Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Histiocytosis with joint contractures and sensorineural deafness SLC29A3 disease C1864445 CausalMutation 0.8 orphanet , disgenet
Histiocytosis with joint contractures and sensorineural deafness SLC29A3 disease C1864445 Biomarker 0.8 orphanet , disgenet
Histiocytosis with joint contractures and sensorineural deafness SLC29A3 disease C1864445 GermlineCausalMutation 0.8 orphanet , disgenet
Histiocytosis with joint contractures and sensorineural deafness SLC29A3 disease C1864445 GeneticVariation 0.8 orphanet , disgenet
Histiocytosis with joint contractures and sensorineural deafness S100B disease C1864445 AlteredExpression 0.03 disgenet
Histiocytosis with joint contractures and sensorineural deafness S100A1 disease C1864445 Biomarker 0.03 disgenet
Histiocytosis with joint contractures and sensorineural deafness S100B disease C1864445 Biomarker 0.03 disgenet
Histiocytosis with joint contractures and sensorineural deafness S100A1 disease C1864445 AlteredExpression 0.03 disgenet
Histiocytosis with joint contractures and sensorineural deafness TNF disease C1864445 Biomarker 0.01 disgenet
Histiocytosis with joint contractures and sensorineural deafness CD68 disease C1864445 Biomarker 0.01 disgenet
Histiocytosis with joint contractures and sensorineural deafness WT1 disease C1864445 Biomarker 0.01 disgenet
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