TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150169
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED 		0.300 Biomarker disease MGD TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD. 29556029 2018
CUI: C3150169
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED 		0.300 CausalMutation disease CLINVAR Burden of rare variants in ALS genes influences survival in familial and sporadic ALS. 28709720 2017
CUI: C3150169
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED 		0.300 CausalMutation disease CLINVAR A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. 28430856 2017
CUI: C3150169
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED 		0.300 CausalMutation disease CLINVAR Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations. 24507191 2014
CUI: C3150169
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED 		0.300 CausalMutation disease CLINVAR Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy. 23401527 2013
CUI: C3150169
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED 		0.300 CausalMutation disease CLINVAR The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons. 23827948 2013
CUI: C3150169
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED 		0.300 CausalMutation disease CLINVAR Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations. 24143176 2013
CUI: C3150169
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED 		0.300 CausalMutation disease CLINVAR TDP-43 M337V mutation in familial amyotrophic lateral sclerosis in Japan. 20154440 2010
CUI: C3150169
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED 		0.300 CausalMutation disease CLINVAR Mutant TAR DNA-binding protein-43 induces oxidative injury in motor neuron-like cell. 20600671 2010
CUI: C3150169
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED 		0.300 CausalMutation disease CLINVAR TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity. 19465477 2009
CUI: C3150169
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED 		0.300 CausalMutation disease CLINVAR TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. 18309045 2008