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GENE - TERM ANNOTATION REPORT

RGD ID: 1313183
Species: Homo sapiens
RGD Object: Gene
Symbol: AFG3L2
Name: AFG3 like matrix AAA peptidase subunit 2
Acc ID: HP:0002487
Term: Hyperkinetic movements
Definition: Motor hyperactivity with excessive movement of muscles of the body as a whole.
Definition Source(s): https://orcid.org/0000-0002-0736-9199
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)
AFG3L2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hyperkinesis

PMID:25741868 PMID:26467025 PMID:28492532 PMID:32219868
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