Deficiency of butyryl-coa dehydrogenase
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Deficiency of butyryl-CoA dehydrogenase | C0342783 | ACADS | Causal Pathogenic evidence from ClinVar | 1692038, 2808706, 2919115, 9499414, 9582344, 11134486, 12736383, 12872838, 14506246, 14568186, 16546179, 16906473, 16926354, 18054510, 18523805, 18676165, 18951053, 19800078, 20376488, 21170680, 21325261, 21483766, 21500142, 22241096, 22424739, 23798014, 24309898, 24485985, 24816252, 26055667, 26110041, 26274329, 27466294, 27938594, 28018444, 28454995, 28516284, 28532786, 29678161, 30035407 | ClinVar |