Hyperprolinemia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Hyperprolinemia | C0268528 | ALDH4A1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| PRODH | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| SLC7A7 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| Hyperprolinemia type 2 | 79101, C2931835 | ALDH4A1 | Causal Pathogenic evidence from ClinVar | 4369405, 9700195, 13835167, 22516612, 25641190, 27604308 | ClinVar |
| Hyperprolinemia type 1 | 419 | PRODH | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |