| URL: | http://www.sysbio.org.cn/CHDGKB |
| Full name: | A knowledgebase of non-syndromic congenital heart disease genetic variations |
| Description: | CHDGKB (A knowledgebase of non-syndromic congenital heart disease genetic variations) is a manually curated database of genetic variations associated with non syndromic congenital heart disease. CHDGKB contains a comprehensive information of genetic variations for 370 subtypes of human congenital heart disease reported in pubmed from 1998, which would provide an exhaustive and summary of current status of non-syndromic CHD genetic research that can contribute to better interpret the human variants for illustrating NS-CHD causing variants. The database will be updated about half a year regularly. |
| Year founded: | 2020 |
| Last update: | 2020-01-01 |
| Version: | |
| Accessibility: |
Accessible
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| Country/Region: | China |
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| University/Institution: | Sichuan University |
| Address: | Institutes for Systems Genetics, West China Hospital, Sichuan University, Chengdu 610041, China |
| City: | Chengdu |
| Province/State: | Sichuan |
| Country/Region: | China |
| Contact name (PI/Team): | Bairong Shen |
| Contact email (PI/Helpdesk): | nc.ude.ucs@nehs.gnoriab |
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CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease. [PMID: 32608479]
Congenital heart disease (CHD) is one of the most common birth defects, with complex genetic and environmental etiologies. The reports of genetic variation associated with CHD have increased dramatically in recent years due to the revolutionary development of molecular technology. However, CHD is a heterogeneous disease, and its genetic origins remain inconclusive in most patients. Here we present a database of genetic variations for non-syndromic CHD (NS-CHD). By manually literature extraction and analyses, 5345 NS-CHD-associated genetic variations were collected, curated and stored in the public online database. The objective of our database is to provide the most comprehensive updates on NS-CHD genetic research and to aid systematic analyses of pathogenesis of NS-CHD in molecular level and the correlation between NS-CHD genotypes and phenotypes. Database URL: http://www.sysbio.org.cn/CHDGKB/. |