| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.030 | GeneticVariation | BEFREE | Collectively, our results suggest that S44L in association with c.1687G>A (E563K) drops the functional level of spastin below a threshold limit sufficient to manifest HSP. | 18190593 | 2008 |
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|
0.030 | GeneticVariation | BEFREE | We confirm these associations for p.S44L but do not detect two other variants (p.E43Q; p.P45Q) in HSP patients and controls. | 17916079 | 2007 |
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|
0.030 | GeneticVariation | BEFREE | Our identification of S44L and P45Q as modifiers of the HSP phenotype suggests a role for spastin phosphorylation by Cdks in the neurodegeneration of the most-common form of HSP. | 15248095 | 2004 |
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|
0.020 | GeneticVariation | BEFREE | We investigated the role of the I344K-SPAST in HSP to provide a therapeutic mechanism. | 30006150 | 2018 |
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|
0.020 | GeneticVariation | BEFREE | We confirm these associations for p.S44L but do not detect two other variants (p.E43Q; p.P45Q) in HSP patients and controls. | 17916079 | 2007 |
||||
|
0.020 | GeneticVariation | BEFREE | Our identification of S44L and P45Q as modifiers of the HSP phenotype suggests a role for spastin phosphorylation by Cdks in the neurodegeneration of the most-common form of HSP. | 15248095 | 2004 |
||||
|
0.020 | GeneticVariation | BEFREE | Clinical presentations of affected individuals carrying the I344K mutation were not different from those of pure AD-HSP with SPG4 mutations reported previously. | 12202986 | 2002 |
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|
0.010 | GeneticVariation | BEFREE | Here, we report a new transgenic mouse (termed SPASTC448Y mouse) that is not haploinsufficient but expresses human spastin bearing the HSP pathogenic C448Y mutation. | 30520996 | 2019 |
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|
0.010 | GeneticVariation | BEFREE | Collectively, our results suggest that S44L in association with c.1687G>A (E563K) drops the functional level of spastin below a threshold limit sufficient to manifest HSP. | 18190593 | 2008 |