DYSF Gene - CISMeF

Preferred Label : DYSF Gene;

NCIt synonyms : Dysferlin, Limb Girdle Muscular Dystrophy 2B (Autosomal Recessive) Gene; DYSF;

CISMeF acronym : DYSF;

NCIt definition : This gene plays a role in muscle contraction and plasma membrane dynamics.;

Details

Origin ID

C94680;

UMLS CUI

C1414209;

Automatic exact mappings (from CISMeF team)
- DYSF gene [LOINC component]
- Dysferlin [OMIM gene]
- Dysferlin-related limb-girdle muscular dystrophy R2 [ORDO Disease]
- dysferlin [ORDO Gene]
HGNC gene
- dysferlin [HGNC gene]
OMIM relation
- Dysferlin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- DYSF gene [LOINC component]
- Dysferlin [OMIM gene]
- dysferlin [HGNC gene]
gene_associated_with_disease
- Distal Muscular Dystrophy [NCIt concept]
- Limb-Girdle Muscular Dystrophy [NCIt concept]
gene_encodes_gene_product
- Dysferlin [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Limb-Girdle Muscular Dystrophy Type 2B [NCIt concept]
- Miyoshi Muscular Dystrophy 1 [NCIt concept]
gene_plays_role_in_process
- Calcium Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Muscle Contraction [NCIt concept]

Keyword's position in hierarchy(ies) :

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