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: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.110 GeneticVariation disease BEFREE Dynamin-1-like protein (DNM1L) gene variants have been linked to childhood refractory epilepsy, developmental delay, encephalopathy, microcephaly, and progressive diffuse cerebral atrophy. 30767894 2019
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.110 Biomarker disease HPO