DisGeNET - a database of gene-disease associations

Pick Disease of the Brain, C0236642

Variant: rs1566650594 ×

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:

rs1566650594

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:

rs1566650594

PSEN1

0.700

CausalMutation

CLINVAR

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.

26194182

2015

dbSNP:

rs1566650594

PSEN1

0.700

CausalMutation

CLINVAR

Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.

20634584

2010