MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder) ×
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: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.700 GeneticVariation UNIPROT Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. 26085578 2015
dbSNP: rs28940291
rs28940291
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.700 GeneticVariation UNIPROT Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 24604904 2014
dbSNP: rs28940291
rs28940291
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.700 GeneticVariation UNIPROT MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. 20350294 2010
dbSNP: rs28940291
rs28940291
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.700 GeneticVariation UNIPROT Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. 16437557 2006