| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Hypotonia-Cystinuria Syndrome | PREPL | disease | C1848030 | ChromosomalRearrangement | 0.68 | orphanet , disgenet |
| Hypotonia-Cystinuria Syndrome | PREPL | disease | C1848030 | Biomarker | 0.68 | orphanet , disgenet |
| Hypotonia-Cystinuria Syndrome | PREPL | disease | C1848030 | GeneticVariation | 0.68 | orphanet , disgenet |
| Hypotonia-Cystinuria Syndrome | SLC3A1 | disease | C1848030 | PosttranslationalModification | 0.57 | orphanet , disgenet |
| Hypotonia-Cystinuria Syndrome | SLC3A1 | disease | C1848030 | GeneticVariation | 0.57 | orphanet , disgenet |
| Hypotonia-Cystinuria Syndrome | SLC3A1 | disease | C1848030 | ChromosomalRearrangement | 0.57 | orphanet , disgenet |
| Hypotonia-Cystinuria Syndrome | SLC3A1 | disease | C1848030 | Biomarker | 0.57 | orphanet , disgenet |
| Hypotonia-Cystinuria Syndrome | CAMKMT | disease | C1848030 | GeneticVariation | 0.52 | orphanet , disgenet |
| Hypotonia-Cystinuria Syndrome | CAMKMT | disease | C1848030 | Biomarker | 0.52 | orphanet , disgenet |
| Hypotonia-Cystinuria Syndrome | PPM1B | disease | C1848030 | GeneticVariation | 0.32 | disgenet |
| Hypotonia-Cystinuria Syndrome | PPM1B | disease | C1848030 | Biomarker | 0.32 | disgenet |
| Hypotonia-Cystinuria Syndrome | CYCS | disease | C1848030 | GeneticVariation | 0.01 | disgenet |
| Hypotonia-Cystinuria Syndrome | HLCS | disease | C1848030 | GeneticVariation | 0.01 | disgenet |
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