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GENE - TERM ANNOTATION REPORT

RGD ID: 12390015
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: GDPD3
Name: glycerophosphodiester phosphodiesterase domain containing 3
Acc ID: DOID:0090053
Term: episodic kinesigenic dyskinesia 1
Definition: A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia "DO" "DO", https://www.omim.org/entry/128200 "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)
GDPD3 ISOGDPD3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesiaPMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:2825199 PMID:28492532
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