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Rare Disease Data Center
Accelerating Biomedical Research with an AI-Powered Database of Disease Genes, Mutations, and Animal Models.
Recommanded Tools
Pathogenicity Predictor
AI tool for predicting the pathogenicity of gene mutations at any location
RNA Splicer
AI tool for predicting the impact of gene mutations at any location on RNA splicing sites
Sequence Alignment
Compare nucleotide or amino acid sequence similarities
Mutation Direct
Perform joint or cross searches for mutations, genes, and diseases
Sequence Viewer
Access detailed information on cDNA, RNA transcripts, and corresponding protein sequences for specific genes
Effortlessly Master Rare Disease Knowledge with
Advanced Data Visualization
Rare Disease Data Center (RDDC), co-established by Artificial Intelligence Innovation Center of the Research Institute of Tsinghua, Pearl River Delta and Cyagen Biosciences, integrates open-source data from both domestic and international sources, including epidemiology, drug development, disease-related gene maps, gene mutation sites, and mouse models.
Using genetic big data with AI and bioinformatics technology, RDDC offers AI tools like Pathogenicity Predictor and RNA Splicer, aiming to significantly advance research on rare diseases.
Timely Updated
The database is regularly updated to ensure accuracy and timeliness.
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Data Visualization
Large-scale data is transformed into visual images to facilitate the observation of connections and trends.
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Data Simplification
Large datasets are condensed and key information is highlighted for easier analysis.
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All-in-One Access
Easily find data on rare diseases, genes, and animal models all in one place.
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News and Updates
Genetic Encyclopedia
BIPF Mouse & Ism1Gene
What Is the BIPF Mouse? Understanding the IPF “Gold-Standard” Model and Key Gene ISM1
November 18, 2025
Frontiers
Mastocytosis
Orphanet Journal of Rare Diseases | French Guidelines for the Management of Nonadvanced Mastocytosis in Adults
November 07, 2025
Industry Insights
Genetic Disease Research & AI Bioinformatics
AI-Empowered Breakthroughs in Genetic Disease Research: Industry Pain Points and RDDC Solutions
November 26, 2025
Case Studies
RDDC RNA Splicer & TCF4
RDDC Tool Decodes TCF4 3'UTR Variant in PTHS
October 23, 2025