| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Hyperphenylalaninemia with primapterinuria | PCBD1 | disease | C1849700 | CausalMutation | 0.71 | disgenet |
| Hyperphenylalaninemia with primapterinuria | PCBD1 | disease | C1849700 | Biomarker | 0.71 | disgenet |
| Hyperphenylalaninemia with primapterinuria | PCBD1 | disease | C1849700 | GermlineCausalMutation | 0.71 | disgenet |
| Hyperphenylalaninemia with primapterinuria | PCBD1 | disease | C1849700 | GeneticVariation | 0.71 | disgenet |
| click here to return to the previous page | ||||||