| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Biotinidase Deficiencies | BTD | disease | C0220754 | CausalMutation | 1 | orphanet , disgenet |
| Biotinidase Deficiencies | BTD | disease | C0220754 | GeneticVariation | 1 | orphanet , disgenet |
| Biotinidase Deficiencies | BTD | disease | C0220754 | AlteredExpression | 1 | orphanet , disgenet |
| Biotinidase Deficiencies | BTD | disease | C0220754 | Biomarker | 1 | orphanet , disgenet |
| Biotinidase Deficiencies | ACY1 | disease | C0220754 | Biomarker | 0.01 | disgenet |
| Biotinidase Deficiencies | HLCS | disease | C0220754 | AlteredExpression | 0.01 | disgenet |
| Biotinidase Deficiencies | CHML | disease | C0220754 | GeneticVariation | 0.01 | disgenet |
| Biotinidase Deficiencies | NME1 | disease | C0220754 | Biomarker | 0.01 | disgenet |
| Biotinidase Deficiencies | NBN | disease | C0220754 | Biomarker | 0.01 | disgenet |
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