MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Disease: Hereditary Motor and Sensory-Neuropathy Type II ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557525153
rs1557525153
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		G 0.700 GeneticVariation CLINVAR Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series. 24078732 2013
dbSNP: rs1557525153
rs1557525153
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		G 0.700 GeneticVariation CLINVAR Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2. 21258814 2011
dbSNP: rs1557525153
rs1557525153
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		G 0.700 GeneticVariation CLINVAR MFN2 mutations cause severe phenotypes in most patients with CMT2A. 21508331 2011
dbSNP: rs1557525153
rs1557525153
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		G 0.700 GeneticVariation CLINVAR Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 15064763 2004