| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.020 | GeneticVariation | BEFREE | Missense mutation of SPAST protein (I344K) results in loss of ATPase activity and prolonged the half-life, implicated in autosomal dominant hereditary spastic paraplegia. | 30006150 | 2018 |
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|
0.020 | GeneticVariation | BEFREE | A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia. | 12202986 | 2002 |
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|
0.010 | GeneticVariation | BEFREE | A novel pathogenic KIAA0196 mutation p.(Gly696Ala) was identified in two AD-HSP patients, who subsequently were shown to belong to a single large Dutch pedigree with more than 10 affected family members. | 23455931 | 2013 |
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|
0.010 | GeneticVariation | BEFREE | Autosomal dominant hereditary spastic paraplegia: report of a large Italian family with R581X spastin mutation. | 17690846 | 2007 |
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|
0.010 | GeneticVariation | BEFREE | Subsequent mutation analysis identified a novel missense substitution in a highly conserved NIPA1 residue (G106R) which further confirms a causative link between NIPA1 mutation and autosomal dominant hereditary spastic paraplegia. | 15711826 | 2005 |
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|
0.010 | GeneticVariation | BEFREE | A founder SPG4 mutation N386S was identified in the families with ADHSP originating from southern Scotland. | 15210521 | 2004 |
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|
0.010 | GeneticVariation | BEFREE | The R239C mutation was found to co-segregate with the disease in one English ADHSP family confirming a widespread prevalence for this commonly occurring mutation. | 14607301 | 2003 |
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|
0.010 | GeneticVariation | BEFREE | A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia. | 12202986 | 2002 |