ArticleNucleic acids research2024
The DO-KB Knowledgebase: a 20-year journey developing the disease open science ecosystem.
Article in Nucleic acids research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed.
- Mediterranean Diet Modulation of Neuroinflammation-Related Genes in Elderly Adults at High Cardiovascular Risk.Nutrients · 2024Trial
- VITAGRAPH: building a knowledge graph for biologically relevant learning tasks.Scientific data · 2026Article
- Differential assembly of mouse and human tumor microenvironments.Nature immunology · 2026Article
- Article
- Genetics-mediated regulation of intestinal gene expression on microbiome contributes to human disease heritability.Molecular systems biology · 2026Article
- Benchmarking large language models for pathogen-disease classification in post-acute infection syndromes.Briefings in bioinformatics · 2026Article
- RBP2GO 2.0: Integrating disease associations and sequence features to explore RNA-binding protein functions.Nucleic acids research · 2026Article
- DeepSpaceDB: a spatial transcriptomics atlas for interactive in-depth analysis of tissues and tissue microenvironments.Nucleic acids research · 2026Article
- gutMSNP: a comprehensive database for human gut microbial single-nucleotide polymorphisms.Nucleic acids research · 2026Article
- The DO-KB knowledgebase 2026 update: expanding programmatic and language access.Nucleic acids research · 2026Article
- SmallBARNA 2026: a kingdom-wide bacterial sRNA resource.Nucleic acids research · 2026Article
- Enhanced TLR7-induced interferon responses in women living with HIV.Frontiers in immunology · 2026Article
- MSICKB: A Curated Knowledgebase for Exploring Molecular Heterogeneity and Biomarker Prioritization in Microsatellite Instability Cancers.Computational and structural biotechnology journal · 2026Article
- Xenbase: A Guide to the Xenopus Genetics and Genomics Knowledgebase.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Utilizing Large Language Models for Zero-Shot Medical Ontology Extension from Clinical Notes.Proceedings. IEEE International Conference on Bioinformatics and Biomedicine · 2025Article
- Benchmarking Transformer Embedding Models for Biomedical Terminology Standardization.Machine learning with applications · 2025Article
- Quantifying compatibility mechanisms in traditional Chinese medicine with interpretable graph neural networks.Journal of pharmaceutical analysis · 2025Article
- Deciphering cancer therapy resistance via patient-level single-cell transcriptomics with CellResDB.Communications biology · 2025Article
- Cell Marker Accordion: interpretable single-cell and spatial omics annotation in health and disease.Nature communications · 2025Article
- Cell Marker Accordion: interpretable single-cell and spatial omics annotation in health and disease.bioRxiv : the preprint server for biology · 2025Article
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Authors and funding
14 authors.
Funding
Abstract
In 2003, the Human Disease Ontology (DO, https://disease-ontology.org/) was established at Northwestern University. In the intervening 20 years, the DO has expanded to become a highly-utilized disease knowledge resource. Serving as the nomenclature and classification standard for human diseases, the DO provides a stable, etiology-based structure integrating mechanistic drivers of human disease. Over the past two decades the DO has grown from a collection of clinical vocabularies, into an expertly curated semantic resource of over 11300 common and rare diseases linking disease concepts through more than 37000 vocabulary cross mappings (v2023-08-08). Here, we introduce the recently launched DO Knowledgebase (DO-KB), which expands the DO's representation of the diseaseome and enhances the findability, accessibility, interoperability and reusability (FAIR) of disease data through a new SPARQL service and new Faceted Search Interface. The DO-KB is an integrated data system, built upon the DO's semantic disease knowledge backbone, with resources that expose and connect the DO's semantic knowledge with disease-related data across Open Linked Data resources. This update includes descriptions of efforts to assess the DO's global impact and improvements to data quality and content, with emphasis on changes in the last two years.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.