DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells. 28676641 2017
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 GeneticVariation disease BEFREE Our results showing, a continuum between CNM and CMTDIB phenotypes in zebrafish, similarly to the human conditions, confirm this animal model to be a powerful tool to investigate mutations of DNM2 in vivo. 26842864 2016
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR DNM2 mutations in Chinese Han patients with centronuclear myopathy. 26908122 2016
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2. 27343996 2016
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR Zebrafish as a Model to Investigate Dynamin 2-Related Diseases. 26842864 2016
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation. 26199319 2015
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy. 25492887 2015
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. 25957634 2015
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China. 25501959 2015
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy. 26273216 2015
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 Biomarker disease GENOMICS_ENGLAND The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy. 25492887 2015
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells. 24016602 2014
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy. 24465259 2014
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy. 25262827 2014
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish. 24135484 2014
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 Biomarker disease GENOMICS_ENGLAND Muscle-specific function of the centronuclear myopathy and Charcot-Marie-Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves. 23813975 2013
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. 23338057 2013
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. 23394783 2013
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2. 22613877 2012
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 Biomarker disease GENOMICS_ENGLAND Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. 22396310 2012
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR A centronuclear myopathy--dynamin 2 mutation impairs autophagy in mice. 22369075 2012
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. 22396310 2012
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. 20927630 2011
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR Common membrane trafficking defects of disease-associated dynamin 2 mutations. 21762456 2011
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.710 CausalMutation disease CLINVAR Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations. 21221624 2011