Figure 3. Catalogue query and curation strategy, data integration and web resource.

a) Web application The resulting catalogue of lethal phentoypes is available to query and download through the following url: https://lethalphenotypes.research.its.qmul.ac.uk/. A set of annotations and visualisations allow the comparison between genes in different lethality categories in terms of intolerance to variation metrics, cell proliferation scores and mouse viability assessment b) Query strategy OMIM query strategy and curation pipeline to classify OMIM Mendelian phenotype associated genes into lethality categories c) Distribution of OMIM lethal genes according to lethality categories Bar plots represent the number (in white boxes) and percentage of genes in each lethality category with respect to all genes with records of early death. Genes with an associated earliest age of death in infancy are predominant among lethal genes.