glucose-6-phosphatase catalytic subunit 1

Preferred Label : glucose-6-phosphatase catalytic subunit 1;

Approved symbol HGNC : G6PC1;

Name synonyms HGNC : von Gierke disease; glycogen storage disease type I;

Alias symbols HGNC : GSD1a;

Chromosome HGNC : 17q21.31;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000131482;

Details

Origin ID

HGNC:4056;

UMLS CUI

C1414892;

Automatic exact mappings (from CISMeF team)
- Glucose-6-phosphatase, catalytic [OMIM gene]
- Glycogen Storage Disease Type I [NCIt concept]
- Glycogen storage disease due to glucose-6-phosphatase deficiency [ORDO Disease]
- Glycogen storage disease due to glucose-6-phosphate system deficiency [ICD-11 More detail]
- Glycogen storage disease ia [OMIM Phenotype]
- Glycogen storage disease type I [MedDRA Preferred Term]
- Glycogen storage disease, type I (disorder) [SNOMED CT concept]
- Type I glycogen storage disease [MedDRA LLT]
- Von Gierke's disease [MedDRA LLT]
- glucose-6-phosphatase catalytic subunit 1 [ORDO Gene]
- glycogen storage disease I [DO Concept]
- glycogen storage disease type I [MeSH concept]
- glycogen storage disease type I [Artificial nutrition thesaurus concept]
- glycogen storage disease type i [MeSH Descriptor]
- glycogen storage disease, type i [SNOMED Notion]
OMIM gene
- Glucose-6-phosphatase, catalytic [OMIM gene]
Orphanet gene
- glucose-6-phosphatase catalytic subunit 1 [ORDO Gene]
See also inter- (CISMeF)
- Glycogen Storage Disease Type Ia [NCIt concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- G6PC gene [LOINC component]
- Glucose-6-phosphatase, catalytic [OMIM gene]

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