Desmin - CISMeF

Preferred Label : Desmin;

NCIt synonyms : DES;

NCIt definition : Desmin (470 aa, 54 kDa) is encoded by the human DES gene. This protein is involved in the regulation of cytoskeletal dynamics in muscle cells.;

NCI Metathesaurus CUI : CL1663104;

Details

Origin ID

C96450;

UMLS CUI

C5441700;

Automatic exact mappings (from CISMeF team)
- Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 [OMIM Phenotype]
- Desmin [FMA entity]
- Desmin [OMIM gene]
- Desmin [LOINC component]
- Desmin (substance) [SNOMED CT concept]
- Dysequilibrium syndrome (disorder) [SNOMED CT concept]
- desmin [MeSH Descriptor]
- desmin [MeSH concept]
- desmin [ORDO Gene]
- desmin [SNOMED Notion]
- desmin [HGNC gene]
- obsolete desmin [GO term]
- type III intermediate filament [GO term]
OMIM relation
- Desmin [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- Desmin [FMA entity]
- Desmin [LOINC component]
- Desmin (substance) [SNOMED CT concept]
- desmin [MeSH Descriptor]
- desmin [SNOMED Notion]
- desmin [MeSH concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- EWS Authorized Value Terminology [NCIt concept]
- EWS Immunohistochemistry Table [NCIt concept]
gene_encodes_gene_product
- Cytoskeletal Gene [NCIt concept]
- DES Gene [NCIt concept]
- Intermediate Filament Gene [NCIt concept]
- Structural Protein Gene [NCIt concept]
gene_product_expressed_in_tissue
- Myofilament [NCIt concept]
gene_product_has_associated_anatomy
- Cytoskeleton [NCIt concept]
- Intermediate Filament [NCIt concept]
- Sarcomere [NCIt concept]
- Type III Intermediate Filament [NCIt concept]
gene_product_has_biochemical_function
- Intermediate Filament Protein [NCIt concept]
- Muscle Protein [NCIt concept]
- Scaffolding Protein [NCIt concept]
gene_product_is_element_in_pathway
- Arrhythmogenic Right Ventricular Cardiomyopathy Pathway [NCIt concept]
- Aurora B Signaling Pathway [NCIt concept]
- Dilated Cardiomyopathy Pathway [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
gene_product_plays_role_in_biological_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]

Keyword's position in hierarchy(ies) :

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