| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Brittle cornea syndrome 1 | ZNF469 | disease | C0268344 | GeneticVariation | 0.8 | orphanet , disgenet |
| Brittle cornea syndrome 1 | ZNF469 | disease | C0268344 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Brittle cornea syndrome 1 | ZNF469 | disease | C0268344 | CausalMutation | 0.8 | orphanet , disgenet |
| Brittle cornea syndrome 1 | ZNF469 | disease | C0268344 | Biomarker | 0.8 | orphanet , disgenet |
| Brittle cornea syndrome 1 | PRDM5 | disease | C0268344 | GeneticVariation | 0.57 | orphanet , disgenet |
| Brittle cornea syndrome 1 | PRDM5 | disease | C0268344 | Biomarker | 0.57 | orphanet , disgenet |
| Brittle cornea syndrome 1 | PRDM5 | disease | C0268344 | GermlineCausalMutation | 0.57 | orphanet , disgenet |
| Brittle cornea syndrome 1 | PRDM5 | disease | C0268344 | PosttranslationalModification | 0.57 | orphanet , disgenet |
| Brittle cornea syndrome 1 | FN1 | disease | C0268344 | GeneticVariation | 0.01 | disgenet |
| Brittle cornea syndrome 1 | BCS1L | disease | C0268344 | GeneticVariation | 0.01 | disgenet |
| Brittle cornea syndrome 1 | SEC24D | disease | C0268344 | GeneticVariation | 0.01 | disgenet |
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