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GENE - TERM ANNOTATION REPORT

RGD ID: 18501348
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: SLC37A4
Name: solute carrier family 37 member 4
Acc ID: DOID:2749
Term: glycogen storage disease Ia
Definition: 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)
Definition Source(s): http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/8211187/ "DO" "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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
SLC37A4 ISOSLC37A4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hepatorenal glycogenosisPMID:20578944 PMID:25741868 PMID:28492532
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