Abstract
Multifunctional genes possess special significance due to their role in multiple biological and molecular activities in many organisms. In this paper, we study multifunctional genes in human with gene functional annotations in Gene Ontology, and we utilize the extensive information available for genes related to gene functionalities from the Molecular Function and Biological Process aspects of the Gene Ontology. Specifically, we examine the gene ontology annotations of human genes to assess the gene multifunctionality and their relationship with human diseases. We examined and analyzed all human genes having gene ontology annotations from GOA database and using the OMIM diseases. We combined all OMIM disease genes with the GO annotated human genes in relation to human diseases and the results of the relationships between highly annotated human genes and diseases are highly significant.