DisGeNET - a database of gene-disease associations

rs63750444, PSEN1

N. diseases: 4

Disease: Alzheimer's Disease ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Alzheimer's Disease

CUI:	C0002395
Disease:	Alzheimer's Disease

0.010

GeneticVariation

BEFREE

The reported PS1-G217D iPSC line may be used to model and study human AD pathology in vitro.

2019