Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 CausalMutation CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000

2016
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 CausalMutation CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208

2016