RDBridge: a knowledge graph of rare diseases based on large-scale text mining.

RDBridge: a knowledge graph of rare diseases based on large-scale text mining.

Publication date: Jul 17, 2023

Despite low prevalence, rare diseases affect 300 million people worldwide. Research on pathogenesis and drug development lags due to limited commercial potential, insufficient epidemiological data, and a dearth of publications. The unique characteristics of rare diseases, including limited annotated data, intricate processes for extracting pertinent entity relationships, and difficulties in standardizing data, represent challenges for text mining. We developed a rare disease data acquisition framework using text mining and knowledge graphs and constructed the most comprehensive rare disease knowledge graph to date, Rare Disease Bridge (RDBridge). RDBridge offers search functions for genes, potential drugs, pathways, literature, and medical imaging data that will support mechanistic research, drug development, diagnosis, and treatment for rare diseases. RDBridge is freely available at http://rdb. lifesynther. com/. Supplementary data are available at Bioinformatics online.

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Concepts Keywords
Drugs Affect
Epidemiological Based
Graphs Data
Lifesynther Diseases
Mining Drug


Type Source Name
disease MESH rare diseases
disease MESH pathogenesis
drug DRUGBANK Coenzyme M
drug DRUGBANK Ethionamide
disease MESH undiagnosed disease
disease MESH skin diseases
disease MESH amyotrophic lateral sclerosis
drug DRUGBANK Aspartame
drug DRUGBANK Trifluoro-thiamin phosphate

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