Open pnrobinson opened 5 years ago
Would this term work? https://www.ebi.ac.uk/ols/ontologies/sio/terms?iri=http%3A%2F%2Fsemanticscience.org%2Fresource%2FSIO_001123
It would be nice to stick with RO but I don't see anything similar, or go with https://www.ebi.ac.uk/ols/ontologies/ro/properties?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FRO_0040035
The definition says: A gene-disease association in which the disease phenotype is associated with an altered expression of the gene. "the gene" probably refers to the disease gene and not to other genes, although the definition seems a little ambiguous to me. "disease_relationship" has a curator note: Do not use this relation directly.
Can we suggest a proper term to RO instead? Can we debate about the term we think is correct and then make an RO issue?
We've removed CTD gene-disease so this is less apparent, will re-home this ticket to dipper
Noting that is biomarker for
is not in OLS nor Ontobee nor in our https://github.com/monarch-initiative/dipper/blob/master/translationtable/GLOBAL_TERMS.yaml
could someone chime in with how/where/why it appears down stream from dipper?
edit: the same is true of Peter's original is_biomarker
The current is_biomarker relationship is almost always picking out items that are not biomarkers for the disease. Can we consider renaming the relation type to something that is less committal.