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GENE - TERM ANNOTATION REPORT

RGD ID: 12255685
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: TARDBP
Name: TAR DNA binding protein
Acc ID: DOID:9255
Term: frontotemporal dementia
Definition: A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Frontotemporal_dementia "DO" "DO", http://www.mayoclinic.org/diseases-conditions/frontotemporal-dementia/basics/definition/con-20023876 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21121521 "DO" "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/673/viewAbstract "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)
TARDBP ISOTARDBP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementiaPMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 PMID:24033266 PMID:26467025 PMID:28492532
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