| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Craniofrontonasal dysplasia | EFNB1 | disease | C0220767 | CausalMutation | 1 | orphanet , disgenet |
| Craniofrontonasal dysplasia | EFNB1 | disease | C0220767 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Craniofrontonasal dysplasia | EFNB1 | disease | C0220767 | Biomarker | 1 | orphanet , disgenet |
| Craniofrontonasal dysplasia | EFNB1 | disease | C0220767 | GeneticVariation | 1 | orphanet , disgenet |
| Craniofrontonasal dysplasia | EFNB1 | disease | C0220767 | AlteredExpression | 1 | orphanet , disgenet |
| Craniofrontonasal dysplasia | PJA1 | disease | C0220767 | Biomarker | 0.3 | disgenet |
| Craniofrontonasal dysplasia | EPHA1 | disease | C0220767 | GeneticVariation | 0.03 | disgenet |
| Craniofrontonasal dysplasia | ALX3 | disease | C0220767 | Biomarker | 0.02 | disgenet |
| Craniofrontonasal dysplasia | ALX4 | disease | C0220767 | Biomarker | 0.01 | disgenet |
| Craniofrontonasal dysplasia | EDA | disease | C0220767 | Biomarker | 0.01 | disgenet |
| Craniofrontonasal dysplasia | ALX1 | disease | C0220767 | Biomarker | 0.01 | disgenet |
| Craniofrontonasal dysplasia | EFNA4 | disease | C0220767 | GeneticVariation | 0.01 | disgenet |
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