| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Osteogenesis imperfecta, type 3 | COL1A1 | disease | C0268362 | GermlineCausalMutation | 0.99 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | COL1A1 | disease | C0268362 | Biomarker | 0.99 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | COL1A1 | disease | C0268362 | GeneticVariation | 0.99 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | COL1A1 | disease | C0268362 | CausalMutation | 0.99 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | COL1A2 | disease | C0268362 | CausalMutation | 0.95 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | COL1A2 | disease | C0268362 | GermlineCausalMutation | 0.95 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | COL1A2 | disease | C0268362 | Biomarker | 0.95 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | COL1A2 | disease | C0268362 | GeneticVariation | 0.95 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | SERPINH1 | disease | C0268362 | GermlineCausalMutation | 0.5 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | SERPINH1 | disease | C0268362 | Biomarker | 0.5 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | WNT1 | disease | C0268362 | GermlineCausalMutation | 0.32 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | FKBP10 | disease | C0268362 | GeneticVariation | 0.32 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | WNT1 | disease | C0268362 | GeneticVariation | 0.32 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | FKBP10 | disease | C0268362 | GermlineCausalMutation | 0.32 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | BMP1 | disease | C0268362 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | CRTAP | disease | C0268362 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | CREB3L1 | disease | C0268362 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | SERPINF1 | disease | C0268362 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | PPIB | disease | C0268362 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | P3H1 | disease | C0268362 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | SMPD3 | disease | C0268362 | Biomarker | 0.2 | disgenet |
| Osteogenesis imperfecta, type 3 | MIR29B1 | disease | C0268362 | GeneticVariation | 0.01 | disgenet |
| Osteogenesis imperfecta, type 3 | MIR29B2 | disease | C0268362 | GeneticVariation | 0.01 | disgenet |
| Osteogenesis imperfecta, type 3 | TENT5A | disease | C0268362 | GeneticVariation | 0.01 | orphanet , disgenet |
| Osteogenesis imperfecta, type 3 | DMD | disease | C0268362 | Biomarker | 0.01 | disgenet |
| Osteogenesis imperfecta, type 3 | BEST1 | disease | C0268362 | Biomarker | 0.01 | disgenet |
| Osteogenesis imperfecta, type 3 | PLOD2 | disease | C0268362 | GeneticVariation | 0.01 | disgenet |
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