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GENE - TERM ANNOTATION REPORT

RGD ID: 1642882
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Rab1b
Name: RAB1B, member RAS oncogene family
Acc ID: DOID:2746
Term: glycogen storage disease V
Definition: A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13. (DO)
Definition Source(s): https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v/ "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)
Rab1b ISORAB1B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type VPMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 PMID:8316268
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