DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Disease: Myopathy, Centronuclear, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 GeneticVariation disease BEFREE Autosomal-dominant centronuclear myopathy-1 (CNM1) results from mutations in the dynamin 2 gene (DNM2) and accounts for approximately 50 % of all CNM cases. 26908122 2016
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		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: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		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: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 GeneticVariation disease UNIPROT Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. 22396310 2012
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		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: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 CausalMutation disease CLINVAR Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy. 22096584 2011
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 CausalMutation disease CLINVAR Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 20227276 2010
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 CausalMutation disease CLINVAR A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice. 20858595 2010
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 GeneticVariation disease UNIPROT Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 20227276 2010
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 GeneticVariation disease UNIPROT Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation. 19932620 2010
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 CausalMutation disease CLINVAR Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers. 20529869 2010
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 GeneticVariation disease UNIPROT Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. 19932619 2010
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 GeneticVariation disease UNIPROT A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation. 19122038 2009
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 GeneticVariation disease UNIPROT Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis. 19623537 2009
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 Biomarker disease GENOMICS_ENGLAND Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. 17932957 2007
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 Biomarker disease CTD_human Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. 17376685 2007
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 GeneticVariation disease UNIPROT Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. 17825552 2007
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 GeneticVariation disease UNIPROT Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. 17932957 2007
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. 15731758 2005
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 CausalMutation disease CLINVAR Mutations in dynamin 2 cause dominant centronuclear myopathy. 16227997 2005
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 GeneticVariation disease UNIPROT Mutations in dynamin 2 cause dominant centronuclear myopathy. 16227997 2005
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		0.710 GeneticVariation disease CLINVAR