| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Beta-Hydroxyisobutyryl CoA Deacylase Deficiency | HIBCH | disease | C0342738 | GermlineCausalMutation | 0.71 | orphanet , disgenet |
| Beta-Hydroxyisobutyryl CoA Deacylase Deficiency | HIBCH | disease | C0342738 | GeneticVariation | 0.71 | orphanet , disgenet |
| Beta-Hydroxyisobutyryl CoA Deacylase Deficiency | HIBCH | disease | C0342738 | Biomarker | 0.71 | orphanet , disgenet |
| Beta-Hydroxyisobutyryl CoA Deacylase Deficiency | ECHS1 | disease | C0342738 | Biomarker | 0.01 | disgenet |
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