Dysferlin - CISMeF

Preferred Label : Dysferlin;

NCIt synonyms : Dystrophy-Associated Fer-1-Like Protein; Fer-1-Like Protein 1; DYSF;

NCIt definition : Dysferlin (2080 aa, 237 kDa) is encoded by the human DYSF gene. This protein plays a role in sarcolemmal membrane dynamics.;

Details

Origin ID

C94679;

UMLS CUI

C0758256;

Automatic exact mappings (from CISMeF team)
- Dysferlin [OMIM gene]
- dysferlin [ORDO Gene]
- dysferlin [HGNC gene]
CISMeF manual mappings
- Dysferlin [MeSH concept]
OMIM relation
- Dysferlin [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- DYSF protein, human [MeSH concept]
- DYSF protein, human [MeSH Supplementary Concept]
- Dysferlin [LOINC component]
gene_encodes_gene_product
- DYSF Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Sarcolemma [NCIt concept]
gene_product_has_organism_source
- Human [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
gene_product_malfunction_associated_with_disease
- Distal Muscular Dystrophy [NCIt concept]
- Limb-Girdle Muscular Dystrophy [NCIt concept]
gene_product_plays_role_in_biological_process
- Calcium Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Muscle Contraction [NCIt concept]

Keyword's position in hierarchy(ies) :

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