Mitochondrial pyruvate carrier deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Mitochondrial pyruvate carrier deficiency | 447784 | MPC1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY | C3553607 | MPC1 | Causal Pathogenic evidence from ClinVar | 22628558, 27835892 | ClinVar |