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.
Literature AI now includes latest MEDLINE information up to Mar 06, 2025.
Currently, we provide results for diseases with known gene associations, and we encourage you to periodically check-in as we make progress to incorporate all known rare diseases.
Please contact us if you do not find a particular rare genetic disease, or if there are issues with the current results.
Please select a gene from the dropdown below to perform your search. You can type to search for a specific gene, or select one from the list provided.
Clicking "See Gene-Disease Co-occurrence" will display literature for the gene and all known associated diseases.
We have automatically selected the gene "SLC6A8" as a default to demonstrate the features of the Literature AI Genes interface.
Please select a disease from the dropdown below. You can type to search, or select from the list of values provided.
Clicking "See Disease-Gene Co-occurrence" will display literature for the disease and all known associated genes.
We have automatically selected the disease "X-linked creatine transporter deficiency" as a default to demonstrate the features of the Literature AI Diseases interface.
1 Indicate whether your search will start with a gene, or with a disease.
2 Type to search, or select from the list of genes or diseases provided.
3 Select one or more values from the list of all known genes/diseases related to your selection in step 2, then click "Display".
As a default, "Genes" is selected in 1, "SLC6A8" selected as the gene in 2, and "X-linked creatine transporter deficiency" the disease in 3, to demonstrate the features of the Literature AI Gene Disease Co-occurrence interface.