Features:

• Search genes by name, disease, genomic region, or various gene-disease association attributes
• Filter by inheritance mode, data source, constraint scores, ClinGen classification, and more
• Export search results to TSV, BED, or JSON
• Use IGV.js to explore gene regions alongside reference tracks

Gene Lookup aggregates gene-disease association data from multiple curated sources including OMIM, ClinGen, GenCC, PanelApp (UK and Australia), DECIPHER, ClinVar, and Fridman et al. 2025. It combines these with gene constraint metrics from gnomAD v4 and AI-generated phenotype summaries to provide a unified view for rare disease analysis.

Source code is available on GitHub.

For questions or feedback, please open an issue or email weisburd@broadinstitute.org