| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Pycnodysostoses | CTSK | disease | C0238402 | CausalMutation | 0.8 | orphanet , disgenet |
| Pycnodysostoses | CTSK | disease | C0238402 | GeneticVariation | 0.8 | orphanet , disgenet |
| Pycnodysostoses | CTSK | disease | C0238402 | Biomarker | 0.8 | orphanet , disgenet |
| Pycnodysostoses | CTSK | disease | C0238402 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Pycnodysostoses | CTSK | disease | C0238402 | AlteredExpression | 0.8 | orphanet , disgenet |
| Pycnodysostoses | IL6R | disease | C0238402 | Biomarker | 0.02 | disgenet |
| Pycnodysostoses | GH1 | disease | C0238402 | Biomarker | 0.02 | disgenet |
| Pycnodysostoses | NT5E | disease | C0238402 | Biomarker | 0.01 | disgenet |
| Pycnodysostoses | PTH | disease | C0238402 | Biomarker | 0.01 | disgenet |
| Pycnodysostoses | MCL1 | disease | C0238402 | Biomarker | 0.01 | disgenet |
| Pycnodysostoses | IGF1 | disease | C0238402 | Biomarker | 0.01 | disgenet |
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