rs121912438, SOD1

N. diseases: 58
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.050 GeneticVariation BEFREE In humans, mutation of glycine 93 to alanine of Cu<sup>++</sup>/Zn<sup>++</sup> superoxide dismutase type-1 (SOD1-G93 A) has been associated to some familial cases of Amyotrophic Lateral Sclerosis (ALS). 30503815 2019
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.050 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
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.050 GeneticVariation BEFREE In conclusion, there are commonalities of findings in sporadic ALS patients and presymptomatic SOD1-G93A transgenic mice and these implicate inadequate proteasome function in the pathogenesis of both familial and sporadic ALS. 22632443 2012
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.050 GeneticVariation BEFREE The superoxide dismutase 1(G93A G1H) (SOD1(G93A G1H)) transgenic mouse is a model of familial human amyotrophic lateral sclerosis (ALS) that has progressive neurodegeneration within the spinal cord and brainstem. 17439705 2007
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.050 GeneticVariation BEFREE No increase in Hsp70 occurred in motor neurons after exposure to excitotoxic glutamate or expression of mutant SOD-1 with a glycine--> alanine substitution at residue 93 (G93A), nor was Hsp70 increased in spinal cords of G93A SOD-1 transgenic mice or sporadic or familial ALS patients. 12843283 2003