DisGeNET - a database of gene-disease associations

Alzheimer disease, familial, type 3, C1843013

Gene: PSEN1 ×

Source: UNIPROT ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121917808

PSEN1

0.800

GeneticVariation

UNIPROT

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

29175279

2018

dbSNP:

rs63749891

PSEN1

0.800

GeneticVariation

UNIPROT

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

29175279

2018

dbSNP:

rs63750053

PSEN1

0.800

GeneticVariation

UNIPROT

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

29175279

2018

dbSNP:

rs63750082

PSEN1

0.800

GeneticVariation

UNIPROT

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

29175279

2018

dbSNP:

rs63750083

PSEN1

0.800

GeneticVariation

UNIPROT

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

29175279

2018

dbSNP:

rs63750231

PSEN1

0.800

GeneticVariation

UNIPROT

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

29175279

2018

dbSNP:

rs63750265

PSEN1

0.800

GeneticVariation

UNIPROT

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

29175279

2018

dbSNP:

rs63750306

PSEN1

0.800

GeneticVariation

UNIPROT

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

29175279

2018

dbSNP:

rs63750391

PSEN1

0.800

GeneticVariation

UNIPROT

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

29175279

2018

dbSNP:

rs63750450

PSEN1

0.800

GeneticVariation

UNIPROT

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

29175279

2018

dbSNP:

rs63750526

PSEN1

0.800

GeneticVariation

UNIPROT

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

29175279

2018

dbSNP:

rs63750577

PSEN1

0.800

GeneticVariation

UNIPROT

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

29175279

2018

dbSNP:

rs63750590

PSEN1

0.800

GeneticVariation

UNIPROT

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

29175279

2018

dbSNP:

rs63750687

PSEN1

0.800

GeneticVariation

UNIPROT

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

29175279

2018

dbSNP:

rs121917808

PSEN1

0.800

GeneticVariation

UNIPROT

Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

27930341

2017

dbSNP:

rs63749891

PSEN1

0.800

GeneticVariation

UNIPROT

Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

27930341

2017

dbSNP:

rs63750053

PSEN1

0.800

GeneticVariation

UNIPROT

Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

27930341

2017

dbSNP:

rs63750082

PSEN1

0.800

GeneticVariation

UNIPROT

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

PSEN1

0.800

GeneticVariation

UNIPROT

Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

27930341

2017

dbSNP:

rs63750231

PSEN1

0.800

GeneticVariation

UNIPROT

Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

27930341

2017

dbSNP:

rs63750265

PSEN1

0.800

GeneticVariation

UNIPROT

Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

27930341

2017

dbSNP:

rs63750306

PSEN1

0.800

GeneticVariation

UNIPROT

Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

27930341

2017

dbSNP:

rs63750391

PSEN1

0.800

GeneticVariation

UNIPROT

Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

27930341

2017

dbSNP:

rs63750450

PSEN1

0.800

GeneticVariation

UNIPROT

Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

27930341

2017

dbSNP:

rs63750526

PSEN1

0.800

GeneticVariation

UNIPROT

Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

27930341

2017