Homolog 3 (Drosophila) Gene; Horizontal Gaze Palsy With Progressive Scoliosis Gene;

NCIt definition : Human ROBO3 wild-type allele is located in the vicinity of 11q24.2 and is approximately 16 kb in length. This allele, which encodes roundabout homolog 3 protein, plays a role in axon guidance and neurite outgrowth. Mutation of the gene is associated with horizontal gaze palsy with progressive scoliosis.;

NCI Metathesaurus CUI : CL507986;

GenBank Accession Number : AK024697;

Details

Origin ID

C126778;

UMLS CUI

C4284138;

Automatic exact mappings (from CISMeF team)
- Gaze palsy, familial horizontal, with progressive scoliosis 1 [OMIM Phenotype]
- Horizontal gaze palsy with progressive scoliosis [ORDO Disease]
- Horizontal gaze palsy with progressive scoliosis [ICD-11 More detail]
- Hutchinson-Gilford progeria syndrome [ORDO Disease]
- Hutchinson-gilford progeria syndrome [OMIM Phenotype]
- Phospholipase a and acyltransferase 4 [OMIM gene]
- RNA sensor RIG-I [ORDO Gene]
- Roundabout guidance receptor 3 [OMIM gene]
- gaze palsy, familial horizontal, with progressive scoliosis [MeSH Supplementary Concept]
- lamin A/C [ORDO Gene]
- progeria [DO Concept]
- progeria [MeSH Descriptor]
- roundabout guidance receptor 3 [ORDO Gene]
- zinc metallopeptidase STE24 [ORDO Gene]
OMIM relation
- Roundabout guidance receptor 3 [OMIM gene]
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_is_element_in_pathway
- Axon Guidance Pathway [NCIt concept]
gene_plays_role_in_process
- Cellular Migration Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Neural Development [NCIt concept]
- Receptor Signaling [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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