desmin - CISMeF

Preferred Label : desmin;

Approved symbol HGNC : DES;

Name synonyms HGNC : intermediate filament protein; cardiomyopathy; dilated 1I;

Alias symbols HGNC : CMD1I; CSM2; CSM1; LGMD2R;

Chromosome HGNC : 2q35;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000175084;

Details

Origin ID

HGNC:2770;

UMLS CUI

C1413980;

Automatic exact mappings (from CISMeF team)
- Cardiomyopathy, dilated, 1i [OMIM Phenotype]
- Desmin [OMIM gene]
- Desmin [LOINC component]
- Desmin [FMA entity]
- Desmin [NCIt concept]
- Desmin (substance) [SNOMED CT concept]
- Intermediate Filament Protein [NCIt concept]
- Intermediate filament protein [FMA entity]
- Rare cardiomyopathy [ORDO Disease]
- desmin [ORDO Gene]
- desmin [MeSH concept]
- desmin [MeSH Descriptor]
- desmin [SNOMED Notion]
- glial fibrillary acidic protein [ORDO Gene]
- intermediate filament proteins [MeSH Descriptor]
- intermediate filament proteins [MeSH concept]
- type III intermediate filament [GO term]
NCIt concept
- DES Gene [NCIt concept]
OMIM gene
- Desmin [OMIM gene]
Orphanet gene
- desmin [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- DES Gene [NCIt concept]
- Desmin [OMIM gene]

Keyword's position in hierarchy(ies) :

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