MFN2, mitofusin 2, 9927
N. diseases: 334; N. variants: 75
Source: ALL
| Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
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0.760 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
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0.760 | GeneticVariation | disease | UNIPROT | Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. | 26085578 | 2015 | ||||
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0.760 | Biomarker | disease | BEFREE | Our report expands the spectrum of MFN2-related manifestation because it indicates that visual symptoms of HMSN VI may enter in the differential with acquired or hereditary acute optic neuropathies, and that severe optic neuropathy is not invariably an early manifestation of the disease but may occur as disease progressed. | 25957633 | 2015 | ||||
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0.760 | GeneticVariation | disease | UNIPROT | Application of whole exome sequencing in undiagnosed inherited polyneuropathies. | 24604904 | 2014 | ||||
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0.760 | GeneticVariation | disease | BEFREE | The patient is a Caucasian male with HMSN VI (type 2A Charcot-Marie-Tooth disease and associated optic atrophy) and a c.1090C→T (p.R364W) mutation in the mitofusin 2 (MFN2) gene. | 21707411 | 2011 | ||||
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0.760 | Biomarker | disease | GENOMICS_ENGLAND | Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. | 21715711 | 2011 | ||||
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0.760 | GeneticVariation | disease | 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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0.760 | GeneticVariation | disease | BEFREE | We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3). | 19268652 | 2009 | ||||
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0.760 | GeneticVariation | disease | BEFREE | Complex phenotypes have been described in association with MFN2 gene mutations, including CMT2 with pyramidal features (hereditary motor and sensory neuropathy [HSMN V]) and CMT2 with optic atrophy (HMSN VI). | 18946002 | 2008 | ||||
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0.760 | GeneticVariation | disease | UNIPROT | We conclude that autosomal dominant HMSN VI is caused by mutations in MFN2, emphasizing the important role of mitochondrial function for both optic atrophies and peripheral neuropathies. | 16437557 | 2006 | ||||
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0.760 | GeneticVariation | disease | BEFREE | However, the differences between CMT2A and HMSN VI with MFN2 mutations remained to be clarified. | 16835246 | 2006 | ||||
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0.760 | GeneticVariation | disease | BEFREE | We conclude that autosomal dominant HMSN VI is caused by mutations in MFN2, emphasizing the important role of mitochondrial function for both optic atrophies and peripheral neuropathies. | 16437557 | 2006 | ||||
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0.760 | GermlineCausalMutation | disease | ORPHANET | We conclude that autosomal dominant HMSN VI is caused by mutations in MFN2, emphasizing the important role of mitochondrial function for both optic atrophies and peripheral neuropathies. | 16437557 | 2006 | ||||
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0.760 | Biomarker | disease | CTD_human | |||||||
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0.760 | CausalMutation | disease | CLINVAR | |||||||
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0.760 | GeneticVariation | disease | CLINVAR |