Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.830 GeneticVariation UNIPROT """True"" sporadic ALS associated with a novel SOD-1 mutation." 12402272

2002
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.830 GeneticVariation UNIPROT Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene. 7881433

1994
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.830 GeneticVariation UNIPROT ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization. 12963370

2003
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		T 0.830 CausalMutation CLINVAR A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis. 7951249

1994
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.830 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: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.830 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: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.830 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: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		T 0.830 CausalMutation CLINVAR SOD1 (A4V)-mediated ALS presenting with lower motor neuron facial diplegia and unilateral vocal cord paralysis. 19618436

2009
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.830 GeneticVariation UNIPROT EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives. 16324086

2005
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.830 GeneticVariation UNIPROT EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 21914052

2012
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.830 GeneticVariation UNIPROT Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants. 15056757

2004
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		T 0.830 CausalMutation CLINVAR Superoxide dismutase 1 encoding mutations linked to ALS adopts a spectrum of misfolded states. 22094223

2011
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.830 GeneticVariation UNIPROT Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser). 9455977

1997
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		T 0.830 CausalMutation CLINVAR Age and founder effect of SOD1 A4V mutation causing ALS. 19176896

2009
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		T 0.830 CausalMutation CLINVAR Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. 8351519

1993
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.830 GeneticVariation BEFREE The mean duration of disease was 1.0 +/- 0.4 years, which is significantly less than the mean duration of disease for FALS patients with mutations in SOD1 other than ala4val (p < 0.001). 9008494

1997
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.830 GeneticVariation UNIPROT Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. 8351519

1993
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.830 GeneticVariation UNIPROT Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. 7870076

1994
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.830 GeneticVariation UNIPROT A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. 9131652

1997
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		T 0.830 CausalMutation CLINVAR Common denominator of Cu/Zn superoxide dismutase mutants associated with amyotrophic lateral sclerosis: decreased stability of the apo state. 12482932

2002
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		T 0.830 CausalMutation CLINVAR Human embryonic stem cell-derived motor neurons expressing SOD1 mutants exhibit typical signs of motor neuron degeneration linked to ALS. 19259395

2009
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		T 0.830 CausalMutation CLINVAR Mutation-dependent polymorphism of Cu,Zn-superoxide dismutase aggregates in the familial form of amyotrophic lateral sclerosis. 20404329

2010
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		T 0.830 CausalMutation CLINVAR Structural and biophysical properties of metal-free pathogenic SOD1 mutants A4V and G93A. 19800308

2009
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.830 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: rs121912442
rs121912442
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.830 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