Gene: SOD1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1315541036
rs1315541036
SOD1
0.010 GeneticVariation BEFREE Identification of L84F mutation with a novel nucleotide change c.255G > T in the superoxide dismutase gene in a North Indian family with amyotrophic lateral sclerosis. 26630559

2016
dbSNP: rs121912440
rs121912440
SOD1
0.010 GeneticVariation BEFREE Distinctive clinicopathological features of 2 large families with amyotrophic lateral sclerosis having L106V mutation in SOD1 gene. 22647583

2012
dbSNP: rs1343616996
rs1343616996
SOD1
0.010 GeneticVariation BEFREE An ALS case with a novel D90N-SOD1 heterozygous missense mutation. 22632444

2012
dbSNP: rs199474723
rs199474723
SOD1
0.010 GeneticVariation BEFREE A novel c.352C>G (L117V) SOD1 mutation was found in two Syrian ALS families living in Europe. 22595972

2012
dbSNP: rs121912434
rs121912434
SOD1
0.010 GeneticVariation BEFREE A Gly41Ser mutation in the superoxide dismutase 1 gene (SOD1) has been reported to cause a very rapid course of amyotrophic lateral sclerosis (ALS) in a limited number of Italian patients, but a Gly41Asp mutation results in a more benign course. 21755517

2011
dbSNP: rs762628133
rs762628133
SOD1 ; LOC102724449
0.010 GeneticVariation BEFREE We report a new mutation (D11Y) in the Cu/Zn superoxide dismutase gene in a patient with ALS and an unusually slow disease progression. 20740631

2010
dbSNP: rs567432143
rs567432143
SOD1
0.010 GeneticVariation BEFREE Identification of a novel D109Y mutation in Cu/Zn superoxide dismutase (sod1) gene associated with amyotrophic lateral sclerosis. 17257622

2007
dbSNP: rs121912459
rs121912459
SOD1
0.010 GeneticVariation BEFREE Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family. 11220750

2001
dbSNP: rs121912455
rs121912455
SOD1
0.010 GeneticVariation BEFREE We identified the heterozygote mutation Gly72Ser (exon 3) in a family with two individuals affected by ALS. 9455977

1997
dbSNP: rs121912448
rs121912448
SOD1 ; LOC102724449
0.010 GeneticVariation BEFREE We have identified a novel two-base mutation in exon 1 of the Cu/Zn superoxide dismutase (SOD1) gene (TGC to TTT), which resulted in Cys6 to Phe substitution in a Japanese family with amyotrophic lateral sclerosis (ALS). 8907321

1996
dbSNP: rs121912439
rs121912439
SOD1
0.010 GeneticVariation BEFREE Decreased thermal stability of red blood cell glu100-->gly superoxide dismutase from a family with amyotrophic lateral sclerosis. 7635196

1995
dbSNP: rs121912435
rs121912435
SOD1
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: rs1424014997
rs1424014997
SOD1 ; SCAF4
0.020 GeneticVariation BEFREE In contrast, perturbations caused by the ALS mutation are completely masked in the crystal structure of I149T. 25296320

2014
dbSNP: rs121912435
rs121912435
SOD1
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
dbSNP: rs121912433
rs121912433
SOD1
0.020 GeneticVariation BEFREE The more rapid course of ALS with the Gly41Ser SOD1 mutation is confirmed in a distinct ethnic group. 21755517

2011
dbSNP: rs121912433
rs121912433
SOD1
0.020 GeneticVariation BEFREE G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype. 19488901

2010
dbSNP: rs1424014997
rs1424014997
SOD1 ; SCAF4
0.020 GeneticVariation BEFREE Clinical phenotypes of a large Chinese multigenerational kindred with autosomal dominant familial ALS due to Ile149Thr SOD1 gene mutation. 16963403

2006
dbSNP: rs768029813
rs768029813
SOD1 ; LOC102724449
0.020 GeneticVariation BEFREE Altogether, it is speculated that the N19S mutation of SOD1 in cooperation with associated cell stresses contributes to the onset of ALS as a risk factor. 16035108

2005
dbSNP: rs768029813
rs768029813
SOD1 ; LOC102724449
0.020 GeneticVariation BEFREE Controls (n = 268) and familial ALS index cases (n = 180) were screened and one control subject with N19S was identified. 12783432

2003
dbSNP: rs121912437
rs121912437
SOD1
0.030 GeneticVariation BEFREE Editor's Highlight: Embryonic Exposure to the Environmental Neurotoxin BMAA Negatively Impacts Early Neuronal Development and Progression of Neurodegeneration in the Sod1-G93R Zebrafish Model of Amyotrophic Lateral Sclerosis. 28123103

2017
dbSNP: rs774994509
rs774994509
SOD1
0.030 GeneticVariation BEFREE Phenotypic heterogeneity in a SOD1 G93D Italian ALS family: an example of human model to study a complex disease. 21120636

2011
dbSNP: rs774994509
rs774994509
SOD1
0.030 GeneticVariation BEFREE We describe an Italian patient affected by sporadic ALS with the SOD1 G93D mutation that disclosed an unusual rapid progression with death occurring after 30 months from the symptom onset. 21621297

2011
dbSNP: rs774994509
rs774994509
SOD1
0.030 GeneticVariation BEFREE This report shows that G93D may cause a form of ALS with slow progression, long-lasting paucisymptomatic phase and both lower and upper motor neuron involvement. 19922144

2010
dbSNP: rs121912437
rs121912437
SOD1
0.030 GeneticVariation BEFREE To determine the clinical and pathologic phenotype associated with the G93C mutation in SOD1 and to compare survival in familial ALS related to this mutation with survival in other ALS subgroups. 16476815

2006
dbSNP: rs121912437
rs121912437
SOD1
0.030 GeneticVariation BEFREE Therefore, we undertook to look for folding-related defects by comparing the unfolding behavior of five ALS-associated mutants with distinct structural characteristics: A4V at the interface between the N and C termini, C6F in the hydrophobic core, D90A at the protein surface, and G93A and G93C, which decrease backbone flexibility. 12482932

2002