TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		G 0.800 CausalMutation CLINVAR A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. 28430856 2017
dbSNP: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		G 0.800 CausalMutation CLINVAR Burden of rare variants in ALS genes influences survival in familial and sporadic ALS. 28709720 2017
dbSNP: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		G 0.800 CausalMutation CLINVAR Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations. 24507191 2014
dbSNP: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		G 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
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		G 0.800 CausalMutation CLINVAR The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons. 23827948 2013
dbSNP: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		G 0.800 CausalMutation CLINVAR Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations. 24143176 2013
dbSNP: rs80356730
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
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: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		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: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		G 0.800 CausalMutation CLINVAR TDP-43 M337V mutation in familial amyotrophic lateral sclerosis in Japan. 20154440 2010
dbSNP: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		G 0.800 CausalMutation CLINVAR Mutant TAR DNA-binding protein-43 induces oxidative injury in motor neuron-like cell. 20600671 2010
dbSNP: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation UNIPROT Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. 20740007 2010
dbSNP: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation UNIPROT Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis. 19695877 2009
dbSNP: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation UNIPROT TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. 19350673 2009
dbSNP: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		G 0.800 CausalMutation CLINVAR TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity. 19465477 2009
dbSNP: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation UNIPROT High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. 19224587 2009
dbSNP: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation UNIPROT Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease. 19655382 2009
dbSNP: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation UNIPROT TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. 18372902 2008
dbSNP: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation UNIPROT TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. 18396105 2008
dbSNP: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		G 0.800 CausalMutation CLINVAR TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. 18309045 2008
dbSNP: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation UNIPROT TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. 18309045 2008
dbSNP: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation UNIPROT TDP-43 A315T mutation in familial motor neuron disease. 18288693 2008
dbSNP: rs80356730
rs80356730
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 GeneticVariation UNIPROT TDP-43 mutation in familial amyotrophic lateral sclerosis. 18438952 2008