Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863224069
rs863224069
MFN2
T 0.700 CausalMutation CLINVAR Rapidly Progressive Polyneuropathy in a Patient With Monoclonal Gammopathy: A Case Report of POEMS Syndrome and Beyond. 27100445

2016
dbSNP: rs863224069
rs863224069
MFN2
T 0.700 CausalMutation CLINVAR MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients. 26801520

2016
dbSNP: rs863224069
rs863224069
MFN2
T 0.700 CausalMutation CLINVAR Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. 24957169

2014
dbSNP: rs863224069
rs863224069
MFN2
T 0.700 CausalMutation CLINVAR MFN2 mutations cause severe phenotypes in most patients with CMT2A. 21508331

2011
dbSNP: rs863224069
rs863224069
MFN2
T 0.700 CausalMutation CLINVAR A mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover. 19812251

2009
dbSNP: rs863224069
rs863224069
MFN2
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. 20008656

2009
dbSNP: rs863224069
rs863224069
MFN2
T 0.700 CausalMutation CLINVAR Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations. 18316077

2008
dbSNP: rs863224069
rs863224069
MFN2
T 0.700 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
dbSNP: rs863224069
rs863224069
MFN2
T 0.700 CausalMutation CLINVAR Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations. 17296794

2007
dbSNP: rs863224069
rs863224069
MFN2
T 0.700 CausalMutation CLINVAR Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. 16835246

2006
dbSNP: rs863224069
rs863224069
MFN2
T 0.700 CausalMutation CLINVAR Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. 16043786

2005
dbSNP: rs863224069
rs863224069
MFN2
T 0.700 CausalMutation CLINVAR Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 15064763

2004