Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Osteochondromatoses EXT1 disease C0206641 Biomarker 0.1 orphanet , disgenet
Osteochondromatoses EXT1 disease C0206641 GeneticVariation 0.1 orphanet , disgenet
Osteochondromatoses EXT2 disease C0206641 GeneticVariation 0.1 orphanet , disgenet
Osteochondromatoses EXT2 disease C0206641 Biomarker 0.1 orphanet , disgenet
Osteochondromatoses MMP12 disease C0206641 GeneticVariation 0.02 disgenet
Osteochondromatoses MMP12 disease C0206641 Biomarker 0.02 disgenet
Osteochondromatoses SLC35B2 disease C0206641 Biomarker 0.01 disgenet
Osteochondromatoses UXS1 disease C0206641 Biomarker 0.01 disgenet
Osteochondromatoses HSPG2 disease C0206641 Biomarker 0.01 disgenet
Osteochondromatoses SDC2 disease C0206641 Biomarker 0.01 disgenet
Osteochondromatoses GPC4 disease C0206641 Biomarker 0.01 disgenet
Osteochondromatoses SAMD12 disease C0206641 GeneticVariation 0.01 disgenet
Osteochondromatoses ACVR2A disease C0206641 AlteredExpression 0.01 disgenet
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