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 | The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. | 22206013 | 2011 |
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0.700 | GeneticVariation | UNIPROT | MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. | 20350294 | 2010 |
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0.700 | GeneticVariation | UNIPROT | Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). | 16762064 | 2006 |
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0.700 | GeneticVariation | UNIPROT | Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. | 15549395 | 2005 |
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0.700 | GeneticVariation | UNIPROT | Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. | 15064763 | 2004 |