DisGeNET - a database of gene-disease associations

SOD1, superoxide dismutase 1, 6647

N. diseases: 147; N. variants: 48

Source: CURATED ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121912431

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

GeneticVariation

UNIPROT

EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.

21914052

2012

dbSNP:

rs121912443

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

GeneticVariation

UNIPROT

EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.

21914052

2012

dbSNP:

rs121912443

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

CausalMutation

CLINVAR

"Hereditary motor neuron disease in a large Norwegian family with a ""H46R"" substitution in the superoxide dismutase 1 gene."

22475618

2012

dbSNP:

rs121912431

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

GeneticVariation

UNIPROT

Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.

19741096

2009

dbSNP:

rs121912443

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

CausalMutation

CLINVAR

A common property of amyotrophic lateral sclerosis-associated variants: destabilization of the copper/zinc superoxide dismutase electrostatic loop.

19635794

2009

dbSNP:

rs121912443

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

CausalMutation

CLINVAR

Unfolding and folding kinetics of amyotrophic lateral sclerosis-associated mutant Cu,Zn superoxide dismutases.

18951903

2009

dbSNP:

rs121912443

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

GeneticVariation

UNIPROT

Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.

19741096

2009

dbSNP:

rs121912443

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

CausalMutation

CLINVAR

Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.

19483195

2009

dbSNP:

rs121912431

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

GeneticVariation

UNIPROT

Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.

18378676

2008

dbSNP:

rs121912443

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

GeneticVariation

UNIPROT

Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.

18378676

2008

dbSNP:

rs121912431

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

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:

rs121912443

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

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:

rs121912431

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

GeneticVariation

UNIPROT

EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.

16324086

2005

dbSNP:

rs121912443

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

GeneticVariation

UNIPROT

EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.

16324086

2005

dbSNP:

rs121912431

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

GeneticVariation

UNIPROT

Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.

15056757

2004

dbSNP:

rs121912443

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

GeneticVariation

UNIPROT

Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.

15056757

2004

dbSNP:

rs121912431

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

GeneticVariation

UNIPROT

ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.

12963370

2003

dbSNP:

rs121912443

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

GeneticVariation

UNIPROT

ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.

12963370

2003

dbSNP:

rs121912443

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

CausalMutation

CLINVAR

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.

14506936

2003

dbSNP:

rs121912431

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

GeneticVariation

UNIPROT

"""True"" sporadic ALS associated with a novel SOD-1 mutation."

12402272

2002

dbSNP:

rs121912443

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

GeneticVariation

UNIPROT

"""True"" sporadic ALS associated with a novel SOD-1 mutation."

12402272

2002

dbSNP:

rs121912443

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

CausalMutation

CLINVAR

Copper(2+) binding to the surface residue cysteine 111 of His46Arg human copper-zinc superoxide dismutase, a familial amyotrophic lateral sclerosis mutant.

10889018

2000

dbSNP:

rs121912431

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

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:

rs121912431

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

GeneticVariation

UNIPROT

A SOD1 gene mutation in a patient with slowly progressing familial ALS.

10430435

1999

dbSNP:

rs121912443

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.890

GeneticVariation

UNIPROT

A SOD1 gene mutation in a patient with slowly progressing familial ALS.

10430435

1999