Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.010 | GeneticVariation | BEFREE | Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs. | 20806400 | 2010 |
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0.010 | GeneticVariation | BEFREE | Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610+364G>A and c.1311A>G) in OPA1, responsible for early onset optic atrophy complicated by ataxia and pyramidal signs (Behr syndrome; OMIM #210000). | 27879217 | 2016 |
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0.010 | GeneticVariation | BEFREE | Using whole exome sequencing, we identified homozygous p.Val55Ala in the THG1L (tRNA-histidine guanylyltransferase 1 like) gene in three siblings who presented with cerebellar signs, developmental delay, dysarthria, and pyramidal signs and had cerebellar atrophy on brain MRI. | 27307223 | 2016 |
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0.010 | GeneticVariation | BEFREE | G51D was associated with an unusual PD phenotype characterized by early disease onset, moderate response to levodopa, rapid progression leading to loss of autonomy and death within a few years, marked pyramidal signs including bilateral extensor plantar reflexes, occasionally spasticity, and frequently psychiatric symptoms. | 23526723 | 2013 |
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0.010 | GeneticVariation | BEFREE | Using whole exome sequencing, we identified homozygous p.Val55Ala in the THG1L (tRNA-histidine guanylyltransferase 1 like) gene in three siblings who presented with cerebellar signs, developmental delay, dysarthria, and pyramidal signs and had cerebellar atrophy on brain MRI. | 27307223 | 2016 |
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A | 0.700 | CausalMutation | CLINVAR | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||
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C | 0.700 | CausalMutation | CLINVAR | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||
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C | 0.700 | CausalMutation | CLINVAR |