Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912431
rs121912431
SOD1
0.740 GeneticVariation BEFREE Using a motor neuron disease mouse model expressing human SOD1-G37R, we herein report the immunogenicity and therapeutic efficacy of two ALS vaccines, tgG-DSE2lim and tgG-DSE5b, based on the notion that native SOD1 would undergo early unfolding in disease to present "disease specific epitopes" (DSE). 31324499

2019
dbSNP: rs121912431
rs121912431
SOD1
A 0.740 CausalMutation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114

2017
dbSNP: rs121912431
rs121912431
SOD1
0.740 GeneticVariation BEFREE The establishment of this SOD1-G37R cDNA transgenic model indicates that expression of mutant SOD1 proteins in the neuromuscular unit is sufficient to cause motor neuron disease. 16046140

2005
dbSNP: rs121912431
rs121912431
SOD1
0.740 GeneticVariation BEFREE To test these possibilities, levels of nitrotyrosine and markers for hydroxyl radical formation were measured in two lines of transgenic mice that develop progressive motor neuron disease from expressing human familial ALS-linked SOD1 mutation G37R. 9207139

1997
dbSNP: rs121912431
rs121912431
SOD1
0.740 GeneticVariation BEFREE Four lines of mice accumulating one of these mutant proteins (G37R) develop severe, progressive motor neuron disease. 7605627

1995
dbSNP: rs1131690775
rs1131690775
NEK1
C 0.700 GeneticVariation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114

2017
dbSNP: rs1131690781
rs1131690781
SOD1 ; SCAF4
A 0.700 GeneticVariation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114

2017
dbSNP: rs1131690782
rs1131690782
TARDBP
T 0.700 CausalMutation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114

2017
dbSNP: rs121912437
rs121912437
SOD1
C 0.700 CausalMutation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114

2017
dbSNP: rs121912439
rs121912439
SOD1
G 0.700 CausalMutation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114

2017
dbSNP: rs121912441
rs121912441
SOD1
C 0.700 CausalMutation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114

2017
dbSNP: rs142812715
rs142812715
OPTN
T 0.700 CausalMutation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114

2017
dbSNP: rs200161705
rs200161705
NEK1
T 0.700 GeneticVariation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114

2017
dbSNP: rs34324114
rs34324114
NEK1
C 0.700 GeneticVariation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114

2017
dbSNP: rs377607698
rs377607698
NEK1
A 0.700 GeneticVariation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114

2017
dbSNP: rs55824172
rs55824172
TBK1
T 0.700 GeneticVariation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114

2017
dbSNP: rs747481280
rs747481280
OPTN
G 0.700 GeneticVariation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114

2017
dbSNP: rs772747361
rs772747361
NEK1
T 0.700 GeneticVariation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114

2017
dbSNP: rs776098853
rs776098853
NEK1
T 0.700 GeneticVariation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114

2017
dbSNP: rs80356719
rs80356719
TARDBP
A 0.700 CausalMutation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114

2017
dbSNP: rs895824243
rs895824243
OPTN
C 0.700 GeneticVariation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114

2017
dbSNP: rs905184241
rs905184241
TBK1
G 0.700 GeneticVariation CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114

2017
dbSNP: rs121912438
rs121912438
SOD1
0.100 GeneticVariation BEFREE Using a mouse model expressing a mutant SEMA3A with diminished signaling capacity, we studied the influence of SEMA3A signaling at the NMJ with two denervation paradigms; a motor neuron disease model (the G93A-hSOD1 ALS mouse line) and an injury model (BotoxA-induced paralysis). 28103314

2017
dbSNP: rs121912438
rs121912438
SOD1
0.100 GeneticVariation BEFREE Here, to investigate the role of proliferating cells in motor neuron disease, SOD1(G93A) transgenic mice were treated intracerebroventicularly (i.c.v.) with the anti-mitotic drug cytosine arabinoside (Ara-C).I.c.v. delivery of Ara-C accelerated disease progression in SOD1(G93A) mouse model of ALS. 22523565

2012
dbSNP: rs121912438
rs121912438
SOD1
0.100 GeneticVariation BEFREE To establish the timeframe of motor neuron degeneration in relation to muscle atrophy in motor neuron disease, we have used MRI to monitor changes throughout disease in brain and skeletal muscle of G93A-SOD1 mice, a purported model of ALS. 21620832

2011