Figure 3

Disease classifications with non-conforming evolutionary origins. The 29 “level-1” disease-related annotations corresponding to genes with significantly deviating evolutionary distribution from the null model (“All OMIM”, see Figure 1 and Methods). Individual phylostratigraphic bins having over- or under-representation compared to the null model (Fisher’s exact test, 2 × 2 contingency table; p < 0.05) are indicated. Disease classes are hierarchically clustered by Euclidean distance-based similarity. RespSys (Respiratory System Development and Function), AudVeSys (Auditory and Vestibular System Development and Function), InfectDis (Infectious Disease), ImCelTra (Immune Cell Trafficking), InflamDis (Inflammatory Disease), CellSign (Cell Signaling), Hematop (Hematopoiesis), ImmuDis (Immunological Disease), C2CSign (Cell-to-Cell Signaling and Interaction), EndocSys (Endocrine System Disorders), VitMinMet (Vitamin and Mineral Metabolism), HemaSys (Hematological System Development and Function), InflamRes (Inflammatory Response), HepaSys (Hepatic System Disease), LymphTis (Lymphoid Tissue Structure and Development), HemaDis (Hematological Disease), CardioDis (Cardiovascular Disease), CellMove (Cellular Movement), ConnTis (Connective Tissue Disorders), NervSys (Nervous System Development and Function), SkeMuSys (Skeletal and Muscular System Development and Function), GeneExp (Gene Expression), CellDev (Cellular Development), TisMorph (Tissue Morphology), TisDev (Tissue Development), OrgDev (Organismal Development), OrganMor (Organ Morphology), OrganDev (Organ Development), EmbryDev (Embryonic Development). A dagger (†) denotes annotations not identified as significant with an alternative phylostratification method based on reciprocal BLASTP (see Methods).