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GENE - TERM ANNOTATION REPORT

RGD ID: 18913041
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Il2rb
Name: interleukin 2 receptor subunit beta
Acc ID: DOID:0090036
Term: myoclonic dystonia 26
Definition: A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/myoclonus-dystonia "DO" "DO", MIM:616398 "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)
Il2rb ISOIL2RB (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myoclonic dystonia 26PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
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