Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Short Stature, Idiopathic, X-Linked SHOX disease C1845118 Biomarker 0.71 disgenet
Short Stature, Idiopathic, X-Linked SHOX disease C1845118 CausalMutation 0.71 disgenet
Short Stature, Idiopathic, X-Linked SHOX disease C1845118 GermlineCausalMutation 0.71 disgenet
Short Stature, Idiopathic, X-Linked GHR disease C1845118 GeneticVariation 0.05 disgenet
Short Stature, Idiopathic, X-Linked IGF1 disease C1845118 GeneticVariation 0.02 disgenet
Short Stature, Idiopathic, X-Linked IGF1 disease C1845118 AlteredExpression 0.02 disgenet
Short Stature, Idiopathic, X-Linked GH1 disease C1845118 GeneticVariation 0.02 disgenet
Short Stature, Idiopathic, X-Linked ARX disease C1845118 GeneticVariation 0.02 disgenet
Short Stature, Idiopathic, X-Linked LEPR disease C1845118 GeneticVariation 0.01 disgenet
Short Stature, Idiopathic, X-Linked CCL2 disease C1845118 AlteredExpression 0.01 disgenet
Short Stature, Idiopathic, X-Linked MAGI2 disease C1845118 GeneticVariation 0.01 disgenet
Short Stature, Idiopathic, X-Linked NR0B2 disease C1845118 Biomarker 0.01 disgenet
Short Stature, Idiopathic, X-Linked VDR disease C1845118 GeneticVariation 0.01 disgenet
Short Stature, Idiopathic, X-Linked IGFBP3 disease C1845118 AlteredExpression 0.01 disgenet
Short Stature, Idiopathic, X-Linked KLHL17 disease C1845118 GeneticVariation 0.01 disgenet
Short Stature, Idiopathic, X-Linked IGF1R disease C1845118 AlteredExpression 0.01 disgenet
Short Stature, Idiopathic, X-Linked PTPN6 disease C1845118 Biomarker 0.01 disgenet
Short Stature, Idiopathic, X-Linked JAK2 disease C1845118 AlteredExpression 0.01 disgenet
Short Stature, Idiopathic, X-Linked CCL8 disease C1845118 AlteredExpression 0.01 disgenet
Short Stature, Idiopathic, X-Linked CDX2 disease C1845118 GeneticVariation 0.01 disgenet
Short Stature, Idiopathic, X-Linked SOCS2 disease C1845118 Biomarker 0.01 disgenet
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