How do I use the Enrichment Analysis tool?

The Disease Enrichment Analysis tool is available for DISGENET users on the Standard and Advanced plans.

You can access it directly from the DISGENET Home page, using the “Enrichment” button located just above the main search bar.

This feature allows you to interpret gene or variant lists in seconds by identifying significantly associated diseases and phenotypes — without any coding or external tools.

How to Run a Disease Enrichment Analysis

Once you open the tool, you’ll see the input panel where you can paste a list of genes or variants.

1. Choose Whether You’re Analyzing Genes or Variants

At the top of the Enrichment page, you must select the input type:

• GENES
• VARIANTS

Important:

• Gene enrichment supports multiple identifier types (Gene Symbol, Ensembl ID, UniProt ID, NCBI Gene ID).

• Variant enrichment supports only one identifier type: rs number (dbSNP ID).

Choose the correct input category before moving to the next step.

2. Select the Identifier Type (Genes Only)

If you selected GENES, you will see a dropdown list of supported identifiers:

• Gene Symbol

• Ensembl ID

• UniProt ID

• NCBI Gene ID

Pick the identifier type that matches your dataset.

If you selected VARIANTS, this step is skipped because only rs numbers are accepted.

3. Paste your list

Paste your list, one item per line, in the input field.

Example (variants):
rs123
rs345
rs9081

4. Run the Enrichment Analysis

A window will appear to select the parameters.

Adjust the parameters and click Run Enrichment.

DISGENET will compute:

• Significantly enriched diseases

• p-values and enrichment statistics

• The intersection between the entities in your list and the enriched diseases

After this, you can download the table and the visualization as PNG

No coding, scripting, or preprocessing needed.

5. Explore and Export Your Results

After running the analysis, you can:

• Review disease associations ranked by significance

• Inspect in DISGENET the supporting GDA/VDA evidence

• Use findings to validate hypotheses, interpret omics data, or guide target discovery

This tool is especially useful for:

• RNA-seq or proteomics hit lists

• CRISPR screening output

• GWAS variant sets

• Patient-derived variant lists

• Gene panels and biomarker discovery