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GENE - TERM ANNOTATION REPORT

RGD ID: 1305055
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Atp6v0a4
Name: ATPase H+ transporting V0 subunit a4
Acc ID: DOID:0060346
Term: Native American myopathy
Definition: A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18553514 "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)
Atp6v0a4 ISOATP6V0A4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bailey-Bloch congenital myopathyPMID:24033266 PMID:25741868 PMID:28492532
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