作者
Xia Ran, Jinchen Li, Qianzhi Shao, Huiqian Chen, Zhongdong Lin, Zhong Sheng Sun, Jinyu Wu
发表日期
2015/1/28
期刊
Nucleic acids research
卷号
43
期号
D1
页码范围
D893-D899
出版商
Oxford University Press
简介
Epilepsy is one of the most prevalent chronic neurological disorders, afflicting about 3.5–6.5 per 1000 children and 10.8 per 1000 elderly people. With intensive effort made during the last two decades, numerous genes and mutations have been published to be associated with the disease. An organized resource integrating and annotating the ever-increasing genetic data will be imperative to acquire a global view of the cutting-edge in epilepsy research. Herein, we developed EpilepsyGene (http://61.152.91.49/EpilepsyGene). It contains cumulative to date 499 genes and 3931 variants associated with 331 clinical phenotypes collected from 818 publications. Furthermore, in-depth data mining was performed to gain insights into the understanding of the data, including functional annotation, gene prioritization, functional analysis of prioritized genes and overlap analysis focusing on the comorbidity. An intuitive …
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