| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | SNAP29 | disease | C1836033 | GermlineCausalMutation | 0.95 | orphanet , disgenet |
| Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | SNAP29 | disease | C1836033 | Biomarker | 0.95 | orphanet , disgenet |
| Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | SNAP29 | disease | C1836033 | GeneticVariation | 0.95 | orphanet , disgenet |
| Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | SNAP29 | disease | C1836033 | CausalMutation | 0.95 | orphanet , disgenet |
| Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | PI4KA | disease | C1836033 | GeneticVariation | 0.1 | disgenet |
| Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | PI4KA | disease | C1836033 | CausalMutation | 0.1 | disgenet |
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