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Gene Disease Database
(詳細はBioinformatics, a Gene Disease Database is a systematized collection of data, typically structured to model aspects of reality, in a way to comprehend the underlying mechanisms of complex diseases, by understanding multiple composite interactions between phenotype-genotype relationships and gene-disease mechanisms.〔A. Bauer-Mehren, "Gene-Disease network Analysis Reveals Functional Modules in Mendelian, Complex and Environmental diseases," PLOS One, pp. 1-3, 2011.〕 Gene Disease Databases integrates human gene-disease associations from various expert curated databases and text-mining derived associations including Mendelian, complex and environmental diseases.〔R. N. Botstein D, "Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease.," Nature genetics, vol. 33, no. 1, pp. 228-237, 2003.〕
== Introduction ==
Experts in different areas of biology and bioinformatics have been trying to comprehend the molecular mechanisms of diseases to design preventive and therapeutic strategies for a long time. For some illnesses, it has become apparent that it is not enough to obtain an index of the disease-related genes but to uncover how disruptions of molecular grids in the cell give rise to disease phenotypes.〔American Medical Informatics Association, "American Medical Informatics Association Strategic Plan," August 2011. (). Available: http://www.amia.org/inside/stratplan/. (15 October 2014 ).〕 Moreover, with the unprecedented wealth of information available, even obtaining such catalogues is extremely difficult.
Genetic illnesses are caused by aberrations in genes or chromosomes. Many genetic diseases are developed from before birth. Genetic disorders account for a significant number of the health care problems in our society. Advances in the understanding of this diseases have increased both the life span and quality of life for many of those affected by genetic disorders. Recent developments in bioinformatics and laboratory genetics have made possible the better delineation of certain malformation and mental retardation syndromes, so that their mode of inheritance can be understood. This information enables the genetic counselor to predict the risk for occurrence of a large number of genetic disorders.〔 Most genetic counseling is done, however, only after the birth of at least one affected individual has alerted the family to their predilection for having children with a genetic disorder. The association of a single gene to a disease is rare and a genetic disease may or may not be a transmissible disorder.〔B. H. Oti M, "The modular nature of genetic diseases.," Clinical genetics, vol. 71, no. 1, pp. 1-11, 2007.〕 Some genetic diseases are inherited from the parent’s genes, but others are caused by new mutations or changes to the DNA. In other occurrences, the same disease, for instance, some forms of carcinoma or melanoma, may stem from an inbred condition in some people, from new changes in other people, and from non-genetic causes in still other individuals.〔A. Davis and B. King, "The Comparative Toxicogenomics Database: update 2011," Nucl. Acids Res, vol. 39, no. 1, pp. 1067-1072, 2011.〕
There are more than six thousand known single-gene disorders (monogenic), which occur in about 1 out of every 200 births.〔 As their term suggests, these diseases are caused by a mutation in one gene. By contrast, polygenic disorders are caused by several genes, regularly in combination with environmental factors.〔A. Davis and T. Wiegers, "Text Mining Effectively Scores and Ranks the Literature for Improving Chemical-Gene-Disease Curation at the Comparative Toxicogenomics Database," PLOS One, vol. 8, no. 4, pp. 1-29, 2013.〕 Examples of genetic phenotypes include Alzheimer's disease, breast cancer, leukemia, Down syndrome, heart defects, and deafness; therefore, cataloguing to sort out all the diseases related to genes is needed.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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