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: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation CLINVAR MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue. 30158064

2019
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation CLINVAR Catalogue of inherited disorders found among the Irish Traveller population. 29358271

2018
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation CLINVAR Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression. 28414270

2017
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation CLINVAR Genetic heterogeneity of motor neuropathies. 28251916

2017
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 CausalMutation CLINVAR The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. 26378787

2016
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172

2015
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation CLINVAR MFN2 deletion of exons 7 and 8: founder mutation in the UK population. 26114802

2015
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation CLINVAR Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. 26085578

2015
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 CausalMutation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172

2015
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation 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: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation 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
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation 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: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation CLINVAR MFN2 mutations cause compensatory mitochondrial DNA proliferation. 22492563

2012
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 CausalMutation CLINVAR Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. 21326314

2011
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation 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: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation 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: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 GeneticVariation CLINVAR Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. 18458227

2008
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 CausalMutation CLINVAR Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. 15549395

2005
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 CausalMutation CLINVAR Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 15064763

2004