Fig. 4
From: Rare disorders have many faces: in silico characterization of rare disorder spectrum
Top 20 enriched Reactome pathways for the borderline-common, rare, and ultra-rare disorders. For the top 20 enriched Reactome pathways, 6 enriched Reactome pathways (disease, developmental biology, signal transduction, immune system, cytokine signaling in immune system and extracellular matrix organization) were found for each of the disorder categories. In addition, diseases of signal transduction and muscle contraction were enriched for both the borderline-common and rare disorder category, and adaptive immune system, metabolism, generic transcription pathway, innate immune system and signaling by receptor tyrosine kinases were enriched for both the rare and ultra-rare disorder category within top 20