Gene: PSEN1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775543665
rs775543665
PSEN1
0.010 GeneticVariation BEFREE We found genetic etiology in 6 patients: 2 mutations in the PSEN1 gene (p.Pro264Ser and p.Phe105Cys) in the EOAD patients, C9orf72 expansion and MAPT (c.1920+16C>T), mutation in the FTD group of patients as well as MAPT (c.1920+16C>T) mutation and likely pathogenic mutation in the TYROBP mutation (p.Asp32Asn) in patients with unspecified diagnosis. 29930232

2018
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341

2017
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Presenilin 1 mutants impair the self-renewal and differentiation of adult murine subventricular zone-neuronal progenitors via cell-autonomous mechanisms involving notch signaling. 20484632

2010
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds. 27100199

2016
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing. 9680315

1997
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins. 17545141

2007
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. 24880964

2014
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Presenilin/γ-secretase regulates neurexin processing at synapses. 21559374

2011
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model. 24011544

2014
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease. 25741723

2015
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins. 22115042

2012
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production. 23843529

2013
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. 8634712

1995
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. 7596406

1995
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Dual roles of the transmembrane protein p23/TMP21 in the modulation of amyloid precursor protein metabolism. 17288597

2007
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees. 17553989

2007
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain. 27100200

2016
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Alzheimer's disease-associated presenilins 1 and 2: accelerated amyloid fibril formation of mutant 410 Cys-->Tyr and 141 Asn-->Ile peptides. 9196071

1997
dbSNP: rs63751399
rs63751399
PSEN1
0.810 GeneticVariation BEFREE Interestingly, two presenilin 1 (PS1) mutations (Leu113Pro and insArg352) recently have been associated with familial FTD albeit without neuropathological confirmation. 15122701

2004
dbSNP: rs63751399
rs63751399
PSEN1
C 0.810 CausalMutation CLINVAR

dbSNP: rs63751399
rs63751399
PSEN1
0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs63751287
rs63751287
PSEN1
G 0.710 CausalMutation CLINVAR A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies. 11684347

2001
dbSNP: rs63751287
rs63751287
PSEN1
G 0.710 CausalMutation CLINVAR PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder. 29316780

2018
dbSNP: rs63751287
rs63751287
PSEN1
G 0.710 CausalMutation CLINVAR Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD. 27014058

2016
dbSNP: rs63751287
rs63751287
PSEN1
0.710 GeneticVariation BEFREE The authors describe a PS-1 (M233L) mutation with the features of frontotemporal dementia (FTD) and review the literature. 16948293

2006