Gene: PSEN1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
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
dbSNP: rs1057518919
rs1057518919
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: rs63750306
rs63750306
PSEN1
0.010 GeneticVariation BEFREE The PS-1 M146V mutation was found in the 50-year-old subject (the proband) with family history of early-onset FTD. 23489366

2013
dbSNP: rs63750418
rs63750418
PSEN1
0.010 GeneticVariation BEFREE Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16). 23885714

2013
dbSNP: rs63750487
rs63750487
PSEN1
0.010 GeneticVariation BEFREE There are mutations, such as L226F, which may not present clear clinical symptoms for the definitive diagnosis between frontotemporal dementia and AD. 27785004

2016
dbSNP: rs63751068
rs63751068
PSEN1
0.010 GeneticVariation BEFREE Further clinical-genetic investigation showed a positive family history of FTD-like dementia and suggested that Gly183Val is associated with a phenotypically heterogeneous neurodegenerative disorder. 15122701

2004
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: rs1566630884
rs1566630884
PSEN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs63749836
rs63749836
PSEN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs63750083
rs63750083
PSEN1
A 0.700 CausalMutation CLINVAR Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro. 21373759

2011
dbSNP: rs63750083
rs63750083
PSEN1
A 0.700 CausalMutation CLINVAR Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families. 16628450

2006
dbSNP: rs63750083
rs63750083
PSEN1
A 0.700 CausalMutation CLINVAR The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families. 16897084

2006
dbSNP: rs63750083
rs63750083
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: rs63750083
rs63750083
PSEN1
A 0.700 CausalMutation CLINVAR Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes. 20634584

2010
dbSNP: rs63750083
rs63750083
PSEN1
A 0.700 CausalMutation CLINVAR Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease. 20145736

2010
dbSNP: rs63750526
rs63750526
PSEN1
A 0.700 CausalMutation CLINVAR Mutation analysis of patients with neurodegenerative disorders using NeuroX array. 25174650

2015
dbSNP: rs63750526
rs63750526
PSEN1
A 0.700 CausalMutation CLINVAR Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. 7596406

1995
dbSNP: rs63750526
rs63750526
PSEN1
A 0.700 CausalMutation CLINVAR Lysosomal alkalization and dysfunction in human fibroblasts with the Alzheimer's disease-linked presenilin 1 A246E mutation can be reversed with cAMP. 24418614

2014
dbSNP: rs63750526
rs63750526
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: rs63750526
rs63750526
PSEN1
A 0.700 CausalMutation CLINVAR Transgenic mice expressing the PS1-A246E mutation: effects on spatial learning, exploration, anxiety, and motor coordination. 12493631

2003
dbSNP: rs63750900
rs63750900
PSEN1
A 0.700 CausalMutation CLINVAR A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes. 9189043

1997
dbSNP: rs63750900
rs63750900
PSEN1
A 0.700 CausalMutation CLINVAR Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series. 27777022

2016
dbSNP: rs63750900
rs63750900
PSEN1
A 0.700 CausalMutation CLINVAR A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease. 8910898

1996