DisGeNET - a database of gene-disease associations

PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155

Disease: Familial Alzheimer Disease (FAD) ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs63750231

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.100

GeneticVariation

BEFREE

Generation of one iPSC line (IMEDEAi006-A) from an early-onset familial Alzheimer's Disease (fAD) patient carrying the E280A mutation in the PSEN1 gene.

31026686

2019

dbSNP:

rs63750231

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.100

GeneticVariation

BEFREE

iPSCs-derived nerve-like cells from familial Alzheimer's disease PSEN 1 E280A reveal increased amyloid-beta levels and loss of the Y chromosome.

30904577

2019

dbSNP:

rs63750526

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.100

GeneticVariation

BEFREE

To test this, we isolated EVs from iPSC-derived neuronal cultures generated from an fAD patient harboring a A246E mutation to presenilin-1 and stereotactically injected these EVs into the hippocampi of wild-type C57BL/6 mice.

31594233

2019

dbSNP:

rs63751037

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.020

GeneticVariation

BEFREE

Two novel variants (APP: p.D244G, p.K687Q), 3 variants not previously associated with FAD (APP: p.T297M, p.D332G; PSEN1: p.R157S), and 7 previously reported pathogenic variants (APP: p.V717I; PSEN1: p.M139I, p.T147I, p.L173W, p.F177S, p.R269H; PSEN2: p.V139M) were identified.

30598257

2019

dbSNP:

rs201617677

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.010

GeneticVariation

BEFREE

30598257

2019

dbSNP:

rs63749806

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.010

GeneticVariation

BEFREE

30598257

2019

dbSNP:

rs63750299

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.010

GeneticVariation

BEFREE

30598257

2019

dbSNP:

rs63750522

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.010

GeneticVariation

BEFREE

30598257

2019

dbSNP:

rs63750900

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.010

GeneticVariation

BEFREE

30598257

2019

dbSNP:

rs63750907

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.010

GeneticVariation

BEFREE

30598257

2019

dbSNP:

rs63750526

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.100

GeneticVariation

BEFREE

Generation and characterization of human induced pluripotent stem cell lines from a familial Alzheimer's disease PSEN1 A246E patient and a non-demented family member bearing wild-type PSEN1.

30138848

2018

dbSNP:

rs63749805

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.050

GeneticVariation

BEFREE

Difficult case of a rare form of familial Alzheimer's disease with PSEN1 P117L mutation.

30567237

2018

dbSNP:

rs63750577

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.010

GeneticVariation

BEFREE

Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1.

29466804

2018

dbSNP:

rs17125721

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.050

GeneticVariation

BEFREE

Prediction results, together with previous reports, suggest a correlation between rs17125721 and AD.

28554858

2017

dbSNP:

rs115865530

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.010

GeneticVariation

BEFREE

The K311R mutation might contribute to AD pathogenesis by overproducing toxic Aβ species and enhancing tau phosphorylation.

28269784

2017

dbSNP:

rs63750231

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.100

GeneticVariation

BEFREE

This study aimed to determine Consortium to Establish a Registry for Alzheimer's Disease (CERAD) Neuropsychological Assessment Battery total score diagnostic accuracy in the diagnosis of mild cognitive impairment (MCI) and dementia in familial Alzheimer's disease (FAD) with E280A mutation on presenilin-1 gene (PSEN1).

26478578

2016

dbSNP:

rs63750001

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.020

GeneticVariation

BEFREE

Derivation of induced pluripotent stem cells from a familial Alzheimer's disease patient carrying the L282F mutation in presenilin 1.

27789396

2016

dbSNP:

rs63750730

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.010

GeneticVariation

BEFREE

Early psychiatrics symptoms in familial Alzheimer's disease with presenilin 1 mutation (I83T).

26695639

2016

dbSNP:

rs866914724

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.010

GeneticVariation

BEFREE

Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1.

27789395

2016

dbSNP:

rs63750231

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.100

GeneticVariation

BEFREE

They have been found to be affected in patients who meet criteria for familial Alzheimer's disease due to the mutation E280A of the PSEN1 gene.

25762465

2015

dbSNP:

rs63750001

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.020

GeneticVariation

BEFREE

Here, we generated Psen1 knockin (KI) mice carrying the FAD mutation L435F or C410Y.

25741723

2015

dbSNP:

rs63750082

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.010

GeneticVariation

BEFREE

Genetic Modifiers of Age at Onset in Carriers of the G206A Mutation in PSEN1 With Familial Alzheimer Disease Among Caribbean Hispanics.

26214276

2015

dbSNP:

rs63750231

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.100

GeneticVariation

BEFREE

We propose that PS1-E280A affects both Ca2+ homeostasis and Aβ precursor processing, leading to FAD and neurodegeneration.

24569455

2014

dbSNP:

rs63750526

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.100

GeneticVariation

BEFREE

In this study, we examined the effect of the PS1-fAD mutation A246E on lysosomal pH and lysosomal function, and asked whether restoration of lysosomal pH could reverse some of these changes.

24418614

2014

dbSNP:

rs63750306

Entrez Id:	5663
Gene Symbol:	PSEN1

PSEN1

CUI:	C0276496
Disease:

Familial Alzheimer Disease (FAD)

0.090

GeneticVariation

BEFREE

Here, we report that the expression of FAD-linked PS1 M146V mutant affects store-operated calcium channel activity (Isoc) in human neuroblastoma SK-N-SH cells.

23624206

2013