> For the complete documentation index, see [llms.txt](https://help.bioinsight.illumina.com/llms.txt). Markdown versions of documentation pages are available by appending `.md` to page URLs; this page is available as [Markdown](https://help.bioinsight.illumina.com/emedgene/emedgene-curate-manual/curate-articles/curate-article-page/gene-disease-connections-card.md).

# Gene-Disease Connections card

## Card contents

The **Gene-Disease Connections card** on the [**Curate Article page**](/emedgene/emedgene-curate-manual/curate-articles/curate-article-page.md) lists the gene–disease connections associated with the article.

Each collapsible row shows the gene, disease, and available inheritance modes. Expand a row to review and manage phenotypes recorded for that connection.

Adding, editing, and deleting connections and phenotypes requires the appropriate [user roles](/emedgene/emedgene-analyze-manual/settings/user_roles.md).

***

## How to add a gene-disease connection

{% hint style="warning" %}

* The gene and disease cannot be changed after a connection is added to the article. You can update the inheritance modes or delete the connection and create a new one.
* You can add multiple connections for the same gene to an article, provided each has a different disease. **Curate** prevents duplicate gene–disease connections within an article.
  {% endhint %}

{% stepper %}
{% step %}
On the **Gene-Disease Connections card**, select **Add**.
{% endstep %}

{% step %}
In the **Add Gene–Disease Connection** dialog, search by gene symbol, HGNC ID, or NCBI ID, and select the gene.
{% endstep %}

{% step %}
Select a disease associated with the gene.

* Select a disease from the connections reported by external sources, including OMIM, academic papers in the Emedgene knowledge graph, CGD, Orphanet, and GenCC (v100.39+).
* If the disease is absent or the list is empty, enter a custom name in <i class="fa-plus">:plus:</i> **Add custom disease**. The name does not need to follow a specific format.
  {% endstep %}

{% step %}
Optionally, select one or more inheritance modes.
{% endstep %}

{% step %}
Select **Add**.
{% endstep %}
{% endstepper %}

**Result:**

* The connection is added to the card, and an activity is recorded.
* **Curate** records an [activity](/emedgene/emedgene-curate-manual/curate-articles/curate-article-page/activities-panel.md).

***

## How to delete a gene-disease connection

{% hint style="warning" %}
Deleting a connection permanently removes it and its associated phenotypes.
{% endhint %}

{% stepper %}
{% step %}
On the connection row, select **Delete** (<i class="fa-trash-can">:trash-can:</i>).
{% endstep %}

{% step %}
Confirm the deletion in the warning dialog.
{% endstep %}
{% endstepper %}

**Result:**

* The connection is removed from the article, together with its phenotypes.
* **Curate** records an [activity](/emedgene/emedgene-curate-manual/curate-articles/curate-article-page/activities-panel.md).

***

## How to add phenotypes to a connection

{% hint style="warning" %}
**Curate** does not allow duplicate phenotypes within one connection.
{% endhint %}

{% stepper %}
{% step %}
Expand the connection row, and select **Add**.
{% endstep %}

{% step %}
In **Add Phenotype**, enter an HPO term name or HPO ID. Separate multiple entries with commas.
{% endstep %}

{% step %}
Optionally, select a frequency and severity for each phenotype.
{% endstep %}

{% step %}
Select **Add Phenotypes.**
{% endstep %}
{% endstepper %}

**Result:**

* The phenotypes are added to the connection.
* **Curate** records an [activity](/emedgene/emedgene-curate-manual/curate-articles/curate-article-page/activities-panel.md) for each added phenotype.

***

## How to update a phenotype’s frequency and severity

{% stepper %}
{% step %}
Expand the connection row and locate the phenotype of interest.
{% endstep %}

{% step %}
On the phenotype row, select **Edit** (<i class="fa-pen">:pen:</i>).
{% endstep %}

{% step %}
Select a frequency and/or severity for the phenotype.
{% endstep %}

{% step %}
Select **Save**.
{% endstep %}
{% endstepper %}

**Result:**

* Frequency and/or severity of a phenotype are updated.
* **Curate** records an [activity](/emedgene/emedgene-curate-manual/curate-articles/curate-article-page/activities-panel.md).

***

## How to delete phenotypes from a connection

{% stepper %}
{% step %}
Expand the connection row and locate the phenotype of interest.
{% endstep %}

{% step %}
On the phenotype row, select **Delete** (<i class="fa-trash-can">:trash-can:</i>).
{% endstep %}

{% step %}
Confirm the deletion in the warning dialog.
{% endstep %}
{% endstepper %}

**Result:**

* The phenotypes are deleted from the connection.
* **Curate** records an [activity](/emedgene/emedgene-curate-manual/curate-articles/curate-article-page/activities-panel.md) for each deleted phenotype.

***

## How to update disease inheritance modes

{% stepper %}
{% step %}
On the connection row, select **Edit** (<i class="fa-pen">:pen:</i>).
{% endstep %}

{% step %}
Select or clear inheritance modes.
{% endstep %}

{% step %}
Select **Update** to save your changes.
{% endstep %}
{% endstepper %}

**Result:**

* The inheritance modes are updated.
* **Curate** records an [activity](/emedgene/emedgene-curate-manual/curate-articles/curate-article-page/activities-panel.md) with the previous and updated values.


---

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