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feat: use integrated gene-wise conditions data from annonars (#389) (#…
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holtgrewe authored Jan 19, 2024
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19 changes: 17 additions & 2 deletions docs/doc_manual.rst
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Expand Up @@ -44,10 +44,25 @@ This card shows the avaible gene pathogenicity scores for a gene such as:
Associated Conditions
=====================

This card shows the avaible information on the phenotypes associated to the respective gene as HPO terms and known OMIM phenotypes.
This card shows the avaible information on the conditiosn associated to the respective gene.

First, the card will display information on membership in the ACMG Supplementary Findings list, if the gene is contained.

Second, the card will show diseases associated via OMIM, OrphaNet or PanelApp.
The confidence corresponds to the highest evidence of the link (high, medium, or low).
A link from OMIM has high confidence, as does have a link from OrphaNet with "Assessed" label.
Orphanet links that are "Not yet assessed" have a link of low strength.
Link strength from PanelApp are taken from the green/amber/red labels in PanelApp.
Currently, links from PanelApp are only made if the gene-phenotype link is tagged with an Orphanet or OMIM disease.
Clicking on the disease sheet will show you the OMIM and Orphanet terms that are integrated into the card.

Below, you can see a list of PanelApp panels associated with the gene.
You can see the panel name, the version, confidence, and labeled mode of inheritance.
Clicking on the panel sheet will show you the full list of phenotypes labeled in the panel.

Note than you can use the button "numeric terms" in the lower left corner to show or hide the corresponding numeric HPO term and OMIM phenotype IDs; with the button "show links" right next you can activate and deactivate the corresponding link-outs of the displayed HPO terms and OMIM phenotypes.
At the bottom of the card you can also find more link-outs to further websites with gene-phenotype information, such as JAX and Orphanet.
Note that you can also use the "More" button on the lower right of the card to show associated Orphanet disorders and their respective link-outs.
Note that you can also use the "More" button on the lower right of the card to directly show non-integrated OMIM and Orphanet disorders and their respective link-outs.

If you have logged in and provided case specific phenotype information with HPO terms you can find the gene-to-phenotype rank (i.e. how well your case's HPO terms fit the gene's associated HPO terms) in the grey box on the right.

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4 changes: 2 additions & 2 deletions frontend/src/assets/__tests__/BRCA1GeneInfo.json
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