MTM1 Gene - CISMeF

Preferred Label : MTM1 Gene;

NCIt synonyms : Myotubularin 1 Gene; MTM1;

NCIt definition : This gene plays a role in the dephosphorylation of phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2).;

Details

Origin ID

C203822;

UMLS CUI

C1417434;

HGNC gene
- myotubularin 1 [HGNC gene]
OMIM relation
- Myotubularin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- MTM1 gene [LOINC component]
- Myotubularin [OMIM gene]
- myotubularin 1 [HGNC gene]
gene_encodes_gene_product
- Myotubularin [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- X-Linked Centronuclear Myopathy [NCIt concept]
gene_plays_role_in_process
- Dephosphorylation [NCIt concept]
- Hydrolysis [NCIt concept]
- Phospholipid Metabolism [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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