DisGeNET - a database of gene-disease associations

TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36

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:

rs4884357

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

CLINVAR

Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.

28709720

2017

dbSNP:

rs80356730

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

CausalMutation

CLINVAR

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

28430856

2017

dbSNP:

rs80356730

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

CausalMutation

CLINVAR

Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.

28709720

2017

dbSNP:

rs80356719

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

CLINVAR

Functional complementation in Drosophila to predict the pathogenicity of TARDBP variants: evidence for a loss-of-function mechanism.

25442115

2015

dbSNP:

rs4884357

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

CLINVAR

Disease-associated mutations of TDP-43 promote turnover of the protein through the proteasomal pathway.

24477737

2014

dbSNP:

rs4884357

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

CLINVAR

Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations.

24507191

2014

dbSNP:

rs80356730

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

CausalMutation

CLINVAR

Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations.

24507191

2014

dbSNP:

rs4884357

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

CLINVAR

Accelerated disease onset with stabilized familial amyotrophic lateral sclerosis (ALS)-linked mutant TDP-43 proteins.

23235148

2013

dbSNP:

rs80356730

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

CausalMutation

CLINVAR

Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy.

23401527

2013

dbSNP:

rs80356730

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

CausalMutation

CLINVAR

The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons.

23827948

2013

dbSNP:

rs80356730

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

CausalMutation

CLINVAR

Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations.

24143176

2013

dbSNP:

rs121908395

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

UNIPROT

Novel TARDBP mutations in Nordic ALS patients.

22456481

2012

dbSNP:

rs121908395

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

UNIPROT

High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.

21418058

2012

dbSNP:

rs367543041

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

UNIPROT

High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.

21418058

2012

dbSNP:

rs367543041

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

UNIPROT

Novel TARDBP mutations in Nordic ALS patients.

22456481

2012

dbSNP:

rs4884357

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

CLINVAR

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations.

22539580

2012

dbSNP:

rs4884357

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

UNIPROT

High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.

21418058

2012

dbSNP:

rs4884357

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

UNIPROT

Novel TARDBP mutations in Nordic ALS patients.

22456481

2012

dbSNP:

rs80356726

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

UNIPROT

Novel TARDBP mutations in Nordic ALS patients.

22456481

2012

dbSNP:

rs80356726

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

UNIPROT

High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.

21418058

2012

dbSNP:

rs80356727

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

UNIPROT

Novel TARDBP mutations in Nordic ALS patients.

22456481

2012

dbSNP:

rs80356727

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

UNIPROT

High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.

21418058

2012

dbSNP:

rs80356730

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

UNIPROT

High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.

21418058

2012

dbSNP:

rs80356730

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

UNIPROT

Novel TARDBP mutations in Nordic ALS patients.

22456481

2012

dbSNP:

rs80356731

Entrez Id:	23435
Gene Symbol:	TARDBP

TARDBP

CUI:	C2677565
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)

0.800

GeneticVariation

UNIPROT

Novel TARDBP mutations in Nordic ALS patients.

22456481

2012