| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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0.080 | GeneticVariation | BEFREE | Mutations in this position (R521C and R521H) are the most predominant mutations associated with amyotrophic lateral sclerosis (ALS). | 27381509 | 2017 |
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0.080 | GeneticVariation | BEFREE | Genetic ablation of the fly homologue of human PRMT1 (DART1) exacerbated the neurodegeneration induced by overexpression of FUS-WT and R521H FUS mutant in a Drosophila model of FUS-related ALS. | 23620769 | 2013 |
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0.080 | GeneticVariation | BEFREE | To characterize the cellular pathophysiological defect, we expressed the wild-type human gene (wtFUS) or the ALS-associated mutation R521H (mutFUS) gene in zebrafish larvae and characterized their motor (swimming) activity and function of their neuromuscular junctions (NMJs). | 23771027 | 2013 |
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0.080 | 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 |
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0.080 | GeneticVariation | BEFREE | A c.1562G>A (p.R521H) missense mutation was identified in two patients with sporadic ALS. | 22340366 | 2012 |
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0.080 | GeneticVariation | BEFREE | We identified a R521H mutation in 4 patients, belonging to a kindred of dominantly inherited classical ALS.The mutation segregated with disease. | 19922450 | 2010 |
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0.080 | GeneticVariation | BEFREE | The p.Arg521His mutation was identified in a patient who initially had behavioral disorders and rapidly developed ALS. | 21158017 | 2010 |
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0.080 | GeneticVariation | BEFREE | Further, we observed the known R521H mutation in 1 patient with ALS. | 20124201 | 2010 |