Mitochondrial dna depletion syndrome, hepatocerebral
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) | C3151513 | DGUOK | Causal Pathogenic evidence from ClinVar | 9175742, 11687800, 12205643, 15639197, 15883261, 17538929, 27604308 | ClinVar |
| Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | 279934 | DGUOK | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Mitochondrial DNA depletion syndrome, hepatocerebrorenal form | 363534 | TWNK | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |