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: rs119103267
rs119103267
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		T 0.800 GeneticVariation CLINVAR Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. 26085578 2015
dbSNP: rs119103267
rs119103267
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.800 GeneticVariation UNIPROT
dbSNP: rs119103267
rs119103267
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		T 0.800 CausalMutation CLINVAR