DisGeNET - a database of gene-disease associations

Presenile dementia, C0011265

Variant: rs63751032 ×

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:

rs63751032

rs63751032

PSEN1

0.010

GeneticVariation

BEFREE

We describe here clinical and neuropathological features of a patient with dementia-parkinsonism from a family with a PSEN1 mutation (L420R).

2013