DNM1, dynamin 1, 1759

N. diseases: 114; N. variants: 19
Disease: Ethylmalonic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		0.010 GeneticVariation disease BEFREE Recently, mutations in DNM1 (dynamin 1) have been implicated in two EE syndromes, Lennox-Gastaut Syndrome and Infantile Spasms. 26125563 2015