Glycogen storage disease type 1A Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
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1 genes associated with the Glycogen storage disease type 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
G6PC glucose-6-phosphatase, catalytic subunit