Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Severe combined immunodeficiency due to adenosine deaminase deficiency ADA disease C0392607 Biomarker 0.8 orphanet , disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency ADA disease C0392607 AlteredExpression 0.8 orphanet , disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency ADA disease C0392607 GeneticVariation 0.8 orphanet , disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency ADA disease C0392607 CausalMutation 0.8 orphanet , disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency ADA disease C0392607 GermlineCausalMutation 0.8 orphanet , disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency PKIG disease C0392607 CausalMutation 0.1 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency CD34 disease C0392607 Biomarker 0.06 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency PAEP disease C0392607 Biomarker 0.03 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency PAEP disease C0392607 GeneticVariation 0.03 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency IL2RG disease C0392607 Biomarker 0.02 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency TLR2 disease C0392607 Biomarker 0.02 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency DPP4 disease C0392607 Biomarker 0.02 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency FUT1 disease C0392607 GeneticVariation 0.02 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency NT5E disease C0392607 GeneticVariation 0.01 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency ADSL disease C0392607 AlteredExpression 0.01 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency ENTPD1 disease C0392607 GeneticVariation 0.01 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency UROD disease C0392607 GeneticVariation 0.01 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency IL7 disease C0392607 Biomarker 0.01 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency JAK3 disease C0392607 Biomarker 0.01 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency ADCP1 disease C0392607 Biomarker 0.01 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency RAG1 disease C0392607 Biomarker 0.01 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency PNP disease C0392607 Biomarker 0.01 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency ITPA disease C0392607 Biomarker 0.01 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency CALCA disease C0392607 GeneticVariation 0.01 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency NT5C2 disease C0392607 Biomarker 0.01 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency DCLRE1C disease C0392607 GeneticVariation 0.01 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency ADK disease C0392607 AlteredExpression 0.01 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency LINC02605 disease C0392607 Biomarker 0.01 disgenet
Severe combined immunodeficiency due to adenosine deaminase deficiency IL3 disease C0392607 Biomarker 0.01 disgenet
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