Unlocking Human Gene-Disease Associations with GeDiPNet

GeDiPNet is an open access, unified database on human Gene Disease Pathway Networks. Gene-disease associations within GeDiPNet are compiled from multiple authoritative sources, including DisGeNET, ClinGen, ClinVar, GenCC, GWAS Catalog, CBGDA (CRISPR-Based Gene-Disease Associations), the Human Phenotype Ontology (HPO), OrphaNet, PsyGeNET, and textmining. Manually curated to reduce redundancy and minimize data loss. Similar or sub-type disease names are merged into unique terms for efficient analysis.

GeDiPNet offers interlinked data on human genes, single nucleotide polymorphisms (SNPs), diseases, and biological pathways. For each human gene, the database provides high-level annotated information such as gene synonyms, chromosomal location, expression profiles, gene ontology terms, protein-related data, associated SNPs, diseases, and pathways.

GeDiPNet classifies gene-disease associations into two primary categories based on evidence strength. Causal associations represent relationships confirmed through reported pathogenic genetic variants with evidence from ClinVar datasets, while unknown associations include non-pathogenic genetic associations from ClinVar along with associations from GenCC, GWAS Catalog, CBGDA, HPO, OrphaNet, and PubMed text-mining. The data and algorithms available in GeDiPNet can be used for high-throughput analysis that can lead to novel insights and hypothesis generation on gene-disease associations and identification of polypharmacological targets.

Citation: Kundu I, Sharma M, Barai RS, Pokar K, Idicula-Thomas S. GeDiPNet: Online resource of curated gene-disease associations for polypharmacological targets discovery. Genes & Diseases, 2023. https://doi.org/10.1016/j.gendis.2022.05.034