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 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 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 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 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 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 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 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 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 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 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 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 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 GeneticVariation CLINVAR Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. 15549395

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 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 GeneticVariation CLINVAR MFN2 mutations cause compensatory mitochondrial DNA proliferation. 22492563

2012
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.140 GeneticVariation CLINVAR Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening. 21737751

2011
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.140 GeneticVariation CLINVAR Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect. 17595294

2007
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.140 GeneticVariation CLINVAR Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. 17035524

2006
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.140 GeneticVariation CLINVAR CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase. 26503042

2015
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.140 GeneticVariation CLINVAR Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease. 27008886

2016
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.140 GeneticVariation CLINVAR Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases. 26138142

2015
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.120 GeneticVariation CLINVAR

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.100 GeneticVariation CLINVAR Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy. 16218190

2005