Review of GeneDis

Title: GeneDis


Date Reviewed: 5/21/01


GeneDis is a human genetic disease database with a user graphical interface to a sequence search engine. GeneDis currently includes web pages for 12 human genetic diseases. The primary sequences of genes and proteins involved in these human genetic diseases are linked to mutation tables. Known mutations are incorporated in the gene and protein sequences using hyperlinks. Users can compare DNA or protein sequences to the hyperlinked genes and proteins present in GeneDis. First, the user chooses a disease of interest from the list. This will open a form where the user pastes the sequence. The user chooses a protein or DNA sequence to which the query sequence will be compared and activates a pairwise alignment program. The pairwise alignment output retains the hyperlinks that enable the user to browse through a mutation table. The mutation table shows the location of the mutation on the cDNA, genomic DNA and protein sequence, the number of exon or intron, the severity of the disease associated with the mutation and a reference in which the mutation was first described.


GeneDis provides a nice overview of 12 common human genetic disorders. It provides links to other sites (mostly at NCBI) that provide more extensive information. In addition, for many of the disorders, it provides links for patients and families with questions about these disorders. For researchers, GeneDis offers a comprehensive list of all of the published mutations in genes covered by this database. It also includes links to PubMed references for each mutation.


The GeneDis database only includes 12 human genetic diseases (out of the hundreds that have been identified). There is a lack of uniformity in the information given in the mutation tables. For some diseases the table includes the type of mutation and the severity of disease associated with it. For other diseases all of these columns are left blank. Also, the spacing and tabulation of many of the tables is off making them difficult to read at first glance.

Comprehensiveness: GeneDis is not at all comprehensive. As mentioned above, it only covers 12 genetic diseases.

Timeliness: The references and links on this site all seem generally up to date. At the bottom of every page it gives a note with the date of its last update. Upon my visit, the last update was 2/27/01, so it may not provide information about the very latest publications.

Ease of Use: In general the site is very simple and easy to navigate.

Responsiveness: Most of the links on GeneDis load very quickly. In some cases, the mutation tables take a little bit longer to load and may leave you waiting.

Similar or Related Sites:

NCBI: Genes and Disease

HUGO Mutation Database Initiative

Human Gene Mutation Database

Overall Evaluation: 2 stars

Reviewer: Regina Baker Park

Email: Rbaker@Opal.Tufts.Edu