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GENE - TERM ANNOTATION REPORT

RGD ID: 1602336
Species: Homo sapiens
RGD Object: Gene
Symbol: TSC22D2
Name: TSC22 domain family member 2
Acc ID: DOID:0050579
Term: glycogen storage disease XV
Definition: A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1. (DO)
Definition Source(s): MIM:613507 "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)
TSC22D2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Glycogen storage disease XVPMID:20357282 PMID:25272951 PMID:28492532
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