Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | GeneticVariation | CLINVAR | Propofol-related infusion syndrome heralding a mitochondrial disease: case report. | 23873972 | 2013 |
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T | 0.700 | GeneticVariation | CLINVAR | Universal heteroplasmy of human mitochondrial DNA. | 23077218 | 2013 |
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T | 0.700 | GeneticVariation | CLINVAR | Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients. | 23208208 | 2013 |
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T | 0.700 | GeneticVariation | CLINVAR | Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. | 20843780 | 2011 |
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T | 0.700 | GeneticVariation | CLINVAR | mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. | 20185557 | 2010 |
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T | 0.700 | GeneticVariation | CLINVAR | POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe. | 20803511 | 2010 |
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T | 0.700 | GeneticVariation | CLINVAR | Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. | 19752458 | 2009 |
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T | 0.700 | GeneticVariation | CLINVAR | Depletion of mtDNA: syndromes and genes. | 17280874 | 2007 |
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T | 0.700 | GeneticVariation | CLINVAR | Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. | 16621917 | 2006 |