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

Last modified July 6, 2015

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: Patholoy and Biotech
  • Type the name of a disease in the Term box (e.g. ‘hemolytic anemia’)
  • 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. hemolytic anemia)
  • Browse through your results, choose a disease (e.g. ” Hemolytic anemia due to adenylate kinase deficiency” 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: