The ultimate goal of studying model organisms is to translate what is learned into useful knowledge about normal human biology and disease.
The IMPC disease details page contains known gene associations (via orthology to human disease genes) and known mouse models from the literature (from MGI) for the disease as well as predicted gene candidates and mouse models based on the phenotypic similarity of the disease clinical symptoms and the mouse phenotype annotations. The phenotypic similarity is calculated using the PhenoDigm algorithm (Phenotype comparisons for DIsease Genes and Models) developed by the Monarch Initiative which will allow integration of data from model organisms to identify data-supported gene candidates for human genetic diseases (Link to Methods). Mouse Genotype-Phenotype and Human disease resources are described below.
Results are broken down in 2 parts, depending on the association methodology (by gene orthology or by phenotypic similarity).
Clicking the row for a disease/gene will expand the row to show the details of the phenotype terms involved in the association between the disease and the mouse model. The orange number next to the genotype is the PhenoDigm score (see below) which is a percentage-based score . These are ranked from highest to lowest in two groups. The first group will show the manually curated mouse models from MGI. The second group will list the purely phenodigm predicted associations.
|OMIM (Online Mendelian Inheritance in Man)||An Online Catalog of Human Genes and Genetic Disorders|
|Orphanet||The portal for rare diseases and orphan drugs|
|DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resource)||Interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants|
|IMPC (International Mouse Phenotyping Consortium)||Functional catalogue of mouse mammalian genome|
|MGI (Mouse Genome Informatics)||International database resource for the laboratory mouse|