Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
0.030 Biomarker disease BEFREE Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy. 30801875 2019
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
0.030 GeneticVariation disease BEFREE A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy. 30939602 2019
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
0.030 GeneticVariation disease BEFREE A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016