rs1280914556, KHDRBS1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
0.010 GeneticVariation BEFREE Here, we investigated the potential of α-synuclein fibrils to induce neurological disease in TgM83<sup>+/-</sup> mice expressing the A53T mutant of human α-synuclein after oral or intravenous challenge and compared it to intraperitoneal and intracerebral challenge. 31230104 2019
Brain Diseases
CUI: C0006111
Disease: Brain Diseases
0.010 GeneticVariation BEFREE Astrocytes have a neuroprotective role in several detrimental brain conditions; we therefore analyzed the effects of the overexpression of wild-type α-synuclein and its A30P and A53T mutants on autophagy and apoptosis. 28573674 2018