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GENE - TERM ANNOTATION REPORT

RGD ID: 70836
Species: Homo sapiens
RGD Object: Gene
Symbol: LPL
Name: lipoprotein lipase
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)
LPL IAGP 5685661RGDDNA:SNPs: :rs268, rs328 (human) 
LPL IAGP 13793396RGDDNA:polymorphism:intron 
LPL IAGP 13799353RGDDNA:point mutations: :p.N291S, p.S447X (human) 
LPLno_associationIAGP 13793395RGDDNA:SNPs: :multiple 
LPLno_associationIAGP 13793397RGDDNA:point mutations: :p.N291S, p.S447X (human) 
LPLseverityIAGP 13793393RGDDNA, mRNA:SNP, decreased expression: :rs285 (human) 
LPL IEP 13793392RGD  
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