Disease Term Disease ID Gene Symbol References
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE C3809443 SLC25A4 27693233, 16155110, 27604308, 25732997, 22187496, 27532257
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT C4310676 SLC25A4 27693233, 27532257
MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) C4225163 OPA1 26561570
MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) C4310690 TFAM 27448789