HumanEnsembl Home

Phenotype

Example page

Two 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, and other sources.

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.