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: rs773159585
rs773159585
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 GeneticVariation CLINVAR Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease. 25403865 2014
dbSNP: rs773159585
rs773159585
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 GeneticVariation CLINVAR Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. 15549395 2005