Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
0.820 GeneticVariation UNIPROT Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis. 18378676 2008
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
0.820 GeneticVariation UNIPROT Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation. 19741096 2009
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
0.820 CausalMutation CLINVAR Decreased stability and increased formation of soluble aggregates by immature superoxide dismutase do not account for disease severity in ALS. 21257910 2011
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
0.820 GeneticVariation UNIPROT EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 21914052 2012
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
0.820 CausalMutation CLINVAR A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis-linked SOD1 mutants. 23280792 2012
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
0.820 CausalMutation CLINVAR Destabilization of the dimer interface is a common consequence of diverse ALS-associated mutations in metal free SOD1. 26362407 2015