| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Congenital Cortical Hyperostoses | COL1A1 | disease | C0020497 | CausalMutation | 0.77 | orphanet , disgenet |
| Congenital Cortical Hyperostoses | COL1A1 | disease | C0020497 | GeneticVariation | 0.77 | orphanet , disgenet |
| Congenital Cortical Hyperostoses | COL1A1 | disease | C0020497 | Biomarker | 0.77 | orphanet , disgenet |
| Congenital Cortical Hyperostoses | A4GALT | disease | C0020497 | CausalMutation | 0.1 | disgenet |
| Congenital Cortical Hyperostoses | SLC37A2 | disease | C0020497 | Biomarker | 0.01 | disgenet |
| Congenital Cortical Hyperostoses | AHSG | disease | C0020497 | GeneticVariation | 0.01 | disgenet |
| Congenital Cortical Hyperostoses | COL1A2 | disease | C0020497 | Biomarker | 0.01 | disgenet |
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