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.

Note:

GenCC is included as a gene–disease source starting with Emedgene knowledge base version 82.

To view GenCC annotations in the UI, you must use platform version 100.39.0 or later.

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

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, as well as on the Evidence page, and can be included in the report.

Verify your disease selection before completing the report to ensure accurate evidence graph, phenotype matching, and consistent Curate data.

Selecting a different disease

1

Click Edit.

2

Select a different disease.

3

Click Save.

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

1

Click Edit.

2

Click the button on the top right of the card.

3

Enter your custom disease name.

4

Click Save.

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.