Help & Documentation

Disease pages

Disease pages provide a human-centric view on mouse phenotypic data. Each disease page provides a summary of a human genetic disease and the mouse models that bare similarity with the disease via gene orthology or via phenotypic profiles.

The page header provides a summary of the available disease annotations, including associated phenotypes and established genetic causes.

All annotations in the page header originate from external sources: OMIM, ORPHANET and DECIPHER; phenotypes originate from the Human Phenotype Ontology (Köhler et al. 2014) working group.

Below the header section, the mouse model associations are depicted, by phenotypic similarity between mouse models and the disease. Mouse data originates from the IMPC and from MGI, a repository of mouse models produced by the scientific community. The section consists of two tabs.

The first tab displays mouse genes that are orthologs to human genes previously associated with the disease. This tab is populated only if there are any mouse models available.

The second tab lists mouse genes for which models show phenotypic similarity with the disease. This tab contains any gene for which any model has similar phenotypes with the disease.

Each row in the table displays the mouse gene (symbol), the number of mouse models available for that gene, and the maximum score, for all the available models for that gene, capturing the phenotypic similarity. Rows are expandable to reveal detailed information about the models that are available for a given gene. Models produced by the IMPC are highlighted with an IMPC logo. The detail view also shows the associated phenotypes and phenotypic similarity scores. Scores are computed using the Phenodigm algorithm.

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