Myotubularin - CISMeF

Preferred Label : Myotubularin;

Symbol : MTM1;

CISMeF acronym : MTM1;

Type : Gene;

Ensembl ID : ENSG00000171100;

Prefixed ID : *300415;

Details

Origin ID

300415;

UMLS CUI

C1417434;

Automatic exact mappings (from CISMeF team)
- X-Linked Centronuclear Myopathy [NCIt concept]
- centronuclear myopathy X-linked [DO Concept]
- myotubularin [MeSH concept]
- myotubularin [MeSH Supplementary Concept]
- myotubularin 1 [ORDO Gene]
Currated CISMeF NLP mapping
- MTM1 gene [LOINC component]
- myotubularin 1 [HGNC gene]
HGNC gene
- myotubularin 1 [HGNC gene]
NCIt concept(s)
- MTM1 Gene [NCIt concept]
- MTM1 wt Allele [NCIt concept]
- Myotubularin [NCIt concept]
ORDO concept(s)
- myotubularin 1 [ORDO Gene]
Phenotypes related
- Myopathy, centronuclear, X-linked [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- MTM1 Gene [NCIt concept]
- MTM1 gene [LOINC component]
- myotubularin 1 [HGNC gene]

Keyword's position in hierarchy(ies) :

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