Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | CausalMutation | CLINVAR | Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. | 27549087 | 2016 |
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T | 0.700 | CausalMutation | CLINVAR | Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation. | 26686600 | 2016 |
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T | 0.700 | CausalMutation | CLINVAR | Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model. | 24862862 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | Application of whole exome sequencing in undiagnosed inherited polyneuropathies. | 24604904 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients. | 24126688 | 2013 |
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T | 0.700 | CausalMutation | CLINVAR | Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration. | 22442078 | 2012 |
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T | 0.700 | CausalMutation | CLINVAR | Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation. | 21285398 | 2011 |
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T | 0.700 | CausalMutation | CLINVAR | Phenotypic spectrum of MFN2 mutations in the Spanish population. | 19889647 | 2010 |
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T | 0.700 | CausalMutation | CLINVAR | Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. | 16437557 | 2006 |
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T | 0.700 | CausalMutation | CLINVAR | Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. | 15064763 | 2004 |