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biothings / pending.api

Set of standalone APIs built with the BioThings SDK for the Translator Project
https://biothings.ncats.io
Apache License 2.0
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ebi gene2pheno disease ID issues #132

Open colleenXu opened 11 months ago

colleenXu commented 11 months ago

only 1559 / 2382 gene-records have the omim disease ID field gene2phenotype.disease.disease_mim: https://pending.biothings.io/ebigene2phenotype/query?q=_exists_:gene2phenotype.disease.disease_mim

other records have only a name, and it would be nice if we could map these to some disease ID. They all look like omim disease names (all caps).

3 records have the field gene2phenotype.disease_ontology https://pending.biothings.io/ebigene2phenotype/query?q=_exists_:gene2phenotype.disease_ontology, which appears to be MONDO disease IDs with the prefix. However, two of them appear misparsed, so the value is MONDO_0015286

colleenXu commented 5 months ago

It may also be helpful to update the data/parser of this API

@everaldorodrigo @newgene @andrewsu

Perhaps this would be a useful issue to address