1,4-alpha-glucan branching enzyme 1

Preferred Label : 1,4-alpha-glucan branching enzyme 1;

Approved symbol HGNC : GBE1;

Name synonyms HGNC : glycogen storage disease type IV; Andersen disease; glycogen branching enzyme;

Chromosome HGNC : 3p12.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000114480;

Details

Origin ID

HGNC:4180;

UMLS CUI

C1415001;

Automatic exact mappings (from CISMeF team)
- 1,4-alpha-Glucan branching enzyme [MeSH Descriptor]
- 1,4-alpha-glucan branching enzyme 1 [ORDO Gene]
- Andersen disease [MedDRA LLT]
- Dilated cardiomyopathy due to glycogen branching enzyme deficiency [ICD-11 More detail]
- Glycogen Storage Disease Type IV [NCIt concept]
- Glycogen branching enzyme [OMIM gene]
- Glycogen storage disease iv [OMIM Phenotype]
- Glycogen storage disease type IV [MedDRA Preferred Term]
- Glycogen storage disease, type IV (disorder) [SNOMED CT concept]
- glycogen storage disease IV [DO Concept]
- glycogen storage disease type IV [MeSH concept]
- glycogen storage disease type iv [MeSH Descriptor]
- glycogen storage disease, type iv [SNOMED Notion]
OMIM gene
- Glycogen branching enzyme [OMIM gene]
Orphanet gene
- 1,4-alpha-glucan branching enzyme 1 [ORDO Gene]
See also inter- (CISMeF)
- Glycogen storage disease due to glycogen branching enzyme deficiency [ORDO Disease]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen branching enzyme [OMIM gene]

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