HumanEnsembl Home

Phenotype

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. 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.

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.