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 Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 24604904

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 Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. 18957892

2008
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 Acute optic neuropathy associated with a novel MFN2 mutation. 25957633

2015
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 Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. 16043786

2005
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 Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations. 17296794

2007
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 Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 15064763

2004
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 Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties. 25448007

2015
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 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 CausalMutation CLINVAR MFN2 deletion of exons 7 and 8: founder mutation in the UK population. 26114802

2015
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 Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy. 26307494

2015
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 The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

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 Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). 16762064

2006
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 Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients. 27862672

2017
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 Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease. 24819634

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 Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review. 26955893

2016
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 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. 16714318

2006
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 heterogeneity of motor neuropathies. 28251916

2017
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 Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model. 24862862

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: 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 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 MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. 16714318

2006
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