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GENE - TERM ANNOTATION REPORT

RGD ID: 733569
Species: Homo sapiens
RGD Object: Gene
Symbol: PSEN2
Name: presenilin 2
Acc ID: HP:0002511
Term: Alzheimer disease
Definition: A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.
Definition Source(s): https://orcid.org/0000-0002-0736-9199
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)
PSEN2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Alzheimer disease

PMID:11723295 PMID:15663477 PMID:23861362 PMID:25104557 PMID:26836416 PMID:28492532 PMID:32087291
PSEN2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Alzheimer disease

PMID:14623725 PMID:15663477 PMID:17186461 PMID:17345043 PMID:22503161 PMID:23383383 PMID:23558482 PMID:23861362 PMID:24880964 PMID:25104557 PMID:25604855 PMID:25741868 PMID:25937274 PMID:26242991 PMID:26467025 PMID:26507310 PMID:26899768 PMID:28492532 PMID:30045758 PMID:32032730 PMID:32917274
PSEN2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Alzheimer disease

PMID:15130954 PMID:15663477 PMID:16474849 PMID:17914065 PMID:18667258 PMID:19768372 PMID:20194882 PMID:21409510 PMID:22221884 PMID:22312439 PMID:22475797 PMID:22503161 PMID:23383383 PMID:23861362 PMID:23990795 PMID:25104557 PMID:25604855 PMID:25741868 PMID:25937274 PMID:26159191 PMID:26410308 PMID:26467025 PMID:28492532 PMID:30279455 PMID:31914229 PMID:32087291 PMID:32345996 PMID:32917274 PMID:9384602
PSEN2 IAGP 8699517HPO OMIM:606889
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