Acetylglucosaminyltransferase-like protein

Preferred Label : Acetylglucosaminyltransferase-like protein;

Symbol : LARGE1;

CISMeF acronym : LARGE1;

Type : Gene;

Alternative titles and symbols : LARGE; KIAA0609; LIKE-GLYCOSYLTRANSFERASE;

Ensembl ID : ENSG00000133424;

Prefixed ID : *603590;

Details

Origin ID

603590;

UMLS CUI

C1416798;

Automatic exact mappings (from CISMeF team)
- LARGE xylosyl- and glucuronyltransferase 1 [ORDO Gene]
- LARGE xylosyl- and glucuronyltransferase 1 [HGNC gene]
- Large [NCIt concept]
- Large [ICNP judgement]
- Large (qualifier value) [SNOMED CT concept]
- adaptor related protein complex 2 subunit alpha 2 [HGNC gene]
- large [Radlex concept]
HGNC gene
- LARGE xylosyl- and glucuronyltransferase 1 [HGNC gene]
NCIt concept(s)
- LARGE1 Gene [NCIt concept]
- LARGE1 wt Allele [NCIt concept]
- Xylosyl- and Glucuronyltransferase LARGE1 [NCIt concept]
ORDO concept(s)
- LARGE xylosyl- and glucuronyltransferase 1 [ORDO Gene]
Phenotypes related
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 [OMIM Phenotype]
- Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 6 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- LARGE xylosyl- and glucuronyltransferase 1 [HGNC gene]

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