Chloride channel 1, skeletal muscle

Preferred Label : Chloride channel 1, skeletal muscle;

Symbol : CLCN1;

CISMeF acronym : CLCN1;

Type : Gene;

Alternative titles and symbols : Chloride channel, muscle; CLC1;

Ensembl ID : ENSG00000188037;

Prefixed ID : *118425;

Details

Origin ID

118425;

UMLS CUI

C1413450;

Automatic exact mappings (from CISMeF team)
- CLCN1 gene [LOINC component]
- chloride voltage-gated channel 1 [ORDO Gene]
- chloride voltage-gated channel 1 [HGNC gene]
HGNC gene
- chloride voltage-gated channel 1 [HGNC gene]
NCIt concept(s)
- CLCN1 Gene [NCIt concept]
- CLCN1 wt Allele [NCIt concept]
- Chloride Channel Protein 1 [NCIt concept]
ORDO concept(s)
- chloride voltage-gated channel 1 [ORDO Gene]
Phenotypes related
- Myotonia congenita, autosomal dominant [OMIM Phenotype]
- Myotonia congenita, autosomal recessive [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CLCN1 gene [LOINC component]
- chloride voltage-gated channel 1 [HGNC gene]

Keyword's position in hierarchy(ies) :

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