| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Cerebrooculofacioskeletal Syndrome 1 | ERCC6 | disease | C0220722 | CausalMutation | 0.74 | orphanet , disgenet |
| Cerebrooculofacioskeletal Syndrome 1 | ERCC6 | disease | C0220722 | Biomarker | 0.74 | orphanet , disgenet |
| Cerebrooculofacioskeletal Syndrome 1 | ERCC6 | disease | C0220722 | GeneticVariation | 0.74 | orphanet , disgenet |
| Cerebrooculofacioskeletal Syndrome 1 | ERCC2 | disease | C0220722 | GermlineCausalMutation | 0.43 | orphanet , disgenet |
| Cerebrooculofacioskeletal Syndrome 1 | ERCC2 | disease | C0220722 | CausalMutation | 0.43 | orphanet , disgenet |
| Cerebrooculofacioskeletal Syndrome 1 | ERCC2 | disease | C0220722 | GeneticVariation | 0.43 | orphanet , disgenet |
| Cerebrooculofacioskeletal Syndrome 1 | ERCC1 | disease | C0220722 | Biomarker | 0.32 | orphanet , disgenet |
| Cerebrooculofacioskeletal Syndrome 1 | ERCC5 | disease | C0220722 | GermlineCausalMutation | 0.32 | orphanet , disgenet |
| Cerebrooculofacioskeletal Syndrome 1 | ERCC1 | disease | C0220722 | GermlineCausalMutation | 0.32 | orphanet , disgenet |
| Cerebrooculofacioskeletal Syndrome 1 | ERCC1 | disease | C0220722 | GeneticVariation | 0.32 | orphanet , disgenet |
| Cerebrooculofacioskeletal Syndrome 1 | ERCC5 | disease | C0220722 | GeneticVariation | 0.32 | orphanet , disgenet |
| Cerebrooculofacioskeletal Syndrome 1 | CSH2 | disease | C0220722 | GeneticVariation | 0.02 | disgenet |
| Cerebrooculofacioskeletal Syndrome 1 | CSH1 | disease | C0220722 | GeneticVariation | 0.02 | disgenet |
| Cerebrooculofacioskeletal Syndrome 1 | ERCC3 | disease | C0220722 | GeneticVariation | 0.01 | disgenet |
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