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change predicate for DisGeNet

Open saramsey opened this issue 10 months ago • 5 comments

For DisGeNet, we should use biolink:genetically_associated_with instead of biolink:gene_associated_with_condition.

saramsey avatar Feb 20 '25 20:02 saramsey

@bazarkua please make sure that biolink:gene_associated_with is actually valid in the current version of the Biolink model (look in https://github.com/biolink/biolink-model/blob/master/biolink-model.yaml

saramsey avatar Apr 03 '25 20:04 saramsey

take a look at this file: https://github.com/RTXteam/RTX-KG2/blob/master/convert/disgenet_tsv_to_kg_jsonl.py

saramsey avatar Apr 03 '25 21:04 saramsey

this issue is pending until biolink-model.yaml is updated to allow gene associated with

saramsey avatar Apr 03 '25 21:04 saramsey

OK, just confirming (after checking the DisGeNet edges file in the RTX-KG2.10.2pre build), we should use biolink:genetically_associated_with since DisGeNet contains not just associations between genes and diseases (a.k.a. "conditions") but also associations between genes and phenotypes (such as "body height", UMLS:C0005890).

saramsey avatar Apr 10 '25 18:04 saramsey

Closing because it is no longer relevant (due to #469)

ecwood avatar Aug 18 '25 10:08 ecwood