P53 description_1(OMIM: id);description_2(OMIM: id);etc ... cn_description_1(OMIM: id);cn_description_2(OMIM: id);etc ... Due to the difference of annotation ...

Gene mutation (e.g. substitution, insertion and deletion) and related phenotype information are important biomedical knowledge. Many biomedical databases (e.g. OMIM) incorporate such data. However, ...

The Genomic Oligoarray and SNP Array Evaluation Tool 3.0 matches candidate genes within regions of homozygosity with a patient’s phenotype, by mining OMIM for gene entries that contain a Clinical ...

Abstract: 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 ...

Analysis of scientific and clinical phenotypes reported in the experimental literature has been curated manually to build high-quality databases such as the Online Mendelian Inheritance in Man (OMIM).

Abstract: Phenotypic comparison may provide crucial information for obtaining insights into molecular interactions underlying various diseases. However, few attempts have been made to systematically ...

ABSTRACT: Discovering genetic basis of diseases is an important goal and a challenging problem in bioinformatics research. Inspired by network-based global inference approach, Semi-global inference ...