Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1426039367
rs1426039367
CSF2
0.020 GeneticVariation BEFREE We report here that rats that express a human SOD1 transgene with two different ALS-associated mutations (G93A and H46R) develop striking motor neuron degeneration and paralysis. 16382787

2005
dbSNP: rs121912443
rs121912443
SOD1
0.020 GeneticVariation BEFREE We report here that rats that express a human SOD1 transgene with two different ALS-associated mutations (G93A and H46R) develop striking motor neuron degeneration and paralysis. 11717358

2001
dbSNP: rs1426039367
rs1426039367
CSF2
0.020 GeneticVariation BEFREE We report here that rats that express a human SOD1 transgene with two different ALS-associated mutations (G93A and H46R) develop striking motor neuron degeneration and paralysis. 11717358

2001
dbSNP: rs387907264
rs387907264
PFN1
0.010 GeneticVariation BEFREE Very recently, the C71G-PFN1 has been demonstrated to cause ALS by a gain of toxicity and the acceleration of motor neuron degeneration preceded the accumulation of its aggregates. 28847504

2017
dbSNP: rs1171108843
rs1171108843
CDCA5
0.010 GeneticVariation BEFREE In addition, expression of the phosphorylation-deficient tauS202A,T205A mutant alleviates motor neuron defects in a zebrafish SMA model in vivo and mouse motor neuron degeneration in culture, whereas expression of phosphorylation-mimetic tauS202E,T205E promotes motor neuron defects. 25878277

2015
dbSNP: rs199714029
rs199714029
FCN2
0.010 GeneticVariation BEFREE In addition, expression of the phosphorylation-deficient tauS202A,T205A mutant alleviates motor neuron defects in a zebrafish SMA model in vivo and mouse motor neuron degeneration in culture, whereas expression of phosphorylation-mimetic tauS202E,T205E promotes motor neuron defects. 25878277

2015
dbSNP: rs763459583
rs763459583
MAPT
0.010 GeneticVariation BEFREE In addition, expression of the phosphorylation-deficient tauS202A,T205A mutant alleviates motor neuron defects in a zebrafish SMA model in vivo and mouse motor neuron degeneration in culture, whereas expression of phosphorylation-mimetic tauS202E,T205E promotes motor neuron defects. 25878277

2015
dbSNP: rs141818899
rs141818899
PCBP1 ; PCBP1-AS1
0.010 GeneticVariation BEFREE Here, we report the generation of transgenic pigs expressing mutant G93A hSOD1 and showing hind limb motor defects, which are germline transmissible, and motor neuron degeneration in dose- and age-dependent manners. 24577199

2014
dbSNP: rs121909671
rs121909671
FUS
0.010 GeneticVariation BEFREE We have generated Caenorhabditis elegans and zebrafish animal models expressing mutant human TDP-43 (A315T or G348C) or FUS (S57Δ or R521H) that reflect certain aspects of ALS including motor neuron degeneration, axonal deficits, and progressive paralysis. 22848727

2012
dbSNP: rs1284398161
rs1284398161
MAP2K1
0.010 GeneticVariation BEFREE The severe neurodegeneration and neuroinflammation that occur in mnd2 (motor neuron degeneration 2) mice result from loss of the protease activity of Omi by the point mutation S276C; however, the substrates of Omi that induce neurodegeneration are unknown. 22912494

2012
dbSNP: rs80356733
rs80356733
TARDBP
0.010 GeneticVariation BEFREE We have generated Caenorhabditis elegans and zebrafish animal models expressing mutant human TDP-43 (A315T or G348C) or FUS (S57Δ or R521H) that reflect certain aspects of ALS including motor neuron degeneration, axonal deficits, and progressive paralysis. 22848727

2012
dbSNP: rs1365988292
rs1365988292
ITGAM
0.010 GeneticVariation BEFREE Therefore, in the present study, we investigated the process of motor neuron degeneration as the disease progresses and to determine whether the CypA-AIF complex would play a role in inducing motor neuronal cell death in mutant superoxide dismutase 1 (SOD1)(G93A) ALS model mice. 20553309

2011
dbSNP: rs121912431
rs121912431
SOD1
0.010 GeneticVariation BEFREE Here, we report that neuronal over-expression of CgA in SOD1(G37R) mice caused acceleration of onset of motor impairment and exacerbation of motor neuron degeneration. 20807312

2010
dbSNP: rs1279258206
rs1279258206
THY1 ; USP2-AS1
0.010 GeneticVariation BEFREE Here, we report that neuronal over-expression of CgA in SOD1(G37R) mice caused acceleration of onset of motor impairment and exacerbation of motor neuron degeneration. 20807312

2010
dbSNP: rs1355231200
rs1355231200
CHGA
0.010 GeneticVariation BEFREE Here, we report that neuronal over-expression of CgA in SOD1(G37R) mice caused acceleration of onset of motor impairment and exacerbation of motor neuron degeneration. 20807312

2010
dbSNP: rs781978795
rs781978795
CALCA ; CALCB
0.010 GeneticVariation BEFREE Taken together, this suggests that reduced levels of VGLUT2 decrease motor neuron degeneration but do not prevent loss of motor neuron function in the SOD1(G93A) mouse model for ALS. 19770042

2010
dbSNP: rs121909342
rs121909342
DCTN1
0.010 GeneticVariation BEFREE A single amino acid change, G59S, in the conserved cytoskeletal-associated protein glycine-rich (CAP-Gly) domain of the p150(glued) subunit of dynactin can cause motor neuron degeneration in humans and mice, which resembles ALS (2, 5-8). 19279216

2009
dbSNP: rs1394871648
rs1394871648
ALS2
0.010 GeneticVariation BEFREE A single amino acid change, G59S, in the conserved cytoskeletal-associated protein glycine-rich (CAP-Gly) domain of the p150(glued) subunit of dynactin can cause motor neuron degeneration in humans and mice, which resembles ALS (2, 5-8). 19279216

2009
dbSNP: rs759299980
rs759299980
SORBS1
0.010 GeneticVariation BEFREE A single amino acid change, G59S, in the conserved cytoskeletal-associated protein glycine-rich (CAP-Gly) domain of the p150(glued) subunit of dynactin can cause motor neuron degeneration in humans and mice, which resembles ALS (2, 5-8). 19279216

2009