Deficiency of acetyl-coa acetyltransferase
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Deficiency of acetyl-CoA acetyltransferase | C1536500 | ACAT1 | Causal Pathogenic evidence from ClinVar | 36452, 1346617, 1627655, 1715688, 2893809, 7728148, 7749408, 7907600, 8103405, 9744475, 11161836, 11914035, 15128923, 17236799, 20046049, 20156697, 21669895, 23430882, 24309898, 24517888, 27264805, 27748876, 28220263, 28689740, 28726122, 31268215 | ClinVar |