DES Gene - CISMeF

Preferred Label : DES Gene;

NCIt synonyms : DES; Desmin Gene;

CISMeF acronym : DES;

NCIt definition : This gene is involved in the maintenance of muscle cell structure.;

Details

Origin ID

C96448;

UMLS CUI

C1413980;

Automatic exact mappings (from CISMeF team)
- Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 [OMIM Phenotype]
- Desmin [OMIM gene]
- Dysequilibrium syndrome (disorder) [SNOMED CT concept]
- desmin [ORDO Gene]
- snails [MeSH Descriptor]
- sulfur [MeSH Descriptor]
HGNC gene
- desmin [HGNC gene]
OMIM relation
- Desmin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Desmin [OMIM gene]
- desmin [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
- Desmin [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cardiac Muscle Contraction [NCIt concept]
- Cell Movement Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
genetic_biomarker_related_to
- DES Antibody [NCIt concept]

Keyword's position in hierarchy(ies) :

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