| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects | NSDHL | disease | C0265267 | Biomarker | 0.78 | orphanet , disgenet |
| Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects | NSDHL | disease | C0265267 | AlteredExpression | 0.78 | orphanet , disgenet |
| Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects | NSDHL | disease | C0265267 | GeneticVariation | 0.78 | orphanet , disgenet |
| Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects | NSDHL | disease | C0265267 | GermlineCausalMutation | 0.78 | orphanet , disgenet |
| Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects | NSDHL | disease | C0265267 | CausalMutation | 0.78 | orphanet , disgenet |
| Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects | HSDL1 | disease | C0265267 | GeneticVariation | 0.05 | disgenet |
| Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects | EBP | disease | C0265267 | Biomarker | 0.03 | disgenet |
| Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects | EBP | disease | C0265267 | GeneticVariation | 0.03 | disgenet |
| Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects | FDFT1 | disease | C0265267 | Biomarker | 0.01 | disgenet |
| Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects | TOR1A | disease | C0265267 | GeneticVariation | 0.01 | disgenet |
| Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects | DHCR7 | disease | C0265267 | GeneticVariation | 0.01 | disgenet |
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