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GENE - TERM ANNOTATION REPORT

RGD ID: 737318
Species: Homo sapiens
RGD Object: Gene
Symbol: ACTG2
Name: actin gamma 2, smooth muscle
Acc ID: HP:0001332
Term: Dystonia
Definition: An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
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)
ACTG2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dystonia

PMID:16697227 PMID:16752391 PMID:22522443 PMID:23542699 PMID:28492532 PMID:30682498
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