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GENE - TERM ANNOTATION REPORT

RGD ID: 727915
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cyp27a1
Name: cytochrome P450, family 27, subfamily a, polypeptide 1
Acc ID: DOID:543
Term: dystonia
Definition: A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements. (DO)
Definition Source(s): https://rarediseases.org/rare-diseases/dystonia/ "DO" "DO", https://www.mayoclinic.org/diseases-conditions/dystonia/symptoms-causes/syc-20350480 "DO" "DO", https://www.ninds.nih.gov/disorders/patient-caregiver-education/fact-sheets/dystonias-fact-sheet "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)
Cyp27a1 ISOCYP27A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Regression of motor development with severe dystonia and corresponding basal ganglia lesionsPMID:25558065 PMID:25741868 PMID:26643207 PMID:28492532
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