Mitochondrial dna deletion syndrome

Disease Term Disease ID Gene Symbol Classification References Source
MITOCHONDRIAL DNA DEPLETION SYNDROME 11 C3554462 MGME1 Causal Pathogenic evidence from ClinVar 23313956, 28711739 ClinVar
OVOL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28711739 -
DNA2-related mitochondrial DNA deletion syndrome 352470 DNA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Mitochondrial DNA Depletion Syndrome 12 C4321247 SLC25A4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2547778, 8479824, 9207786, 10974536, 15647764, 16155110, 21232697, 22187496, 23401503, 25732997 -