| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy. | 26307494 | 2015 |
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T | 0.700 | CausalMutation | CLINVAR | A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A. | 26382835 | 2015 |
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T | 0.700 | CausalMutation | CLINVAR | Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. | 25025039 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | MFN2 mutations cause compensatory mitochondrial DNA proliferation. | 22492563 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | Genetic spectrum of hereditary neuropathies with onset in the first year of life. | 21840889 | 2011 |
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T | 0.700 | CausalMutation | CLINVAR | Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2. | 21531138 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. | 21326314 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. | 20008656 | 2009 |
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|
T | 0.700 | CausalMutation | CLINVAR | Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations. | 18425620 | 2008 |
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T | 0.700 | CausalMutation | CLINVAR | Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. | 18946002 | 2008 |
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T | 0.700 | CausalMutation | CLINVAR | Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. | 18957892 | 2008 |