| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Holocarboxylase Synthetase Deficiencies | HLCS | disease | C0268581 | GeneticVariation | 0.8 | orphanet , disgenet |
| Holocarboxylase Synthetase Deficiencies | HLCS | disease | C0268581 | AlteredExpression | 0.8 | orphanet , disgenet |
| Holocarboxylase Synthetase Deficiencies | HLCS | disease | C0268581 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Holocarboxylase Synthetase Deficiencies | HLCS | disease | C0268581 | Biomarker | 0.8 | orphanet , disgenet |
| Holocarboxylase Synthetase Deficiencies | HLCS | disease | C0268581 | CausalMutation | 0.8 | orphanet , disgenet |
| Holocarboxylase Synthetase Deficiencies | BTD | disease | C0268581 | AlteredExpression | 0.05 | disgenet |
| Holocarboxylase Synthetase Deficiencies | BTD | disease | C0268581 | Biomarker | 0.05 | disgenet |
| Holocarboxylase Synthetase Deficiencies | PC | disease | C0268581 | Biomarker | 0.01 | disgenet |
| Holocarboxylase Synthetase Deficiencies | ATP6 | disease | C0268581 | GeneticVariation | 0.01 | disgenet |
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