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Download HGNC-Mondo ID associations #8554

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dglemos opened this issue Jan 10, 2025 · 3 comments
Open

Download HGNC-Mondo ID associations #8554

dglemos opened this issue Jan 10, 2025 · 3 comments
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@dglemos
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dglemos commented Jan 10, 2025

Hello,
I am looking to download the complete Mondo database, specifically including the Mondo ID and its associated HGNC ID.

So far, the only file I have found with this information is the mondo.owl available on this page: https://mondo.monarchinitiative.org/pages/download/. However, the file format is quite complex, and it appears that not all records include an associated HGNC ID.

Could you please advise if there is a simpler or alternative format available that includes this information?

Thanks
Diana

@twhetzel
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Hi @dglemos - sure, I have attached a file of all Mondo classes that have a disease defining gene association as represented in Mondo. The file includes the Mondo CURIE, label, OMIM identifier, and HGNC gene URL.

mondo_gene_assoc_omim.csv

@twhetzel twhetzel self-assigned this Jan 10, 2025
@dglemos
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dglemos commented Jan 13, 2025

Hi @twhetzel,
Thank you for the quick reply!
This format is perfect. Will it be available on the Download page? We want to be able to download the latest file to run an update for each new Mondo release.
Also, would it be possible to include the version either in the file name or in the first row: ##2025-01-07?

@twhetzel
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Hi @dglemos - I'll bring up that request with the team and report back. At a minimum we can add documentation on how this information can be extracted from Mondo.

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