| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.800 | GeneticVariation | UNIPROT | The frequency of spinocerebellar ataxia type 23 in a UK population. | 23108490 | 2013 | |||||||
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0.800 | GeneticVariation | UNIPROT | Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases. | 23471613 | 2013 | |||||||
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0.800 | GeneticVariation | UNIPROT | The frequency of spinocerebellar ataxia type 23 in a UK population. | 23108490 | 2013 | |||||||
|
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|
0.800 | GeneticVariation | UNIPROT | Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases. | 23471613 | 2013 | |||||||
|
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|
0.800 | GeneticVariation | UNIPROT | Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases. | 23471613 | 2013 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | The frequency of spinocerebellar ataxia type 23 in a UK population. | 23108490 | 2013 | |||||||
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0.800 | GeneticVariation | UNIPROT | Perturbations of model membranes induced by pathogenic dynorphin A mutants causing neurodegeneration in human brain. | 21712028 | 2011 | |||||||
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0.800 | GeneticVariation | UNIPROT | Perturbations of model membranes induced by pathogenic dynorphin A mutants causing neurodegeneration in human brain. | 21712028 | 2011 | |||||||
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0.800 | GeneticVariation | UNIPROT | Perturbations of model membranes induced by pathogenic dynorphin A mutants causing neurodegeneration in human brain. | 21712028 | 2011 | |||||||
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0.800 | GeneticVariation | UNIPROT | EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. | 20050888 | 2010 | |||||||
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0.800 | GeneticVariation | UNIPROT | EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. | 20050888 | 2010 | |||||||
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0.800 | GeneticVariation | UNIPROT | Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. | 21035104 | 2010 | |||||||
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0.800 | GeneticVariation | UNIPROT | Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. | 21035104 | 2010 | |||||||
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|
0.800 | GeneticVariation | UNIPROT | EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. | 20050888 | 2010 | |||||||
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|
0.800 | GeneticVariation | UNIPROT | EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. | 20050888 | 2010 | |||||||
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0.800 | GeneticVariation | UNIPROT | Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. | 21035104 | 2010 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | GeneticVariation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
|
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0.700 | GeneticVariation | UNIPROT | Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases. | 23471613 | 2013 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | The frequency of spinocerebellar ataxia type 23 in a UK population. | 23108490 | 2013 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Perturbations of model membranes induced by pathogenic dynorphin A mutants causing neurodegeneration in human brain. | 21712028 | 2011 | |||||||
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|
|
0.700 | GeneticVariation | UNIPROT | Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. | 21035104 | 2010 |