HumanEnsembl Home


Example page

Three sections appear on this page.

The first section lists diseases and phenotypes directly associated with a gene by the Online Mendelian Inheritance in Man (OMIM) compendium, Orphanet, DDG2P and other sources in human. In other species these phenotypes come from International Mouse Phenotyping Consortium (IMPC; mouse), Europhenome (mouse), ZFIN (zebrafish), Rat Genome Database (RGD; rat), Animal_QTLdb (various) and Online Mendelian Inhertiance in Animals (OMIA; various). You can see which databases are used for phenotypes for each species on our Variation sources page.

The second section shows a table of diseases and phenotypes associated with a gene based on a sequence variant. For example, if the COSMIC project identifies a sequence variant correlated with cancer, and they associate the variant with the CAV3 gene, Ensembl will show the CAV3 gene association to cancer in this list. See this help page for the sources of these associations.

Click on Show next to any phenotype in the table in order to reveal more information about the sequence variant.

It is possible to retrieve the list of variations associated to the COSMIC phenotypes in BioMart whenever this list is greater than 250. Otherwise it can be seen on the Karyotype view.

The third section lists any orthologues of the gene that are associated with phenotypes in that species. Note that because of biological differences between species, some phenotypes will not be easy to translate to another species.