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ebi gene2pheno disease ID issues #132

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colleenXu opened this issue Jul 21, 2023 · 1 comment
Open

ebi gene2pheno disease ID issues #132

colleenXu opened this issue Jul 21, 2023 · 1 comment
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data source Data source pending to create a new API

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@colleenXu
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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 colleenXu added the data source Data source pending to create a new API label Feb 1, 2024
@colleenXu
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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

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data source Data source pending to create a new API
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