Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4884357
rs4884357
TARDBP
A 0.800 GeneticVariation CLINVAR Burden of rare variants in ALS genes influences survival in familial and sporadic ALS. 28709720

2017
dbSNP: rs4884357
rs4884357
TARDBP
A 0.800 GeneticVariation CLINVAR Disease-associated mutations of TDP-43 promote turnover of the protein through the proteasomal pathway. 24477737

2014
dbSNP: rs4884357
rs4884357
TARDBP
A 0.800 GeneticVariation CLINVAR Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations. 24507191

2014
dbSNP: rs4884357
rs4884357
TARDBP
A 0.800 GeneticVariation CLINVAR Accelerated disease onset with stabilized familial amyotrophic lateral sclerosis (ALS)-linked mutant TDP-43 proteins. 23235148

2013
dbSNP: rs4884357
rs4884357
TARDBP
A 0.800 GeneticVariation CLINVAR Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations. 22539580

2012
dbSNP: rs4884357
rs4884357
TARDBP
0.800 GeneticVariation UNIPROT High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis. 21418058

2012
dbSNP: rs4884357
rs4884357
TARDBP
0.800 GeneticVariation UNIPROT Novel TARDBP mutations in Nordic ALS patients. 22456481

2012
dbSNP: rs4884357
rs4884357
TARDBP
0.800 GeneticVariation UNIPROT Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. 21220647

2011
dbSNP: rs4884357
rs4884357
TARDBP
A 0.800 GeneticVariation CLINVAR ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS. 20624952

2010
dbSNP: rs4884357
rs4884357
TARDBP
0.800 GeneticVariation UNIPROT Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. 20740007

2010
dbSNP: rs4884357
rs4884357
TARDBP
0.800 GeneticVariation UNIPROT TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. 19350673

2009
dbSNP: rs4884357
rs4884357
TARDBP
0.800 GeneticVariation UNIPROT Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease. 19655382

2009
dbSNP: rs4884357
rs4884357
TARDBP
0.800 GeneticVariation UNIPROT High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. 19224587

2009
dbSNP: rs4884357
rs4884357
TARDBP
0.800 GeneticVariation UNIPROT Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis. 19695877

2009
dbSNP: rs4884357
rs4884357
TARDBP
0.800 GeneticVariation UNIPROT TDP-43 A315T mutation in familial motor neuron disease. 18288693

2008
dbSNP: rs4884357
rs4884357
TARDBP
0.800 GeneticVariation UNIPROT TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. 18396105

2008
dbSNP: rs4884357
rs4884357
TARDBP
A 0.800 GeneticVariation CLINVAR TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. 18396105

2008
dbSNP: rs4884357
rs4884357
TARDBP
0.800 GeneticVariation UNIPROT TDP-43 mutation in familial amyotrophic lateral sclerosis. 18438952

2008
dbSNP: rs4884357
rs4884357
TARDBP
0.800 GeneticVariation UNIPROT TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. 18372902

2008
dbSNP: rs4884357
rs4884357
TARDBP
0.800 GeneticVariation UNIPROT TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. 18309045

2008
dbSNP: rs4884357
rs4884357
TARDBP
A 0.800 CausalMutation CLINVAR