TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Alexander Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		0.010 GeneticVariation disease BEFREE Phosphorylated TDP-43 also accumulates in the detergent-insoluble fraction from affected brain regions of Gfap(R236H/+) knock-in mice, which harbor a GFAP mutation homologous to one that causes AxD in humans, and TDP-43 colocalizes with astrocytic RF pathology in Gfap(R236H/+) mice and transgenic mice overexpressing human wild-type GFAP. 24806671 2014