rs121912431, SOD1

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
0.740 GeneticVariation BEFREE Using a motor neuron disease mouse model expressing human SOD1-G37R, we herein report the immunogenicity and therapeutic efficacy of two ALS vaccines, tgG-DSE2lim and tgG-DSE5b, based on the notion that native SOD1 would undergo early unfolding in disease to present "disease specific epitopes" (DSE). 31324499 2019
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
0.740 CausalMutation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114 2017
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
0.740 GeneticVariation BEFREE The establishment of this SOD1-G37R cDNA transgenic model indicates that expression of mutant SOD1 proteins in the neuromuscular unit is sufficient to cause motor neuron disease. 16046140 2005
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
0.740 GeneticVariation BEFREE To test these possibilities, levels of nitrotyrosine and markers for hydroxyl radical formation were measured in two lines of transgenic mice that develop progressive motor neuron disease from expressing human familial ALS-linked SOD1 mutation G37R. 9207139 1997
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
0.740 GeneticVariation BEFREE Four lines of mice accumulating one of these mutant proteins (G37R) develop severe, progressive motor neuron disease. 7605627 1995