SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation BEFREE Use of this new FALS-24B-SOD1(G93A) fly model holds promise for better understanding of the mitochondrial affectation process in FALS and for the discovery of novel therapeutic compounds able to reverse mitochondrial dysfunction in this fatal disease. 27163198 2016
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation BEFREE The palmitoylation of FALS-linked mtSOD1s (A4V and G93A) was significantly increased relative to that of wtSOD1 expressed in HEK cells and a motor neuron cell line. 23760509 2013
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation UNIPROT EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 21914052 2012
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation BEFREE Although up-regulation of caspase-12 has been reported in G93A SOD1 transgenic mice, it is controversial whether similar mechanisms operate in human FALS. 20816908 2010
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation BEFREE Here we demonstrated that, starting from the pre-onset stage of FALS, misfolded SOD1 species associates specifically with kinesin-associated protein 3 (KAP3) in the ventral white matter of SOD1(G93A)-transgenic mouse spinal cord. 19088126 2009
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation UNIPROT Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation. 19741096 2009
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation UNIPROT Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis. 18378676 2008
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation BEFREE To understand better the role of these mutations in the pathophysiology of FALS we have compared the pattern of proteins expressed in human neuroblastoma SH-SY5Y cell line with those of cell lines transfected with plasmids expressing the wild-type human SOD1 and the H46R and G93A mutants. 17979159 2007
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 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: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation UNIPROT EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives. 16324086 2005
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation BEFREE In the presence of several of these molecules, A4V and other FALS-linked SOD1 mutants such as G93A and G85R behaved similarly to wild-type SOD1, suggesting that these compounds could be leads toward effective therapeutics against FALS. 15738401 2005
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation UNIPROT Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants. 15056757 2004
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation UNIPROT ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization. 12963370 2003
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation UNIPROT """True"" sporadic ALS associated with a novel SOD-1 mutation." 12402272 2002
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation BEFREE Long-term (10-11 weeks) transplantation of hNT Neurons into the L(4)-L(5) segments of the ventral horn spinal cord of FALS(G93A) mice at 7 weeks of age (before onset of overt behavioral symptoms of disease) delayed the onset of motor dysfunction for at least 3 weeks. 11922659 2002
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation BEFREE In a recent work, we have observed that calcineurin activity is depressed in two models for familial amyotrophic lateral sclerosis (FALS) associated with mutations of the antioxidant enzyme Cu,Zn superoxide dismutase (SOD1), namely in neuroblastoma cells expressing either SOD1 mutant G93A or mutant H46R and in brain areas from G93A transgenic mice. 11701756 2001
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation BEFREE Transgenic mice carrying familial amyotrophic lateral sclerosis (FALS)-linked mutant Cu/Zn superoxide dismutase (SOD1) genes such as G93A (G93A-mice) and G85R (G85R-mice) genes develop limb paresis. 11860498 2001
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation BEFREE To investigate the mechanism of toxicity induced by the mutant SOD1 associated with FALS, we generated transgenic Caenorhabditis elegans strains that contain wild-type and mutant human A4V, G37R and G93A SOD1 recombinant plasmids. 11590119 2001
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation BEFREE In the present study, we first examined metallothioneins (MTs), known to bind copper ions and decrease oxidative toxicity, and found a twofold increase in MTs in the spinal cord of the SOD1 transgenic mice with a FALS-linked mutation (G93A), but not in the spinal cord of wild-type SOD1 transgenic mice. 11298796 2001
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation UNIPROT A SOD1 gene mutation in a patient with slowly progressing familial ALS. 10430435 1999
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation BEFREE We cloned the cDNA for the FALS G93A mutant, overexpressed the protein in E. coli cells, purified the protein, and studied its enzymic activities. 10102580 1999
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 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: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation BEFREE In the present study, we analyzed the extent of oxidative injury to lumbar and cervical spinal cord proteins in transgenic FALS mice that overexpress the SOD1 mutation [TgN(SOD1-G93A)G1H] in comparison with nontransgenic mice. 9798929 1998
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation UNIPROT A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. 9131652 1997
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.900 GeneticVariation BEFREE We have set up a model system for familial amyotrophic lateral sclerosis (FALS) by transfecting human neuroblastoma cell line SH-SY5Y with plasmids directing constitutive expression of either wild-type human Cu,Zn superoxide dismutase (Cu,ZnSOD) or a mutant of this enzyme (G93A) associated with FALS. 9315720 1997