| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Finnish lethal neonatal metabolic syndrome | BCS1L | disease | C1864002 | GeneticVariation | 0.77 | orphanet , disgenet |
| Finnish lethal neonatal metabolic syndrome | BCS1L | disease | C1864002 | GermlineCausalMutation | 0.77 | orphanet , disgenet |
| Finnish lethal neonatal metabolic syndrome | BCS1L | disease | C1864002 | CausalMutation | 0.77 | orphanet , disgenet |
| Finnish lethal neonatal metabolic syndrome | BCS1L | disease | C1864002 | Biomarker | 0.77 | orphanet , disgenet |
| Finnish lethal neonatal metabolic syndrome | ABCB6 | disease | C1864002 | Biomarker | 0.01 | disgenet |
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