Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
0.700 GeneticVariation disease UNIPROT Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review. 26955893 2016
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
0.700 GeneticVariation disease CLINVAR Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. 26085578 2015
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
0.700 GeneticVariation disease UNIPROT Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. 26085578 2015
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
0.700 Biomarker disease GENOMICS_ENGLAND Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. 21715711 2011
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
0.700 GeneticVariation disease CLINVAR Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. 21715711 2011
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
0.700 GeneticVariation disease UNIPROT Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. 21715711 2011
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
0.700 GeneticVariation disease UNIPROT MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. 20350294 2010
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
0.700 GeneticVariation disease UNIPROT Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. 18458227 2008
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
0.700 GeneticVariation disease CLINVAR Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. 18458227 2008
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
0.700 GeneticVariation disease CLINVAR Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. 16835246 2006
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
0.700 CausalMutation disease CLINVAR
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
0.700 Biomarker disease CTD_human