MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103265
rs119103265
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.820 GeneticVariation BEFREE The patient is a Caucasian male with HMSN VI (type 2A Charcot-Marie-Tooth disease and associated optic atrophy) and a c.1090C→T (p.R364W) mutation in the mitofusin 2 (MFN2) gene. 21707411 2011
dbSNP: rs119103265
rs119103265
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.820 GeneticVariation BEFREE We identified two HMSN VI families with the R364W mutation in the early onset group; however, two other families with the same mutation did not have optic atrophy. 16835246 2006
dbSNP: rs119103265
rs119103265
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		T 0.820 CausalMutation CLINVAR
dbSNP: rs119103265
rs119103265
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.820 GeneticVariation UNIPROT
dbSNP: rs119103267
rs119103267
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		T 0.800 GeneticVariation CLINVAR MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue. 30158064 2019
dbSNP: rs119103267
rs119103267
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		T 0.800 GeneticVariation CLINVAR Catalogue of inherited disorders found among the Irish Traveller population. 29358271 2018
dbSNP: rs119103267
rs119103267
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		T 0.800 GeneticVariation CLINVAR Genetic heterogeneity of motor neuropathies. 28251916 2017
dbSNP: rs119103267
rs119103267
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		T 0.800 GeneticVariation CLINVAR Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression. 28414270 2017
dbSNP: rs387906990
rs387906990
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.800 GeneticVariation UNIPROT Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review. 26955893 2016
dbSNP: rs387906991
rs387906991
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.800 GeneticVariation UNIPROT Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review. 26955893 2016
dbSNP: rs119103267
rs119103267
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		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 		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: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		T 0.800 GeneticVariation CLINVAR MFN2 deletion of exons 7 and 8: founder mutation in the UK population. 26114802 2015
dbSNP: rs28940292
rs28940292
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		C 0.800 CausalMutation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
dbSNP: rs387906990
rs387906990
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.800 GeneticVariation UNIPROT Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. 26085578 2015
dbSNP: rs387906991
rs387906991
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.800 GeneticVariation UNIPROT Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. 26085578 2015
dbSNP: rs119103267
rs119103267
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		T 0.800 GeneticVariation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039 2014
dbSNP: rs119103267
rs119103267
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		T 0.800 GeneticVariation CLINVAR Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients. 24126688 2013
dbSNP: rs119103267
rs119103267
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		T 0.800 GeneticVariation CLINVAR MFN2 mutations cause compensatory mitochondrial DNA proliferation. 22492563 2012
dbSNP: rs2336384
rs2336384
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0032181
Disease:
Platelet Count measurement 		G 0.800 GeneticVariation GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
dbSNP: rs2336384
rs2336384
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0032181
Disease:
Platelet Count measurement 		G 0.800 GeneticVariation GWASDB New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
dbSNP: rs28940292
rs28940292
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.800 GeneticVariation UNIPROT The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013 2011
dbSNP: rs28940294
rs28940294
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4721887
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.800 GeneticVariation UNIPROT The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013 2011
dbSNP: rs387906990
rs387906990
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.800 GeneticVariation UNIPROT Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. 21715711 2011
dbSNP: rs387906991
rs387906991
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C4310725
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		T 0.800 GeneticVariation CLINVAR Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. 21715711 2011