scholarly journals Genetic variations of ISL1 associated with human congenital heart disease in Chinese Han people

2014 ◽  
Vol 13 (1) ◽  
pp. 1329-1338 ◽  
Author(s):  
Z.L. Luo ◽  
H. Sun ◽  
Z.Q. Yang ◽  
Y.H. Ma ◽  
Y. Gu ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Genetic Variations ◽  
Chinese Han ◽  
Chinese Han People

scholarly journals CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease

Database ◽  
2020 ◽  
Vol 2020 ◽  
Author(s):  
Lan Yang ◽  
Yang Yang ◽  
Xingyun Liu ◽  
Yongquan Chen ◽  
Yalan Chen ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Molecular Level ◽  
Genetic Research ◽  
Genetic Variations ◽  
Online Database ◽  
The Public ◽  
Genetic Origins ◽  
Systematic Understanding

Abstract 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/

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