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 Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex. 20335458

2010
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 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. 20350294

2010
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 Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. 20008656

2009
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 A mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover. 19812251

2009
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 A mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover. 19812251

2009
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 A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs. 19350291

2009
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 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 Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A. 17959936

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 GeneticVariation CLINVAR Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A. 17959936

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 GeneticVariation CLINVAR Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations. 18316077

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 Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings. 18996695

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 Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. 18946002

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 Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations. 18316077

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 Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations. 18425620

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 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 CausalMutation CLINVAR Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2. 17309650

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 CausalMutation CLINVAR Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease. 17444508

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 CausalMutation CLINVAR Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. 17215403

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 CausalMutation CLINVAR Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A). 17437620

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 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 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 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 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 Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. 16437557

2006