SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Disease: Amyotrophic Lateral Sclerosis, Sporadic ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80265967
rs80265967
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862941
Disease:
Amyotrophic Lateral Sclerosis, Sporadic 		0.020 GeneticVariation BEFREE One novel mutation (p.I99V) and a homozygous p.D90A mutation were identified in SALS patients. 19965850 2010
dbSNP: rs80265967
rs80265967
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862941
Disease:
Amyotrophic Lateral Sclerosis, Sporadic 		0.020 GeneticVariation BEFREE D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis. 8909456 1996
dbSNP: rs74315452
rs74315452
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862941
Disease:
Amyotrophic Lateral Sclerosis, Sporadic 		0.010 GeneticVariation BEFREE An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation. 23773010 2014
dbSNP: rs774994509
rs774994509
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862941
Disease:
Amyotrophic Lateral Sclerosis, Sporadic 		0.010 GeneticVariation BEFREE SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant. 21621297 2011
dbSNP: rs121912438
rs121912438
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862941
Disease:
Amyotrophic Lateral Sclerosis, Sporadic 		0.010 GeneticVariation BEFREE The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis. 20176600 2010
dbSNP: rs760740095
rs760740095
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862941
Disease:
Amyotrophic Lateral Sclerosis, Sporadic 		0.010 GeneticVariation BEFREE One novel mutation (p.I99V) and a homozygous p.D90A mutation were identified in SALS patients. 19965850 2010
dbSNP: rs567432143
rs567432143
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862941
Disease:
Amyotrophic Lateral Sclerosis, Sporadic 		0.010 GeneticVariation BEFREE We report a novel missense mutation (Asp109Tyr) in exon 4 of the Cu/Zn superoxide dismutase (sod1) gene in a woman with apparently sporadic amyotrophic lateral sclerosis (SALS). 17257622 2007
dbSNP: rs768029813
rs768029813
Entrez Id: 6647;102724449
Gene Symbol: SOD1;LOC102724449
SOD1;LOC102724449
CUI: C1862941
Disease:
Amyotrophic Lateral Sclerosis, Sporadic 		0.010 GeneticVariation BEFREE N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: no evidence for disease causation. 12783432 2003