Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Exostoses, Multiple Hereditary EXT1 disease C0015306 Biomarker 1 orphanet , disgenet
Exostoses, Multiple Hereditary EXT1 disease C0015306 CausalMutation 1 orphanet , disgenet
Exostoses, Multiple Hereditary EXT1 disease C0015306 PosttranslationalModification 1 orphanet , disgenet
Exostoses, Multiple Hereditary EXT1 disease C0015306 GeneticVariation 1 orphanet , disgenet
Exostoses, Multiple Hereditary EXT1 disease C0015306 AlteredExpression 1 orphanet , disgenet
Exostoses, Multiple Hereditary EXT2 disease C0015306 AlteredExpression 0.7 orphanet , disgenet
Exostoses, Multiple Hereditary EXT2 disease C0015306 GeneticVariation 0.7 orphanet , disgenet
Exostoses, Multiple Hereditary EXT2 disease C0015306 Biomarker 0.7 orphanet , disgenet
Exostoses, Multiple Hereditary PTPN11 disease C0015306 Biomarker 0.3 disgenet
Exostoses, Multiple Hereditary SHOX disease C0015306 Biomarker 0.1 disgenet
Exostoses, Multiple Hereditary EXT3 disease C0015306 Biomarker 0.05 disgenet
Exostoses, Multiple Hereditary EXT3 disease C0015306 GeneticVariation 0.05 disgenet
Exostoses, Multiple Hereditary HPSE disease C0015306 Biomarker 0.03 disgenet
Exostoses, Multiple Hereditary HPSE disease C0015306 AlteredExpression 0.03 disgenet
Exostoses, Multiple Hereditary TRPS1 disease C0015306 GeneticVariation 0.02 disgenet
Exostoses, Multiple Hereditary MMP12 disease C0015306 Biomarker 0.02 disgenet
Exostoses, Multiple Hereditary EXTL3 disease C0015306 GeneticVariation 0.02 disgenet
Exostoses, Multiple Hereditary SDC2 disease C0015306 Biomarker 0.02 disgenet
Exostoses, Multiple Hereditary EXTL2 disease C0015306 Biomarker 0.02 disgenet
Exostoses, Multiple Hereditary EXTL3 disease C0015306 Biomarker 0.02 disgenet
Exostoses, Multiple Hereditary MMP12 disease C0015306 GeneticVariation 0.02 disgenet
Exostoses, Multiple Hereditary EXTL2 disease C0015306 GeneticVariation 0.02 disgenet
Exostoses, Multiple Hereditary SDC2 disease C0015306 GeneticVariation 0.02 disgenet
Exostoses, Multiple Hereditary TRPS1 disease C0015306 Biomarker 0.02 disgenet
Exostoses, Multiple Hereditary HSPG2 disease C0015306 GeneticVariation 0.02 disgenet
Exostoses, Multiple Hereditary HSPG2 disease C0015306 Biomarker 0.02 disgenet
Exostoses, Multiple Hereditary SLC30A8 disease C0015306 AlteredExpression 0.01 disgenet
Exostoses, Multiple Hereditary SAMD12 disease C0015306 GeneticVariation 0.01 disgenet
Exostoses, Multiple Hereditary ACVR2A disease C0015306 AlteredExpression 0.01 disgenet
Exostoses, Multiple Hereditary SFN disease C0015306 GeneticVariation 0.01 disgenet
Exostoses, Multiple Hereditary STATH disease C0015306 GeneticVariation 0.01 disgenet
Exostoses, Multiple Hereditary LEMD3 disease C0015306 GeneticVariation 0.01 disgenet
Exostoses, Multiple Hereditary CALCA disease C0015306 AlteredExpression 0.01 disgenet
Exostoses, Multiple Hereditary UXS1 disease C0015306 Biomarker 0.01 disgenet
Exostoses, Multiple Hereditary TCF7L2 disease C0015306 GeneticVariation 0.01 disgenet
Exostoses, Multiple Hereditary MSX2 disease C0015306 Biomarker 0.01 disgenet
Exostoses, Multiple Hereditary SLC35B2 disease C0015306 Biomarker 0.01 disgenet
Exostoses, Multiple Hereditary NOTCH1 disease C0015306 Biomarker 0.01 disgenet
Exostoses, Multiple Hereditary SULT1E1 disease C0015306 Biomarker 0.01 disgenet
Exostoses, Multiple Hereditary MAP3K8 disease C0015306 Biomarker 0.01 disgenet
Exostoses, Multiple Hereditary LDLR disease C0015306 GeneticVariation 0.01 disgenet
Exostoses, Multiple Hereditary ACAN disease C0015306 Biomarker 0.01 disgenet
Exostoses, Multiple Hereditary FGF9 disease C0015306 AlteredExpression 0.01 disgenet
Exostoses, Multiple Hereditary GPC4 disease C0015306 Biomarker 0.01 disgenet
Exostoses, Multiple Hereditary ALX4 disease C0015306 GeneticVariation 0.01 disgenet
Exostoses, Multiple Hereditary CTNNB1 disease C0015306 GeneticVariation 0.01 disgenet
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