SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Disease: Amyotrophic Lateral Sclerosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315452
rs74315452
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.070 GeneticVariation BEFREE Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M233T responsible for Alzheimer's disease in a large Italian family, as well as SOD1 p.A4V and p.I113T in patients with amyotrophic lateral sclerosis. 25174650 2015
dbSNP: rs74315452
rs74315452
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.070 GeneticVariation BEFREE Here, we show that fibroblasts isolated from ALS cases with a Cu/Zn superoxide dismutase (SOD1) I113T mutation recapitulate these mitochondrial defects. 24439480 2014
dbSNP: rs74315452
rs74315452
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.070 GeneticVariation BEFREE Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation. 22670877 2012
dbSNP: rs74315452
rs74315452
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.070 GeneticVariation BEFREE We have now compared the unfolding pathway of wild-type SOD1 with those of A4V, G37R, G85R, G93A, and I113T ALS-associated mutant SOD1. 21549128 2011
dbSNP: rs74315452
rs74315452
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.070 GeneticVariation BEFREE Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation. 20184521 2010
dbSNP: rs74315452
rs74315452
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.070 GeneticVariation BEFREE ALS patients with A4V and I113T SOD1 mutations have distinctive corticomotoneuronal changes that are different from those in D90A homozygous and SALS patients. 16793335 2006
dbSNP: rs74315452
rs74315452
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.070 GeneticVariation BEFREE The Ile 113Thr mutation in the SOD1 gene has been identified in some familial as well as sporadic cases with ALS, as a mutation with a low penetrance. 10732812 1997