Integrated Bioinformatics Resource for Rare Diseases

Publications Overview

Overview

Gene and disease research published in peer reviewed manuscripts can be missed because of the research being referenced using alternate names or symbols. Lit Ai uses Artificial intelligence (AI) models to scan titles and abstracts of biomedical publications for mentions of rare diseases and associated genes, integrating results with disease aliases and gene synonyms. Charts summarize trends over time and across journals. Use the tabs below to view results for Genes, Diseases, or Co-occurrence.

*Data are provided for research purposes only and are not intended for clinical use.

Browse Gene-Focused Publications

Gene mentions are identified in titles and abstracts. Charts provide insights into how frequently rare disease–related genes appear in published studies, helping researchers identify which genes are most studied, when interest in them has peaked, and where further exploration may be needed.

Select or Search for a Gene Symbol:

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Browse Disease-Focused Publications

Disease mentions are identified in titles and abstracts, independent of specific genetic context. The results allow researchers to trace the trajectory of disease-focused publications, observe shifts in research priorities, and identify under-studied conditions.

Search for a Disease:

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Browse Gene–Disease Co-occurrence Publications

Publications where both a rare disease and an associated gene are mentioned in the title or abstract. Because the AI search is looking for both disease and gene mentions, results here are more constrained; for broader discovery, start with the Genes or Diseases tabs.

Find co-occurring publications:

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