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GENE - TERM ANNOTATION REPORT

RGD ID: 13920827
Species: Sus scrofa
RGD Object: Gene
Symbol: DRD2
Name: dopamine receptor D2
Acc ID: DOID:0090034
Term: myoclonic dystonia 11
Definition: A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/myoclonus-dystonia "DO" "DO", https://www.omim.org/entry/159900 "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)
DRD2 ISODRD2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myoclonic dystonia 11PMID:10220438 PMID:10716258 PMID:12402271
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