Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT Single-site mutants in the Cu,Zn superoxide dismutase (SOD) gene (SOD1) occur in patients with the fatal neurodegenerative disorder familial amyotrophic lateral sclerosis (FALS). 8351519

1993

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. 8446170

1993

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT We have identified a new mutant Cu/Zn superoxide dismutase (SOD1) deduced from the nucleotide sequences of peripheral blood lymphocyte mRNA from Japanese patients with familial amyotrophic lateral sclerosis (FALS). 7980516

1994

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT These results raise the possibility that mutation of the SOD1 is responsible for FALS with broader pathological involvement. 8179602

1994

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 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

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 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

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene. 7881433

1994

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. 7870076

1994

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 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

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT The D90A mutation results in a polymorphism of Cu,Zn superoxide dismutase that is prevalent in northern Sweden and Finland. 7655469

1995

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4. 7655468

1995

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. 8528216

1995

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis. 7655471

1995

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. 7887412

1995

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. 7647793

1995

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis. 7795609

1995

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT We report a novel missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD) gene of affected members of a Japanese kindred segregating familial amyotrophic lateral sclerosis (FALS) through at least three successive generations. 7501156

1995

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT A novel SOD mutant and ALS. 7700376

1995

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis. 7496169

1995

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT """Sporadic"" motoneuron disease due to familial SOD1 mutation with low penetrance." 7997024

1995

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis. 8938700

1996

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan. 8907321

1996

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis. 8682505

1996

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. 9131652

1997

Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000 GeneticVariation UNIPROT Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis. 9101297

1997