POMT2 Gene - CISMeF

Preferred Label : POMT2 Gene;

NCIt synonyms : Protein O-Mannosyltransferase 2 Gene;

NCIt related terms : POMT2;

NCIt definition : This gene plays a role in O-mannosylation of proteins.;

Details

Origin ID

C204533;

UMLS CUI

C1426379;

HGNC gene
- protein O-mannosyltransferase 2 [HGNC gene]
OMIM relation
- Protein o-mannosyltransferase 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- POMT2 gene [LOINC component]
- Protein o-mannosyltransferase 2 [OMIM gene]
- protein O-mannosyltransferase 2 [HGNC gene]
gene_encodes_gene_product
- Protein O-Mannosyl-Transferase 2 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B2 [NCIt concept]
- Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 2 [NCIt concept]
gene_plays_role_in_process
- Glycosylation [NCIt concept]
- Protein Glycosylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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