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How can I get medical advice from UniProtKB?

UniProtKB is a protein sequence database and our staff consists of biologists and biochemists that are not trained to give medical advice.

UniProtKB/Swiss-Prot contains a limited amount of information concerning genetic diseases (in the ‘Pathology and Biotech’ section, “Involvement in disease” subsection), as well as sequence information on some disease-linked polymorphisms or mutations (see 'Sequence’section, or 'Pathology and Biotech section; “Natural variant”).

see:

Much more information on diseases is available from the OMIM database.

In case you are interested in a “rare” genetic disease you can look up the Orphanet website.

In addition, the following sites may be of help as they offer a variety of links to information sources on medical topics:

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