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: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Neurodegenerative disorders characterized by neuronal and glial lesions containing aggregated pathological TDP-43 protein in the cytoplasm, nucleus, or neurites are collectively referred to as TDP-43 proteinopathies. 21123567 2010
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Neurodegenerative diseases-causing TDP-43 mutations affected tau mRNA instability differentially, in that some promoted and others did not significantly affect tau mRNA instability. 28335005 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43 represents the common pathologic substrate linking these neurodegenerative disorders. 17023659 2006
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43 in neurodegenerative disorders. 18549326 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group LHGDN TDP-43 in neurodegenerative disorders. 18549326 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43 nuclear protein is involved in several major neurodegenerative diseases that include frontotemporal lobar degeneration with ubiquitin (FTLD-U) bodies and amyotrophic lateral sclerosis (ALS). 19737636 2009
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43 is an evolutionarily conserved RNA-binding protein implicated in the pathogenesis of frontotemporal dementia (FTD), sporadic and familial amyotrophic lateral sclerosis (ALS), and possibly other neurodegenerative diseases. 19781077 2009
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43: a DNA and RNA binding protein with roles in neurodegenerative diseases. 20601083 2010
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43 is a multifunctional RNA-binding protein found to be a major protein component of intracellular inclusions found in neurodegenerative disorders such as Fronto Temporal Lobar Degeneration, Amyotrophic Lateral Sclerosis, and Alzheimer Disease. 21031599 2011
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TAR DNA-binding protein 43 (TDP-43) plays a key role in the neurodegenerative diseases including amyotrophic lateral sclerosis and frontotemporal lobar degeneration. 21355045 2011
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43 has been implicated in the pathogenesis of amyotrophic lateral sclerosis and other neurodegenerative diseases. 21706176 2011
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43 (transactive response binding protein of 43 kDa) and FUS (fused in sarcoma) comprise the neuropathological protein aggregates of distinct subtypes of the neurodegenerative diseases frontotemporal lobar degeneration and amyotrophic lateral sclerosis. 21777389 2011
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43 is one of the major components of the neuronal and glial inclusions observed in several neurodegenerative diseases such as amyotrophic lateral sclerosis and frontotemporal lobar degeneration. 22235134 2012
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TAR DNA-binding protein 43 (TDP-43) is a major component within ubiquitin-positive inclusions of a number of neurodegenerative diseases that increasingly are considered as TDP-43 proteinopathies. 22761693 2012
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43 is a multifunctional nucleic acid binding protein linked to several neurodegenerative diseases including Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia. 22792076 2012
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43, a multi-functional DNA/ RNA-binding protein encoded by the TARDBP gene, has emerged as a major patho-signature factor of the ubiquitinated intracellular inclusions (UBIs) in the diseased cells of a range of neurodegenerative diseases. 23721326 2013
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Tar-DNA binding protein of 43kDa (TDP-43) has been characterized as a major component of protein aggregates in brains with neurodegenerative diseases such as frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). 23742895 2013
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TAR DNA binding protein of 43 kDa (TDP-43) is the major pathological protein in almost all cases of the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and ∼50% of frontotemporal lobar degeneration (FTLD), designated as FTLD-TDP. 24806671 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43 (also known as TARDBP) is a pathological signature protein of neurodegenerative diseases, with TDP-43 proteinopathies including frontotemporal lobar degeneration (FTLD)-TDP and amyotrophic lateral sclerosis (ALS)-TDP. 24860144 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 AlteredExpression group BEFREE TDP-43 is a ubiquitously expressed DNA/RNA binding protein that has recently attracted attention for its involvement in neurodegenerative diseases. 24870760 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43 inclusions are an important histopathological feature in various neurodegenerative disorders, including Amyotrophic Lateral Sclerosis and Fronto-Temporal Lobar Degeneration. 25088712 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43 modifications, including hyperphosphorylation, truncation, and ubiquitination, have been reported in the pathogenesis of neurodegenerative diseases (NDs). 25213598 2015
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TAR DNA-binding protein 43 (TDP-43) is a major disease protein in amyotrophic lateral sclerosis (ALS) and related neurodegenerative diseases. 26130692 2015
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TAR DNA-binding protein 43 (TDP-43) was identified as a major component of disease pathogenesis in ALS, frontotemporal lobar degeneration (FTLD), and other neurodegenerative disease. 26702100 2016
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43 aggregates accumulate in individuals affected by amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases, representing potential diagnostic and therapeutic targets. 28122516 2017