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

CausalMutation

CLINVAR

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

18951903

2009

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

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

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:

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

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

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

16324086

2005

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

GeneticVariation

UNIPROT

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

18378676

2008

dbSNP:

rs121912443

SOD1

0.890

GeneticVariation

BEFREE

The His46Arg (H46R) mutant of human copper-zinc superoxide dismutase (SOD1) is associated with an unusual, slowly progressing form of familial amyotrophic lateral sclerosis (FALS).

15840828

2005

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

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

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

UNIPROT

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

7881433

1994

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

CausalMutation

CLINVAR

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

22475618

2012

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

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

SOD1

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

SOD1

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

SOD1

0.890

CausalMutation

CLINVAR

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

25025039

2014

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

CausalMutation

CLINVAR

Mild ALS in Japan associated with novel SOD mutation.

8298637

1993