CHDGKB

CHDGKB curates genetic variation data associated with non-syndromic congenital heart disease (NS-CHD) to support research into the molecular etiology and genotype–phenotype relationships of CHD.

Key Features:

• Variant collection: 5,345 NS-CHD-associated genetic variations extracted from PubMed-indexed publications since 1998 via manual literature extraction and analysis.
• Coverage of CHD subtypes: Genetic variants linked to 370 subtypes of human congenital heart disease.
• Manual curation: Each database entry is manually curated to ensure data quality and reliability.
• Support for molecular analyses: Provides curated variant data to enable systematic analyses of NS-CHD pathogenesis and genotype–phenotype correlations.

Scientific Applications:

• Molecular pathogenesis studies: Enables analysis of genes and variants implicated in NS-CHD at the molecular level.
• Genotype–phenotype correlation: Facilitates studies correlating specific genetic variants with clinical NS-CHD subtypes.
• Variant interpretation for research and diagnostics: Supplies curated variant information to inform interpretation of human variants in diagnostic and therapeutic research contexts.

Methodology:

Variants were collected by manual literature extraction and analysis from publications indexed in PubMed since 1998.