SOD1, superoxide dismutase 1, 6647

N. diseases: 537; N. variants: 47
Disease: Amyotrophic Lateral Sclerosis ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912435
rs121912435
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation BEFREE The acquisition of the pro-oxidant activity is accelerated for H43R, which is an ALS-related mutant, in molecular crowding environment. 31348988 2020
dbSNP: rs121912435
rs121912435
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation BEFREE Taken together, it is suggested that the binding of Cu(2+) induces the local refolding of denatured apo-H43R to create toxic catalytic centers that convert the enzyme from antioxidant to pro-oxidant, leading to the pathogenesis of ALS. 23837654 2013