Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Osteogenesis imperfecta, type 4 COL1A1 disease C0268363 CausalMutation 0.97 orphanet , disgenet
Osteogenesis imperfecta, type 4 COL1A1 disease C0268363 GeneticVariation 0.97 orphanet , disgenet
Osteogenesis imperfecta, type 4 COL1A1 disease C0268363 GermlineCausalMutation 0.97 orphanet , disgenet
Osteogenesis imperfecta, type 4 COL1A1 disease C0268363 Biomarker 0.97 orphanet , disgenet
Osteogenesis imperfecta, type 4 COL1A2 disease C0268363 Biomarker 0.8 orphanet , disgenet
Osteogenesis imperfecta, type 4 COL1A2 disease C0268363 GermlineCausalMutation 0.8 orphanet , disgenet
Osteogenesis imperfecta, type 4 COL1A2 disease C0268363 GeneticVariation 0.8 orphanet , disgenet
Osteogenesis imperfecta, type 4 COL1A2 disease C0268363 CausalMutation 0.8 orphanet , disgenet
Osteogenesis imperfecta, type 4 WNT1 disease C0268363 GermlineCausalMutation 0.31 orphanet , disgenet
Osteogenesis imperfecta, type 4 WNT1 disease C0268363 GeneticVariation 0.31 orphanet , disgenet
Osteogenesis imperfecta, type 4 SPARC disease C0268363 GermlineCausalMutation 0.3 orphanet , disgenet
Osteogenesis imperfecta, type 4 PPIB disease C0268363 GermlineCausalMutation 0.3 orphanet , disgenet
Osteogenesis imperfecta, type 4 FKBP10 disease C0268363 GermlineCausalMutation 0.3 orphanet , disgenet
Osteogenesis imperfecta, type 4 SERPINF1 disease C0268363 GermlineCausalMutation 0.3 orphanet , disgenet
Osteogenesis imperfecta, type 4 TMEM38B disease C0268363 GermlineCausalMutation 0.3 orphanet , disgenet
Osteogenesis imperfecta, type 4 CRTAP disease C0268363 GermlineCausalMutation 0.3 orphanet , disgenet
Osteogenesis imperfecta, type 4 SP7 disease C0268363 GermlineCausalMutation 0.3 orphanet , disgenet
Osteogenesis imperfecta, type 4 IFITM5 disease C0268363 GeneticVariation 0.01 disgenet
Osteogenesis imperfecta, type 4 LRP5 disease C0268363 GeneticVariation 0.01 disgenet
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