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: rs119103265
rs119103265
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.820 GeneticVariation BEFREE The patient is a Caucasian male with HMSN VI (type 2A Charcot-Marie-Tooth disease and associated optic atrophy) and a c.1090C→T (p.R364W) mutation in the mitofusin 2 (MFN2) gene. 21707411 2011
dbSNP: rs119103265
rs119103265
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.820 GeneticVariation BEFREE We identified two HMSN VI families with the R364W mutation in the early onset group; however, two other families with the same mutation did not have optic atrophy. 16835246 2006
dbSNP: rs119103265
rs119103265
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		T 0.820 CausalMutation CLINVAR
dbSNP: rs119103265
rs119103265
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.820 GeneticVariation UNIPROT