GeneLookup aggregates monogenic gene-disease info from the following sources:
OMIM, ClinGen, GenCC, PanelApp UK, PanelApp Australia, DECIPHER, ClinVar, GWAS Catalog, Fridman et al. 2025, and gnomAD constraint metrics
It then generates an AI summary of the phenotype descriptions from these different sources.
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.