MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906991
rs387906991
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.800 GeneticVariation UNIPROT Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. 21715711 2011
dbSNP: rs119103267
rs119103267
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		T 0.800 GeneticVariation CLINVAR MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. 20350294 2010
dbSNP: rs28940292
rs28940292
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.800 GeneticVariation UNIPROT MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. 20350294 2010
dbSNP: rs28940294
rs28940294
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.800 GeneticVariation UNIPROT MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. 20350294 2010
dbSNP: rs387906990
rs387906990
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.800 GeneticVariation UNIPROT MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. 20350294 2010
dbSNP: rs387906991
rs387906991
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.800 GeneticVariation UNIPROT MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. 20350294 2010
dbSNP: rs119103267
rs119103267
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		T 0.800 GeneticVariation CLINVAR Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. 20008656 2009
dbSNP: rs119103267
rs119103267
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		T 0.800 GeneticVariation CLINVAR Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. 18458227 2008
dbSNP: rs387906990
rs387906990
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.800 GeneticVariation UNIPROT Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. 18458227 2008
dbSNP: rs387906991
rs387906991
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.800 GeneticVariation UNIPROT Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. 18458227 2008
dbSNP: rs387906991
rs387906991
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		T 0.800 GeneticVariation CLINVAR Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. 18458227 2008
dbSNP: rs28940292
rs28940292
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.800 GeneticVariation UNIPROT Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). 16762064 2006
dbSNP: rs28940294
rs28940294
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.800 GeneticVariation UNIPROT Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). 16762064 2006
dbSNP: rs387906991
rs387906991
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		T 0.800 GeneticVariation CLINVAR Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. 16835246 2006
dbSNP: rs28940292
rs28940292
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.800 GeneticVariation UNIPROT Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. 15549395 2005
dbSNP: rs28940294
rs28940294
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.800 GeneticVariation UNIPROT Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. 15549395 2005
dbSNP: rs28940292
rs28940292
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.800 GeneticVariation UNIPROT Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 15064763 2004
dbSNP: rs28940292
rs28940292
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		C 0.800 CausalMutation CLINVAR Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 15064763 2004
dbSNP: rs28940294
rs28940294
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.800 GeneticVariation UNIPROT Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 15064763 2004
dbSNP: rs119103263
rs119103263
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs119103263
rs119103263
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.800 GeneticVariation UNIPROT
dbSNP: rs119103264
rs119103264
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		G 0.800 CausalMutation CLINVAR
dbSNP: rs119103264
rs119103264
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.800 GeneticVariation UNIPROT
dbSNP: rs119103266
rs119103266
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.800 GeneticVariation UNIPROT
dbSNP: rs119103266
rs119103266
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		T 0.800 CausalMutation CLINVAR