Source: CURATED ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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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 | Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. | 16401742 | 2006 |
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0.700 | GeneticVariation | UNIPROT | Early-onset familial parkinsonism due to POLG mutations. | 16634032 | 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 | 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 | Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene. | 15349879 | 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 | Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. | 15351195 | 2004 |
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0.700 | GeneticVariation | UNIPROT | Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). | 12707443 | 2003 |
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0.700 | GeneticVariation | UNIPROT | POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. | 14635118 | 2003 |
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0.700 | GeneticVariation | UNIPROT | Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. | 12975295 | 2003 |
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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 |
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0.700 | GeneticVariation | UNIPROT | Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. | 12872260 | 2003 |
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0.700 | GeneticVariation | UNIPROT | Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. | 11431686 | 2001 |