OMIM data - standardized input and pair-wise comparison

The Online Mendelian Inheritance in Man (OMIM) database is a useful reference for human genetic diseases. By standardization of its data structure, we hereby provide a user-friendly interface purported for standardized input of new patient data. Automatic diagnosis and pathway discoveries maybe achieved through pair-wise comparison and association analysis of tree data. A website has been provided at http://faculty.neu.edu.cn/bmie/han/PhenOMIM/. To illustrate the usefulness of this system, we have explored potential genes which may interact with a MLL2 gene which was recently found to underlie Kakubi syndrome. Furthermore, clinical features of a new syndrome identified from the literature have been input and compared with the PhenOMIM list of syndromes, by which the usefulness of this work was assessed, and a differential diagnosis was made. We expect this software will be of substantial value for doctors as well as researchers in the field of genetic diseases.