Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
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
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.430 GeneticVariation disease BEFREE In this study, we report two patients with early onset epileptic encephalopathy possessing de novo DNM1 mutations. 26611353 2016
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
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
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.430 GeneticVariation disease CLINVAR
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.430 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.430 Biomarker disease HPO