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GENE - TERM ANNOTATION REPORT

RGD ID: 61992
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gch1
Name: GTP cyclohydrolase 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)
Gch1 ISOGCH1 (Homo sapiens)1601280RGDdopa-responsive dystonia,OMIM:128230;DNA:point mutations:R88W,D134V 
Gch1 ISOGCH1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:15389992
Gch1 ISOGCH1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dystonic disorderPMID:16199547 PMID:19491146 PMID:25741868 PMID:28492532 PMID:8619546
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