Genes and Disease has been a feature of the National Center for Biotechnology Information (NCBI) website since 1996. Its first incarnation was as a web supplement to the 1996 Genome Map Poster, published by Science magazine. 46 genes that had been linked to genetic disorders and mapped to human chromosomes were featured on the website, along with short write-ups highlighting the clinical features of the disorder and links to the sequence.
In 1998, the site was updated and rewritten under the title Genes and Disease. The emphasis was shifted from descriptions of clinical symptoms to brief summaries of the molecular basis for genetic disease. Between 1998 and 2001 the site was expanded to feature over 80 genes linked to human disorders.
The Bookshelf version of Genes and Disease has the same content as before, but including it on the NCBI Bookshelf allows the content to be searched as well as browsed. As previously, each disorder has a link to Online Mendelian Inheritance in Man (OMIM), as well as a small selection of links to key websites. Further updates to the site include an improved navigation system and links to: (1) the human genome, showing the location of genes implicated in each disorder, even for complex diseases; (2) related gene sequences in different organisms; (3) full-text research articles (4) other books in the NCBI Bookshelf.