DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Frontotemporal dementia ×

Variant: rs63751399 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs63751399

PSEN1

CUI:	C0338451
Disease:	Frontotemporal dementia

Frontotemporal dementia

0.810

GeneticVariation

UNIPROT

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

20298421

2010

dbSNP:

rs63751399

PSEN1

CUI:	C0338451
Disease:	Frontotemporal dementia

Frontotemporal dementia

0.810

CausalMutation

CLINVAR