Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 Biomarker LHGDN Presymptomatic biochemical changes in hindlimb muscle of G93A human Cu/Zn superoxide dismutase 1 transgenic mouse model of amyotrophic lateral sclerosis. 18485920

2008
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 AlteredExpression LHGDN This is the first report of a potential gender difference in levels of SOD1 in CSF of ALS patients. 18574763

2008
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN The ALS-related mutant G85R SOD1 and G93A SOD1 formed visible aggregates and caused cell death possibly by apoptosis when over-expressed in neuro2a cells. 18233996

2008
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN Toxicity from different SOD1 mutants dysregulates the complement system and the neuronal regenerative response in ALS motor neurons. 17463094

2007
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN Degradation of amyotrophic lateral sclerosis-linked mutant Cu,Zn-superoxide dismutase proteins by macroautophagy and the proteasome. 16920710

2006
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN Further characterization of these as-isolated SOD1 proteins may provide new insights regarding mutant SOD1 enzyme toxicity in ALS. 11854284

2002
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN Mutant SOD1 linked to familial amyotrophic lateral sclerosis, but not wild-type SOD1, induces ER stress in COS7 cells and transgenic mice. 12659845

2003
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN [Parkinson disease and amyotrophic lateral sclerosis. Tauopathies, TDP-43 and SOD mutations]. 18808763

2009
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN Phenotypic effects of familial amyotrophic lateral sclerosis mutant Sod alleles in transgenic Drosophila. 12502789

2003
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN Mutation of SOD1 in ALS: a gain of a loss of function. 17504823

2007
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 Biomarker LHGDN To elucidate the underlying molecular events, we used rapid charge-cooled device imaging to evaluate Ca(2+) signaling and metabolic signatures in the brainstem slices of SOD1(G93A) mice, the mouse model of human ALS, at 8 to 9 and 14 to 15 weeks of age, corresponding to the presymptomatic and symptomatic stages of motor dysfunction, respectively, and compared the results with corresponding age-matched wild-type littermates. 19060114

2009
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN Since the discovery of mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1), testing for SOD1 gene mutations has become a routine part of the investigation into ALS patients with a family history. 17453632

2007
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN Familial amyotrophic lateral sclerosis mutants of copper/zinc superoxide dismutase are susceptible to disulfide reduction. 12458194

2003
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN Our in vivo evidence correlates mutation of the SOD1 gene to increased nitric oxide, nitration and oxidation of proteins in ALS. 17368952

2007
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN Mitochondrial localization of mutant superoxide dismutase 1 triggers caspase-dependent cell death in a cellular model of familial amyotrophic lateral sclerosis. 12393885

2002
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS). 16952453

2006
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN A limited role for disulfide cross-linking in the aggregation of mutant SOD1 linked to familial amyotrophic lateral sclerosis. 18316367

2008
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN These data suggest that UPS impairment occurs in motor neurons of mutant SOD1-linked ALS mice and may play a role in the disease progression. 18826962

2009
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN This paper reports RNP complex formation on SOD1 mRNA as a neuronal tissue-specific and ALS-associated mutation sensitive feature. 16730180

2006
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy. 18608106

2009
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN Amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease) is one of the most common neurodegenerative disorders in humans. 12441104

2002
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN The superoxide dismutase1 (SOD1) G93A mutation does not promote neuronal injury after focal brain ischemia and optic nerve transection in mice. 15350647

2004
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN Identification of a novel mutation in Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis. 12039658

2002
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN Familial ALS-superoxide dismutases associate with mitochondria and shift their redox potentials. 16945901

2006
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GeneticVariation LHGDN Slowly progressing amyotrophic lateral sclerosis caused by H46R SOD1 mutation. 17483589

2007