Learn about a disease or phenotype
Phenotypes such as diseases and traits are associated to genes or variants in Ensembl. A list of all phenotypes for human and other species can be found on our website. See the variation phenotype help and the gene phenotype help for sources of phenotype associations , which include OMIM, dbSNP, Orphanet, COSMIC and more.
A table of phenotypes for an Ensembl gene is provided in the gene tab, via the phenotype link in the left hand menu.
Click on 'view all locations' for a karyotype showing all genomic locations of genes and variants associated with the phenotype.
Search and display
Search for a phenotype, and click the search result to find a karyotype with associated locations of genes and variants.
A gradient of p-values is shown by color, signifying the strength of the association.
Underneath the graphic, find an exportable table of associated genes and variants.