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Human disease genes

Author

Listed:
  • Gerardo Jimenez-Sanchez

    (McKusick-Nathans Institute of Genetic Medicine)

  • Barton Childs

    (McKusick-Nathans Institute of Genetic Medicine)

  • David Valle

    (McKusick-Nathans Institute of Genetic Medicine
    Howard Hughes Medical Institute, Johns Hopkins University School of Medicine)

Abstract

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.

Suggested Citation

  • Gerardo Jimenez-Sanchez & Barton Childs & David Valle, 2001. "Human disease genes," Nature, Nature, vol. 409(6822), pages 853-855, February.
    • Handle: RePEc:nat:nature:v:409:y:2001:i:6822:d:10.1038_35057050
    DOI: 10.1038/35057050
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    Cited by:

    1. Jiawei Luo & Yi Qi, 2015. "Identification of Essential Proteins Based on a New Combination of Local Interaction Density and Protein Complexes," PLOS ONE, Public Library of Science, vol. 10(6), pages 1-27, June.
    2. Gautam Sabnis & Debdeep Pati & Anirban Bhattacharya, 2019. "Compressed Covariance Estimation with Automated Dimension Learning," Sankhya A: The Indian Journal of Statistics, Springer;Indian Statistical Institute, vol. 81(2), pages 466-481, December.
    3. Jin, Haiyan & Zhang, ChenXing & Ma, Mengzhou & Gong, Qianhua & Yu, Liang & Guo, Xingli & Gao, Lin & Wang, Bingbo, 2020. "Inferring essential proteins from centrality in interconnected multilayer networks," Physica A: Statistical Mechanics and its Applications, Elsevier, vol. 557(C).

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