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DisGeNET is a comprehensive discovery platform designed to address a variety of questions concerning the genetic underpinning of human diseases. DisGeNET contains over 380,000 associations between >16,000 genes and 13,000 diseases, which makes it one of the largest repositories currently available of its kind. DisGeNET integrates expert-curated databases(More)
Corpora with specific entities and relationships annotated are essential to train and evaluate text-mining systems that are developed to extract specific structured information from a large corpus. In this paper we describe an approach where a named-entity recognition system produces a first annotation and annotators revise this annotation using a web-based(More)
Current biomedical research needs to leverage and exploit the large amount of information reported in scientific publications. Automated text mining approaches, in particular those aimed at finding relationships between entities, are key for identification of actionable knowledge from free text repositories. We present the BeFree system aimed at identifying(More)
DisGeNET is a database that aims at integrating the current knowlege in gene-disease associations (GDA) from open curated data sources (UniProt, CTD, GAD, MGD) and the literature by text-mining. The DisGeNET conversion to RDF aims at extending the Linking Open Data Cloud (LOD) with GDA-centric data to foster the development of new Semantic Web (SW)(More)
OBJECTIVE To characterize proacrosin/acrosin interaction with isolated zona pellucida (ZP) components. DESIGN Prospective study. SETTING Basic research laboratory. PATIENT(S) Recombinant proteins derived from human proacrosin (Rec-40, Rec-30, Rec-20, Rec-10, and Rec-6) and from human ZP glycoproteins (rec-hZPA, ZPB, and ZPC). INTERVENTION(S) In(More)
UNLABELLED DisGeNET is a plugin for Cytoscape to query and analyze human gene-disease networks. DisGeNET allows user-friendly access to a new gene-disease database that we have developed by integrating data from several public sources. DisGeNET permits queries restricted to (i) the original data source, (ii) the association type, (iii) the disease class or(More)
Drug safety issues pose serious health threats to the population and constitute a major cause of mortality worldwide. Due to the prominent implications to both public health and the pharmaceutical industry, it is of great importance to unravel the molecular mechanisms by which an adverse drug reaction can be potentially elicited. These mechanisms can be(More)
OBJECTIVE To detect the presence of antibodies to the proacrosin/acrosin system and to evaluate their effect on the sperm acrosomal protein activities in women consulting for infertility. DESIGN Retrospective study. SETTING Basic research laboratory. PATIENT(S) Recombinant proteins derived from human proacrosin (Rec-40, Rec-30, Rec-20, Rec-10) and(More)
The Semanticscience Integrated Ontology (SIO) is an ontology to facilitate biomedical knowledge discovery. SIO features a simple upper level comprised of essential types and relations for the rich description of arbitrary (real, hypothesized, virtual, fictional) objects, processes and their attributes. SIO specifies simple design patterns to describe and(More)
Acrosin is an acrosomal protease synthesized as a proenzyme and activated into beta-acrosin during the acrosome reaction. In the present study, a set of sensitive assays was developed to identify the proacrosin/acrosin system and to evaluate its activation pattern in human sperm extracts. Immunocytochemical analysis with monoclonal antibody (Mab) AcrC5F10(More)