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GENE - TERM ANNOTATION REPORT

RGD ID: 735594
Species: Homo sapiens
RGD Object: Gene
Symbol: LDLR
Name: low density lipoprotein receptor
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)
LDLR IAGP 5490239RGDDNA:SNPs: :rs5925, rs2738444, rs11669576 (human) 
LDLR IAGP 5490242RGDDNA:SNPs:exon (human) 
LDLR IAGP 5490244RGDDNA:SNPs:exon:rs5925, rs5927, rs5930 (human) 
LDLRno_associationIAGP 5490241RGDDNA:SNPs:exon:rs5925, rs5930, rs11669576 (human) 
LDLRno_associationIAGP 5490243RGDDNA:SNPs:exon:rs5925, rs5927, rs5930 (human) 
LDLR ISOLdlr (Mus musculus)5490231RGD  
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