Comparing distributions of experimental and random diffusion values (p-values for KS tests) Seeds Recipients Randomize Seeds (degree-matched) Randomize Recipients (degree-matched) Randomize Seeds (uniform) Randomize Recipients (uniform) Tier1-Fuchs Exclusive HPO 4.26e-02 4.61e-02 5.22e-02 1.91e-10 HPO Exclusive Tier1-Fuchs 2.24e-04 1.08e-03 1.77e-05 1.20e-04 Tier1-Fuchs Exclusive HPO Exclusive 2.07e-01 2.86e-01 1.82e-01 1.40e-09 HPO Exclusive Tier1-Fuchs Exclusive 7.60e-02 1.10e-01 5.46e-02 1.78e-01 Tier1-Fuchs Exclusive Overlap 1.50e-05 9.81e-06 9.81e-06 1.02e-05 HPO Exclusive Overlap 2.62e-06 3.28e-06 2.62e-06 3.59e-06 Overlap Exclusives 5.47e-07 5.51e-08 2.16e-23 4.07e-15 Evaluating how well Tier1-Fuchs genes are linked to HPO genes, comparing against random ROC results Seeds Recipients AUROC Z-score for Random Seeds (degree-matched) Z-score for Random Recipients (degree-matched) Z-score for Random Seeds (uniform) Z-score for Random Recipients (uniform) Tier1-Fuchs Exclusive HPO 0.66 0.71 2.66 0.66 6.92 HPO Exclusive Tier1-Fuchs 0.79 3.20 3.69 2.97 3.92 Tier1-Fuchs Exclusive HPO Exclusive 0.65 0.62 1.87 0.55 5.17 HPO Exclusive Tier1-Fuchs Exclusive 0.64 2.07 2.26 1.86 1.44 Tier1-Fuchs Exclusive Overlap 0.98 3.19 4.48 3.04 3.85 HPO Exclusive Overlap 0.99 3.00 4.15 3.46 4.53 Overlap Exclusives 0.72 2.48 7.19 2.75 9.55 PRC results Seeds Recipients AUPRC Z-score for Random Seeds (degree-matched) Z-score for Random Recipients (degree-matched) Z-score for Random Seeds (uniform) Z-score for Random Recipients (uniform) Tier1-Fuchs Exclusive HPO 0.02 2.49 7.57 1.58 9.70 HPO Exclusive Tier1-Fuchs 0.01 21.34 6.78 31.52 12.03 Tier1-Fuchs Exclusive HPO Exclusive 0.01 1.66 3.69 0.81 3.96 HPO Exclusive Tier1-Fuchs Exclusive 0.00 2.56 0.85 2.32 0.24 Tier1-Fuchs Exclusive Overlap 0.01 28.52 40.28 25.92 14.57 HPO Exclusive Overlap 0.02 10.09 12.85 41.02 77.61 Overlap Exclusives 0.05 6.99 38.71 18.03 53.98 Z-scores are computed for the experimental area under ROC or PRC based on distributions of the random areas under these curves Seeds: Genes where diffusion signal starts FROM) Recipients: Genes that receive the diffusion signal and that are in the other validated group Random genes are selected either uniformly or degree matched Number of genes ** #Total # Mapped in the network Not mapped genes Tier1-Fuchs Exclusive 8 8 HPO Exclusive 152 149 PWRN1;SNORD116-1;SNORD115-1 Overlap 6 6