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GENE - TERM ANNOTATION REPORT

RGD ID: 1309068
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Adprs
Name: ADP-ribosylserine hydrolase
Acc ID: DOID:0070352
Term: stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Definition: A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speach, hearing loss, and cerebellar atrophy. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/30100084 "DO" "DO", https://www.omim.org/entry/618170 "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)
Adprs ISOADPRS (Homo sapiens)7240710OMIM  
Adprs ISOADPRS (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizuresPMID:25741868 PMID:30100084 PMID:30401461 PMID:34479984
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