GeneLookup gathers monogenic gene-disease associations and related information from the following sources and provides a brief AI summary of their phenotype descriptions:

OMIM, ClinGen, GenCC, PanelApp UK, PanelApp Australia, DECIPHER, ClinVar, GWAS Catalog, Fridman et al. 2025, and gnomAD constraint metrics

Features:

• Search by gene name, genomic region, disease name, or phenotype
• Filter by inheritance mode, data source, constraint scores, ClinGen classification, or other structured fields
• Export search results to TSV, BED, or JSON
• Use IGV.js to explore gene regions alongside reference tracks

All source code is available on GitHub. For questions or comments, email weisburd@broadinstitute.org or open an issue.