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: rs879253777
rs879253777
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		T 0.700 CausalMutation CLINVAR The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. 26378787 2016
dbSNP: rs879253777
rs879253777
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		A 0.700 CausalMutation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
dbSNP: rs879253777
rs879253777
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		A 0.700 CausalMutation CLINVAR Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. 15549395 2005
dbSNP: rs879253777
rs879253777
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		T 0.700 CausalMutation CLINVAR Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. 15549395 2005