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GENE - TERM ANNOTATION REPORT

RGD ID: 18751208
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: PDCD10
Name: programmed cell death 10
Acc ID: DOID:0050831
Term: familial encephalopathy with neuroserpin inclusion bodies
Definition: A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies "DO" "DO", http://www.jbc.org/content/277/19/17367 "DO" "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport "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)
PDCD10 ISOPDCD10 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodiesPMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532
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