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: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		0.700 Biomarker disease CLINGEN Additionally, we demonstrate that CNM-related DNM2 mutations are associated with protein mislocalization and aggregation. 31691805 2019
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		0.700 Biomarker disease BEFREE To address these gaps in knowledge, we developed transgenic zebrafish expressing either wild type dynamin 2 or dynamin 2 with either a CNM or CMT mutation. 31691805 2019
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.200 GeneticVariation disease BEFREE To address these gaps in knowledge, we developed transgenic zebrafish expressing either wild type dynamin 2 or dynamin 2 with either a CNM or CMT mutation. 31691805 2019
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.070 GeneticVariation group BEFREE Heterozygous mutations in DNM2 are associated with two distinct neuromuscular disorders, Charcot-Marie-Tooth Disease (CMT) and autosomal dominant centronuclear myopathy (CNM). 31691805 2019
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 GeneticVariation disease BEFREE Dominant mutations in DNM2 result in tissue specific diseases affecting peripheral nerves (Charcot-Marie-Tooth neuropathy, CMT) or skeletal muscles (Centronuclear myopathy, CNM). 31628461 2019
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.200 GeneticVariation disease BEFREE Dominant mutations in DNM2 result in tissue specific diseases affecting peripheral nerves (Charcot-Marie-Tooth neuropathy, CMT) or skeletal muscles (Centronuclear myopathy, CNM). 31628461 2019
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.100 GeneticVariation group BEFREE Dominant mutations in DNM2 result in tissue specific diseases affecting peripheral nerves (Charcot-Marie-Tooth neuropathy, CMT) or skeletal muscles (Centronuclear myopathy, CNM). 31628461 2019
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.100 GeneticVariation phenotype GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.050 Biomarker phenotype BEFREE In a lung metastasis assay, NME1 overexpression failed to significantly suppress metastasis in the DNM2 knockdown MDA-MB-231T cells. 31311812 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 Biomarker group BEFREE NME-DNM2 interaction may contribute to metastasis suppression by altering tumor endocytic and motility phenotypes. 31311812 2019
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.010 Biomarker group BEFREE Dnm2fl/f PF4-Cre (Dnm2<sup>Plt-/-</sup>) mice specifically lacking dynamin 2 within the platelet lineage developed severe thrombocytopenia and bleeding diathesis and Dnm2Plt platelets adhered poorly to collagen under arterial shear rates. 31296575 2019
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.010 Biomarker phenotype BEFREE Dnm2fl/f PF4-Cre (Dnm2<sup>Plt-/-</sup>) mice specifically lacking dynamin 2 within the platelet lineage developed severe thrombocytopenia and bleeding diathesis and Dnm2Plt platelets adhered poorly to collagen under arterial shear rates. 31296575 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 GeneticVariation phenotype BEFREE Increased expression levels of the gene for caveolin, <i>Cav-1</i>, resulting in augmented cellular metastasis and invasion, have been demonstrated in various types of cancer, and overexpression of the gene for dynamin-2, <i>DNM2</i>, has been associated with tumorigenesis in cervical, pancreatic and lung cancer. 31289491 2019
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 AlteredExpression disease BEFREE Caveolin-1 and dynamin-2 overexpression is associated with the progression of bladder cancer. 31289491 2019
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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 GeneticVariation disease BEFREE Increased expression levels of the gene for caveolin, <i>Cav-1</i>, resulting in augmented cellular metastasis and invasion, have been demonstrated in various types of cancer, and overexpression of the gene for dynamin-2, <i>DNM2</i>, has been associated with tumorigenesis in cervical, pancreatic and lung cancer. 31289491 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 GeneticVariation disease BEFREE Increased expression levels of the gene for caveolin, <i>Cav-1</i>, resulting in augmented cellular metastasis and invasion, have been demonstrated in various types of cancer, and overexpression of the gene for dynamin-2, <i>DNM2</i>, has been associated with tumorigenesis in cervical, pancreatic and lung cancer. 31289491 2019
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 AlteredExpression disease BEFREE Caveolin-1 and dynamin-2 overexpression is associated with the progression of bladder cancer. 31289491 2019
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 GeneticVariation disease BEFREE Increased expression levels of the gene for caveolin, <i>Cav-1</i>, resulting in augmented cellular metastasis and invasion, have been demonstrated in various types of cancer, and overexpression of the gene for dynamin-2, <i>DNM2</i>, has been associated with tumorigenesis in cervical, pancreatic and lung cancer. 31289491 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.110 GeneticVariation disease GWASCAT Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy. 31095341 2020
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 Biomarker disease BEFREE Collectively, our SICM-FCM findings at single CCP level, backed up by electron microscopy data, argue for the impairment of several forms of endocytosis in <i>DNM2</i>-linked CNM.-Ali, T., Bednarska, J., Vassilopoulos, S., Tran, M., Diakonov, I. 31017801 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.050 Biomarker phenotype BEFREE SIGNIFICANCE: These findings reveal that a novel interaction between podocalyxin and dynamin-2 promotes migration and metastasis of pancreatic cancer cells by regulating microtubule and focal adhesion dynamics. 30975647 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.020 Biomarker disease BEFREE This podocalyxin-dynamin-2 interaction regulated microtubule growth rate, which in turn modulated focal adhesion dynamics and ultimately promoted efficient pancreatic cancer cell migration via microtubule- and Src-dependent pathways. 30975647 2019
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.020 Biomarker disease BEFREE This podocalyxin-dynamin-2 interaction regulated microtubule growth rate, which in turn modulated focal adhesion dynamics and ultimately promoted efficient pancreatic cancer cell migration via microtubule- and Src-dependent pathways. 30975647 2019
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.900 GeneticVariation disease BEFREE In this study, we tested allele-specific inactivation or correction of a heterozygous mutation in the Dynamin 2 (DNM2) gene that causes the autosomal dominant form of centronuclear myopathies (CNMs), a rare muscle disorder belonging to the large group of congenital myopathies. 30925452 2019