rs773159585, MFN2

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
0.700 GeneticVariation CLINVAR Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease. 25403865 2014
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
0.700 GeneticVariation CLINVAR Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. 15549395 2005
Distal muscle weakness
CUI: C0427065
Disease: Distal muscle weakness
0.700 GeneticVariation CLINVAR
Peripheral axonal neuropathy
CUI: C1263857
Disease: Peripheral axonal neuropathy
0.700 GeneticVariation CLINVAR
Distal lower limb amyotrophy
CUI: C1836451
Disease: Distal lower limb amyotrophy
0.700 GeneticVariation CLINVAR