Dysferlin - CISMeF

Preferred Label : Dysferlin;

Symbol : DYSF;

CISMeF acronym : DYSF;

Type : Gene;

Ensembl ID : ENSG00000135636;

Prefixed ID : *603009;

Details

Origin ID

603009;

UMLS CUI

C1414209;

Automatic exact mappings (from CISMeF team)
- DYSF Gene [NCIt concept]
- DYSF gene [LOINC component]
- Dysferlin [LOINC component]
- Dysferlin [MeSH Descriptor]
- Dysferlin [NCIt concept]
- Dysferlin (substance) [SNOMED CT concept]
- dysferlin [ORDO Gene]
- dysferlin [HGNC gene]
HGNC gene
- dysferlin [HGNC gene]
NCIt concept(s)
- DYSF Gene [NCIt concept]
- DYSF wt Allele [NCIt concept]
- Dysferlin [NCIt concept]
ORDO concept(s)
- dysferlin [ORDO Gene]
Phenotypes related
- Miyoshi muscular dystrophy 1 [OMIM Phenotype]
- Muscular dystrophy, limb-girdle, autosomal recessive 2 [OMIM Phenotype]
- Myopathy, distal, with anterior tibial onset [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- DYSF Gene [NCIt concept]
- DYSF gene [LOINC component]
- dysferlin [HGNC gene]

Keyword's position in hierarchy(ies) :

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