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: rs121908395
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
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: rs121908395
rs121908395
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: rs121908395
rs121908395
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: rs121908395
rs121908395
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: rs121908395
rs121908395
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: rs121908395
rs121908395
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: rs121908395
rs121908395
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: rs121908395
rs121908395
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: rs121908395
rs121908395
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: rs121908395
rs121908395
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
dbSNP: rs121908395
rs121908395
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: rs121908395
rs121908395
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: rs121908395
rs121908395
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2677565
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		C 0.800 CausalMutation CLINVAR