Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		C 0.870 CausalMutation CLINVAR

dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation UNIPROT Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis. 7496169

1995
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 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: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation UNIPROT Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. 7870076

1994
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation UNIPROT Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene. 7881433

1994
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation UNIPROT Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. 7887412

1995
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 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
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation BEFREE Assay by transient expression in primate cells of six FALS mutant enzymes revealed a continuum of enzymatic activity bounded by the enzyme carrying the mutation Gly-85-->Arg, which was inactive, and mutant enzyme G37R carrying the Gly-37-->Arg change, which retained full specific activity but displayed a 2-fold reduction in polypeptide stability. 8058797

1994
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 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
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation UNIPROT Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. 8351519

1993
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation UNIPROT Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. 8446170

1993
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation UNIPROT Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. 8528216

1995
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 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: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation UNIPROT A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. 9131652

1997
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation UNIPROT Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser). 9455977

1997
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation UNIPROT Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds. 10400992

1999
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation UNIPROT A SOD1 gene mutation in a patient with slowly progressing familial ALS. 10430435

1999
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation BEFREE Transfection of these cell lines with DNA encoding two mutant SOD1 enzymes (G37R and G85R) associated with familial amyotrophic lateral sclerosis (FALS), produced similar, but more severe changes, i.e. even lower growth rates, higher lipid peroxidation, 3-nitrotyrosine and protein carbonyl levels, decreased GSH levels, raised GSSG levels and higher glutathione peroxidase activities. 11181815

2001
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation BEFREE Transgenic mice carrying familial amyotrophic lateral sclerosis (FALS)-linked mutant Cu/Zn superoxide dismutase (SOD1) genes such as G93A (G93A-mice) and G85R (G85R-mice) genes develop limb paresis. 11860498

2001
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation UNIPROT """True"" sporadic ALS associated with a novel SOD-1 mutation." 12402272

2002
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation UNIPROT ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization. 12963370

2003
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation UNIPROT Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants. 15056757

2004
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation BEFREE In the presence of several of these molecules, A4V and other FALS-linked SOD1 mutants such as G93A and G85R behaved similarly to wild-type SOD1, suggesting that these compounds could be leads toward effective therapeutics against FALS. 15738401

2005
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 GeneticVariation UNIPROT EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives. 16324086

2005
dbSNP: rs121912436
rs121912436
SOD1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.870 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