rs63750301, PSEN1

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.040 GeneticVariation BEFREE Stress-responsive MAP kinase pathways were activated in the brain of the Tg2576/PS1(P264L) AD model, and this activation was coincident with the age-dependent increase in amyloid deposition, tau phosphorylation, and loss of synaptophysin. 11978814 2002
Primary Progressive Aphasia (disorder)
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
0.010 GeneticVariation BEFREE We report clinical, neuropsychological, and neuroimaging data in the case of a 47-year-old woman presenting with non-fluent PPA due to a genetically confirmed pathogenic Presenilin 1 P264L mutation. 23579325 2013
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
0.010 GeneticVariation BEFREE This case highlights an unusual clinical presentation of familial Alzheimer's disease and a novel presentation of the P264L mutation. 23579325 2013