Fig. 2
From: Using multi-scale genomics to associate poorly annotated genes with rare diseases
Phenotypic diversity in A a cohort of 109 patients from the exome database and B a simulated dataset of 300 individuals with 300 pathogenic variants from ClinVar inserted into their genomes. The patients exhibit a wide range of phenotypes. Notably, various shared phenotypes, especially related to metabolic and neurological diseases, are observed among the patients. Key: ID, intellectual disability; GI, gastrointestinal disorders