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

Last modified September 21, 2011

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

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

Search for proteins using the query builder:

Select Search in: Protein Knowledgebase (UniProtKB)
Click Advanced Search » to open the query builder
Select Field: General annotation [CC]
Select Topic: Involvement in disease
Type the name of a disease in the Term box (e.g. 'hemolytic anemia')
Click Add & Search
result

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

result

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 sequence annotation section of a protein entry.