Human disease genes

Nature. 2001 Feb 15;409(6822):853-5. doi: 10.1038/35057050.


The complete human genome sequence will facilitate the identification of all genes that contribute to disease. We propose that the functional classification of disease genes and their products will reveal general principles of human disease. We have determined functional categories for nearly 1,000 documented disease genes, and found striking correlations between the function of the gene product and features of disease, such as age of onset and mode of inheritance. As knowledge of disease genes grows, including those contributing to complex traits, more sophisticated analyses will be possible; their results will yield a deeper understanding of disease and an enhanced integration of medicine with biology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Disease
  • Genes
  • Genetic Diseases, Inborn*
  • Human Genome Project*
  • Humans