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GENE - TERM ANNOTATION REPORT

RGD ID: 736908
Species: Mus musculus
RGD Object: Gene
Symbol: Spr
Name: sepiapterin reductase
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)
SprsusceptibilityISOSPR (Homo sapiens)1600054RGDDNA:deletion, transitions 
Spr ISOSPR (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonia 1 | ClinVar Annotator: match by term: Dystonic disorderPMID:11443547 PMID:16697227 PMID:16752391 PMID:16917893 PMID:17159114 PMID:17576681 PMID:18502672 PMID:19130291 PMID:19491146 PMID:21431957 PMID:21677200 PMID:22291068 PMID:22522443 PMID:23430877 PMID:23542699 PMID:23640889 PMID:24212389 PMID:24588500 PMID:25741868 PMID:25763508 PMID:28492532 PMID:29116116 PMID:29147684 PMID:30682498 PMID:31041399 PMID:32581362 PMID:33098801 PMID:33822819 PMID:34324503 PMID:35872528 PMID:35926683 PMID:9536098
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