Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103263
rs119103263
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
0.800 CausalMutation CLINVAR Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. 16437557

2006

dbSNP: rs119103263
rs119103263
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
0.800 CausalMutation CLINVAR Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. 16835246

2006

dbSNP: rs119103263
rs119103263
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
0.800 CausalMutation CLINVAR Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 15064763

2004