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Variant associated conditions overview

Meet Franklin powerful Geno-Pheno engine that collects and curated data from multiple sources to help you find the relevant condition

Assaf Sheffer avatar
Written by Assaf Sheffer
Updated over a year ago

Using complex algorithms, and an abundance of annotated data for each variant from sources such as OMIM, Orphanet, GeneReviews, Diseases, and PubMed Franklin calculates and aggregates gene-disease correlations.

The 'Associated Conditions' tab will present the list of conditions that may be caused by the queried variant.

Each condition is represented by a tile, showing the condition name, the sources for the correlation evidence, the disease inheritance model, and the strength of the evidence linking the condition to the gene.

Franklin displays the most relevant condition at the top of the list, by matching the case phenotypes to the conditions. Matching terms are represented with blue tags on the variant tile.

Note that Franklin also searches for synonyms so you might find several tags representing the same phenotype, as different sources use different names.

The list can also be filtered by source or by evidence strength to narrow down the results.

Clicking on a condition will lead you to the condition page providing a description of the disease, different synonyms, and a list of all the related phenotypes divided according to different body systems. Hovering over a phenotype will provide a short HPO description.

Still have questions? Reach out to our Support Team, they'll be happy to help!

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