SOD1, superoxide dismutase 1, 6647

N. diseases: 147; N. variants: 48
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 21914052 2012
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation. 19741096 2009
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis. 18378676 2008
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group. 17653917 2007
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives. 16324086 2005
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants. 15056757 2004
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization. 12963370 2003
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT """True"" sporadic ALS associated with a novel SOD-1 mutation." 12402272 2002
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT A SOD1 gene mutation in a patient with slowly progressing familial ALS. 10430435 1999
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds. 10400992 1999
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser). 9455977 1997
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. 9131652 1997
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan. 8907321 1996
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. 7887412 1995
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. 8528216 1995
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis. 7496169 1995
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene. 7881433 1994
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis. 7951252 1994
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS. 7836951 1994
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. 7870076 1994
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others. 8069312 1994
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. 8351519 1993
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.900 GeneticVariation UNIPROT Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. 8446170 1993
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		C 0.900 CausalMutation CLINVAR
dbSNP: rs121912443
rs121912443
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		G 0.890 CausalMutation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039 2014