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GENE - TERM ANNOTATION REPORT

RGD ID: 14229475
Species: Sus scrofa
RGD Object: Gene
Symbol: PNKD
Name: PNKD metallo-beta-lactamase domain containing
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)
PNKD ISOPNKD (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Paroxysmal dystoniaPMID:15262732 PMID:15496428 PMID:15824259 PMID:16216955 PMID:20301400 PMID:25741868 PMID:28492532 PMID:8659518 PMID:9490305
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