| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Dermal Hypoplasias, Focal | PORCN | disease | C0016395 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Dermal Hypoplasias, Focal | PORCN | disease | C0016395 | CausalMutation | 1 | orphanet , disgenet |
| Dermal Hypoplasias, Focal | PORCN | disease | C0016395 | GeneticVariation | 1 | orphanet , disgenet |
| Dermal Hypoplasias, Focal | PORCN | disease | C0016395 | Biomarker | 1 | orphanet , disgenet |
| Dermal Hypoplasias, Focal | PORCN | disease | C0016395 | AlteredExpression | 1 | orphanet , disgenet |
| Dermal Hypoplasias, Focal | ALB | disease | C0016395 | GeneticVariation | 0.02 | disgenet |
| Dermal Hypoplasias, Focal | GC | disease | C0016395 | GeneticVariation | 0.01 | disgenet |
| Dermal Hypoplasias, Focal | WNT3A | disease | C0016395 | Biomarker | 0.01 | disgenet |
| Dermal Hypoplasias, Focal | HCCS | disease | C0016395 | GeneticVariation | 0.01 | disgenet |
| Dermal Hypoplasias, Focal | CYP26C1 | NA | C0016395 | NA | NA | orphanet |
| Dermal Hypoplasias, Focal | TWIST2 | NA | C0016395 | NA | NA | orphanet |
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