[ { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/gda/DGNccbb3226a1fd70429da770a503c02f50", "@type" : [ "http://semanticscience.org/resource/SIO_001122" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/2956" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0007102" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP471307.RAyjJDAebgHgC7KyngLsge2mQ8Ks7IEUSSKxNHiWqdqW8#assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP471307.RAyjJDAebgHgC7KyngLsge2mQ8Ks7IEUSSKxNHiWqdqW8", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP471307.RAyjJDAebgHgC7KyngLsge2mQ8Ks7IEUSSKxNHiWqdqW8#assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP471307.RAyjJDAebgHgC7KyngLsge2mQ8Ks7IEUSSKxNHiWqdqW8#provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP471307.RAyjJDAebgHgC7KyngLsge2mQ8Ks7IEUSSKxNHiWqdqW8#publicationInfo" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP471307.RAyjJDAebgHgC7KyngLsge2mQ8Ks7IEUSSKxNHiWqdqW8#head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP471307.RAyjJDAebgHgC7KyngLsge2mQ8Ks7IEUSSKxNHiWqdqW8#assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 families enrolled in the Colon Cancer Family Registry, were genotyped for the single nucleotide polymorphisms (SNPs): rs16892766 (8q23.3), rs6983267 (8q24.21), rs719725 (9p24), rs10795668 (10p14), rs3802842 (11q23.1), rs4444235 (14q22.2), rs4779584 (15q13.3), rs9929218 (16q22.1), rs4939827 (18q21.1), rs10411210 (19q13.1) and rs961253 (20p12.3).]. 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/23434150" } ], "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/NP471307.RAyjJDAebgHgC7KyngLsge2mQ8Ks7IEUSSKxNHiWqdqW8#provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP471307.RAyjJDAebgHgC7KyngLsge2mQ8Ks7IEUSSKxNHiWqdqW8", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2017-10-17T13:13:10+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/NP471307.RAyjJDAebgHgC7KyngLsge2mQ8Ks7IEUSSKxNHiWqdqW8#publicationInfo" } ]