DisGeNET - a database of gene-disease associations

Frontotemporal dementia, C0338451

Variant: rs63750082 ×

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:

rs63750082

PSEN1

0.700

CausalMutation

CLINVAR

Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

27930341

2017

dbSNP:

rs63750082

PSEN1

0.700

CausalMutation

CLINVAR

The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.

27073747

2016

dbSNP:

rs63750082

PSEN1

0.700

CausalMutation

CLINVAR

Disease-related mutations among Caribbean Hispanics with familial dementia.

25333068

2014

dbSNP:

rs63750082

PSEN1

0.700

CausalMutation

CLINVAR

Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala mutation in Puerto Rican Hispanics with dementia.

23114514

2013

dbSNP:

rs63750082

PSEN1

0.700

CausalMutation

CLINVAR

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

22312439

2012

dbSNP:

rs63750082

PSEN1

0.700

CausalMutation

CLINVAR

Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation.

18797263

2008

dbSNP:

rs63750082

PSEN1

0.700

CausalMutation

CLINVAR

Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.

11524469

2001

dbSNP:

rs63750082

PSEN1

0.700

CausalMutation

CLINVAR

A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.

11710891

2001