OVOL2, ovo like zinc finger 2, 58495

N. diseases: 58; N. variants: 9
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555789140
rs1555789140
Entrez Id: 27131;58495;92667
Gene Symbol: SNX5;OVOL2;MGME1
SNX5;OVOL2;MGME1
CUI: C3554462
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 11 		T 0.700 CausalMutation CLINVAR Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. 28711739 2017