MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Disease: Hereditary Motor and Sensory-Neuropathy Type II ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553144086
rs1553144086
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.700 GeneticVariation CLINVAR Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review. 26955893 2016
dbSNP: rs1553144086
rs1553144086
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.700 GeneticVariation CLINVAR Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. 21715711 2011
dbSNP: rs1553144086
rs1553144086
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.700 GeneticVariation CLINVAR MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. 16714318 2006