Mitochondrial trifunctional protein deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Mitochondrial trifunctional protein deficiency | 746 | HADHA | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| HADHB | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| Trifunctional Protein Deficiency With Myopathy And Neuropathy | C1969443 | HADHA | Causal Pathogenic evidence from ClinVar | 7738175, 7811722, 8770876, 8865274, 9739053, 10352164, 11855930, 12442268, 12809642, 12971428, 14630990, 15902556, 19433283, 20583174, 21103935, 21549624, 22065858, 22459206, 23868323, 25929793, 26109258, 27491397, 27604308 | ClinVar |
| HADHB | Causal Pathogenic evidence from ClinVar | 8651282, 9259266, 12754706, 17116638, 19699128, 21549624, 25929793, 27604308 | ClinVar |