# Gene-related diseases

The Gene-related diseases card lists known disease associations for the gene or genes affected by the variant. If the variant affects multiple genes, the list shows associations for each gene.

## Information displayed

### Each disease entry includes:

* **Disease name**

  As defined in gene-disease connection source(s)
* **Source links**:
  * OMIM
  * Academic papers included in the Emedgene knowledge graph
  * CGD
  * Orphanet
  * GenCC (v100.39.0+)
* **Inheritance modes**

  Displayed per source when available. Not shown for Orphanet

### Disease entry may additionally include:

* **Monarch link** (v100.39.0+)\
  Redirects to the disease entry in the Mondo Disease Ontology supported by The Monarch Initiative.
* **GenCC badge** (v100.39.0+)\
  Diseases with one or more entries in the GenCC (Gene Curation Coalition) database display a badge next to the disease name. This badge represents the **highest-level gene–disease connection validity classification**.\
  If multiple GenCC entries exist for the same gene–disease connection, a “+n” indicator appears beside the badge. Hovering over this indicator reveals the additional classifications and their sources.

{% hint style="info" %}
**Note:**

GenCC is included as a gene–disease source starting with [Emedgene knowledge base version 82](https://help.emg.illumina.com/release-notes/knowledgebase_updates/2025/zoidberg-82-21st-october-2025).

To view GenCC annotations in the UI, you must use [platform version 100.39.0](https://help.emg.illumina.com/release-notes/workbench-and-pipeline-updates/new-in-emedgene-v100_39_0-october-16th-2025) or later.

On older platform versions, the GenCC validity badge and submitter details are not displayed, and GenCC links are inactive.
{% endhint %}

## Disease selection

Once a variant is tagged, a default disease is automatically selected. Users have the following options:

* **Leave the default disease**
* **Select a different disease** from the available list of diseases
* **Add a custom disease name**

The selected disease appears in the Gene-related diseases card of the [Summary tab](/emedgene/emedgene-analyze-manual/variant_page/summary_section.md), as well as on the [Evidence page](/emedgene/emedgene-analyze-manual/reviewing_a_case/evidence_page.md), and can be included in the [report](/emedgene/emedgene-analyze-manual/case-completion-and-reporting/clinical_report.md).

{% hint style="warning" %}
Verify your disease selection before completing the report to ensure accurate evidence graph, phenotype matching, and consistent Curate data.
{% endhint %}

### Selecting a different disease

{% stepper %}
{% step %}
Click Edit.
{% endstep %}

{% step %}
Select a different disease.
{% endstep %}

{% step %}
Click Save.
{% endstep %}
{% endstepper %}

The evidence graph will update automatically to reflect the new disease association.

The change will be recorded in the Activity Log.

### Adding a custom disease

{% stepper %}
{% step %}
Click Edit.
{% endstep %}

{% step %}
Click the <i class="fa-plus-large">:plus-large:</i> button on the top right of the card.
{% endstep %}

{% step %}
Enter your custom disease name.
{% endstep %}

{% step %}
Click Save.
{% endstep %}
{% endstepper %}

Custom disease name will be stored in the case only. If you export the variant to Curate, no disease will be saved in Curate for that variant.


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