Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940293
rs28940293
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		C 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014
dbSNP: rs28940293
rs28940293
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		C 0.700 CausalMutation CLINVAR Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex. 20335458

2010
dbSNP: rs28940293
rs28940293
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		C 0.700 CausalMutation CLINVAR Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. 17215403

2007
dbSNP: rs28940293
rs28940293
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		C 0.700 CausalMutation CLINVAR Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations. 17296794

2007
dbSNP: rs28940293
rs28940293
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		C 0.700 CausalMutation CLINVAR MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. 16714318

2006
dbSNP: rs28940293
rs28940293
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		C 0.700 CausalMutation CLINVAR Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 15064763

2004
dbSNP: rs28940293
rs28940293
MFN2
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		C 0.700 CausalMutation CLINVAR Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. 10732809

1997