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.
Non-syndromic CHD genetic knowledgebase (CHDGKB) has several distinct characters as follows:
1) Represents the comprehensive research synopsis in the field of NS-CHD genetics;
2) All the entries in CHDGKB are comprehensively annotated, including CHD type (ID, type, description), information of genetic variation (ID, Patient ID, Type, Gene Symbol, Gene ID, Sequence ID, Gene Mutation, rsID, Location, Region, OMIM, Treat_MAF, Control_MAF, Amino Acid Variation_description, Inheritance, Sample_Data, Summary), sample information (ID, Population, Region, Source, Method, Treat_Age, Control_Age, Treat_Number, Control_ Number), reference information (Pubmed, Year, ID title);
3) CHDGKB provides an interactive platform for the public to screen and share the research results related to genetic variations associated with non-syndromic congenital heart disease;
4) To provide homogeneous results from the statistical analysis of data, which help us to give effective and systemic analyses about the relations between genotypes and phenotypes of NS-CHD.
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Yang L, Yang Y, Liu X, Chen Y, Chen Y, Lin Y, Sun Y, Shen B. CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease. Database (Oxford). 2020 Jan 1;2020:baaa048. doi: 10.1093/database/baaa048. PMID: 32608479.