数据库名称:CHDbase
数据库简述:A Comprehensive Knowledgebase for Congenital Heart Disease-related Genes and Clinical Manifestations
所属国家/地区:China
数据库主要信息:We therefore developed CHDbase, an evidence-based knowledgebase of CHD-related genes and clinical manifestations manually curated from 1114 publications, linking 1124susceptibility genes and 3591 variations to more than 300 CHD types and related syndromes. Metadata such as the information of each publication and the selected population and samples, the strategy of studies, and the major findings of studies were integrated with each item of the research record. We also integrated functional annotations through parsing ∼ 50 databases/tools to facilitate the interpretation of these genes and variations in disease pathogenicity.
建立年份:2022
联系信息:Contact information
University/Institution:
Chinese Academy of Medical Sciences and Peking Union Medical College
Address:
State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Center of Laboratory Medicine, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College
City:
Province/State:
Country/Region:
China
Contact name (PI/Team):
Zhou Zhou
Contact email (PI/Helpdesk):
zhouzhou@fuwaihospital.org