DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy
0.370 GeneticVariation disease BEFREE Based on the results of genetic analysis, these seven patients were classified as (1) X-linked recessive myotubular myopathy (patients 1-3) with MTM1 mutations and mild phenotype, (2) the autosomal dominant CNM (patients 4-6) with DNM2 mutations, and (3) the autosomal recessive CNM (patient 7) with RYR1 mutations. 30232666 2018
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy
0.370 Biomarker disease BEFREE Our results demonstrate a robust DNM2 knockdown and provide an alternative strategy based on reduction of DNM2 to treat myotubular myopathy. 29506908 2018
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy
0.370 Biomarker disease BEFREE Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice. 28589938 2017
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy
0.370 Biomarker disease CTD_human Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. 17376685 2007
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy
0.370 GeneticVariation disease LHGDN Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. 17825552 2007
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy
0.370 GeneticVariation disease BEFREE The severe neonatal X-linked form (myotubular myopathy) is due to mutations in the phosphoinositide phosphatase myotubularin (MTM1), whereas mutations in dynamin 2 (DNM2) have been found in some autosomal dominant cases. 17676042 2007
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy
0.370 GeneticVariation disease LHGDN Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. 17932957 2007
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy
0.370 GeneticVariation disease LHGDN Mutations in dynamin 2 cause dominant centronuclear myopathy. 16227997 2005