SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Mutations in Cu,Zn superoxide dismutase (Cu,Zn SOD) account for approximately 20% of cases of familial amyotrophic lateral sclerosis (ALS), a late-onset neurodegenerative disease affecting motor neurons. 11469788 2001
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Mutations in the copper (Cu)- and zinc (Zn)-binding metalloenzyme Cu/Zn-superoxide dismutase (SOD1) cause familial forms of amyotrophic lateral sclerosis (ALS), a fatal adult-onset neurodegenerative disorder of the central nervous system (CNS). 30255176 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE More than 100 different mutations in the gene encoding copper-zinc superoxide dismutase (SOD1) cause familial forms of amyotrophic lateral sclerosis (ALS)--a fatal neurodegenerative disease in which aggregation of the SOD1 protein is considered to be the primary mode of pathogenesis. 17208444 2007
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE In ALS, ERVK protein aggregation is a novel aspect of TDP-43 misregulation contributing towards the pathology of this neurodegenerative disease. 27370226 2016
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Neurodegenerative diseases are associated with accumulation of modified proteins or peptides including amyloid-β (Aβ) in Alzheimer's disease (AD), and misfolded superoxide dismutase-1 (SOD-1) in amyotrophic lateral sclerosis (ALS). 22156608 2012
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Model organisms reveal insight into human neurodegenerative disease: ataxin-2 intermediate-length polyglutamine expansions are a risk factor for ALS. 21660502 2011
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE SOD1 was also the first gene in which mutations were found to be causative for the neurodegenerative disease amyotrophic lateral sclerosis (ALS), more than 20 years ago. 25492944 2015
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Thus, ALS has paralleled other neurodegenerative disorders, such as Alzheimer's and prion diseases, in which the inflammatory process is believed to participate directly in neuronal death. 11796754 2002
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease involving the formation of cytoplasmic aggregates by proteins including TDP-43 and SOD1, in affected cells in the central nervous system (CNS). 28711596 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE These data reinforce the concept that SIRT3 may be a relevant therapeutic target is ALS as well as in other neurodegenerative diseases. 28449871 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Immune inflammatory modulation as a potential therapeutic strategy of stem cell therapy for ALS and neurodegenerative diseases. 30463642 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Cerebrospinal fluid (CSF) from patients including sALS as well as several other neurodegenerative diseases and non-neurodegenerative diseases was examined with an immunoprecipitation assay and a sandwich ELISA using antibodies specifically recognizing misfolded SOD1. 31744522 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Amyotrophic lateral sclerosis/parkinsonism-dementia complex (ALS/PDC) is a fatal neurodegenerative disease found in the Chamorro people of Guam and other Pacific Island populations. 19567404 2009
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE The neurotoxin β-<i>N</i>-methylamino-l-alanine (BMAA), a non-protein amino acid produced by terrestrial and aquatic cyanobacteria and by micro-algae, has been suggested to play a role as an environmental factor in the neurodegenerative disease Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia complex (ALS-PDC). 29443939 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Postmortem human brain tissue was obtained from different brain regions of patients with ALS, normal controls (NC), and patients with AD and Lewy body dementia (LB)-neurodegenerative diseases in which motor neurons are unaffected. 11071482 2000
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease) is a neurodegenerative disease characterized by motor neuron degeneration, paralysis and death. 15663483 2005
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Degenerative myelopathy is a severe and progressive neurodegenerative disease and, in the majority of breeds, is associated with the c.118G>A substitution in exon 2 of the canine superoxide dismutase 1 (SOD1) gene. 27917507 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Oxidative stress exhibits a central role in the course of amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disease commonly found to include a copper/zinc superoxide dismutase (SOD1) gene mutation. 29559385 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Point mutations in Cu, Zn-superoxide dismutase (SOD1) cause a familial form of the neurodegenerative disease amyotrophic lateral sclerosis (ALS). 16636274 2006
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE The transcription factor Nrf2 and its repressor protein Keap1 play key roles in the regulation of antioxidant stress responses and both Keap1-Nrf2 signalling and oxidative stress have been implicated in the pathogenesis of the ALS-FTLD spectrum of neurodegenerative disorders. 27554286 2016
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE ALS is a devastating neurodegenerative disorder for which no effective treatment exists. 16289867 2006
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Mutations in superoxide dismutase (SOD1) cause amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease characterized by the loss of upper and lower motor neurons in the brain and spinal cord. 27551074 2016
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Mutations in Cu, Zn superoxide dismutase (SOD1) cause the neurodegenerative disease familial amyotrophic lateral sclerosis from an as-yet-unidentified toxic property(ies). 9600970 1998
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE ALS is a progressive neurodegenerative disease with no curative treatment. 28805578 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE ALS is a lethal neurodegenerative disease wherein the diagnosis is often delayed. 28872909 2017