Citrullinemia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| ACUTE NEONATAL CITRULLINEMIA TYPE I | ASS1 | Unknown | GWAS catalog | ||
| ADULT-ONSET CITRULLINEMIA TYPE I | ASS1 | Unknown | GWAS catalog | ||
| CITRULLINEMIA | ASS1 | Causal | — | CTD Disgenet | |
| SLC25A13 | Causal | — | Disgenet | ||
| SLC25A15 | Unknown | — | Disgenet | ||
| CITRULLINEMIA TYPE 1 | ASS1 | Unknown | — | Disgenet | |
| SLC25A13 | Unknown | — | Disgenet | ||
| CITRULLINEMIA TYPE I | ASS1 | Causal | — | ClinGen ClinVar GenCC | |
| CITRULLINEMIA TYPE II | SLC25A13 | Causal | ClinVar Disgenet Orphanet | ||
| CITRULLINEMIA, CLASSIC | ASS1 | Unknown | — | HPO | |
| CITRULLINEMIA, TYPE II, ADULT-ONSET | SLC25A13 | Causal | ClinVar Disgenet | ||
| CITRULLINEMIA, TYPE II, NEONATAL-ONSET | SLC25A13 | Unknown | — | Disgenet |