MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Disease: Hereditary Motor and Sensory-Neuropathy Type II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 GeneticVariation disease BEFREE Mutations in the mitochondrial GTPase mitofusin 2 (MFN2) cause Charcot-Marie-Tooth disease type 2 (CMT2A), a form of peripheral neuropathy that compromises axonal function. 30911005 2019
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients. 27862672 2017
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR Genetic heterogeneity of motor neuropathies. 28251916 2017
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression. 28414270 2017
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child. 28063088 2017
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 GeneticVariation disease BEFREE The Mitofusin 2 gene (MFN2), which encodes a mitochondrial membrane protein, is known to be the first cause of autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2) with early onset. 26686600 2016
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 GeneticVariation disease CLINVAR Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review. 26955893 2016
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 GeneticVariation disease BEFREE A novel p.Val244Leu mutation in MFN2 leads to Charcot-Marie-Tooth disease type 2. 26956144 2016
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. 26378787 2016
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients. 26801520 2016
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience. 26989944 2016
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR Rapidly Progressive Polyneuropathy in a Patient With Monoclonal Gammopathy: A Case Report of POEMS Syndrome and Beyond. 27100445 2016
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. 27549087 2016
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation. 26686600 2016
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR Acute optic neuropathy associated with a novel MFN2 mutation. 25957633 2015
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties. 25448007 2015
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR MFN2 deletion of exons 7 and 8: founder mutation in the UK population. 26114802 2015
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy. 26307494 2015
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 Biomarker disease BEFREE The MFN2 gene should therefore be considered in Polish HMSN II patients, though it is still not possible to determine its position in HMSN II molecular diagnostics. 26581383 2015
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A. 26382835 2015
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. 25802885 2015
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. 26085578 2015
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients. 24863639 2015
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.200 CausalMutation disease CLINVAR Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 24604904 2014