DisGeNET

DisGeNET is a discovery platform containing one of the largest collections available of genes and variants involved in human diseases. DisGeNET integrates data from expert curated repositories, GWAS catalogues, animal models, and the scientific literature, and covers the whole landscape of human diseases. The current version of DisGeNET (v7.0) contains 1,134,942 gene-disease associations (GDAs), between 21,671 genes and 30,170 diseases, disorders, traits, and clinical or abnormal human phenotypes, and 369,554 variant-disease associations (VDAs), between 194,515 variants and 14,155 diseases, traits, and phenotypes. The data are homogeneously annotated with controlled vocabularies and community-driven ontologies. Additionally, several original metrics are provided to assist the prioritization of genotype-phenotype relationships. The information is accessible through a web interface, a Cytoscape App, an RDF SPARQL endpoint, a REST API, and an R package.DisGeNET是一款聚焦人类疾病的发现平台，汇集了当前公开可得的规模最大的人类疾病相关基因与变异集合之一。该平台整合了来自经专家人工整理注释的存储库、全基因组关联研究（Genome-Wide Association Study, GWAS）目录、动物模型及科学文献的多源数据，覆盖人类疾病的全领域范畴。当前版本DisGeNET（v7.0）包含1,134,942条基因-疾病关联（gene-disease associations, GDAs），涉及21,671个基因与30,170种疾病、病症、性状及临床或异常人类表型；同时收录369,554条变异-疾病关联（variant-disease associations, VDAs），关联194,515个变异与14,155种疾病、性状及表型。所有数据均采用受控词汇表与社区驱动的本体论完成统一注释。此外，平台还提供多种原创量化指标，用于辅助基因型-表型关联的优先级排序。用户可通过网页界面、Cytoscape插件、RDF SPARQL端点、REST API以及R软件包获取该平台的相关信息。

搜集汇总

背景与挑战

背景概述

DisGeNET是一个大规模基因与疾病关联发现平台，整合了专家库、文献等多源数据，涵盖超过百万条基因-疾病关联和数十万条变异-疾病关联。该平台采用标准化本体和可追溯证据，提供高质量、可互操作的数据，支持生物医学研究与药物发现。