OVOL2, ovo like zinc finger 2, 58495

N. diseases: 58; N. variants: 9
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554462
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11
MITOCHONDRIAL DNA DEPLETION SYNDROME 11 		0.100 CausalMutation disease CLINVAR Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. 28711739 2017