rs765670175, PSEN1

N. diseases: 7
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
0.060 GeneticVariation BEFREE The best studied N141I mutation produces an Alzheimer's disease phenotype with a wide range of onset ages overlapping both early and late onset Alzheimer's disease, often associated with seizures, high penetrance and typical Alzheimer's disease neuropathology. 20375137 2010
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.060 GeneticVariation BEFREE Twenty-five familial AD cases with 9 known PSEN 1 mutations and 14 familial AD cases with a single PSEN 2 mutation (N141I) were examined for LBP using alpha-synuclein immunohistochemistry and sampling of multiple brainstem and cortical regions. 16533963 2006
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.060 GeneticVariation BEFREE This study demonstrates for the first time that COX-2 may be a downstream effector of mutant N141I PS2-mediated apoptotic cell death and that inhibition of COX-2 may neuroprotect in AD through modulation of a GSK-3beta-beta-catenin-mediated response. 16331303 2006
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.060 GeneticVariation BEFREE BrdU labeling was decreased in cells expressing presenilin-1 (PS1), presenilin-2 (PS2), an Alzheimer's disease-associated missense mutation PS2(N141I), and the carboxyl-terminally deleted PS2 construct PS2(166aa), compared with mock and neurofilament-light (NF-L) transfected cells. 10393846 1999
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.060 GeneticVariation BEFREE We describe a new mutation causing Alzheimer's disease (AD) in presenilin-1 (N135D) that is at the homologous site to the presenilin 2 mutation (N141I) in Volga German kindreds. 9225696 1997
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.060 GeneticVariation BEFREE Increased apoptosis arising from increased expression of the Alzheimer's disease-associated presenilin-2 mutation (N141I). 9334350 1997
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
0.030 GeneticVariation BEFREE We herein report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 141 (N141I) of the PSEN2 gene. 19073399 2008
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
0.030 GeneticVariation BEFREE Both, the N141I mutation and the V148I mutation described here are located within the predicted TM2 domain and both were found in late-onset AD kindreds, whereas the mutation within the predicted TM5 domain was found in an early-onset AD pedigree. 10732806 1998
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
0.030 GeneticVariation BEFREE Moreover, the AD- associated PS-2 missense mutation (N141I) more efficiently induced cell death compared to wild-type PS-2 despite lower mutant protein accumulation. 9334350 1997
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.020 GeneticVariation BEFREE We herein report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 141 (N141I) </span>of the PSEN2 gene. 19073399 2008
Dementia
CUI: C0497327
Disease: Dementia
0.020 GeneticVariation BEFREE We herein report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 141 (N141I) </span>of the PSEN2 gene. 19073399 2008
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.020 GeneticVariation BEFREE The study provides support for the potential pharmacogenomic identification of N141I PS2 FAD cases that might preferentially benefit from inhibition of COX-2 during the progression of clinical dementia. 16331303 2006
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
0.020 GeneticVariation BEFREE The study provides support for the potential pharmacogenomic identification of N141I PS2 FAD cases that might preferentially benefit from inhibition of COX-2 during the progression of clinical dementia. 16331303 2006
Dementia
CUI: C0497327
Disease: Dementia
0.020 GeneticVariation BEFREE The study provides support for the potential pharmacogenomic identification of N141I PS2 FAD cases that might preferentially benefit from inhibition of COX-2 during the progression of clinical dementia. 16331303 2006
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
0.020 GeneticVariation BEFREE The present study investigated the influence of two familial Alzheimer's-disease-linked presenilin2 variants (N141I and M239V) and a loss-of-function presenilin2 mutant (D263A) on the activity of the transient receptor potential canonical (TRPC)6 Ca(2+) entry channel. 15601622 2005
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
0.010 GeneticVariation BEFREE The best studied N141I mutation produces an Alzheimer's disease phenotype with a wide range of onset ages overlapping both early and late onset Alzheimer's disease, often associated with seizures, high penetrance and typical Alzheimer's disease neuropathology. 20375137 2010
Senile Plaques
CUI: C0333463
Disease: Senile Plaques
0.010 GeneticVariation BEFREE Immunocytochemical examination of brains from individuals with the N141I PS2 mutation or eight different PS1 mutations, spanning the molecule from the second transmembrane domain to the large cytoplasmic loop domain, revealed immunodecoration of no senile plaques and only neurofibrillary tangles in the M139I PS1 mutation stained with PS1 antibodies. 11126202 2000