DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: AMYOTROPHIC LATERAL SCLEROSIS 1 ×

Gene: SOD1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

"""Sporadic"" motoneuron disease due to familial SOD1 mutation with low penetrance."

7997024

1995

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

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

12402272

2002

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan.

10732812

1997

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

A novel L67P SOD1 mutation in an Italian ALS patient.

21247266

2011

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease.

8990014

1997

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis.

7795609

1995

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

A novel SOD mutant and ALS.

7700376

1995

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

A novel SOD1 gene mutation in familial ALS with low penetrance in females.

11535232

2001

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.

9131652

1997

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.

8907321

1996

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

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

10430435

1999

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

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

12963370

2003

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase.

7647793

1995

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4.

7655468

1995

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.

7881433

1994

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

Complete loss of post-translational modifications triggers fibrillar aggregation of SOD1 in the familial form of amyotrophic lateral sclerosis.

18552350

2008

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

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

15056757

2004

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

Dorfin ubiquitylates mutant SOD1 and prevents mutant SOD1-mediated neurotoxicity.

12145308

2002

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).

9455977

1997

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

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

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.

7870076

1994

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

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

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.

7887412

1995

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

GeneticVariation

UNIPROT

Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.

7496169

1995

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

1.000

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