chloride voltage-gated channel 1

Preferred Label : chloride voltage-gated channel 1;

Approved symbol HGNC : CLCN1;

Name synonyms HGNC : Thomsen disease; autosomal dominant;

Alias symbols HGNC : CLC1; ClC-1;

Chromosome HGNC : 7q34;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000188037;

Details

Origin ID

HGNC:2019;

UMLS CUI

C1413450;

Automatic exact mappings (from CISMeF team)
- Autosomal Dominant Inheritance [NCIt concept]
- Autosomal dominant inheritance [HPO term]
- Autosomal dominant inheritance (qualifier value) [SNOMED CT concept]
- Chloride channel 1, skeletal muscle [OMIM gene]
- Congenital myotonia, autosomal dominant form (disorder) [SNOMED CT concept]
- Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a [OMIM Phenotype]
- Myotonia congenita [MedDRA Preferred Term]
- Myotonia congenita, autosomal dominant [OMIM Phenotype]
- Thomsen's disease [MedDRA LLT]
- chloride voltage-gated channel 1 [ORDO Gene]
- myotonia congenita [DO Concept]
- myotonia congenita [MeSH Descriptor]
NCIt concept
- CLCN1 Gene [NCIt concept]
OMIM gene
- Chloride channel 1, skeletal muscle [OMIM gene]
Orphanet gene
- chloride voltage-gated channel 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CLCN1 gene [LOINC component]
- Chloride channel 1, skeletal muscle [OMIM gene]

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