| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Hyperphenylalaninemia, BH4-Deficient, B | GCH1 | disease | C0268467 | GeneticVariation | 0.75 | orphanet , disgenet |
| Hyperphenylalaninemia, BH4-Deficient, B | GCH1 | disease | C0268467 | CausalMutation | 0.75 | orphanet , disgenet |
| Hyperphenylalaninemia, BH4-Deficient, B | GCH1 | disease | C0268467 | Biomarker | 0.75 | orphanet , disgenet |
| Hyperphenylalaninemia, BH4-Deficient, B | GCH1 | disease | C0268467 | GermlineCausalMutation | 0.75 | orphanet , disgenet |
| Hyperphenylalaninemia, BH4-Deficient, B | NIF3L1 | disease | C0268467 | GeneticVariation | 0.03 | disgenet |
| Hyperphenylalaninemia, BH4-Deficient, B | TH | disease | C0268467 | Biomarker | 0.01 | disgenet |
| Hyperphenylalaninemia, BH4-Deficient, B | SPR | disease | C0268467 | Biomarker | 0.01 | disgenet |
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