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
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease CLINVAR MFN2 mutations cause compensatory mitochondrial DNA proliferation. 22492563 2012
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease CLINVAR Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies. 24053775 2013
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039 2014
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease CLINVAR MFN2 deletion of exons 7 and 8: founder mutation in the UK population. 26114802 2015
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease UNIPROT Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 15064763 2004
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease CLINVAR Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression. 28414270 2017
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease CLINVAR Genetic heterogeneity of motor neuropathies. 28251916 2017
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease UNIPROT MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. 20350294 2010
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease UNIPROT The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013 2011
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease CLINVAR MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. 20350294 2010
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease CLINVAR Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. 18458227 2008
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease 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
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease CLINVAR Catalogue of inherited disorders found among the Irish Traveller population. 29358271 2018
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease UNIPROT Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. 15549395 2005
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease CLINVAR MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue. 30158064 2019
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease CLINVAR Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. 26085578 2015
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease CLINVAR Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. 20008656 2009
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease BEFREE Charcot-Marie-Tooth disease Type 2A2 (CMT2A2), caused by mitofusin 2 (MFN2) genes, has been clinically classified into two types: severe early-onset and mild benign. 22762946 2013
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation disease UNIPROT Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). 16762064 2006
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.760 GeneticVariation disease UNIPROT Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 24604904 2014
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		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
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		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
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.760 GeneticVariation disease UNIPROT Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. 26085578 2015
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		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