Mapping human disease-associated enzymes into Reactome allows characterization of disease groups and their interactions
Abstract According 3 Piece King Storage Bed to databases such as OMIM, Humsavar, Clinvar and Monarch, 1494 human enzymes are presently associated to 2539 genetic diseases, 75% of which are rare (with an Orphanet code).The Mondo ontology initiative allows a standardization of the disease name into specific codes, making it possible a computational a