Gene: SOD1 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912436
rs121912436
SOD1
0.870 GeneticVariation BEFREE Although one study found that overexpression of human wild-type (WT) SOD1 did not affect disease in G85R transgenic mice, more recent reports claim that overexpression of WTSOD1 in other MTSOD1 transgenic mice hastened disease, raising a possibility that the effect of WTSOD1 overexpression in this FALS mouse model is mutant-specific. 19233858

2009
dbSNP: rs121912431
rs121912431
SOD1
0.890 GeneticVariation BEFREE MTSOD1s with full dismutase enzymatic activity (e.g., G37R) and without any enzymatic activity (e.g., G85R) cause FALS, demonstrating that the ability of MTSOD1 to cause FALS is not dependent on the dismutase activity; however, it remains unclear whether MTSOD1 dismutase activity can influence disease phenotype. 19442735

2009
dbSNP: rs121912436
rs121912436
SOD1
0.870 GeneticVariation BEFREE MTSOD1s with full dismutase enzymatic activity (e.g., G37R) and without any enzymatic activity (e.g., G85R) cause FALS, demonstrating that the ability of MTSOD1 to cause FALS is not dependent on the dismutase activity; however, it remains unclear whether MTSOD1 dismutase activity can influence disease phenotype. 19442735

2009
dbSNP: rs121912431
rs121912431
SOD1
0.890 GeneticVariation BEFREE Unveiling the unfolding pathway of FALS associated G37R SOD1 mutant: a computational study. 20485746

2010
dbSNP: rs1482760341
rs1482760341
SOD1 ; SCAF4
0.820 GeneticVariation BEFREE The authors describe a FALS pedigree with the L144F SOD1 mutation in which all cases had respiratory involvement as a first symptom. 20562451

2011
dbSNP: rs121912438
rs121912438
SOD1
0.900 GeneticVariation BEFREE Although up-regulation of caspase-12 has been reported in G93A SOD1 transgenic mice, it is controversial whether similar mechanisms operate in human FALS. 20816908

2010
dbSNP: rs121912455
rs121912455
SOD1
0.810 GeneticVariation BEFREE Involvement of Onuf's nucleus may be a characteristic pathological feature in FALS with Gly72Ser mutation in the SOD1 gene. 21084099

2011
dbSNP: rs121912438
rs121912438
SOD1
0.900 GeneticVariation BEFREE The palmitoylation of FALS-linked mtSOD1s (A4V and G93A) was significantly increased relative to that of wtSOD1 expressed in HEK cells and a motor neuron cell line. 23760509

2013
dbSNP: rs121912436
rs121912436
SOD1
0.870 GeneticVariation BEFREE The palmitoylation of FALS-linked mtSOD1s (G93A and G85R) was also increased relative to that of wtSOD1 when assayed from transgenic mouse spinal cords. 23760509

2013
dbSNP: rs121912438
rs121912438
SOD1
0.900 GeneticVariation BEFREE Use of this new FALS-24B-SOD1(G93A) fly model holds promise for better understanding of the mitochondrial affectation process in FALS and for the discovery of novel therapeutic compounds able to reverse mitochondrial dysfunction in this fatal disease. 27163198

2016
dbSNP: rs121912445
rs121912445
SOD1
0.720 GeneticVariation BEFREE This is considered to be the first description of an autopsy case of FALS with an I104F SOD1 gene mutation, suggesting that combination of marked intra-familial clinical variability and multisystem degeneration with occurrence of CIs and SOD1-positive NCIs is a characteristic feature of FALS with this SOD1 gene mutation. 27444855

2017
dbSNP: rs121912437
rs121912437
SOD1
0.820 GeneticVariation BEFREE We embryonically exposed zebrafish, Danio rerio, (transgenically overexpressing a FALS-causing SOD1-G93R mutation) to BMAA to investigate early motor neuron outgrowth in larvae and endurance and fatigability in 5-month adults. 28123103

2017