| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Hereditary macular coloboma | NMNAT1 | disease | C1852767 | Biomarker | 0.4 | disgenet |
| Hereditary macular coloboma | FZD5 | disease | C1852767 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Hereditary macular coloboma | SALL2 | disease | C1852767 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Hereditary macular coloboma | ABCB6 | disease | C1852767 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Hereditary macular coloboma | PAX6 | disease | C1852767 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Hereditary macular coloboma | CLDN19 | disease | C1852767 | Biomarker | 0.1 | disgenet |
| Hereditary macular coloboma | PRPS1 | disease | C1852767 | Biomarker | 0.1 | disgenet |
| Hereditary macular coloboma | NOD2 | disease | C1852767 | GeneticVariation | 0.01 | disgenet |
| Hereditary macular coloboma | FZD4 | disease | C1852767 | GeneticVariation | 0.01 | disgenet |
| Hereditary macular coloboma | LCA5 | disease | C1852767 | GeneticVariation | 0.01 | disgenet |
| Hereditary macular coloboma | DHX38 | disease | C1852767 | GeneticVariation | 0.01 | disgenet |
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