Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type COL2A1 disease C1835437 GermlineCausalMutation 0.73 disgenet
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type COL2A1 disease C1835437 Biomarker 0.73 disgenet
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type COL2A1 disease C1835437 CausalMutation 0.73 disgenet
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type COL2A1 disease C1835437 GeneticVariation 0.73 disgenet
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