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: C0004134
Disease: Ataxia
Ataxia
0.110 Biomarker phenotype BEFREE Drp1 deficiency has been associated with one of the major types of ataxia: autosomal recessive spastic ataxia of Charlevoix Saguenay. 28527629 2018
CUI: C0004134
Disease: Ataxia
Ataxia
0.110 Biomarker phenotype HPO