| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | ACTB | disease | C1855722 | Biomarker | 0.72 | orphanet , disgenet |
| Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | ACTB | disease | C1855722 | CausalMutation | 0.72 | orphanet , disgenet |
| Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | ACTB | disease | C1855722 | GeneticVariation | 0.72 | orphanet , disgenet |
| Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | ACTB | disease | C1855722 | GermlineCausalMutation | 0.72 | orphanet , disgenet |
| Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | ACTG1 | disease | C1855722 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | SLC9A6 | disease | C1855722 | GeneticVariation | 0.01 | disgenet |
| Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | ASPM | disease | C1855722 | GeneticVariation | 0.01 | disgenet |
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