| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | HMGCL | disease | C0268601 | Biomarker | 0.78 | orphanet , disgenet |
| 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | HMGCL | disease | C0268601 | CausalMutation | 0.78 | orphanet , disgenet |
| 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | HMGCL | disease | C0268601 | GeneticVariation | 0.78 | orphanet , disgenet |
| 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | HMGCL | disease | C0268601 | GermlineCausalMutation | 0.78 | orphanet , disgenet |
| 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | CETP | disease | C0268601 | Biomarker | 0.01 | disgenet |
| 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | OTC | disease | C0268601 | Biomarker | 0.01 | disgenet |
| 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | LINC01672 | disease | C0268601 | Biomarker | 0.01 | disgenet |
| 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | LDLR | disease | C0268601 | AlteredExpression | 0.01 | disgenet |
| 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | APOB | disease | C0268601 | Biomarker | 0.01 | disgenet |
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