| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Kohlschutter Tonz syndrome | ROGDI | disease | C0406740 | GermlineCausalMutation | 0.74 | orphanet , disgenet |
| Kohlschutter Tonz syndrome | ROGDI | disease | C0406740 | Biomarker | 0.74 | orphanet , disgenet |
| Kohlschutter Tonz syndrome | ROGDI | disease | C0406740 | GeneticVariation | 0.74 | orphanet , disgenet |
| Kohlschutter Tonz syndrome | ROGDI | disease | C0406740 | CausalMutation | 0.74 | orphanet , disgenet |
| Kohlschutter Tonz syndrome | SLC13A5 | disease | C0406740 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Kohlschutter Tonz syndrome | SLC13A5 | disease | C0406740 | Biomarker | 0.31 | orphanet , disgenet |
| Kohlschutter Tonz syndrome | ACAD8 | disease | C0406740 | Biomarker | 0.01 | disgenet |
| Kohlschutter Tonz syndrome | AUH | disease | C0406740 | Biomarker | 0.01 | disgenet |
| Kohlschutter Tonz syndrome | DHCR7 | disease | C0406740 | GeneticVariation | 0.01 | disgenet |
| Kohlschutter Tonz syndrome | ACADSB | disease | C0406740 | Biomarker | 0.01 | disgenet |
| Kohlschutter Tonz syndrome | HSD17B10 | disease | C0406740 | GeneticVariation | 0.01 | disgenet |
| Kohlschutter Tonz syndrome | FKBP14 | disease | C0406740 | GeneticVariation | 0.01 | disgenet |
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