Hyperlysinemia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Hyperlysinemia | 2203 | AASS | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Hyperlysinemia, type I | C0543533 | AASS | Causal Pathogenic evidence from ClinVar | 10775527, 27604308 | ClinVar |
| Hyperlysinemias | C0268553 | AASS | Causal Pathogenic evidence from ClinVar | 4385118, 10775527, 23570448, 23890588, 27604308, 27626380 | ClinVar |
| NADK2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| SLC25A13 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |