Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Chondrodysplasia, blomstrand type PTH1R disease C1859148 GermlineCausalMutation 0.71 disgenet
Chondrodysplasia, blomstrand type PTH1R disease C1859148 AlteredExpression 0.71 disgenet
Chondrodysplasia, blomstrand type PTH1R disease C1859148 CausalMutation 0.71 disgenet
Chondrodysplasia, blomstrand type PTH1R disease C1859148 Biomarker 0.71 disgenet
Chondrodysplasia, blomstrand type PTH1R disease C1859148 GeneticVariation 0.71 disgenet
Chondrodysplasia, blomstrand type PTH disease C1859148 GeneticVariation 0.02 disgenet
Chondrodysplasia, blomstrand type PTHLH disease C1859148 GeneticVariation 0.01 disgenet
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