Dysferlin - CISMeF

Preferred Label : Dysferlin;

MeSH definition : A membrane protein that contains multiple C2 DOMAINS. It is highly expressed in skeletal muscle and functions as a calcium ion sensor in SYNAPTIC VESICLE-PLASMA MEMBRANE fusion, as well as in SARCOLEMMA repair following mechanical stress. Mutations in the dysferlin (DYSF) gene are associated with several hereditary MUSCULAR DYSTROPHIES.;

MeSH synonym : Fer-1-like Protein 1; Fer 1 like Protein 1;

Details

Origin ID

D000073939;

UMLS CUI

C4319832;

Allowable qualifiers
- administration and dosage [MeSH Qualifier]
- adverse effects [MeSH Qualifier]
- agonists [MeSH Qualifier]
- analysis [MeSH Qualifier]
- antagonists and inhibitors [MeSH Qualifier]
- biosynthesis [MeSH Qualifier]
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemical synthesis [MeSH Qualifier]
- chemistry [MeSH Qualifier]
- classification [MeSH Qualifier]
- deficiency [MeSH Qualifier]
- drug effects [MeSH Qualifier]
- economics [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- isolation and purification [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- pharmacokinetics [MeSH Qualifier]
- pharmacology [MeSH Qualifier]
- physiology [MeSH Qualifier]
- poisoning [MeSH Qualifier]
- radiation effects [MeSH Qualifier]
- standards [MeSH Qualifier]
- supply and distribution [MeSH Qualifier]
- therapeutic use [MeSH Qualifier]
- toxicity [MeSH Qualifier]
- ultrastructure [MeSH Qualifier]
- urine [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Dysferlin [OMIM gene]
- dysferlin [ORDO Gene]
- dysferlin [HGNC gene]
Currated CISMeF NLP mapping
- Dysferlin [NCIt concept]
- Dysferlin [LOINC component]
- Dysferlin (substance) [SNOMED CT concept]
Record concept(s)
- Dysferlin [MeSH concept]
Related MeSH Supplementary Concept(s)
- DYSF protein, human [MeSH Supplementary Concept]
- dysf protein, mouse [MeSH Supplementary Concept]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- Dysferlin [LOINC component]
- Dysferlin (substance) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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