Fig. 6. Patient cohort and gene prioritization performance.

a Data access and filtering: Querying for intellectual disability phenotypes resulted in 819 patients, 131 of which were solved cases with rare and pathogenic variants in an average of over 400 genes. b Basic characteristics of patient variants, associated phenotypes and diagnoses. c ROC curves for the performance of causal gene prioritization of our approach (yellow, AUROC = = 0.95) and various gene level based benchmarks (AUROC between 0.59 and 0.87). d Number of patients for which the true causal gene was prioritized among the top five, 10, and 20 for all considered methods. The informed multiplex propagation placed the true causal gene among the top five ranked genes for 64 out of 131 patients (48.9%). For the purely gene-based methods, the causal gene was among the top five in only between 4 and 11 patients (3.1–8.4%).