|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term). (Orphanet Rare Disease Ontology, Orphanet_79258)|
|Downloads & Tools|
1 genes associated with the Glycogen storage disease type 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|G6PC||glucose-6-phosphatase, catalytic subunit|