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How can I get all the proteins involved in a given disease?

Last modified September 22, 2020

Information relevant to diseases associated with a given protein are found in the section 'Pathology and Biotech'. The information given (including the disease name) is consistent with the literature and the OMIM database.

You can use three methods to search proteins associated with a given disease.

1) Search for proteins using the query builder:

  • Select Protein Knowledgebase (UniProtKB) from the dataset dropdown next to the search box
  • Click Advanced to open the query builder
  • Select Field: Pathology and Biotech, or start typing "disease" in the text box with the grey text "Search for field"
  • Type the name of a disease in the Term box (e.g. 'adrenal hyperplasia')
  • Click on the looking glass icon to launch the search
  • result

2) Search via the controlled vocabulary of human diseases:

  • Select Human diseases from the dataset dropdown next to the search box, or go to the Human diseases page
  • Enter a search term or use the Advanced search (e.g. adrenal hyperplasia)
  • Browse through your results, choose a disease (e.g. Adrenal hyperplasia 4) and click on the UniProtKB link below it.

3) Browse by keyword:

Some proteins involved in a specific non-monogenic disease are associated with specialized 'disease' keywords ('Diabetes mellitus', 'Cataract', 'Alzheimer disease'...)

  • Go to the keywords page
  • Click the keyword category 'Disease'
  • Browse the keywords navigation table
  • Click your chosen term, e.g. 'Diabetes mellitus'
  • Click 'UniProtKB' to view corresponding proteins

Note 1: Currently, these keywords apply mainly to non-monogenic diseases.

Note 2: The keyword 'Disease mutation' is used for proteins with at least one disease-associated variant. Variants are described in the 'Pathology and Biotech' and in the 'Sequence' sections of a protein entry.

See also:

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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