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GENE - TERM ANNOTATION REPORT

RGD ID: 68419
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pfkm
Name: phosphofructokinase, muscle
Acc ID: DOID:2747
Term: glycogen storage disease
Definition: A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism "DO" "DO", http://en.wikipedia.org/wiki/Glycogen_storage_disease "DO" "DO", http://www.slideshare.net/anjupaed/glcogen-storage-disorders "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)
Pfkm ISOPFKM (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Glycogen storage diseasePMID:24033266 PMID:25741868 PMID:28492532 PMID:7825568 PMID:8037209 PMID:8880699 PMID:9389749
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