Source: UNIPROT

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 Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. 21220647

2011
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		1.000 GeneticVariation UNIPROT Dorfin ubiquitylates mutant SOD1 and prevents mutant SOD1-mediated neurotoxicity. 12145308

2002
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 Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. 14506936

2003
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 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 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 A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan. 10732812

1997
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 A novel L67P SOD1 mutation in an Italian ALS patient. 21247266

2011
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 gene mutation in familial ALS with low penetrance in females. 11535232

2001
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		1.000 GeneticVariation UNIPROT Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis. 18378676

2008
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		1.000 GeneticVariation UNIPROT Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants. 15056757

2004
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 """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 """True"" sporadic ALS associated with a novel SOD-1 mutation." 12402272

2002
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		1.000 GeneticVariation UNIPROT Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser). 9455977

1997
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 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 Subunit asymmetry in the three-dimensional structure of a human CuZnSOD mutant found in familial amyotrophic lateral sclerosis. 9541385

1998
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