| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Craniodiaphyseal Dysplasia | SOST | disease | C0410539 | Biomarker | 0.33 | orphanet , disgenet |
| Craniodiaphyseal Dysplasia | SOST | disease | C0410539 | GeneticVariation | 0.33 | orphanet , disgenet |
| Craniodiaphyseal Dysplasia | SOST | disease | C0410539 | GermlineCausalMutation | 0.33 | orphanet , disgenet |
| Craniodiaphyseal Dysplasia | CDKL5 | disease | C0410539 | Biomarker | 0.1 | disgenet |
| Craniodiaphyseal Dysplasia | CDKL5 | disease | C0410539 | GeneticVariation | 0.1 | disgenet |
| Craniodiaphyseal Dysplasia | CXCL8 | disease | C0410539 | Biomarker | 0.01 | disgenet |
| Craniodiaphyseal Dysplasia | GRIA2 | disease | C0410539 | AlteredExpression | 0.01 | disgenet |
| Craniodiaphyseal Dysplasia | CDA | disease | C0410539 | Biomarker | 0.01 | disgenet |
| Craniodiaphyseal Dysplasia | CLIP1 | disease | C0410539 | Biomarker | 0.01 | disgenet |
| Craniodiaphyseal Dysplasia | NPPA | disease | C0410539 | Biomarker | 0.01 | disgenet |
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