[ { "@graph" : [ { "@id" : "http://identifiers.org/ncbigene/3757", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612" ] }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0741923", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057" ] }, { "@id" : "http://rdf.disgenet.org/resource/gda/DGN82748e80f7f81467a0985d296192b751", "@type" : [ "http://semanticscience.org/resource/SIO_001122" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/3757" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0741923" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP522105.RAnTj-4E3ceigm8lF81h-iCBzXI4Umw7hNecKlWzOC-HQ130_assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP522105.RAnTj-4E3ceigm8lF81h-iCBzXI4Umw7hNecKlWzOC-HQ", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP522105.RAnTj-4E3ceigm8lF81h-iCBzXI4Umw7hNecKlWzOC-HQ130_assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP522105.RAnTj-4E3ceigm8lF81h-iCBzXI4Umw7hNecKlWzOC-HQ130_provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP522105.RAnTj-4E3ceigm8lF81h-iCBzXI4Umw7hNecKlWzOC-HQ130_publicationInfo" } ] }, { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP522105.RAnTj-4E3ceigm8lF81h-iCBzXI4Umw7hNecKlWzOC-HQ130_assertion", "@type" : [ "http://www.nanopub.org/nschema#Assertion" ] }, { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP522105.RAnTj-4E3ceigm8lF81h-iCBzXI4Umw7hNecKlWzOC-HQ130_provenance", "@type" : [ "http://www.nanopub.org/nschema#Provenance" ] }, { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP522105.RAnTj-4E3ceigm8lF81h-iCBzXI4Umw7hNecKlWzOC-HQ130_publicationInfo", "@type" : [ "http://www.nanopub.org/nschema#PublicationInfo" ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP522105.RAnTj-4E3ceigm8lF81h-iCBzXI4Umw7hNecKlWzOC-HQ130_head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP522105.RAnTj-4E3ceigm8lF81h-iCBzXI4Umw7hNecKlWzOC-HQ130_assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[In a large LQT2 family (n=33), we have identified a novel nonpore missense mutation (K28E) in the Per-Arnt-Sim (PAS) domain of the KCNH2 channel associated with a malignant phenotype: One third of the suspected gene carriers experienced a major cardiac event.]. 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/v3.0.0/void/source_evidence_literature" } ], "http://semanticscience.org/resource/SIO_000772" : [ { "@id" : "http://identifiers.org/pubmed/15699249" } ], "http://www.w3.org/ns/prov#wasDerivedFrom" : [ { "@id" : "http://rdf.disgenet.org/v3.0.0/void/befree-20150227" } ], "http://www.w3.org/ns/prov#wasGeneratedBy" : [ { "@id" : "http://purl.obolibrary.org/obo/ECO_0000203" } ] }, { "@id" : "http://rdf.disgenet.org/v3.0.0/void/befree-20150227", "http://purl.org/pav/importedOn" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#date", "@value" : "2015-02-27" } ] }, { "@id" : "http://rdf.disgenet.org/v3.0.0/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/NP522105.RAnTj-4E3ceigm8lF81h-iCBzXI4Umw7hNecKlWzOC-HQ130_provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP522105.RAnTj-4E3ceigm8lF81h-iCBzXI4Umw7hNecKlWzOC-HQ", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2015-08-25T14:42:48+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/v3.0.0/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/v3.0.0/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" : "v3.0.0.0" } ] }, { "@id" : "http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf", "http://purl.org/pav/version" : [ { "@value" : "v3.0.0" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP522105.RAnTj-4E3ceigm8lF81h-iCBzXI4Umw7hNecKlWzOC-HQ130_publicationInfo" } ]