DisGeNET - a database of gene-disease associations

Frontotemporal dementia, C0338451

Variant: rs63750570 ×

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:

rs63750570

MAPT

0.850

GeneticVariation

BEFREE

Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M).

26990251

2017

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

BEFREE

We describe clinical, structural MRI, and [18F]AV1451 PET findings in a V337M MAPT mutation carrier affected by FTD and pathologic findings in his affected mother and in an unrelated V337M MAPT carrier also affected with FTD.

28130473

2017

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

BEFREE

Here, we address this question using a mouse model expressing the entire human tau gene with an FTD-associated mutation (V337M).

25471585

2014

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

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

20298421

2010

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

BEFREE

The findings recapitulate core abnormalities in impulsive responding observed in both frontal variant FTD and FTDP-17 linked to the tau(V337M) mutation in humans.

17517691

2007

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.

15883319

2005

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

Phenotypic heterogeneity within a new family with the MAPT p301s mutation.

16240366

2005

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe.

14517953

2003

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.

12509859

2003

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

Functional effects of tau gene mutations deltaN296 and N296H.

11906000

2002

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation.

11921059

2002

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).

12473774

2002

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

Early-onset, rapidly progressive familial tauopathy with R406W mutation.

11889249

2002

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

Effects of FTDP-17 mutations on the in vitro phosphorylation of tau by glycogen synthase kinase 3beta identified by mass spectrometry demonstrate certain mutations exert long-range conformational changes.

11278002

2001

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells.

11585254

2001

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation.

11071507

2000

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation.

11117541

2000

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene.

10802785

2000

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.

10489057

1999

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation.

10553987

1999

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

Here, we present evidence that frontotemporal dementia and Parkinsonism linked to chromosome 17 missense mutations, P301L, V337M and R406W, cause an accelerated aggregation of tau into filaments.

10214944

1999

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.

10374757

1999

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

A distinct familial presenile dementia with a novel missense mutation in the tau gene.

10208578

1999

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

UNIPROT

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.

9641683

1998

dbSNP:

rs63750570

MAPT

0.850

GeneticVariation

BEFREE

The conclusion is that the type and distribution of tau deposits in HFTD1 and HFTD2, the physical structure of filaments, and tau isoform composition in HFTD1 differ from Alzheimer's disease and an FTDP-17 family with a V337M mutation in the tau gene.

9811325

1998