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GENE - TERM ANNOTATION REPORT

RGD ID: 12606277
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Pygm
Name: glycogen phosphorylase, muscle associated
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)
Pygm ISOPYGM (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Glycogen storage diseasePMID:16924035 PMID:17324573 PMID:17404776 PMID:25240406 PMID:25741868 PMID:28492532 PMID:29143597 PMID:29926259 PMID:30316539 PMID:33234167 PMID:34534370
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