Protein o-mannose beta-1,2-n-acetylglucosaminyltransferase

Preferred Label : Protein o-mannose beta-1,2-n-acetylglucosaminyltransferase;

Symbol : POMGNT1;

CISMeF acronym : POMGNT1;

Type : Gene;

Ensembl ID : ENSG00000085998;

Prefixed ID : *606822;

Details

Origin ID

606822;

UMLS CUI

C1826644;

Automatic exact mappings (from CISMeF team)
- POMGNT1 gene [LOINC component]
- protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [ORDO Gene]
- protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [HGNC gene]
- protein O-mannose beta-1,2-N-acetylglucosaminyltransferase [MeSH Supplementary Concept]
- protein O-mannose beta-1,2-N-acetylglucosaminyltransferase [MeSH concept]
HGNC gene
- protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [HGNC gene]
NCIt concept(s)
- POMGNT1 Gene [NCIt concept]
- POMGNT1 wt Allele [NCIt concept]
- Protein O-Linked-Mannose Beta-1,2-N-Acetylglucosaminyltransferase 1 [NCIt concept]
ORDO concept(s)
- protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [ORDO Gene]
Phenotypes related
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 [OMIM Phenotype]
- Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3 [OMIM Phenotype]
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 [OMIM Phenotype]
- Retinitis pigmentosa 76 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- POMGNT1 Gene [NCIt concept]
- POMGNT1 gene [LOINC component]
- protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [HGNC gene]

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