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: rs794729198
rs794729198
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: rs794729198
rs794729198
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		T 0.700 CausalMutation CLINVAR Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. 21326314 2011