Model organisms are a valuable source for the characterisation and identification of disease-gene associations, especially when the molecular basis and/or function of the candidate target are unknown.
The Wellcome Sanger Institute PhenoDigm database provides evidence on associations of targets and disease. It uses a semantic approach to map between clinical features observed in humans and mouse phenotype annotations. The phenotypic effects in mice are then mapped to phenotypes associated with human diseases. The matches are identified and a similarity score between a mouse model and a human disease is computed. Details on the scoring are described elsewhere (Smedley et al 2013).