Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Neutropenia, Severe Congenital, Autosomal Dominant 1 ELANE disease C1859966 Biomarker 0.7 disgenet
Neutropenia, Severe Congenital, Autosomal Dominant 1 ELANE disease C1859966 GeneticVariation 0.7 disgenet
Neutropenia, Severe Congenital, Autosomal Dominant 1 ELANE disease C1859966 GermlineCausalMutation 0.7 disgenet
Neutropenia, Severe Congenital, Autosomal Dominant 1 ELANE disease C1859966 CausalMutation 0.7 disgenet
Neutropenia, Severe Congenital, Autosomal Dominant 1 TCIRG1 disease C1859966 GermlineCausalMutation 0.4 disgenet
Neutropenia, Severe Congenital, Autosomal Dominant 1 TCIRG1 disease C1859966 CausalMutation 0.4 disgenet
Neutropenia, Severe Congenital, Autosomal Dominant 1 SRP54 disease C1859966 GermlineCausalMutation 0.3 disgenet
Neutropenia, Severe Congenital, Autosomal Dominant 1 GFI1 disease C1859966 GermlineCausalMutation 0.3 disgenet
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