MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940296
rs28940296
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.700 GeneticVariation UNIPROT The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013 2011
dbSNP: rs28940296
rs28940296
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		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: rs28940296
rs28940296
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.700 GeneticVariation UNIPROT Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). 16762064 2006
dbSNP: rs28940296
rs28940296
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.700 GeneticVariation UNIPROT Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. 15549395 2005
dbSNP: rs28940296
rs28940296
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.700 GeneticVariation UNIPROT Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. 15064763 2004