| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Keratitis-Ichthyosis-Deafness Syndrome | GJB2 | disease | C3665333 | Biomarker | 0.6 | orphanet , disgenet |
| Keratitis-Ichthyosis-Deafness Syndrome | GJB2 | disease | C3665333 | GermlineCausalMutation | 0.6 | orphanet , disgenet |
| Keratitis-Ichthyosis-Deafness Syndrome | GJB2 | disease | C3665333 | GeneticVariation | 0.6 | orphanet , disgenet |
| Keratitis-Ichthyosis-Deafness Syndrome | GJB6 | disease | C3665333 | Biomarker | 0.32 | orphanet , disgenet |
| Keratitis-Ichthyosis-Deafness Syndrome | GJB6 | disease | C3665333 | GermlineCausalMutation | 0.32 | orphanet , disgenet |
| Keratitis-Ichthyosis-Deafness Syndrome | GJB6 | disease | C3665333 | GeneticVariation | 0.32 | orphanet , disgenet |
| Keratitis-Ichthyosis-Deafness Syndrome | KIF22 | disease | C3665333 | Biomarker | 0.02 | disgenet |
| Keratitis-Ichthyosis-Deafness Syndrome | AQP6 | disease | C3665333 | Biomarker | 0.02 | disgenet |
| Keratitis-Ichthyosis-Deafness Syndrome | GJA1 | disease | C3665333 | GeneticVariation | 0.01 | disgenet |
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