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: C4025785
Disease: Abnormality of the foot musculature
Abnormality of the foot musculature 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 GeneticVariation disease BEFREE Mutations in DNM2 are common in early T-cell precursor acute lymphoblastic leukemia. 27885263 2016
CUI: C0001486
Disease: Adenovirus Infections
Adenovirus Infections 		0.010 Biomarker group BEFREE Ionizing radiation-induced adenovirus infection is mediated by Dynamin 2. 15994918 2005
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE Dynamin 2 inhibition therefore represents a novel approach for stem cell-directed Glioblastoma therapy. 30907150 2019
CUI: C0085623
Disease: Akinesia
Akinesia 		0.010 GeneticVariation disease BEFREE We report the first homozygous mutation in the DNM2 protein p.Phe379Val, in three consanguineous patients with a lethal congenital syndrome associating akinesia, joint contractures, hypotonia, skeletal abnormalities, and brain and retinal hemorrhages. 23092955 2013
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.020 Biomarker disease BEFREE Dynamin 2 gene is a novel susceptibility gene for late-onset Alzheimer disease in non-APOE-epsilon4 carriers. 18236001 2008
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.020 AlteredExpression disease BEFREE These data suggest that DNM2 expression is reduced in LOAD, which results in the accumulation of APP in lipid raft-rich plasma membranes. 19126407 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 AlteredExpression disease LHGDN Decrease of dynamin 2 levels in late-onset Alzheimer's disease alters Abeta metabolism. 19126407 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 GeneticVariation disease BEFREE It has been shown that beta amyloid, deposited in the AD brain, interacts with dynamin 1 and that the dynamin 2 (DNM2) gene homologous to the dynamin 1 gene is encoded at chromosome 19p13.2 where a susceptibility locus has been detected by linkage analysis. 18236001 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 Biomarker disease LHGDN It has been shown that beta amyloid, deposited in the AD brain, interacts with dynamin 1 and that the dynamin 2 (DNM2) gene homologous to the dynamin 1 gene is encoded at chromosome 19p13.2 where a susceptibility locus has been detected by linkage analysis. 18236001 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 GeneticVariation disease BEFREE Furthermore, single nucleotide polymorphisms located in the dynamin-2 gene have been associated with sporadic Alzheimer's disease. 24102355 2014
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs 		0.100 Biomarker phenotype HPO
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		0.100 Biomarker disease HPO
CUI: C3661489
Disease: Autosomal Dominant Myotubular Myopathy
Autosomal Dominant Myotubular Myopathy 		0.300 Biomarker disease CTD_human Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. 17376685 2007
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		0.310 Biomarker disease CTD_human Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. 17376685 2007
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		0.310 Biomarker disease BEFREE Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. 17676042 2007
CUI: C1837496
Disease: Axonal degeneration
Axonal degeneration 		0.100 Biomarker phenotype HPO
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.020 Biomarker disease BEFREE The histopathological findings indicate the coexistence of typical axonal neuropathy and chronic myopathy in DNM2-related neuromuscular diseases. 28971531 2018
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.020 Biomarker disease BEFREE Symptoms in DNM2-CNM included bilateral ptosis (n = 3), paresis of the external ocular muscles (n = 2), axonal neuropathy (n = 4), restrictive ventilatory involvement (n = 5), and contractures (n = 5), including muscular torticollis (n = 1) and masticatory muscles (n = 2). 21221624 2011
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.020 Biomarker disease BEFREE Whilst DNM2-related CMT may feature non-neurological findings including cataracts, this has not been reported in DNM2-related centronuclear myopathy. 19932620 2010
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.020 GeneticVariation disease BEFREE We conclude that dynamin 2 mutations should be screened in the autosomal dominant Charcot-Marie-Tooth neuropathy families with intermediate or axonal NCV, and in patients with a classical mild to moderately severe Charcot-Marie-Tooth phenotype, especially when Charcot-Marie-Tooth is associated with neutropaenia or cataracts. 19502294 2009
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 AlteredExpression disease BEFREE Caveolin-1 and dynamin-2 overexpression is associated with the progression of bladder cancer. 31289491 2019
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 GeneticVariation disease BEFREE Symptoms in DNM2-CNM included bilateral ptosis (n = 3), paresis of the external ocular muscles (n = 2), axonal neuropathy (n = 4), restrictive ventilatory involvement (n = 5), and contractures (n = 5), including muscular torticollis (n = 1) and masticatory muscles (n = 2). 21221624 2011