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Where are disease and phenotype associations from OMIM (for human)?

Gene views

Associations between diseases and phenotypes and human genes can be found on the Gene tab, phenotype view.

Direct associations are imported from the Online Mendelian Inheritance in Man (OMIM). They are considered as external references or Xrefs and may also be found in the Gene tab by clicking on the External references link in the left hand menu.

Other associations between a disease/phenotype and a gene are based on studies involving sequence variants. These are shown in the gene tab, phenotype view, and come from these sources.

Location views

The OMIM and other selected variation sets can be viewed for a region in the Location tab. Use Configure this page to turn on the OMIM phenotype variants track, or example. The Variation tab, Phenotype Data view also shows phenotypes for variations.

Phenotypes, associated genes and variations can also be viewed on the karyotype.

The Perl API and BioMart also allow access to OMIM associations for both genes and variations.


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