rs121912438, SOD1

N. diseases: 58
Disease: Amyloidosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.020 GeneticVariation BEFREE It was also revealed that by reducing the disulfide bond and causing a decrease in the structural stability, the amyloid fibril formation of a familial mutant SOD1 G93A was accelerated even under physiological conditions. 26319711 2016
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.020 GeneticVariation BEFREE We have further characterized this response in SOD1(G93A) mice and also revealed elevated levels of β-amyloid (Aβ) peptides in the SOD1(G93A) spinal cord, which were predominantly localized within motor neurons and their surrounding glial cells. 22678056 2012