| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Keratitis, Ichthyosis, and Deafness (KID) Syndrome | GJB2 | disease | C0265336 | AlteredExpression | 1 | orphanet , disgenet |
| Keratitis, Ichthyosis, and Deafness (KID) Syndrome | GJB2 | disease | C0265336 | Biomarker | 1 | orphanet , disgenet |
| Keratitis, Ichthyosis, and Deafness (KID) Syndrome | GJB2 | disease | C0265336 | GeneticVariation | 1 | orphanet , disgenet |
| Keratitis, Ichthyosis, and Deafness (KID) Syndrome | GJB2 | disease | C0265336 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Keratitis, Ichthyosis, and Deafness (KID) Syndrome | GJB2 | disease | C0265336 | CausalMutation | 1 | orphanet , disgenet |
| Keratitis, Ichthyosis, and Deafness (KID) Syndrome | GJB6 | disease | C0265336 | GeneticVariation | 0.32 | orphanet , disgenet |
| Keratitis, Ichthyosis, and Deafness (KID) Syndrome | GJB6 | disease | C0265336 | GermlineCausalMutation | 0.32 | orphanet , disgenet |
| Keratitis, Ichthyosis, and Deafness (KID) Syndrome | GJB6 | disease | C0265336 | Biomarker | 0.32 | orphanet , disgenet |
| Keratitis, Ichthyosis, and Deafness (KID) Syndrome | KIF22 | disease | C0265336 | Biomarker | 0.01 | disgenet |
| Keratitis, Ichthyosis, and Deafness (KID) Syndrome | AQP6 | disease | C0265336 | Biomarker | 0.01 | disgenet |
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