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GENE - TERM ANNOTATION REPORT

RGD ID: 10215
Species: Mus musculus
RGD Object: Gene
Symbol: Atp7a
Name: ATPase, Cu++ transporting, alpha polypeptide
Acc ID: DOID:10595
Term: Charcot-Marie-Tooth disease
Definition: A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. (DO)
Definition Source(s): https://www.genome.gov/11009201 "DO" "DO", https://www.genome.gov/Genetic-Disorders/Charcot-Marie-Tooth-Disease "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)
Atp7a ISOATP7A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth diseasePMID:14985388 PMID:19153371 PMID:20170900 PMID:22210628 PMID:28119449 PMID:28492532
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