TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 Biomarker disease MGD TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD. 29556029 2018
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 CausalMutation disease CLINVAR A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. 28430856 2017
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation disease CLINVAR Burden of rare variants in ALS genes influences survival in familial and sporadic ALS. 28709720 2017
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 CausalMutation disease CLINVAR Burden of rare variants in ALS genes influences survival in familial and sporadic ALS. 28709720 2017
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation disease CLINVAR Functional complementation in Drosophila to predict the pathogenicity of TARDBP variants: evidence for a loss-of-function mechanism. 25442115 2015
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation disease CLINVAR Disease-associated mutations of TDP-43 promote turnover of the protein through the proteasomal pathway. 24477737 2014
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation disease CLINVAR Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations. 24507191 2014
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 CausalMutation disease CLINVAR Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations. 24507191 2014
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 CausalMutation disease CLINVAR Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy. 23401527 2013
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 CausalMutation disease CLINVAR The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons. 23827948 2013
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation disease CLINVAR Accelerated disease onset with stabilized familial amyotrophic lateral sclerosis (ALS)-linked mutant TDP-43 proteins. 23235148 2013
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing. 23881933 2013
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 CausalMutation disease CLINVAR Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations. 24143176 2013
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation disease UNIPROT Novel TARDBP mutations in Nordic ALS patients. 22456481 2012
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation disease UNIPROT High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis. 21418058 2012
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation disease CLINVAR Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations. 22539580 2012
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation disease UNIPROT Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. 21220647 2011
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 CausalMutation disease CLINVAR Mutant TAR DNA-binding protein-43 induces oxidative injury in motor neuron-like cell. 20600671 2010
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation disease CLINVAR ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS. 20624952 2010
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 CausalMutation disease CLINVAR TDP-43 M337V mutation in familial amyotrophic lateral sclerosis in Japan. 20154440 2010
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation disease CLINVAR Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis. 19760257 2010
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation disease UNIPROT Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. 20740007 2010
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation disease UNIPROT TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. 19350673 2009
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation disease UNIPROT Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease. 19655382 2009
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 CausalMutation disease CLINVAR TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity. 19465477 2009