| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Osteogenesis imperfecta, type 5 | IFITM5 | disease | C2931093 | CausalMutation | 0.8 | orphanet , disgenet |
| Osteogenesis imperfecta, type 5 | IFITM5 | disease | C2931093 | GeneticVariation | 0.8 | orphanet , disgenet |
| Osteogenesis imperfecta, type 5 | IFITM5 | disease | C2931093 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Osteogenesis imperfecta, type 5 | IFITM5 | disease | C2931093 | Biomarker | 0.8 | orphanet , disgenet |
| Osteogenesis imperfecta, type 5 | SUCO | disease | C2931093 | Biomarker | 0.2 | disgenet |
| Osteogenesis imperfecta, type 5 | COL1A1 | disease | C2931093 | AlteredExpression | 0.01 | disgenet |
| Osteogenesis imperfecta, type 5 | SERPINF1 | disease | C2931093 | GeneticVariation | 0.01 | disgenet |
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