| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Osteogenesis imperfecta, type 2A | COL1A1 | disease | C0268358 | Biomarker | 0.89 | orphanet , disgenet |
| Osteogenesis imperfecta, type 2A | COL1A1 | disease | C0268358 | GermlineCausalMutation | 0.89 | orphanet , disgenet |
| Osteogenesis imperfecta, type 2A | COL1A1 | disease | C0268358 | GeneticVariation | 0.89 | orphanet , disgenet |
| Osteogenesis imperfecta, type 2A | COL1A2 | disease | C0268358 | Biomarker | 0.66 | orphanet , disgenet |
| Osteogenesis imperfecta, type 2A | COL1A2 | disease | C0268358 | GeneticVariation | 0.66 | orphanet , disgenet |
| Osteogenesis imperfecta, type 2A | COL1A2 | disease | C0268358 | GermlineCausalMutation | 0.66 | orphanet , disgenet |
| Osteogenesis imperfecta, type 2A | P3H1 | disease | C0268358 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Osteogenesis imperfecta, type 2A | CRTAP | disease | C0268358 | GeneticVariation | 0.31 | orphanet , disgenet |
| Osteogenesis imperfecta, type 2A | P3H1 | disease | C0268358 | GeneticVariation | 0.31 | orphanet , disgenet |
| Osteogenesis imperfecta, type 2A | CRTAP | disease | C0268358 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Osteogenesis imperfecta, type 2A | PPIB | disease | C0268358 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Osteogenesis imperfecta, type 2A | SMPD3 | disease | C0268358 | Biomarker | 0.2 | disgenet |
| Osteogenesis imperfecta, type 2A | IL31RA | disease | C0268358 | GeneticVariation | 0.01 | disgenet |
| Osteogenesis imperfecta, type 2A | COL2A1 | disease | C0268358 | Biomarker | 0.01 | disgenet |
| Osteogenesis imperfecta, type 2A | MESD | NA | C0268358 | NA | NA | orphanet |
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