OrthoDisease: A Human Disease Ortholog Database

Kevin O Brien1, Isabelle Westerlund, Erik Sonnhammer
1kevobr@mbox.ki.se, Karolinska Institutet

Comparative genome analysis allows the direct comparison of gene/protein sequence between two distinct species. Its impact on the study of human inherited disease genes and their corresponding mutations has been the identification of their ortholog(s), to facilitate the mutation of that gene and ultimately the mimicry of the disease in a model organism. However, a centralized tool for such a search of human disease-gene orthologs in common model organisms is lacking. Here, we report the construction of a novel database termed OrthoDisease, which was constructed using the Inparanoid program to analyze a list of disease genes derived from the Mendelian Inheritance in Man (MIM) database. Pairwise whole genome/proteome comparisons between Homo sapiens and six other organisms was performed using the Inparanoid tool to identify inparalog clusters. As of February 2003, of the 2220 MIM numbers extracted from the MIM morbid map, 1438 were allocated accession numbers using Locuslink mim2loc and loc2acc tables. From these 1438 MIM numbers, 2390 associated disease-genes found an inparalog cluster in at least one organism. This database is accessible online at orthodisease.cgb.ki.se and can be searched according to disease/gene/protein name or EC/MIM number. Output consists of inparalog clusters, which presents orthologous relationships of disease genes not only between species but also puts this relationship in its context at a genome-wide level for both humans and the model organism.