DisGeNET - a database of gene-disease associations

AMYOTROPHIC LATERAL SCLEROSIS 1, C1862939

Variant: rs121912438 ×

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:

rs121912438

SOD1

0.900

GeneticVariation

BEFREE

Based on the temporal correlation of these impairments with the onset of motor weakness and the appearance of NF inclusions and vacuoles in vulnerable motor neurons, the latter lesions may be the proximal cause of motor neuron dysfunction and degeneration in the G93A mice and in FALS patients with SOD1 mutations.

9382875

1997

dbSNP:

rs121912438

SOD1

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

SOD1

0.900

GeneticVariation

BEFREE

We found significant increases in concentrations of 3-nitrotyrosine, a marker of peroxynitrite-mediated nitration, in upper and lower spinal cord and in cerebral cortex of transgenic mice with the FALS-associated G93A mutation.

9307254

1997

dbSNP:

rs121912438

SOD1

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

SOD1

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

SOD1

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

SOD1

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

SOD1

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

SOD1

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

SOD1

0.900

GeneticVariation

UNIPROT

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

7870076

1994

dbSNP:

rs121912438

SOD1

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

SOD1

0.900

GeneticVariation

UNIPROT

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

7881433

1994

dbSNP:

rs121912438

SOD1

0.900

GeneticVariation

UNIPROT

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

8351519

1993

dbSNP:

rs121912438

SOD1

0.900

GeneticVariation

UNIPROT

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

8446170

1993

dbSNP:

rs121912438

SOD1

0.900

CausalMutation

CLINVAR