Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Osteoporosis-pseudoglioma syndrome LRP5 disease C0432252 Biomarker 1 orphanet , disgenet
Osteoporosis-pseudoglioma syndrome LRP5 disease C0432252 GeneticVariation 1 orphanet , disgenet
Osteoporosis-pseudoglioma syndrome LRP5 disease C0432252 GermlineCausalMutation 1 orphanet , disgenet
Osteoporosis-pseudoglioma syndrome LRP5 disease C0432252 CausalMutation 1 orphanet , disgenet
Osteoporosis-pseudoglioma syndrome LRP6 disease C0432252 Biomarker 0.02 disgenet
Osteoporosis-pseudoglioma syndrome SOST disease C0432252 Biomarker 0.02 disgenet
Osteoporosis-pseudoglioma syndrome INPPL1 disease C0432252 GeneticVariation 0.02 disgenet
Osteoporosis-pseudoglioma syndrome FN1 disease C0432252 Biomarker 0.01 disgenet
Osteoporosis-pseudoglioma syndrome LDLR disease C0432252 GeneticVariation 0.01 disgenet
Osteoporosis-pseudoglioma syndrome DDX53 disease C0432252 Biomarker 0.01 disgenet
Osteoporosis-pseudoglioma syndrome FGF19 disease C0432252 Biomarker 0.01 disgenet
Osteoporosis-pseudoglioma syndrome TSPAN12 disease C0432252 GeneticVariation 0.01 disgenet
Osteoporosis-pseudoglioma syndrome GSTP1 disease C0432252 GeneticVariation 0.01 disgenet
Osteoporosis-pseudoglioma syndrome PTH disease C0432252 Biomarker 0.01 disgenet
Osteoporosis-pseudoglioma syndrome TCIRG1 disease C0432252 GeneticVariation 0.01 disgenet
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