Source: ALL
| 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 | TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. | 20880070 | 2011 |
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0.700 | GeneticVariation | UNIPROT | The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. | 20479361 | 2010 |
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0.700 | GeneticVariation | UNIPROT | Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia. | 19428252 | 2009 |
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0.700 | GeneticVariation | UNIPROT | Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. | 19353676 | 2009 |
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|
0.700 | GeneticVariation | UNIPROT | Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. | 18575922 | 2008 |
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|
0.700 | GeneticVariation | UNIPROT | Phenotype and clinical course in a family with a new de novo Twinkle gene mutation. | 18396044 | 2008 |
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0.700 | GeneticVariation | UNIPROT | Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase. | 17614277 | 2007 |
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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 | Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. | 15668446 | 2005 |
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0.700 | GeneticVariation | UNIPROT | A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. | 12921794 | 2003 |
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0.700 | GeneticVariation | UNIPROT | Clinical and molecular features of adPEO due to mutations in the Twinkle gene. | 12163192 | 2002 |
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0.700 | GeneticVariation | UNIPROT | Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. | 11431692 | 2001 |