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: C0027765
Disease: nervous system disorder
nervous system disorder
0.350 Biomarker group BEFREE Neurite Orientation Dispersion and Density Imaging (NODDI; a form of diffusion imaging), and quantitative Magnetization Transfer Imaging (qMTi) are two such emerging modalities which have each broadened the understanding of other neurological disorders and have the potential to provide new insights into structural alterations initiated by the disease process in ALS. 30564192 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.350 GeneticVariation group BEFREE The most common genetic cause of neurological disorders ALS and FTD is a largely increased number of GGGGCC repeats in C9orf72 gene. 27856299 2017
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.350 GeneticVariation group BEFREE Mutation in superoxide dismutase-1 (SOD1) causes the inherited degenerative neurological disease familial amyotrophic lateral sclerosis (ALS), a non-cell-autonomous disease: mutant SOD1 synthesis in motor neurons and microglia drives disease onset and progression, respectively. 18219386 2008
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.350 GeneticVariation group BEFREE This article gives an outline of molecular biological approaches to analysis of neurological disorders such as giant cell glioblastoma (GGBM) and amyotrophic lateral sclerosis (ALS), and their respective animal models: p53 knockout mice for GGBM and mutant superoxide dismutase-1 transgenic mice for ALS. 12564775 2002
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.350 Biomarker group CTD_human Peroxynitrite plays a role in methamphetamine-induced dopaminergic neurotoxicity: evidence from mice lacking neuronal nitric oxide synthase gene or overexpressing copper-zinc superoxide dismutase. 11158245 2001
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.350 GeneticVariation group BEFREE We also measured the concentrations and activities of Cu/Zn SOD in FALS patients with no identifiable SOD1 mutations, sporadic ALS (SALS) patients, and patients with other neurologic disorders. 7722523 1995