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GENE - TERM ANNOTATION REPORT

RGD ID: 631441
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ppp2r2b
Name: protein phosphatase 2, regulatory subunit B, beta
Acc ID: DOID:0050962
Term: spinocerebellar ataxia type 12
Definition: An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/10476/spinocerebellar-ataxia-12 "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)
Ppp2r2b ISOPPP2R2B (Homo sapiens)7240710OMIM  
Ppp2r2b ISOPPP2R2B (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Ppp2r2b ISOPPP2R2B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PPP2R2B-related disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia type 12PMID:25741868
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