Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
0.100 CausalMutation phenotype CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
0.100 CausalMutation phenotype CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016