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GENE - TERM ANNOTATION REPORT

RGD ID: 11160
Species: Mus musculus
RGD Object: Gene
Symbol: Prnp
Name: prion protein
Acc ID: DOID:10652
Term: Alzheimer's disease
Definition: A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Alzheimer%27s_disease "DO" "DO", http://www.merriam-webster.com/medical/alzheimer%27s%20disease "DO" "DO", http://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-fact-sheet "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)
Prnp ISOPRNP (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:17192785
Prnp ISOPRNP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Alzheimer disease, early-onset, susceptibility toPMID:10437852 PMID:10581230 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11840201 PMID:12601712 PMID:12867116 PMID:12891686 PMID:1353341 PMID:14520676 PMID:14562104 PMID:14970845 PMID:15277640 PMID:15539564 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16391566 PMID:16565881 PMID:1677164 PMID:1682813 PMID:1684089 PMID:16969862 PMID:18955686 PMID:1971924 PMID:19923577 PMID:2378641 PMID:25741868 PMID:2783132 PMID:28492532 PMID:7908444 PMID:8137139 PMID:9643750 PMID:9748018 PMID:9751723 PMID:9789072
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