MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Disease: Charcot-Marie-Tooth disease, Type 2A ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940291
rs28940291
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C2079538
Disease:
Charcot-Marie-Tooth disease, Type 2A 		0.030 GeneticVariation BEFREE To examine whether mitochondrial dysfunction is a feature of CMT2A, we used a transgenic mouse model expressing in neurons a mutated R94Q form of human MFN2 shown to induce a CMT2A phenotype. 21285398 2011
dbSNP: rs28940291
rs28940291
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C2079538
Disease:
Charcot-Marie-Tooth disease, Type 2A 		0.030 GeneticVariation BEFREE Only mice expressing mitofusin 2(R94Q) developed locomotor impairments and gait defects thus mimicking the Charcot-Marie-Tooth disease type 2A neuropathy. 20418531 2010
dbSNP: rs28940291
rs28940291
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C2079538
Disease:
Charcot-Marie-Tooth disease, Type 2A 		0.030 GeneticVariation BEFREE Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A). 17437620 2007