RHO wt Allele - CISMeF

Preferred Label : RHO wt Allele;

NCIt synonyms : Rhodopsin wt Allele; RP4; Opsin 2, Rod Pigment Gene; Retinitis Pigmentosa 4, Autosomal Dominant Gene; OPN2; CSNBAD1;

NCIt definition : Human RHO wild-type allele is located in the vicinity of 3q22.1 and is approximately 7 kb in length. This allele, which encodes rhodopsin protein, is involved in photoreceptor cell activity and maintenance. Mutation of the gene is associated with congenital stationary night blindness, retinitis pigmentosa 4, and retinitis punctata albescens.;

NCI Metathesaurus CUI : CL512326;

GenBank Accession Number : AB065668;

Détails

Origin ID

C129079;

UMLS CUI

C4283940;

Automatic exact mappings (from CISMeF team)
- Night blindness, congenital stationary, autosomal dominant 1 [OMIM Phenotype]
- Retinitis pigmentosa 4 [OMIM Phenotype]
- Rhodopsin [OMIM gene]
- congenital stationary night blindness autosomal dominant 1 [DO Concept]
- night blindness, congenital stationary, autosomal dominant 1 [MeSH Supplementary Concept]
- retinitis pigmentosa 4 [DO Concept]
- rhodopsin [ORDO Gene]
OMIM relation
- Rhodopsin [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_in_chromosomal_location
- 3q22.1 [NCIt concept]
gene_is_element_in_pathway
- Phototransduction Pathway [NCIt concept]
- Visual Signal Transduction Pathway [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Sight [NCIt concept]
- Signal Transduction [NCIt concept]
- Visual Perception [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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