Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Amyotrophic Lateral Sclerosis, Sporadic
0.600 GeneticVariation disease BEFREE Mutations in Cu/Zn superoxide dismutase (Sod1) have been reported in both familial and sporadic amyotrophic lateral sclerosis (ALS). 31796595 2019
Amyotrophic Lateral Sclerosis, Sporadic
0.600 Biomarker disease BEFREE We already demonstrated that in peripheral blood mononuclear cells (PBMCs) of sporadic amyotrophic lateral sclerosis (sALS) patients, superoxide dismutase 1 (SOD1) was present in an aggregated form in the cytoplasmic compartment. 31121901 2019
Amyotrophic Lateral Sclerosis, Sporadic
0.600 Biomarker disease BEFREE Wild-type Cu/Zn-superoxide dismutase is misfolded in cerebrospinal fluid of sporadic amyotrophic lateral sclerosis. 31744522 2019
Amyotrophic Lateral Sclerosis, Sporadic
0.600 AlteredExpression disease BEFREE In SOD1<sup>G93A</sup> mice, the serum levels of creatine kinase were elevated at 9 weeks of age (peri-onset) when Chrng started to be up-regulated, and were then down-regulated at 15 weeks of age, consistent with the clinical data from patients with sporadic amyotrophic lateral sclerosis. 31456060 2019
Amyotrophic Lateral Sclerosis, Sporadic
0.600 GeneticVariation disease BEFREE Lewy body-like hyaline inclusions (LBHIs) are also found in a small proportion of sALS cases as well as in individuals with familial ALS with mutations in the Cu/Zu superoxide dismutase (SOD1) gene. 29938835 2018
Amyotrophic Lateral Sclerosis, Sporadic
0.600 Biomarker disease BEFREE Endoplasmic reticulum stress leads to accumulation of wild-type SOD1 aggregates associated with sporadic amyotrophic lateral sclerosis. 30038021 2018
Amyotrophic Lateral Sclerosis, Sporadic
0.600 GeneticVariation disease BEFREE We report an apparently sporadic amyotrophic lateral sclerosis patient carrying a heterozygous novel frameshift SOD1 mutation (p.Ser108LeufsTer15), predicted to cause a premature protein truncation. 30236613 2018
Amyotrophic Lateral Sclerosis, Sporadic
0.600 GeneticVariation disease BEFREE Sporadic amyotrophic lateral sclerosis (sALS) is the most common form of ALS, however, the molecular mechanisms underlying cellular damage and motor neuron degeneration remain elusive. 29881994 2018
Amyotrophic Lateral Sclerosis, Sporadic
0.600 GeneticVariation disease BEFREE We previously found C9orf72-associated (c9ALS) and sporadic amyotrophic lateral sclerosis (sALS) brain transcriptomes comprise thousands of defects, among which, some are likely key contributors to ALS pathogenesis. 28808785 2017
Amyotrophic Lateral Sclerosis, Sporadic
0.600 Biomarker disease CTD_human Conformational Disorder of the Most Immature Cu, Zn-Superoxide Dismutase Leading to Amyotrophic Lateral Sclerosis. 26694608 2016
Amyotrophic Lateral Sclerosis, Sporadic
0.600 Biomarker disease BEFREE Axonal excitability variables were measured in patients with c9orf72 ALS and results compared with matched patients with SALS and healthy control participants. 25384182 2015
Amyotrophic Lateral Sclerosis, Sporadic
0.600 Biomarker disease MGD A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity. 25468678 2015
Amyotrophic Lateral Sclerosis, Sporadic
0.600 Biomarker disease BEFREE There is emerging evidence that the misfolding of superoxide dismutase 1 (SOD1) may represent a common pathogenic event in both familial and sporadic amyotrophic lateral sclerosis (ALS). 24394188 2014
Amyotrophic Lateral Sclerosis, Sporadic
0.600 Biomarker disease BEFREE Cu/Zn-superoxide dismutase is misfolded in familial and sporadic amyotrophic lateral sclerosis, but it is not clear how this triggers endoplasmic reticulum (ER) stress or other pathogenic processes. 24134191 2014
Amyotrophic Lateral Sclerosis, Sporadic
0.600 GeneticVariation disease BEFREE Early anatomical changes in mouse models of fALS are seen in the neuromuscular junctions (NMJs) and lower motor neurons, and selective reduction of toxic mutant SOD1 in the spinal cord and muscle of these models has beneficial effects. 25411487 2014
Amyotrophic Lateral Sclerosis, Sporadic
0.600 GeneticVariation disease BEFREE The results revealed that 8 novel loci of 1p34.3, 3p21.1, 3p22.2, 10p15.2, 22q12.1, 3q13.11, 11q25, 12q24.33, and 5 previously reported loci of CNTN4 (kgp11325216), ATXN1 (kgp8327591), C9orf72 (kgp6016770), ITPR2 (kgp3041552), and SOD1 (kgp10760302) were associated with sALS from CHP. 24529757 2014
Amyotrophic Lateral Sclerosis, Sporadic
0.600 Biomarker disease CTD_human Overexpression of metallothionein-I, a copper-regulating protein, attenuates intracellular copper dyshomeostasis and extends lifespan in a mouse model of amyotrophic lateral sclerosis caused by mutant superoxide dismutase-1. 24163136 2014
Amyotrophic Lateral Sclerosis, Sporadic
0.600 Biomarker disease BEFREE Mutations in the sequestosome 1 gene (SQSTM1) have recently been identified in patients with amyotrophic lateral sclerosis, accounting for 1.11%-4.92% of familial ALS and 2.42%-4.37% of sporadic amyotrophic lateral sclerosis (SALS). 24138988 2014
Amyotrophic Lateral Sclerosis, Sporadic
0.600 Biomarker disease CTD_human Ligand binding and aggregation of pathogenic SOD1. 23612299 2013
Amyotrophic Lateral Sclerosis, Sporadic
0.600 Biomarker disease CTD_human Heat shock factor 1 over-expression protects against exposure of hydrophobic residues on mutant SOD1 and early mortality in a mouse model of amyotrophic lateral sclerosis. 24256636 2013
Amyotrophic Lateral Sclerosis, Sporadic
0.600 Biomarker disease BEFREE The aim of this study was to identify gene expression profiles in peripheral blood mononuclear cells (PBMCs) from sporadic amyotrophic lateral sclerosis (sALS) patients to gain insights into the pathogenesis of ALS. 20884065 2011
Amyotrophic Lateral Sclerosis, Sporadic
0.600 GeneticVariation disease BEFREE Cu/Zn superoxide dismutase (SOD1) gene mutations have been reported in familial and sporadic amyotrophic lateral sclerosis (ALS). 21545237 2011
Amyotrophic Lateral Sclerosis, Sporadic
0.600 Biomarker disease CTD_human Copper depletion increases the mitochondrial-associated SOD1 in neuronal cells. 21140194 2011
Amyotrophic Lateral Sclerosis, Sporadic
0.600 GeneticVariation disease BEFREE SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant. 21621297 2011
Amyotrophic Lateral Sclerosis, Sporadic
0.600 GeneticVariation disease BEFREE However, familial amyotrophic lateral sclerosis (FALS) without superoxide dismutase-1 gene (SOD1) mutation is less heterogeneous than SALS. 21483737 2011