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: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 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: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 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: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 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: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations. 18425620

2008
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. 16714318

2006