Ryanodine receptor 1

Preferred Label : Ryanodine receptor 1;

Symbol : RYR1;

CISMeF acronym : RYR1;

Type : Gene;

Alternative titles and symbols : Ryanodine receptor, skeletal muscle; Skeletal muscle ryanodine receptor; Sarcoplasmic reticulum calcium release channel; RYDR; SKRR;

Ensembl ID : ENSG00000196218;

Prefixed ID : *180901;

Details

Origin ID

180901;

UMLS CUI

C1419778;

Automatic exact mappings (from CISMeF team)
- RYR1 Gene [NCIt concept]
- RYR1 gene [LOINC component]
- RYR1 wt Allele [NCIt concept]
- Ryanodine Receptor 1 [NCIt concept]
- ryanodine receptor 1 [ORDO Gene]
- ryanodine receptor 1 [MeSH concept]
- ryanodine receptor 1 [HGNC gene]
- ryanodine receptor calcium release channel [MeSH Descriptor]
HGNC gene
- ryanodine receptor 1 [HGNC gene]
NCIt concept(s)
- RYR1 Gene [NCIt concept]
- RYR1 wt Allele [NCIt concept]
- Ryanodine Receptor 1 [NCIt concept]
ORDO concept(s)
- ryanodine receptor 1 [ORDO Gene]
Phenotypes related
- Congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia [OMIM Phenotype]
- Congenital myopathy 1b, autosomal recessive [OMIM Phenotype]
- King-denborough syndrome [OMIM Phenotype]
- Malignant hyperthermia, susceptibility to, 1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- RYR1 Gene [NCIt concept]
- RYR1 gene [LOINC component]
- ryanodine receptor 1 [HGNC gene]

Keyword's position in hierarchy(ies) :

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