DisGeNET - a database of gene-disease associations

AMYOTROPHIC LATERAL SCLEROSIS 1, C1862939

Variant: rs121912443 ×

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:

rs121912443

SOD1

0.890

GeneticVariation

UNIPROT

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

8446170

1993

dbSNP:

rs121912443

SOD1

0.890

GeneticVariation

UNIPROT

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

8351519

1993

dbSNP:

rs121912443

SOD1

0.890

CausalMutation

CLINVAR

Mild ALS in Japan associated with novel SOD mutation.

8298637

1993

dbSNP:

rs121912443

SOD1

0.890

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:

rs121912443

SOD1

0.890

GeneticVariation

BEFREE

In order to get a better insight into the mechanism(s) underlying the FALS phenotype, we have investigated the activity and the copper binding properties of the single mutant H46R, which is associated with a Japanese form of FALS.

7805862

1994

dbSNP:

rs121912443

SOD1

0.890

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:

rs121912443

SOD1

0.890

CausalMutation

CLINVAR

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:

rs121912443

SOD1

0.890

GeneticVariation

UNIPROT

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

7881433

1994

dbSNP:

rs121912443

SOD1

0.890

GeneticVariation

UNIPROT

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

7870076

1994

dbSNP:

rs121912443

SOD1

0.890

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:

rs121912443

SOD1

0.890

GeneticVariation

UNIPROT

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

7887412

1995

dbSNP:

rs121912443

SOD1

0.890

GeneticVariation

UNIPROT

Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.

8528216

1995

dbSNP:

rs121912443

SOD1

0.890

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:

rs121912443

SOD1

0.890

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:

rs121912443

SOD1

0.890

GeneticVariation

BEFREE

We analyzed mutant superoxide dismutase-1 (SOD-1) in erythrocytes from patients with familial amyotrophic lateral sclerosis (FALS) by using ion exchange chromatography and HPLC/electrospray ionization mass spectrometry and were able to divide mutant SOD-1 proteins into a stable form including G37R and H46R, and an unstable form including I149T and a two base pair deletion mutant.

9425258

1997

dbSNP:

rs121912443

SOD1

0.890

GeneticVariation

UNIPROT

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

9131652

1997

dbSNP:

rs121912443

SOD1

0.890

GeneticVariation

UNIPROT

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

9455977

1997

dbSNP:

rs121912443

SOD1

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:

rs121912443

SOD1

0.890

GeneticVariation

UNIPROT

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

10430435

1999

dbSNP:

rs121912443

SOD1

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:

rs121912443

SOD1

0.890

GeneticVariation

BEFREE

In a recent work, we have observed that calcineurin activity is depressed in two models for familial amyotrophic lateral sclerosis (FALS) associated with mutations of the antioxidant enzyme Cu,Zn superoxide dismutase (SOD1), namely in neuroblastoma cells expressing either SOD1 mutant G93A or mutant H46R and in brain areas from G93A transgenic mice.

11701756

2001

dbSNP:

rs121912443

SOD1

0.890

GeneticVariation

UNIPROT

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

12402272

2002

dbSNP:

rs121912443

SOD1

0.890

GeneticVariation

BEFREE

Most of the "metal binding region" FALS mutants (H46R, G85R, D124V, D125H, and S134N) exhibited transitions that probably resulted from unfolding of metal-free species at approximately 4-12 degrees C below the observed melting of the least stable WT species.

11854285

2002

dbSNP:

rs121912443

SOD1

0.890

GeneticVariation

BEFREE

This is the first autopsy report of FALS with a His46Arg mutation in the SOD1 enzyme.

11997070

2002

dbSNP:

rs121912443

SOD1

0.890

GeneticVariation

BEFREE

We report a new missense mutation (Ala140Gly) in exon 5 of the Cu/Zn superoxide dismutase (SOD-1) gene in a 73-year-old man with familial amyotrophic lateral sclerosis (FALS).

12039658

2002