Diseasome: an integrated database of Genes, Genetic variation, and Diseases

Because genetic variation such as single nucleotide polymorphisms (SNPs) can cause disease by influencing important biological regulatory processes, the relationship between genomic variation and diseases is becoming a key research topic. Despite the need, there are presently only a few databases of genetic variations associated with diseases. For association information between genetic variation and diseases, we developed a database, Diseasome, which is an integrated database of genes, genetic variation and diseases. This database provides a disease thesaurus with a tree view of that shows the number of genes that are associated with diseases, and a genome browser for conveniently looking up potentially deleterious SNPs among the genes that are strongly associated with specific diseases and clinical phenotypes. It also provides semi-automatic ways of deriving the list of candidate SNPs to be evaluated in epidemiological or molecular biological experiments for disease association studies. Currently, it contains 14,674 records on genetic variation and 109,715 records on genes related to human diseases.



By SNP (e.g. rs1800562, rs2020943)
By Gene (e.g. BRCA1, CMA1, A2M)
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By Disease (e.g. Breast Cancer)