MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553142699
rs1553142699
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.700 GeneticVariation UNIPROT Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review. 26955893 2016
dbSNP: rs1553142699
rs1553142699
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.700 GeneticVariation UNIPROT Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. 26085578 2015
dbSNP: rs1553142699
rs1553142699
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.700 GeneticVariation UNIPROT Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. 21715711 2011
dbSNP: rs1553142699
rs1553142699
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		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: rs1553142699
rs1553142699
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.700 GeneticVariation UNIPROT Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. 18458227 2008