eDGAR

eDGAR compiles gene–disease associations from OMIM, Humsavar, and ClinVar and integrates functional, structural, regulatory, and network annotations to support analysis of genetic contributions to diseases.

Key Features:

• Comprehensive Data Compilation: Contains 2,672 diseases associated with 3,658 genes totaling 5,729 gene–disease associations.
• Multigenic Disease Focus: About 71% of cataloged genes are linked to 621 multigenic diseases and the database highlights shared Gene Ontology (GO) terms, KEGG and REACTOME pathways, physical interactions, and regulatory networks among associated genes.
• Functional and Structural Annotations: Includes interaction data from PDB, BIOGRID, and STRING; identifies gene co-occurrence in structural complexes; reports shared GO annotations and KEGG/REACTOME pathways; and provides enriched functional annotations via NET-GE.
• Regulatory Interactions: Includes regulatory interactions derived from TRRUST.
• Genomic Localization: Provides gene chromosomal localization and co-localization information within neighboring loci.
• Network-Based Enrichment Method: Implements a network-based enrichment method to detect statistically significant functional terms associated with groups of genes.

Scientific Applications:

• Disease Network Analysis: Facilitates identification and analysis of gene networks involved in disease pathogenesis.
• Multigenic Disease Studies: Supports studies of multigenic diseases through interaction maps and shared functional annotations.
• Therapeutic Target Exploration: Enables exploration of potential therapeutic targets by revealing molecular interplay among disease-associated genes.

Methodology:

Integrates curated associations from OMIM, Humsavar, and ClinVar; imports interactions from PDB, BIOGRID, and STRING and regulatory interactions from TRRUST; uses GO, KEGG, and REACTOME for functional annotations and applies NET-GE alongside a network-based enrichment approach to identify enriched functional terms.