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) ATVB-rare Exclusive ClinVar 1.62e-01 3.00e-02 2.24e-01 7.96e-06 ClinVar Exclusive ATVB-rare 1.58e-01 5.58e-01 2.94e-02 8.43e-01 ATVB-rare Exclusive ClinVar Exclusive 1.99e-01 3.77e-02 2.24e-01 8.89e-06 ClinVar Exclusive ATVB-rare Exclusive 1.45e-01 6.06e-01 3.38e-02 7.83e-01 ATVB-rare Exclusive Overlap 6.90e-01 3.80e-01 8.29e-01 2.17e-01 ClinVar Exclusive Overlap 9.75e-02 9.75e-02 9.92e-02 1.12e-01 Overlap Exclusives 4.08e-02 6.21e-03 5.11e-34 5.36e-04 Evaluating how well ATVB-rare genes are linked to ClinVar 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) ATVB-rare Exclusive ClinVar 0.72 0.81 2.50 0.77 4.66 ClinVar Exclusive ATVB-rare 0.51 0.82 0.68 0.63 0.44 ATVB-rare Exclusive ClinVar Exclusive 0.71 0.77 2.52 0.77 4.78 ClinVar Exclusive ATVB-rare Exclusive 0.51 0.85 0.57 0.46 0.52 ATVB-rare Exclusive Overlap 0.87 0.39 0.64 0.32 1.34 ClinVar Exclusive Overlap 1.00 1.29 1.35 1.51 1.59 Overlap Exclusives 0.59 1.19 3.28 2.17 4.00 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) ATVB-rare Exclusive ClinVar 0.00 0.04 1.70 -0.02 2.96 ClinVar Exclusive ATVB-rare 0.01 1.28 0.40 0.21 0.42 ATVB-rare Exclusive ClinVar Exclusive 0.00 -0.05 1.32 0.19 3.20 ClinVar Exclusive ATVB-rare Exclusive 0.01 1.12 0.20 0.23 0.22 ATVB-rare Exclusive Overlap 0.00 -0.25 -0.11 -0.30 -0.10 ClinVar Exclusive Overlap 0.01 2.94 11.44 21.46 5.05 Overlap Exclusives 0.02 6.22 8.11 4.11 6.03 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 ATVB-rare Exclusive 137 137 ClinVar Exclusive 38 38 Overlap 1 1