DNM1L, dynamin 1 like, 10059

N. diseases: 273; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder)
0.700 GeneticVariation disease UNIPROT Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission. 28969390 2017
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder)
0.700 CausalMutation disease CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND A lethal defect of mitochondrial and peroxisomal fission. 17460227 2007
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder)
0.700 GeneticVariation disease CLINVAR
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder)
0.700 Biomarker disease CTD_human