DisGeNET - a database of gene-disease associations

Frontotemporal dementia, C0338451

Variant: rs63751287 ×

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:

rs63751287

PSEN1

0.710

CausalMutation

CLINVAR

PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.

29316780

2018

dbSNP:

rs63751287

PSEN1

0.710

CausalMutation

CLINVAR

Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.

27014058

2016

dbSNP:

rs63751287

PSEN1

0.710

GeneticVariation

BEFREE

The authors describe a PS-1 (M233L) mutation with the features of frontotemporal dementia (FTD) and review the literature.

16948293

2006

dbSNP:

rs63751287

PSEN1

0.710

CausalMutation

CLINVAR

A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies.

11684347

2001