DisGeNET - a database of gene-disease associations

MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

GeneticVariation

UNIPROT

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

11071507

2000

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

GeneticVariation

UNIPROT

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

12473774

2002

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

GeneticVariation

BEFREE

As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family.

27311648

2016

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

GeneticVariation

UNIPROT

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

11889249

2002

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

GeneticVariation

UNIPROT

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

15883319

2005

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

GeneticVariation

UNIPROT

Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.

9736786

1998

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

CausalMutation

CLINVAR

GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil.

27082848

2017

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

GeneticVariation

BEFREE

We investigated the underlying disease mechanism associated with the N279K tau mutation using PPND/FTDP-17 patient-derived induced pluripotent stem cells (iPSCs) and autopsy brains.

26373282

2015

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

CausalMutation

CLINVAR

Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations.

26220942

2015

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

GeneticVariation

UNIPROT

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

9641683

1998

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

GeneticVariation

BEFREE

The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model.

17715352

2007

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

GeneticVariation

UNIPROT

Functional effects of tau gene mutations deltaN296 and N296H.

11906000

2002

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

GeneticVariation

UNIPROT

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

10374757

1999

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

CausalMutation

CLINVAR

Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing.

19498037

2009

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

CausalMutation

CLINVAR

A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene.

14568818

2003

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

GeneticVariation

BEFREE

Here we show that Lrrk2 is closely associated with the tau-positive inclusions in eight members of a family with frontotemporal dementia of the pallido-ponto-nigral degeneration type linked to the chromosome 17 N279K tau mutation (N279K/FTDP-17/PPND).

17639429

2007

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

GeneticVariation

UNIPROT

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

10489057

1999

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

GeneticVariation

BEFREE

The objective of this clinical-pathologic study was to identify biomarkers for a pallidopontonigral degeneration (PPND) kindred of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) harboring the N279K tau mutation.

17196872

2007

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

GeneticVariation

UNIPROT

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

16240366

2005

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

GeneticVariation

BEFREE

The N279K mutation is a causative genetic defect for pallidopontonigral degeneration in an American kindred that presents with frontotemporal dementia (FTD) and parkinsonism.

10802785

2000

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

GeneticVariation

BEFREE

The N279K mutation is one of the three mutations more prevalent in FTDP-17 cases.

30050413

2018

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

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:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

GeneticVariation

UNIPROT

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

12509859

2003

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

CausalMutation

CLINVAR

The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model.

17715352

2007

dbSNP:

rs63750756

Entrez Id:	4137
Gene Symbol:	MAPT

MAPT

CUI:	C0338451
Disease:

Frontotemporal dementia

0.900

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