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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.

Gene Phenotypes

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.

Variation phenotypes

Phenotypes associated with SNPs and other variants come from multiple sources. They can be viewed for any variant in the variation tab. Example phenotype data display.

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.