Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Osteogenesis imperfecta, Levin type ANO5 disease C1833736 GeneticVariation 0.8 orphanet , disgenet
Osteogenesis imperfecta, Levin type ANO5 disease C1833736 GermlineCausalMutation 0.8 orphanet , disgenet
Osteogenesis imperfecta, Levin type ANO5 disease C1833736 CausalMutation 0.8 orphanet , disgenet
Osteogenesis imperfecta, Levin type ANO5 disease C1833736 Biomarker 0.8 orphanet , disgenet
Osteogenesis imperfecta, Levin type HTC2 disease C1833736 Biomarker 0.02 disgenet
Osteogenesis imperfecta, Levin type COL1A1 disease C1833736 GeneticVariation 0.01 disgenet
Osteogenesis imperfecta, Levin type GNB1 disease C1833736 GeneticVariation 0.01 disgenet
Osteogenesis imperfecta, Levin type DNAJC12 disease C1833736 Biomarker 0.01 disgenet
Osteogenesis imperfecta, Levin type FOXP1 disease C1833736 GeneticVariation 0.01 disgenet
Osteogenesis imperfecta, Levin type DHX30 disease C1833736 GeneticVariation 0.01 disgenet
Osteogenesis imperfecta, Levin type COASY disease C1833736 GeneticVariation 0.01 disgenet
Osteogenesis imperfecta, Levin type ANO1 disease C1833736 GeneticVariation 0.01 disgenet
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