rs121912438, SOD1

N. diseases: 58
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Motor symptoms
CUI: C0426980
Disease: Motor symptoms
0.040 GeneticVariation BEFREE Early changes of neuromuscular transmission in the SOD1(G93A) mice model of ALS start long before motor symptoms onset. 24040091 2013
Motor symptoms
CUI: C0426980
Disease: Motor symptoms
0.040 GeneticVariation BEFREE In addition, we have recently reported elevated heart rate and blood pressure in transgenic (TG) mice carrying the SOD1 mutant form of the human SOD1 transgene (SOD1-G93A) even prior to the appearance of motor symptoms. 23607704 2013
Motor symptoms
CUI: C0426980
Disease: Motor symptoms
0.040 GeneticVariation BEFREE After identification of the clinical onset in each female G93A mutant SOD1 transgenic mouse, we intraperitoneally administered multiple doses of edaravone to the mice and observed their motor symptoms. 18718468 2008
Motor symptoms
CUI: C0426980
Disease: Motor symptoms
0.040 GeneticVariation BEFREE Neural mitochondrial Ca2+ capacity impairment precedes the onset of motor symptoms in G93A Cu/Zn-superoxide dismutase mutant mice. 16478527 2006