Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912442
rs121912442
0.830 GeneticVariation UNIPROT EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 21914052

2012

dbSNP: rs121912442
rs121912442
T 0.830 CausalMutation CLINVAR Superoxide dismutase 1 encoding mutations linked to ALS adopts a spectrum of misfolded states. 22094223

2011

dbSNP: rs121912442
rs121912442
T 0.830 CausalMutation CLINVAR ALS-causing SOD1 mutations promote production of copper-deficient misfolded species. 21549128

2011

dbSNP: rs121912442
rs121912442
T 0.830 CausalMutation CLINVAR Mutation-dependent polymorphism of Cu,Zn-superoxide dismutase aggregates in the familial form of amyotrophic lateral sclerosis. 20404329

2010

dbSNP: rs121912442
rs121912442
T 0.830 CausalMutation CLINVAR SOD1 (A4V)-mediated ALS presenting with lower motor neuron facial diplegia and unilateral vocal cord paralysis. 19618436

2009

dbSNP: rs121912442
rs121912442
T 0.830 CausalMutation CLINVAR Age and founder effect of SOD1 A4V mutation causing ALS. 19176896

2009

dbSNP: rs121912442
rs121912442
T 0.830 CausalMutation CLINVAR Human embryonic stem cell-derived motor neurons expressing SOD1 mutants exhibit typical signs of motor neuron degeneration linked to ALS. 19259395

2009

dbSNP: rs121912442
rs121912442
T 0.830 CausalMutation CLINVAR Structural and biophysical properties of metal-free pathogenic SOD1 mutants A4V and G93A. 19800308

2009

dbSNP: rs121912442
rs121912442
0.830 GeneticVariation UNIPROT Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation. 19741096

2009

dbSNP: rs121912442
rs121912442
T 0.830 CausalMutation CLINVAR Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease. 19483195

2009

dbSNP: rs121912442
rs121912442
0.830 GeneticVariation UNIPROT Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis. 18378676

2008

dbSNP: rs121912442
rs121912442
0.830 GeneticVariation UNIPROT Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group. 17653917

2007

dbSNP: rs121912442
rs121912442
0.830 GeneticVariation UNIPROT EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives. 16324086

2005

dbSNP: rs121912442
rs121912442
0.830 GeneticVariation UNIPROT Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants. 15056757

2004

dbSNP: rs121912442
rs121912442
0.830 GeneticVariation BEFREE To clarify the biological significance of the interaction of the redox system (Prx2/GPx1) with SOD1 in SOD1-mutated motor neurons in vivo, we produced an affinity-purified rabbit antibody against Prx2 and investigated the immunohistochemical localization of Prx2 and GPx1 in neuronal Lewy body-like hyaline inclusions (LBHIs) in the spinal cords of familial amyotrophic lateral sclerosis (FALS) patients with a two-base pair deletion at codon 126 and an Ala-->Val substitution at codon 4 in the SOD1 gene, as well as in transgenic rats expressing human SOD1 with H46R and G93A mutations. 14648077

2004

dbSNP: rs121912442
rs121912442
0.830 GeneticVariation UNIPROT ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization. 12963370

2003

dbSNP: rs121912442
rs121912442
0.830 GeneticVariation UNIPROT """True"" sporadic ALS associated with a novel SOD-1 mutation." 12402272

2002

dbSNP: rs121912442
rs121912442
T 0.830 CausalMutation CLINVAR Common denominator of Cu/Zn superoxide dismutase mutants associated with amyotrophic lateral sclerosis: decreased stability of the apo state. 12482932

2002

dbSNP: rs121912442
rs121912442
0.830 GeneticVariation BEFREE Wild type CuZnSOD and several of the mutants associated with familial amyotrophic lateral sclerosis (FALS) (Ala(4) --> Val, Gly(93) --> Ala, and Leu(38) --> Val) were expressed in Saccharomyces cerevisiae. 10625639

2000

dbSNP: rs121912442
rs121912442
0.830 GeneticVariation UNIPROT Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds. 10400992

1999

dbSNP: rs121912442
rs121912442
0.830 GeneticVariation UNIPROT A SOD1 gene mutation in a patient with slowly progressing familial ALS. 10430435

1999

dbSNP: rs121912442
rs121912442
0.830 GeneticVariation UNIPROT Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser). 9455977

1997

dbSNP: rs121912442
rs121912442
0.830 GeneticVariation BEFREE The mean duration of disease was 1.0 +/- 0.4 years, which is significantly less than the mean duration of disease for FALS patients with mutations in SOD1 other than ala4val (p < 0.001). 9008494

1997

dbSNP: rs121912442
rs121912442
0.830 GeneticVariation UNIPROT A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. 9131652

1997

dbSNP: rs121912442
rs121912442
0.830 GeneticVariation UNIPROT A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan. 8907321

1996