TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Perry Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868594
Disease: Perry Syndrome
Perry Syndrome 		0.030 Biomarker disease BEFREE TDP-43 aggregates were not detected in the substantia nigra and cerebral cortex of the transgenic mice, although pathological aggregates of TDP-43 have been considered a major neuropathological feature of Perry syndrome. 29273399 2018
CUI: C1868594
Disease: Perry Syndrome
Perry Syndrome 		0.030 GeneticVariation disease BEFREE The above phenotypes associated with Perry syndrome are improved by the removal of a copy of Drosophila TDP-43 TBPH, thus suggesting that the stagnation of axonal transport by dynactin mutations promotes TDP-43 aggregation and interferes with the dynamics of DCVs and synaptic activities. 28625517 2017
CUI: C1868594
Disease: Perry Syndrome
Perry Syndrome 		0.030 Biomarker disease BEFREE Perry syndrome has TAR DNA-binding protein of 43 kDa (TDP-43) inclusions as a defining feature. 28789478 2017