| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Histidinemia | HAL | phenotype | C0220992 | GermlineCausalMutation | 0.73 | orphanet , disgenet |
| Histidinemia | HAL | phenotype | C0220992 | AlteredExpression | 0.73 | orphanet , disgenet |
| Histidinemia | HAL | phenotype | C0220992 | GeneticVariation | 0.73 | orphanet , disgenet |
| Histidinemia | HAL | phenotype | C0220992 | Biomarker | 0.73 | orphanet , disgenet |
| Histidinemia | F11 | phenotype | C0220992 | GeneticVariation | 0.01 | disgenet |
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