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Updated: Jan 28, 2026

The ITS2 Database
Published on: March 12, 2012
EnDisease: a manually curated database for enhancer-disease associations
Wanwen Zeng1, Xu Min2, Rui Jiang1
1MOE Key Laboratory of Bioinformatics; Bioinformatics Division and Center for Synthetic & Systems Biology, Department of Automation, Tsinghua University, Beijing, China.
Researchers created EnDisease, a database of enhancer-disease associations, to understand non-coding variants in complex diseases. This resource aids in exploring genetic links between enhancers and diseases, improving molecular mechanism research.
Area of Science:
- Genomics
- Molecular Biology
- Computational Biology
Background:
- Genome-wide association studies (GWAS) have identified numerous genetic loci linked to complex traits.
- Over 90% of disease-associated variants are in non-coding DNA, posing challenges for functional interpretation.
- Emerging evidence suggests complex diseases arise from aberrant enhancer-gene interactions.
Purpose of the Study:
- To consolidate experimentally supported enhancer-disease associations into a centralized resource.
- To facilitate downstream analysis and research into the functional roles of enhancers in complex diseases.
- To develop a manually curated database, EnDisease, for comprehensive data access.
Main Methods:
- Collected and curated enhancer-disease associations from 199 scientific articles.
- Developed the EnDisease database, documenting 535 associations between 133 diseases and 454 enhancers.
- Annotated enhancers using 649 human and 115 mouse DNase-seq experiments.
Main Results:
- The EnDisease database provides a user-friendly interface for browsing, searching, and downloading data.
- Analysis revealed that cancer-associated enhancers are frequently open across diverse cell types.
- The database contains 535 experimentally validated enhancer-disease associations.
Conclusions:
- EnDisease serves as a valuable resource for researchers investigating the role of enhancers in complex diseases.
- The findings highlight the potential of enhancer annotations in understanding disease etiology.
- The database supports further exploration of molecular mechanisms underlying enhancer-disease links.
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