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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:0090049
Term: paroxysmal nonkinesigenic dyskinesia 1
Definition: A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/28090678 "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)7240710OMIM  
PNKD ISOPNKD (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1PMID:15262732 PMID:15496428 PMID:15824259 PMID:16199547 PMID:16216955 PMID:16632198 PMID:17576681 PMID:19124534 PMID:20301400 PMID:21487022 PMID:22967746 PMID:24033266 PMID:25107857 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28893297 PMID:8659518 PMID:9490305 PMID:9536098
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