| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Keratoderma palmoplantar, with deafness | GJB2 | disease | C1835672 | Biomarker | 0.73 | orphanet , disgenet |
| Keratoderma palmoplantar, with deafness | GJB2 | disease | C1835672 | GeneticVariation | 0.73 | orphanet , disgenet |
| Keratoderma palmoplantar, with deafness | GJB2 | disease | C1835672 | CausalMutation | 0.73 | orphanet , disgenet |
| Keratoderma palmoplantar, with deafness | GJB2 | disease | C1835672 | GermlineCausalMutation | 0.73 | orphanet , disgenet |
| Keratoderma palmoplantar, with deafness | TRNS1 | disease | C1835672 | GermlineCausalMutation | 0.3 | disgenet |
| Keratoderma palmoplantar, with deafness | COX1 | disease | C1835672 | CausalMutation | 0.1 | disgenet |
| Keratoderma palmoplantar, with deafness | MT-TS1 | NA | C1835672 | NA | NA | orphanet |
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