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DisGeNET
DisGeNET is a discovery platform designed to address a variety of questions concerning the genetic underpinning of human diseases. DisGeNET is one of the largest and comprehensive repositories of human gene-disease associations (GDAs) currently available. It also offers a set of bioinformatic tools to facilitate the analysis of these data by different user profiles. It is maintained by the (Integrative Biomedical Informatics (IBI) Group ), of the (GRIB)-IMIM/UPF, based at the Barcelona Biomedical Research Park (PRBB), Barcelona, Catalonia, Spain.
==Scope and access==
In the pursuit to gather different aspects of the current knowledge on the genetic basis of human diseases, DisGeNET covers information on all disease areas (Mendelian, complex and environmental diseases). With more than 400 000 genotype-phenotype relationships from different origins integrated and annotated with explicit provenance and evidence information, DisGeNET is a valuable knowledge and evidence-based discovery resource for Translational Research.
DisGeNET is an open access resource that makes available a comprehensive knowledge base on disease genes and different tools for their exploitation and analysis. DisGeNET is available through a (Web interface ), a Cytoscape plugin, as linked data for the Semantic Web, and supports programmatic access to its data. These valuable set of tools allows investigating the molecular mechanisms underlying diseases of genetic origin, and are designed to support the data exploitation from different perspectives and to fulfill the needs of different types of users, including bioinformaticians, biologists and healthcare practitioners.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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