| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Erythrokeratodermia Variabilis 3 | AP1S1 | disease | C1836330 | GermlineCausalMutation | 0.75 | orphanet , disgenet |
| Erythrokeratodermia Variabilis 3 | AP1S1 | disease | C1836330 | GeneticVariation | 0.75 | orphanet , disgenet |
| Erythrokeratodermia Variabilis 3 | AP1S1 | disease | C1836330 | CausalMutation | 0.75 | orphanet , disgenet |
| Erythrokeratodermia Variabilis 3 | AP1S1 | disease | C1836330 | Biomarker | 0.75 | orphanet , disgenet |
| Erythrokeratodermia Variabilis 3 | ATP7A | disease | C1836330 | Biomarker | 0.01 | disgenet |
| Erythrokeratodermia Variabilis 3 | CCS | disease | C1836330 | GeneticVariation | 0.01 | disgenet |
| Erythrokeratodermia Variabilis 3 | AP1B1 | NA | C1836330 | NA | NA | orphanet |
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