DNM1, dynamin 1, 1759

N. diseases: 114; N. variants: 19
Disease: Epileptic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 GeneticVariation disease BEFREE Pathogenic variants in DNM1 have been implicated in global developmental delay (DD), severe intellectual disability (ID), and notably, epileptic encephalopathy. 29397573 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 GeneticVariation disease BEFREE In this study, we report two patients with early onset epileptic encephalopathy possessing de novo DNM1 mutations. 26611353 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 GeneticVariation disease BEFREE We bring statistical evidence that mutations in DNM1 cause epileptic encephalopathy, find suggestive evidence for a role of three additional genes, and show that at least 12% of analyzed individuals have an identifiable causal de novo mutation. 25262651 2014
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 GeneticVariation disease CLINVAR
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 Biomarker disease GENOMICS_ENGLAND
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 Biomarker disease GENOMICS_ENGLAND