Open cmungall opened 4 years ago
<https://monarchinitiative.org/MONARCH_b02402c255860259e85b> <http://purl.org/oban/association_has_object> <https://omia.org/OMIA001824-9913> . <https://monarchinitiative.org/MONARCH_b02402c255860259e85b> <http://purl.org/oban/association_has_predicate> <http://purl.obolibrary.org/obo/RO_0002200> . <https://monarchinitiative.org/MONARCH_b02402c255860259e85b> <http://purl.org/oban/association_has_subject> <https://monarchinitiative.org/.well-known/genid/bd6bff744a66b4b1dd07> . <https://monarchinitiative.org/MONARCH_b02402c255860259e85b> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/oban/association> .
=> some variant of SMC2 has-phenotype Haplotype HH3
(I don't think a haplotype is a phenotype but let's put that to the side or another ticket)
here is the pseudoblank:
<https://monarchinitiative.org/MONARCH_b02402c255860259e85b> <http://purl.org/oban/association_has_subject> <https://monarchinitiative.org/.well-known/genid/bd6bff744a66b4b1dd07> . <https://monarchinitiative.org/.well-known/genid/bd6bff744a66b4b1dd07> <http://purl.obolibrary.org/obo/GENO_0000408> <https://www.ncbi.nlm.nih.gov/gene/388275696> . <https://monarchinitiative.org/.well-known/genid/bd6bff744a66b4b1dd07> <http://purl.obolibrary.org/obo/GENO_0000418> <https://www.ncbi.nlm.nih.gov/gene/388275696> . <https://monarchinitiative.org/.well-known/genid/bd6bff744a66b4b1dd07> <http://purl.obolibrary.org/obo/RO_0002200> <https://omia.org/OMIA001824-9913> . <https://monarchinitiative.org/.well-known/genid/bd6bff744a66b4b1dd07> <https://monarchinitiative.org/MONARCH_anonymous> "true"^^<http://www.w3.org/2001/XMLSchema#boolean> . <https://monarchinitiative.org/.well-known/genid/bd6bff744a66b4b1dd07> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.obolibrary.org/obo/GENO_0000512> . <https://monarchinitiative.org/.well-known/genid/bd6bff744a66b4b1dd07> <http://www.w3.org/2000/01/rdf-schema#label> "some variant of SMC2" .
I think we want to directly link NCBIGene:388275696 to the 'phenotype' following biolink
Aside: we should not be using URLs like https://www.ncbi.nlm.nih.gov/gene/388275696 as our PURLs
=> some variant of SMC2 has-phenotype Haplotype HH3
(I don't think a haplotype is a phenotype but let's put that to the side or another ticket)
here is the pseudoblank:
I think we want to directly link NCBIGene:388275696 to the 'phenotype' following biolink
Aside: we should not be using URLs like https://www.ncbi.nlm.nih.gov/gene/388275696 as our PURLs