Table 1.

Comparison with existing databases

	CHDbase	CHD-RF-KB (up to 10 January 2020)	ClinVar (up to 10 January 2020)	HGMD (up to 10 January 2020)
Data source	Manually curated	Manually curated	User submitted	Manually curated
Target disease	Syndromic CHD, nonsyndromic CHD	Nonsyndromic CHD	A wide range of diseases	A wide range of diseases
No. of publications	1114	305	163	445
Evidence type	Genetic association, SNV/Indel, Expression, CNV, Linkage, and Other	Genetic association, SNV/Indel, CNV, and Methylation	Genetic association, SNV/Indel, and CNV	Genetic association and SNV/Indel
No. of genes	1145 (1124 CHD susceptibility genes and 21 negative genes)	303	53	874
No. of variations	2585 SNVs/Indels, 1006 CNVs	1194 SNVs/Indels, 567 CNVs	760 SNVs/Indels, 14 CNVs	2152 SNVs/Indels
Collected information	Publication, population, study design, result, and sample information	Publication, result, and sample information	Publication and result information	Publication and result information
Annotation	Gene annotation and variation annotation	Variation annotation	Variation annotation	None
Data analysis	Expression profile, functional enrichment, and CHD classification	Functional enrichment	None	None

Note: CHD, congenital heart disease; SNV, single nucleotide variant; CNV, copy number variation; Indels, insertion-deletion variants; HGMD, the Human Gene Mutation Database.