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GENE - TERM ANNOTATION REPORT

RGD ID: 735973
Species: Mus musculus
RGD Object: Gene
Symbol: Psen1
Name: presenilin 1
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)
Psen1 ISOPSEN1 (Homo sapiens)7240710OMIM  
Psen1 ISOPSEN1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:11094121
Psen1 ISOPSEN1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementiaPMID:10327206 PMID:11094121 PMID:11389157 PMID:11524469 PMID:11895378 PMID:12399144 PMID:12433263 PMID:12549925 PMID:14769392 PMID:15776278 PMID:17431506 PMID:18045903 PMID:19111578 PMID:20049724 PMID:20157243 PMID:20301414 PMID:20332427 PMID:20634584 PMID:21559374 PMID:22242180 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22956200 PMID:23638752 PMID:24463146 PMID:24559647 PMID:25285942 PMID:25299611 PMID:25323700 PMID:25741868 PMID:26337232 PMID:26467025 PMID:26756738 PMID:27264813 PMID:27930341 PMID:28269784 PMID:28492532 PMID:30054184 PMID:30279455 PMID:31153663 PMID:31235249 PMID:31914229 PMID:32087291 PMID:32917274 PMID:35949106 PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 PMID:8905716 PMID:8962160 PMID:8986743 PMID:9521423 PMID:9804121
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