| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | GeneticVariation | UNIPROT | Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). | 28137957 | 2017 |
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0.710 | GeneticVariation | UNIPROT | Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism. | 22768177 | 2012 |
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0.710 | GeneticVariation | UNIPROT | Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. | 22388936 | 2012 |
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|
0.710 | GeneticVariation | UNIPROT | ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome. | 22296644 | 2012 |
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|
0.710 | GeneticVariation | UNIPROT | Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. | 20853184 | 2011 |
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|
0.710 | GeneticVariation | BEFREE | Recently, we identified novel compound heterozygous mutations, c.3176T>G (p.L1059R) and c.3253delC (p.L1085WfsX1088) in ATP13A2 of two siblings affected with KRS. | 21542062 | 2011 |
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|
0.710 | GeneticVariation | UNIPROT | Recently, we identified novel compound heterozygous mutations, c.3176T>G (p.L1059R) and c.3253delC (p.L1085WfsX1088) in ATP13A2 of two siblings affected with KRS. | 21542062 | 2011 |
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|
0.710 | GeneticVariation | UNIPROT | Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. | 20683840 | 2010 |
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0.710 | GeneticVariation | UNIPROT | PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype. | 18413573 | 2008 |
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|
0.710 | GeneticVariation | UNIPROT | ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. | 17485642 | 2007 |
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|
0.710 | GeneticVariation | UNIPROT | Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. | 16964263 | 2006 |