Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 GeneticVariation CLINVAR Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease. 25403865

2014
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 GeneticVariation CLINVAR Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. 24957169

2014
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. 24627108

2014
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR Chronic and slowly progressive weakness of the legs and hands. 24473995

2014
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 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
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 GeneticVariation CLINVAR Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series. 24078732

2013
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion. 22926664

2013
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR [MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic]. 24450158

2013
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. 22851605

2012
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration. 22442078

2012
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR MFN2 mutations cause compensatory mitochondrial DNA proliferation. 22492563

2012
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 GeneticVariation CLINVAR MFN2 mutations cause compensatory mitochondrial DNA proliferation. 22492563

2012
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 GeneticVariation CLINVAR Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. 21715711

2011
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. 21326314

2011
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR MFN2 mutations cause severe phenotypes in most patients with CMT2A. 21508331

2011
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 GeneticVariation CLINVAR MFN2 mutations cause severe phenotypes in most patients with CMT2A. 21508331

2011
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR Structural and functional measures of inner retinal integrity following visual acuity improvement in a patient with hereditary motor and sensory neuropathy type VI. 21707411

2011
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 GeneticVariation CLINVAR Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2. 21258814

2011
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2. 21531138

2011
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene. 20951041

2011
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation. 21285398

2011
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013

2011
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889

2011
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation CLINVAR Phenotypic spectrum of MFN2 mutations in the Spanish population. 19889647

2010