Cardiomyopathic mitochondrial dna depletion syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) | C4225163 | OPA1 | Causal Pathogenic evidence from ClinVar | 26561570 | ClinVar |
| MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT | C4310676 | SLC25A4 | Causal Pathogenic evidence from ClinVar | 27532257, 27693233 | ClinVar |
| MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE | C3809443 | SLC25A4 | Causal Pathogenic evidence from ClinVar | 16155110, 22187496, 25732997, 27532257, 27604308, 27693233 | ClinVar |
| MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) | C4310690 | TFAM | Causal Pathogenic evidence from ClinVar | 27448789 | ClinVar |