How can I get medical advice from UniProtKB?
Last modified September 21, 2011
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 "General annotation (Comments)" section, "Involvement in disease" subsection), as well as sequence information on some disease-linked polymorphisms or mutations (see "Sequence annotation (Features)" section, "Natural variations -Natural variant" subsection).
see:
Much more information on diseases are available from the OMIM database.
In case you are interested in a "rare" genetic disease you can look up the Orphanet web site.
In addition, the following sites may be of help as they offer a variety of links to information sources on medical topics: