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GENE - TERM ANNOTATION REPORT

RGD ID: 736272
Species: Mus musculus
RGD Object: Gene
Symbol: Hfe
Name: homeostatic iron regulator
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)
Hfe ISOHFE (Homo sapiens)1358657RGDwith Tf C2 variant;DNA:missense mutation:cds:p.C282Y (human) 
Hfe ISOHFE (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:15060098 PMID:17047092
Hfe ISOHFE (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer's diseasePMID:10194428 PMID:10660483 PMID:11336458 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12377814 PMID:12429850 PMID:12885340 PMID:14673107 PMID:15347835 PMID:15546588 PMID:16132052 PMID:16186539 PMID:17042772 PMID:17210810 PMID:17308297 PMID:17600748 PMID:18566337 PMID:19159930 PMID:19554541 PMID:19560233 PMID:19681031 PMID:20107990 PMID:20301613 PMID:20560808 PMID:21243428 PMID:21349849 PMID:21452290 PMID:23178241 PMID:23429074 PMID:24033266 PMID:24729993 PMID:25741868 PMID:26153218 PMID:26365338 PMID:26975792 PMID:27173269 PMID:28280078 PMID:28443246 PMID:28492532 PMID:28617828 PMID:29404719 PMID:30291871 PMID:31220083 PMID:31980526 PMID:8696333 PMID:8896550 PMID:9162021 PMID:9356458 PMID:9462220
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