[ { "@graph" : [ { "@id" : "http://identifiers.org/ncbigene/2010", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612" ] }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0026846", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057" ] }, { "@id" : "http://rdf.disgenet.org/resource/gda/DGN5355b0806e1b2e93884e1b2bdada7ec1", "@type" : [ "http://semanticscience.org/resource/SIO_001121" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/2010" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0026846" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP299554.RAR9LJcipaPxrULv6kBIROFf-tNBFU2zniy4zEjxnUGZY130_assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP299554.RAR9LJcipaPxrULv6kBIROFf-tNBFU2zniy4zEjxnUGZY", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP299554.RAR9LJcipaPxrULv6kBIROFf-tNBFU2zniy4zEjxnUGZY130_assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP299554.RAR9LJcipaPxrULv6kBIROFf-tNBFU2zniy4zEjxnUGZY130_provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP299554.RAR9LJcipaPxrULv6kBIROFf-tNBFU2zniy4zEjxnUGZY130_publicationInfo" } ] }, { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP299554.RAR9LJcipaPxrULv6kBIROFf-tNBFU2zniy4zEjxnUGZY130_assertion", "@type" : [ "http://www.nanopub.org/nschema#Assertion" ] }, { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP299554.RAR9LJcipaPxrULv6kBIROFf-tNBFU2zniy4zEjxnUGZY130_provenance", "@type" : [ "http://www.nanopub.org/nschema#Provenance" ] }, { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP299554.RAR9LJcipaPxrULv6kBIROFf-tNBFU2zniy4zEjxnUGZY130_publicationInfo", "@type" : [ "http://www.nanopub.org/nschema#PublicationInfo" ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP299554.RAR9LJcipaPxrULv6kBIROFf-tNBFU2zniy4zEjxnUGZY130_head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP299554.RAR9LJcipaPxrULv6kBIROFf-tNBFU2zniy4zEjxnUGZY130_assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[Cardiac abnormalities in the proband's ten-year-old dizygotic twins without evident clinical features suggestive of EDMD were remarkable in contrast to the oldest patient in the family, who lived to the age of 63 without a pacemaker, and to the proband who had a very early onset of muscle wasting and weakness, and a pacemaker implantation at the age of 27.]. 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/v4.0.0/void/source_evidence_literature" } ], "http://semanticscience.org/resource/SIO_000772" : [ { "@id" : "http://identifiers.org/pubmed/11063761" } ], "http://www.w3.org/ns/prov#wasDerivedFrom" : [ { "@id" : "http://rdf.disgenet.org/v4.0.0/void/befree-2016" } ], "http://www.w3.org/ns/prov#wasGeneratedBy" : [ { "@id" : "http://purl.obolibrary.org/obo/ECO_0000203" } ] }, { "@id" : "http://rdf.disgenet.org/v4.0.0/void/befree-2016", "http://purl.org/pav/importedOn" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#date", "@value" : "2016-02-19" } ] }, { "@id" : "http://rdf.disgenet.org/v4.0.0/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/NP299554.RAR9LJcipaPxrULv6kBIROFf-tNBFU2zniy4zEjxnUGZY130_provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP299554.RAR9LJcipaPxrULv6kBIROFf-tNBFU2zniy4zEjxnUGZY", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2016-05-13T12:44:01+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/v4.0.0/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/v4.0.0/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" : "v4.0.0.0" } ] }, { "@id" : "http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf", "http://purl.org/pav/version" : [ { "@value" : "v4.0.0" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP299554.RAR9LJcipaPxrULv6kBIROFf-tNBFU2zniy4zEjxnUGZY130_publicationInfo" } ]