Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912441
rs121912441
C 0.800 CausalMutation CLINVAR Essential role of ICAM-1 in aldosterone-induced atherosclerosis. 28089144

2017

dbSNP: rs121912441
rs121912441
C 0.800 CausalMutation CLINVAR The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia. 28105640

2017

dbSNP: rs121912441
rs121912441
C 0.800 CausalMutation CLINVAR Destabilization of the dimer interface is a common consequence of diverse ALS-associated mutations in metal free SOD1. 26362407

2015

dbSNP: rs121912441
rs121912441
C 0.800 CausalMutation CLINVAR The influence of topography on dynamic wetting. 23726301

2014

dbSNP: rs121912441
rs121912441
C 0.800 CausalMutation CLINVAR Familial amyotrophic lateral sclerosis in Alberta, Canada. 23286750

2013

dbSNP: rs121912441
rs121912441
C 0.800 CausalMutation CLINVAR SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience. 22292843

2012

dbSNP: rs121912441
rs121912441
0.800 GeneticVariation UNIPROT EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 21914052

2012

dbSNP: rs121912441
rs121912441
C 0.800 CausalMutation CLINVAR ALS-causing SOD1 mutations promote production of copper-deficient misfolded species. 21549128

2011

dbSNP: rs121912441
rs121912441
0.800 GeneticVariation UNIPROT Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation. 19741096

2009

dbSNP: rs121912441
rs121912441
0.800 GeneticVariation UNIPROT Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis. 18378676

2008

dbSNP: rs121912441
rs121912441
0.800 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: rs121912441
rs121912441
0.800 GeneticVariation UNIPROT EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives. 16324086

2005

dbSNP: rs121912441
rs121912441
0.800 GeneticVariation UNIPROT Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants. 15056757

2004

dbSNP: rs121912441
rs121912441
0.800 GeneticVariation UNIPROT ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization. 12963370

2003

dbSNP: rs121912441
rs121912441
0.800 GeneticVariation UNIPROT """True"" sporadic ALS associated with a novel SOD-1 mutation." 12402272

2002

dbSNP: rs121912441
rs121912441
0.800 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: rs121912441
rs121912441
0.800 GeneticVariation UNIPROT A SOD1 gene mutation in a patient with slowly progressing familial ALS. 10430435

1999

dbSNP: rs121912441
rs121912441
0.800 GeneticVariation UNIPROT Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser). 9455977

1997

dbSNP: rs121912441
rs121912441
0.800 GeneticVariation UNIPROT A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. 9131652

1997

dbSNP: rs121912441
rs121912441
0.800 GeneticVariation UNIPROT A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan. 8907321

1996

dbSNP: rs121912441
rs121912441
0.800 GeneticVariation UNIPROT Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. 7887412

1995

dbSNP: rs121912441
rs121912441
0.800 GeneticVariation UNIPROT Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis. 7496169

1995

dbSNP: rs121912441
rs121912441
C 0.800 CausalMutation CLINVAR """Sporadic"" motoneuron disease due to familial SOD1 mutation with low penetrance." 7997024

1995

dbSNP: rs121912441
rs121912441
0.800 GeneticVariation UNIPROT Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. 8528216

1995

dbSNP: rs121912441
rs121912441
0.800 GeneticVariation UNIPROT Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. 7870076

1994