A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21. (DO)
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction
is comprised of a complex set of reactions and/or regulatory events, possibly involving
additional chemicals and/or gene products.
ClinVar Annotator: match by term: GSD Ia | ClinVar Annotator: match by term: Glycogen storage disease type 1A | ClinVar Annotator: match by term: Hepatorenal glycogenosis