Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Terminal Osseous Dysplasia and Pigmentary Defects | FLNA | disease | C1846129 | GeneticVariation | 0.61 | orphanet , disgenet |
Terminal Osseous Dysplasia and Pigmentary Defects | FLNA | disease | C1846129 | Biomarker | 0.61 | orphanet , disgenet |
Terminal Osseous Dysplasia and Pigmentary Defects | FLNA | disease | C1846129 | GermlineCausalMutation | 0.61 | orphanet , disgenet |
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