Gene-related diseases card

Card contents

The Gene-related diseases card on the Curate Variant page shows the disease currently selected for the variant.

Use it to review gene-disease associations and update the selected disease.

The Gene-related diseases card shows:

• The selected disease
• Links to gene-disease sources, including public databases and literature
• Inheritance mode indicators, where available

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How to update a selected gene-related disease

Updating the selected disease for the variant.

1

In the Gene-related diseases card, select Change.

2

Review the list of gene-related diseases.

For multi-gene CNVs, the list includes diseases associated with each affected gene.

3

Select a disease or None.

4

Select Save.

Result: The selected disease is updated for the variant.