[ { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/gda/DGN8e8bf3316677bb2364e6946a552a12d1", "@type" : [ "http://semanticscience.org/resource/SIO_001121" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/627" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0019569" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP114730.RAdZNh0QPdMi_Tkw6-874auPQQsDT0n-_Il1YswHuo2KQ#assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP114730.RAdZNh0QPdMi_Tkw6-874auPQQsDT0n-_Il1YswHuo2KQ", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP114730.RAdZNh0QPdMi_Tkw6-874auPQQsDT0n-_Il1YswHuo2KQ#assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP114730.RAdZNh0QPdMi_Tkw6-874auPQQsDT0n-_Il1YswHuo2KQ#provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP114730.RAdZNh0QPdMi_Tkw6-874auPQQsDT0n-_Il1YswHuo2KQ#publicationInfo" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP114730.RAdZNh0QPdMi_Tkw6-874auPQQsDT0n-_Il1YswHuo2KQ#head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP114730.RAdZNh0QPdMi_Tkw6-874auPQQsDT0n-_Il1YswHuo2KQ#assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[We studied the RET, GDNF, GFRA1, PHOX2A, PHOX2B, HASH-1, EDN1, EDN3, EDNRB, and BDNF genes in seven patients with isolated CCHS and three patients with HSCR.]. 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/14566559" } ], "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/NP114730.RAdZNh0QPdMi_Tkw6-874auPQQsDT0n-_Il1YswHuo2KQ#provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP114730.RAdZNh0QPdMi_Tkw6-874auPQQsDT0n-_Il1YswHuo2KQ", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2017-10-17T13:10:55+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/NP114730.RAdZNh0QPdMi_Tkw6-874auPQQsDT0n-_Il1YswHuo2KQ#publicationInfo" } ]