Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 GeneticVariation UNIPROT Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. 8351519

1993
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 GeneticVariation UNIPROT Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. 8446170

1993
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		A 0.820 CausalMutation CLINVAR We have discovered a novel missense mutation (substitution of Thr for Ala4) in exon 1 (GCC to ACC) in two FALS patients from one Japanese FALS family. 8179602

1994
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 GeneticVariation UNIPROT Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene. 7881433

1994
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 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: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 GeneticVariation BEFREE We have discovered a novel missense mutation (substitution of Thr for Ala4) in exon 1 (GCC to ACC) in two FALS patients from one Japanese FALS family. 8179602

1994
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 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: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 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: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 GeneticVariation UNIPROT Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. 7870076

1994
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 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: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 GeneticVariation UNIPROT Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. 8528216

1995
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 GeneticVariation UNIPROT Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. 7887412

1995
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 GeneticVariation BEFREE These results suggest that the Ala4Thr mutation in SOD1 decreases the stability of SOD1 and that this instability may play an important role in the pathogenesis of the degeneration of motor neurons in FALS. 8830861

1996
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 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: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 GeneticVariation UNIPROT A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. 9131652

1997
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 GeneticVariation UNIPROT Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser). 9455977

1997
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 GeneticVariation UNIPROT A SOD1 gene mutation in a patient with slowly progressing familial ALS. 10430435

1999
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 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: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 GeneticVariation UNIPROT """True"" sporadic ALS associated with a novel SOD-1 mutation." 12402272

2002
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 GeneticVariation UNIPROT ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization. 12963370

2003
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 GeneticVariation UNIPROT Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants. 15056757

2004
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 GeneticVariation UNIPROT EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives. 16324086

2005
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		A 0.820 CausalMutation CLINVAR Lack of TDP-43 abnormalities in mutant SOD1 transgenic mice shows disparity with ALS. 17543992

2007
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 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
dbSNP: rs121912444
rs121912444
SOD1 ; LOC102724449
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 GeneticVariation UNIPROT Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis. 18378676

2008