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Load orphanet/orphadata data on gene-disease associations and disease-phenotype associations #40

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andrewsu opened this issue Mar 29, 2021 · 3 comments
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@andrewsu
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Orphanet provides gene-disease and disease-phenotype associations for rare diseases under at CC-BY 4.0 license.

See link for "Genes associated with rare diseases" in http://www.orphadata.org/cgi-bin/index.php. Current XML file appears to be continuously updated at http://www.orphadata.org/data/xml/en_product6.xml. (See also biothings/mygene.info#109)

See also link for "Rare diseases with associated phenotypes" at the same link above. Current XML file appears to be continuously update at http://www.orphadata.org/data/xml/en_product4.xml

@colleenXu
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colleenXu commented Feb 1, 2024

@everaldorodrigo @andrewsu @newgene

Not clear if this is something that has been worked on, and if it's in-scope for Everaldo to work on

It looks useful

@newgene
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newgene commented Feb 1, 2024

assigned to @DylanWelzel

@colleenXu
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We may be getting the disease-pheno annotations from orphanet already, through the HPO annotations ingest. However, this information can get overwritten, see #43

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