TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Amyotrophic Lateral Sclerosis, Familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		0.100 GeneticVariation disease BEFREE TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. 18372902 2008
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		0.100 GeneticVariation disease BEFREE Recently, missense mutations in the gene encoding TDP-43 have been identified in patients with sporadic and familial amyotrophic lateral sclerosis. 18989115 2008
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		0.100 GeneticVariation disease BEFREE TDP-43 mutation in familial amyotrophic lateral sclerosis. 18438952 2008
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		0.100 GeneticVariation disease BEFREE Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations. 18779421 2008
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		0.100 GeneticVariation disease BEFREE Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. 18802454 2008
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		0.100 Biomarker disease BEFREE TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation. 17333220 2007