Open cmungall opened 6 years ago
The statements I see associated with OMIA_000284-9825 post refactor are below;
still do not include a disease label but might that not best come in best through a clique merge (if possible)
ns1:MONARCH_b0e7001727d58f8cd69f a OBAN:association ;
OBAN:association_has_object OBO:OMIA_000284-9825 ;
OBAN:association_has_predicate OBO:RO_0002200 ;
OBAN:association_has_subject <https://monarchinitiative.org/.well-known/genid/389358675VL> .
<https://monarchinitiative.org/.well-known/genid/389358675VL> a OBO:GENO_0000512 ;
rdfs:label "some variant of GIPR" ;
OBO:GENO_0000408 <https://www.ncbi.nlm.nih.gov/gene/389358675> ;
OBO:GENO_0000418 <https://www.ncbi.nlm.nih.gov/gene/389358675> ;
OBO:RO_0002200 OBO:OMIA_000284-9825 ;
ns1:MONARCH_anonymous true .
OBO:OMIA_000284-9825 a owl:Class ;
dc:description "Genetically-modifed organism; GMO",
"Renner et al. (2010) used transgenesis of the glucose-dependent insulinotropic polypeptide receptor gene (GIPR) to create an animal model of this human disorder due to a dominant-negative GIP receptor in pancreatic cells. [mol_gen]" ;
rdfs:subClassOf OBO:OMIA_000284,
<https://monarchinitiative.org/.well-known/genid/RO0002162NCBITaxon9825> .
Thanks!
Not sure how the label would come in through a clique merge, as omia.ttl is the only source that would refer to this.
Odd that presumably OMIA have it in their export but not visible on their site
in other cases the OMIA may be linked with OMIM
These have caused issues in importing via kgx into medikanren (cc @webyrd)
For example: https://monarchinitiative.org/disease/OMIA:000284-9825
this has one gene associated, but no name for the disease, which makes for a very sparse page
This is an odd one. OMIA:000284 is Blood group system L. 9825 is Sus scrofa domesticus.
Nothing here: http://omia.org/OMIA000132/9825/
However, there is something here, for 'Sus scrofa': http://omia.org/OMIA000132/9823/