DisGeNET - a database of gene-disease associations

Pick Disease of the Brain, C0236642

Variant: rs63750450 ×

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:

rs63750450

PSEN1

0.700

CausalMutation

CLINVAR

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

28350801

2017

dbSNP:

rs63750450

PSEN1

0.700

CausalMutation

CLINVAR

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.

27777022

2016

dbSNP:

rs63750450

PSEN1

0.700

CausalMutation

CLINVAR

APP metabolism regulates tau proteostasis in human cerebral cortex neurons.

25921538

2015

dbSNP:

rs63750450

PSEN1

0.700

CausalMutation

CLINVAR

Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.

9384602

1998