TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: TDP-43 Proteinopathies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356726
rs80356726
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C2718017
Disease:
TDP-43 Proteinopathies 		0.010 GeneticVariation BEFREE Selected compounds were initially screened for anti-convulsant activity in a C. elegans pentylenetetrazol-induced seizure assay, as a rapid primary readout of bioactivity; and then assessed for neuroprotective properties in a C. elegans TDP-43 proteinopathy model based on pan-neuronal expression of human A315T mutant TDP-43. 29940336 2018