# Editome Disease Knowledgebase v2.0: an updated resource of editome–disease associations through literature curation and integrative analysis

**Authors:** Tongtong Zhu, Yuan Chu, Guangyi Niu, Rong Pan, Ming Chen, Yuanyuan Cheng, Yuansheng Zhang, Zhao Li, Shuai Jiang, Lili Hao, Dong Zou, Tianyi Xu, Zhang Zhang

PMC · DOI: 10.1093/bioadv/vbaf012 · Bioinformatics Advances · 2025-01-25

## TL;DR

EDK v2.0 is an updated database linking RNA editing changes to human diseases, offering new data and tools for researchers.

## Contribution

The paper introduces EDK v2.0, which includes expanded disease associations, RNA editing profiles, and new annotations from literature and analysis.

## Key findings

- EDK v2.0 includes 1097 curated editome–disease associations from 321 publications.
- It provides RNA editing profiles from 48 datasets covering 2536 samples across 55 diseases.
- The database identifies 7190 differential edited genes and 86,242 differential editing sites.

## Abstract

Editome Disease Knowledgebase (EDK) is a curated resource of knowledge between RNA editome and human diseases. Since its first release in 2018, a number of studies have discovered previously uncharacterized editome–disease associations and generated an abundance of RNA editing datasets. Thus, it is desirable to make significant updates for EDK by incorporating more editome–disease associations as well as their related editing profiles.

Here, we present EDK v2.0, an updated version of editome–disease associations based on both literature curation and integrative analysis. EDK v2.0 incorporates a curated collection of 1097 editome–disease associations involving 115 diseases from 321 publications. Meanwhile, based on a standardized pipeline, EDK v2.0 provides RNA editing profiles from 48 datasets covering 2536 samples across 55 diseases. Through differential analysis on RNA editing, it further identifies a total of 7190 differential edited genes and 86 242 differential editing sites (DESs), leading to 266 339 DES–disease associations. Moreover, a curated list of 28 160 cis-RNA editing QTL associations, 458 187 DES–RNA binding protein associations, and 21 DES–RNA secondary structure associations are annotated and added to EDK v2.0. Additionally, it is equipped with a series of user-friendly tools to facilitate RNA editing online analysis.

https://ngdc.cncb.ac.cn/edk/.

## Full-text entities

- **Genes:** DES (desmin) [NCBI Gene 1674] {aka CDCD3, CSM1, CSM2, LGMD1D, LGMD1E, LGMD2R}
- **Diseases:** Editome Disease (MESH:D004194)

## Full text

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## Figures

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## References

50 references — full list in the complete paper: https://tomesphere.com/paper/PMC11835235/full.md

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Source: https://tomesphere.com/paper/PMC11835235