Browse Literature Associated With Genes & Rare Diseases

Rare disease and genes are continuously being added to LitAI 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. Results in the ‘Gene-Disease Co-occurrence’ category are limited as the feature looks for both gene and disease mentions. We recommend 'Diseases' and 'Genes' tabs for finding rare disease related articles of interest.

Notifications & Updates
Literature AI now includes latest MEDLINE information up to Jan 23, 2026.
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.

Literature Search Results for Genes
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.

Select a Gene:

Literature Search Results for Diseases
Please search for a disease from the dropdown below and then 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 "Creatine Transporter Deficiency" as a default to demonstrate the features of the Literature AI Diseases interface.

Select a Disease:

Begin typing at least 3 characters to search.

Literature Search Results for Gene-Disease Co-occurrence
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 "Creatine Transporter Deficiency" the disease in 3, to demonstrate the features of the Literature AI Gene-Disease Co-occurrence interface.

1 Start with:

Genes Diseases

2 Select Gene: 3 Select Disease: 2 Select Disease: 3 Select Gene: