Phosphoribosylpyrophosphate synthetase superactivity
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Phosphoribosylpyrophosphate Synthetase Superactivity | C1970827 | PRPS1 | Causal Pathogenic evidence from ClinVar | 7593598, 8253776, 8498830, 8968763, 10066814, 12847698, 22246954, 23509005, 24896178, 27604308, 28742244 | ClinVar |
| Severe phosphoribosylpyrophosphate synthetase superactivity | 411543 | PRPS1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |