DisGeNET - a database of gene-disease associations

Source: ALL

Disease: AMYOTROPHIC LATERAL SCLEROSIS 1 ×

Variant: rs1482760341 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

GeneticVariation

UNIPROT

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

12402272

2002

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

GeneticVariation

UNIPROT

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

9131652

1997

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

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:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

GeneticVariation

UNIPROT

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

10430435

1999

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

GeneticVariation

UNIPROT

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

12963370

2003

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

CausalMutation

CLINVAR

ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survival.

21700728

2012

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

CausalMutation

CLINVAR

ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene.

11676987

2001

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

GeneticVariation

UNIPROT

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

8351519

1993

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

GeneticVariation

UNIPROT

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

7881433

1994

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

GeneticVariation

UNIPROT

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

15056757

2004

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

GeneticVariation

UNIPROT

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

21914052

2012

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

GeneticVariation

UNIPROT

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

16324086

2005

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

CausalMutation

CLINVAR

Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis.

9029070

1997

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

CausalMutation

CLINVAR

Exposure of hydrophobic surfaces initiates aggregation of diverse ALS-causing superoxide dismutase-1 mutants.

20399791

2010

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

CausalMutation

CLINVAR

Extensive genetics of ALS: a population-based study in Italy.

23100398

2012

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

CausalMutation

CLINVAR

Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect.

15258228

2004

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

GeneticVariation

UNIPROT

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

9455977

1997

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

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:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

CausalMutation

CLINVAR

Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients.

23062701

2013

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

CausalMutation

CLINVAR

Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center.

27978769

2017

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

CausalMutation

CLINVAR

Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis.

28222900

2017

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

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:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

GeneticVariation

BEFREE

Here we used wild-type (WT) SOD and five FALS-related mutants (G37R, H46R, G85R, D90A, and L144F) to show that the metals contribute significantly to the kinetic stability of the protein, with demetalated (apo) SOD showing acid-induced unfolding rates about 60-fold greater than the metalated (holo) protein.

15610047

2004

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

GeneticVariation

UNIPROT

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

7870076

1994

dbSNP:

rs1482760341

SOD1 ; SCAF4

CUI:	C1862939
Disease:	AMYOTROPHIC LATERAL SCLEROSIS 1

AMYOTROPHIC LATERAL SCLEROSIS 1

0.820

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