RDDC Rare Disease Database | Facilitating research on genetic diseases, pathogenic genes and disease models

Comparison

Al agent

Sources

Rare Disease Data Center

Accelerating Biomedical Research with an AI-Powered Database of Disease Genes, Mutations, and Animal Models.

COL4A5 c.1390G>A ALS1 DMD c.1332-11868C>G TP53 Amyotrophic Lateral Sclerosis 1 USH2A c.8559-2A>G Cystic Fibrosis

21933

63942

2.3Million

116087

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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.