Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | SANDO: two novel mutations in POLG1 gene. | 16919951 | 2006 |
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|
0.700 | GeneticVariation | UNIPROT | Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. | 16621917 | 2006 |
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|
0.700 | GeneticVariation | UNIPROT | Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. | 16639411 | 2006 |
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|
0.700 | GeneticVariation | UNIPROT | Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. | 15917273 | 2005 |
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|
0.700 | GeneticVariation | UNIPROT | Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. | 15824347 | 2005 |
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|
0.700 | GeneticVariation | UNIPROT | Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. | 16080118 | 2005 |
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|
0.700 | GeneticVariation | UNIPROT | POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. | 14745080 | 2004 |
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|
0.700 | GeneticVariation | UNIPROT | POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. | 15477547 | 2004 |
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|
0.700 | GeneticVariation | UNIPROT | Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. | 12565911 | 2003 |