Integrated Bioinformatics Resource for Rare Diseases

Browse Literature Associated With Genes & Rare Diseases

RARe-SOURCE™ implemented artificial intelligence (AI) algorithms to search the titles and abstracts of published literature for rare disease and/or associated gene mentions. The results from these algorithms are displayed below after integration with disease aliases and different gene naming conventions. The charts display trends in the publications over the years and across journals.

RARe-SOURCE™ is continuing to add information as our efforts are fully aligned and coordinated with ongoing GARD updates.

Genes – literature search results for gene mentions alone
Diseases – literature search results for disease mentions alone
Gene Disease Co-occurrence – literature search results where both the rare disease and associated gene are mentioned. Literature AI only searches titles and abstracts of articles, and results in this ‘Gene Disease Co-occurrence’ category are limited. We recommend 'Diseases' and 'Genes' tabs for finding rare disease related articles of interest.

Select a Gene:
Select a Disease: