Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Specific Granule Deficiency CEBPE disease C0398593 Biomarker 0.72 orphanet , disgenet
Specific Granule Deficiency CEBPE disease C0398593 CausalMutation 0.72 orphanet , disgenet
Specific Granule Deficiency CEBPE disease C0398593 GermlineCausalMutation 0.72 orphanet , disgenet
Specific Granule Deficiency SMARCD2 disease C0398593 CausalMutation 0.6 orphanet , disgenet
Specific Granule Deficiency SMARCD2 disease C0398593 Biomarker 0.6 orphanet , disgenet
Specific Granule Deficiency SMARCD2 disease C0398593 GermlineCausalMutation 0.6 orphanet , disgenet
Specific Granule Deficiency LTF disease C0398593 AlteredExpression 0.02 disgenet
Specific Granule Deficiency EBP disease C0398593 GeneticVariation 0.01 disgenet
Specific Granule Deficiency MPO disease C0398593 Biomarker 0.01 disgenet
Specific Granule Deficiency HP disease C0398593 Biomarker 0.01 disgenet
Specific Granule Deficiency HDAC1 disease C0398593 Biomarker 0.01 disgenet
Specific Granule Deficiency CEBPA disease C0398593 GeneticVariation 0.01 disgenet
Specific Granule Deficiency BPI disease C0398593 GeneticVariation 0.01 disgenet
Specific Granule Deficiency GFI1 disease C0398593 Biomarker 0.01 disgenet
Specific Granule Deficiency ELANE disease C0398593 Biomarker 0.01 disgenet
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