Purine-nucleoside phosphorylase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Purine nucleoside phosphorylase deficiency | 760 | PNP | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Purine-nucleoside phosphorylase deficiency | C0268125 | PNP | Causal Pathogenic evidence from ClinVar | 1384322, 3029074, 8931706, 9067751, 11453975, 22132981, 24767876 | ClinVar |