DisGeNET - a database of gene-disease associations

AMYOTROPHIC LATERAL SCLEROSIS 1, C1862939

Variant: rs121912434 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121912434

SOD1

0.800

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:

rs121912434

SOD1

0.800

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:

rs121912434

SOD1

0.800

CausalMutation

CLINVAR

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.

8446170

1993

dbSNP:

rs121912434

SOD1

0.800

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:

rs121912434

SOD1

0.800

CausalMutation

CLINVAR

Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis.

9029070

1997

dbSNP:

rs121912434

SOD1

0.800

CausalMutation

CLINVAR

Rapid disease progression correlates with instability of mutant SOD1 in familial ALS.

16291929

2005

dbSNP:

rs121912434

SOD1

0.800

GeneticVariation

UNIPROT

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.

8446170

1993

dbSNP:

rs121912434

SOD1

0.800

GeneticVariation

UNIPROT

Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.

8351519

1993

dbSNP:

rs121912434

SOD1

0.800

GeneticVariation

UNIPROT

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

18378676

2008

dbSNP:

rs121912434

SOD1

0.800

GeneticVariation

UNIPROT

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

10430435

1999

dbSNP:

rs121912434

SOD1

0.800

GeneticVariation

UNIPROT

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

12402272

2002

dbSNP:

rs121912434

SOD1

0.800

CausalMutation

CLINVAR

A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis-linked SOD1 mutants.

23280792

2012

dbSNP:

rs121912434

SOD1

0.800

GeneticVariation

UNIPROT

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

9455977

1997

dbSNP:

rs121912434

SOD1

0.800

CausalMutation

CLINVAR

Characterization of wild-type and amyotrophic lateral sclerosis-related mutant Cu,Zn-superoxide dismutases overproduced in baculovirus-infected insect cells.

7891072

1995

dbSNP:

rs121912434

SOD1

0.800

GeneticVariation

UNIPROT

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

16324086

2005

dbSNP:

rs121912434

SOD1

0.800

CausalMutation

CLINVAR

The G41D mutation in the superoxide dismutase 1 gene is associated with slow motor neuron progression and mild cognitive impairment in a Chinese family with amyotrophic lateral sclerosis.

26069299

2016

dbSNP:

rs121912434

SOD1

0.800

CausalMutation

CLINVAR

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

19483195

2009

dbSNP:

rs121912434

SOD1

0.800

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:

rs121912434

SOD1

0.800

GeneticVariation

UNIPROT

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

21914052

2012

dbSNP:

rs121912434

SOD1

0.800

GeneticVariation

UNIPROT

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

7881433

1994

dbSNP:

rs121912434

SOD1

0.800

GeneticVariation

UNIPROT

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

12963370

2003

dbSNP:

rs121912434

SOD1

0.800

CausalMutation

CLINVAR

Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case-control study and literature review.

28291249

2017

dbSNP:

rs121912434

SOD1

0.800

GeneticVariation

UNIPROT

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

7887412

1995

dbSNP:

rs121912434

SOD1

0.800

GeneticVariation

UNIPROT

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

9131652

1997

dbSNP:

rs121912434

SOD1

0.800

GeneticVariation

UNIPROT

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

8907321

1996