Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.040 GeneticVariation disease BEFREE Semantic dementia, including the semantic variant of primary progressive aphasia (svPPA), is strongly associated with TAR-DNA binding protein 43 (TDP-43) type C pathology. 28912300 2018
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.040 GeneticVariation disease BEFREE CSF-Progranulin levels were significantly lower in FTD type patients with semantic dementia and behavioral variant FTD mainly attributed to the Tar-DNA-Binding-Protein (TDP) 43 compared to predominantly Tau-mediated PNFA (<i>p</i> < 0.05). 30013506 2018
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.040 Biomarker disease BEFREE We find that hnRNP E2 immunostaining detects the TDP-43 positive dystrophic neurites (DN) within frontal and temporal cortex, and the neuronal cytoplasmic inclusions (NCI) seen in DG granule cells, characteristic of patients with Semantic Dementia (SD) and type C TDP-43 pathology, but did not detect TDP-43 or tau inclusions in any of the other pathological or genetic variants of FTLD. 28666471 2017
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.040 Biomarker disease BEFREE There are three major associated clinical syndromes, behavioral variant frontotemporal dementia (bvFTD), semantic dementia (SD) and progressive non-fluent aphasia (PNFA); three principal histologies, involving tau, TDP-43 and FUS proteins; and mutations in three major genes, MAPT, GRN and C9orf72, along with several other less common gene mutations. 28100023 2017