| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency | HMGCS2 | disease | C2751532 | GermlineCausalMutation | 0.71 | orphanet , disgenet |
| 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency | HMGCS2 | disease | C2751532 | CausalMutation | 0.71 | orphanet , disgenet |
| 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency | HMGCS2 | disease | C2751532 | GeneticVariation | 0.71 | orphanet , disgenet |
| 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency | HMGCS2 | disease | C2751532 | Biomarker | 0.71 | orphanet , disgenet |
| 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency | ACAD8 | disease | C2751532 | Biomarker | 0.01 | disgenet |
| 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency | AUH | disease | C2751532 | Biomarker | 0.01 | disgenet |
| 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency | ACADSB | disease | C2751532 | Biomarker | 0.01 | disgenet |
| 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency | DHCR7 | disease | C2751532 | GeneticVariation | 0.01 | disgenet |
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