Aminoacylase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Aminoacylase 1 deficiency | C1835922 | ACY1 | Causal Pathogenic evidence from ClinVar | 16274666, 16465618, 17562838, 21414403 | ClinVar |
| ABHD14A-ACY1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| Aminoacylase 2 Deficiency | C3542499 | ASPA | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 17027983, 17194761 | - |