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biothings / mydisease.info

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

Open andrewsu opened 3 years ago

andrewsu commented 3 years ago

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 https://github.com/biothings/mygene.info/issues/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 commented 8 months ago

@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 commented 8 months ago

assigned to @DylanWelzel

colleenXu commented 7 months ago

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