DisGeNET - a database of gene-disease associations

Pick Disease of the Brain, C0236642

Variant: rs63750231 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs63750231

PSEN1

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:

rs63750231

PSEN1

0.700

CausalMutation

CLINVAR

Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation.

25471389

2015

dbSNP:

rs63750231

PSEN1

0.700

CausalMutation

CLINVAR

The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells.

24217025

2014

dbSNP:

rs63750231

PSEN1

0.700

CausalMutation

CLINVAR

Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation.

22766738

2012

dbSNP:

rs63750231

PSEN1

0.700

CausalMutation

CLINVAR

Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase.

22461631

2012

dbSNP:

rs63750231

PSEN1

0.700

CausalMutation

CLINVAR

The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.

7550356

1995