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GENE - TERM ANNOTATION REPORT

RGD ID: 1615931
Species: Mus musculus
RGD Object: Gene
Symbol: Tor1a
Name: torsin family 1, member A (torsin A)
Acc ID: DOID:0060730
Term: torsion dystonia 1
Definition: A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11912106 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9288096 "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)
Tor1a ISOTOR1A (Homo sapiens)7240710OMIM  
Tor1a ISOTOR1A (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Tor1a ISOTOR1A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dystonia 1, torsion, autosomal dominant | ClinVar Annotator: match by term: Dystonia-1, torsionPMID:11523564 PMID:12391338 PMID:12391355 PMID:12402271 PMID:17503336 PMID:18477710 PMID:18519876 PMID:19955557 PMID:24033266 PMID:24930953 PMID:24931141 PMID:25741868 PMID:27168150 PMID:27477622 PMID:28492532 PMID:30244176 PMID:31321303 PMID:32243914 PMID:34008892 PMID:34298581 PMID:9288096
Tor1a IAGP 13592920MouseDOOMIM:128100 
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