| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Beta ketothiolase deficiency | ACAT1 | disease | C1536500 | GeneticVariation | 0.8 | orphanet , disgenet |
| Beta ketothiolase deficiency | ACAT1 | disease | C1536500 | CausalMutation | 0.8 | orphanet , disgenet |
| Beta ketothiolase deficiency | ACAT1 | disease | C1536500 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Beta ketothiolase deficiency | ACAT1 | disease | C1536500 | Biomarker | 0.8 | orphanet , disgenet |
| Beta ketothiolase deficiency | ACAA2 | disease | C1536500 | Biomarker | 0.04 | disgenet |
| Beta ketothiolase deficiency | HADHB | disease | C1536500 | Biomarker | 0.04 | disgenet |
| Beta ketothiolase deficiency | ACAA1 | disease | C1536500 | Biomarker | 0.04 | disgenet |
| Beta ketothiolase deficiency | CBS | disease | C1536500 | Biomarker | 0.01 | disgenet |
| Beta ketothiolase deficiency | ACAT2 | disease | C1536500 | GeneticVariation | 0.01 | disgenet |
| Beta ketothiolase deficiency | OXCT1 | disease | C1536500 | Biomarker | 0.01 | disgenet |
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