RYR1 Gene - CISMeF

Preferred Label : RYR1 Gene;

NCIt synonyms : Ryanodine Receptor 1 Gene; RYR1;

CISMeF acronym : RYR1;

NCIt definition : This gene is involved in the release of calcium ions from the sarcoplasmic reticulum and from intracellular stores in neurons.;

NCI Metathesaurus CUI : CL552115;

Details

Origin ID

C150311;

UMLS CUI

C1419778;

Automatic exact mappings (from CISMeF team)
- RYR1 gene [LOINC component]
- Ryanodine receptor 1 [OMIM gene]
- ryanodine receptor 1 [ORDO Gene]
- ryanodine receptor calcium release channel [MeSH Descriptor]
HGNC gene
- ryanodine receptor 1 [HGNC gene]
OMIM relation
- Ryanodine receptor 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- RYR1 gene [LOINC component]
- Ryanodine receptor 1 [OMIM gene]
- ryanodine receptor 1 [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Ryanodine Receptor 1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Autosomal Dominant Congenital Myopathy-1A [NCIt concept]
- Central Core Disease [NCIt concept]
- Malignant Hyperthermia Syndrome [NCIt concept]
- Minicore Myopathy with External Ophthalmoplegia [NCIt concept]
gene_plays_role_in_process
- Calcium Homeostasis [NCIt concept]
- Cardiac Muscle Contraction [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Muscle Contraction [NCIt concept]
- Myogenesis [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]
genetic_biomarker_related_to
- Congenital Fiber-Type Disproportion [NCIt concept]
- Oxidized RyR1 Measurement [NCIt concept]

Keyword's position in hierarchy(ies) :

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