rs121912438, SOD1

N. diseases: 58
Disease: Neurologic Symptoms ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neurologic Symptoms
CUI: C0235031
Disease: Neurologic Symptoms
0.030 GeneticVariation BEFREE Intramuscular delivery of HGF-expressing recombinant AAV improves muscle integrity and alleviates neurological symptoms in the nerve crush and SOD1-G93A transgenic mouse models. 31376938 2019
Neurologic Symptoms
CUI: C0235031
Disease: Neurologic Symptoms
0.030 GeneticVariation BEFREE Studies in the SOD1(G93A) mouse show deposition of C1q and C3/C3b at the motor end-plate before neurological symptoms are apparent, suggesting that complement activation precedes neurodegeneration in this model. 27056040 2016
Neurologic Symptoms
CUI: C0235031
Disease: Neurologic Symptoms
0.030 GeneticVariation BEFREE G93A SOD1 transgenic mice show an increase in proteasome activity and induction of immuno-proteasome subunits within spinal cord as they develop neurological symptoms. 17482163 2007