[ { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/gda/DGN8a719d49de75c4c1431077e07ece9012", "@type" : [ "http://semanticscience.org/resource/SIO_001122" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/861" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0023467" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP165554.RAgjhxNTPv-dHscZ8w1Zex8xy2oaNJvO2s-7pPGrnkP7I#assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP165554.RAgjhxNTPv-dHscZ8w1Zex8xy2oaNJvO2s-7pPGrnkP7I", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP165554.RAgjhxNTPv-dHscZ8w1Zex8xy2oaNJvO2s-7pPGrnkP7I#assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP165554.RAgjhxNTPv-dHscZ8w1Zex8xy2oaNJvO2s-7pPGrnkP7I#provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP165554.RAgjhxNTPv-dHscZ8w1Zex8xy2oaNJvO2s-7pPGrnkP7I#publicationInfo" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP165554.RAgjhxNTPv-dHscZ8w1Zex8xy2oaNJvO2s-7pPGrnkP7I#head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP165554.RAgjhxNTPv-dHscZ8w1Zex8xy2oaNJvO2s-7pPGrnkP7I#assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[Two hereditary human leukemia syndromes are severe congenital neutropenia (SCN), caused by mutations in the gene ELA2, encoding the protease neutrophil elastase, and familial platelet disorder with acute myelogenous leukemia (AML), caused by mutations in the gene AML1, encoding the transcription factor core-binding factor alpha (CBFalpha).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." } ], "http://purl.org/ontology/wi/core#evidence" : [ { "@id" : "http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature" } ], "http://semanticscience.org/resource/SIO_000772" : [ { "@id" : "http://identifiers.org/pubmed/14594802" } ], "http://www.w3.org/ns/prov#wasDerivedFrom" : [ { "@id" : "http://rdf.disgenet.org/v5.0.0/void/BEFREE" } ], "http://www.w3.org/ns/prov#wasGeneratedBy" : [ { "@id" : "http://purl.obolibrary.org/obo/ECO_0000203" } ] }, { "@id" : "http://rdf.disgenet.org/v5.0.0/void/BEFREE", "http://purl.org/pav/importedOn" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#date", "@value" : "2017-02-19" } ] }, { "@id" : "http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature", "@type" : [ "http://purl.obolibrary.org/obo/ECO_0000212" ], "http://www.w3.org/2000/01/rdf-schema#comment" : [ { "@language" : "en", "@value" : "Gene-disease associations inferred from text-mining the literature." } ], "http://www.w3.org/2000/01/rdf-schema#label" : [ { "@language" : "en", "@value" : "DisGeNET evidence - LITERATURE" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP165554.RAgjhxNTPv-dHscZ8w1Zex8xy2oaNJvO2s-7pPGrnkP7I#provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP165554.RAgjhxNTPv-dHscZ8w1Zex8xy2oaNJvO2s-7pPGrnkP7I", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2017-10-17T13:11:15+02:00" } ], "http://purl.org/dc/terms/rights" : [ { "@id" : "http://opendatacommons.org/licenses/odbl/1.0/" } ], "http://purl.org/dc/terms/rightsHolder" : [ { "@id" : "http://rdf.disgenet.org/v5.0.0/void/IBIGroup" } ], "http://purl.org/dc/terms/subject" : [ { "@id" : "http://semanticscience.org/resource/SIO_000983" } ], "http://purl.org/net/provenance/ns#usedData" : [ { "@id" : "http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf" } ], "http://purl.org/pav/authoredBy" : [ { "@id" : "http://orcid.org/0000-0001-5999-6269" }, { "@id" : "http://orcid.org/0000-0002-7534-7661" }, { "@id" : "http://orcid.org/0000-0002-9383-528X" }, { "@id" : "http://orcid.org/0000-0003-0169-8159" }, { "@id" : "http://orcid.org/0000-0003-1244-7654" } ], "http://purl.org/pav/createdBy" : [ { "@id" : "http://orcid.org/0000-0003-0169-8159" } ], "http://purl.org/pav/version" : [ { "@value" : "v5.0.0.0" } ] }, { "@id" : "http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf", "http://purl.org/pav/version" : [ { "@value" : "v5.0.0" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP165554.RAgjhxNTPv-dHscZ8w1Zex8xy2oaNJvO2s-7pPGrnkP7I#publicationInfo" } ]