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: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
0.350 Biomarker disease BEFREE RNA sequencing and protein expression analyses revealed that rescue is mediated in part through post-transcriptional reduction of dynamin-2, a known MTM modifier. 30451841 2018
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
0.350 AlteredExpression disease BEFREE Tamoxifen normalizes the expression level of the XLMTM disease modifiers DNM2 and PI3KC2B, likely contributing to the phenotypic rescue. 30451843 2018
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
0.350 AlteredExpression disease BEFREE DNM2 regulates membrane trafficking through vesicular scission, and it is presumed that reducing this activity accounts for improved outcome in X-linked centronuclear myopathy. 24569368 2014
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
0.350 AlteredExpression disease BEFREE Reducing dynamin 2 expression rescues X-linked centronuclear myopathy. 24569376 2014
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
0.350 GeneticVariation disease BEFREE Necklace fibers were seen neither in DNM2- or BIN1-related CNM nor in males with classical XLMTM. 19084976 2009
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
0.350 Biomarker disease CTD_human Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. 17376685 2007