KEGG DISEASE Database
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In KEGG, diseases are viewed as perturbed states of the molecular system. Different types of diseases, including single-gene (monogenic) diseases, multifactorial diseases, and infectious diseases, are all treated in a unified manner as follows.
Genetic perturbations
Environmental perturbations | --> Perturbed molecular network --> Disease |
Our knowledge on perturbed molecular networks has been captured and represented as disease pathway maps in the KEGG PATHWAY database. The KEGG DISEASE database is a new collection of disease entries capturing knowledge on genetic and environmental perturbations. Each disease entry is identified by the H number and contains a list of known genetic factors (disease genes), environmental factors, diagnostic markers, and therapeutic drugs. Diseases with known genetic factors and infectious diseases with known pathogen genomes are being organized in KEGG DISEASE and classified in the following BRITE hierarchy.
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Disease Pathway Maps
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The Human Diseases category of the KEGG PATHWAY database is a collection of perturbed molecular networks.
It contains multifactorial diseases such as cancers, immune disorders, neurodegenerative diseases, and circulatory diseases, where known disease genes (genetic perturbants) are marked in red. It also contains some infectious diseases where interacting molecular networks of both pathogens and humans are depicted.
The KEGG DISEASE entry only indicates membership information, i.e., association of genes and molecules to diseases, but may reflect the underlying molecular network.
For single-gene diseases, perturbed pathway maps are not drawn, but causative genes are mapped to normal pathway maps through disease entries.
There are a number of disease databases available, but they are mostly descriptive databases for humans to read and understand. Disease information in KEGG are in more computable forms, pathway maps and gene/molecule lists, enabling the analysis of molecular networks by integrating with different datasets, especially large-scale molecular datasets generated by sequencing and other high-throughput experimental technologies.
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Disease knowledge representation in KEGG:
(a) pathway map representation of chronic myeloid leukemia (hsa05220),
(b) simple list representation (lists of disease genes and relevant molecules) of chronic myeloid leukemia (H00004), and
(c) hierarchical list representation of chronic myeloid leukemia under a classification of human diseases (br08402).
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Disease Classification
The KEGG DISEASE entries are being classified in the following BRITE hierarchy file.
In addition, existing disease classifications are utilized.
Diseases genes in the OMIM database can be examined in the following protein classifications by BRITE mapping.
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Last updated: January 18, 2010
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