[ { "@graph" : [ { "@id" : "http://identifiers.org/ncbigene/1368", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612" ] }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0041107", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057" ] }, { "@id" : "http://rdf.disgenet.org/gene-disease-association.ttl#DGNb5821f2af3b142b85225b8a937ce8b6b", "@type" : [ "http://semanticscience.org/resource/SIO_001121" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/1368" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0041107" } ] } ], "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP530362.RARpamqrPps2twMeDIiahC6v0tOCeytft9s7heFXvFq9Y130_assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP530362.RARpamqrPps2twMeDIiahC6v0tOCeytft9s7heFXvFq9Y", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP530362.RARpamqrPps2twMeDIiahC6v0tOCeytft9s7heFXvFq9Y130_assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP530362.RARpamqrPps2twMeDIiahC6v0tOCeytft9s7heFXvFq9Y130_provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP530362.RARpamqrPps2twMeDIiahC6v0tOCeytft9s7heFXvFq9Y130_publicationInfo" } ] }, { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP530362.RARpamqrPps2twMeDIiahC6v0tOCeytft9s7heFXvFq9Y130_assertion", "@type" : [ "http://www.nanopub.org/nschema#Assertion" ] }, { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP530362.RARpamqrPps2twMeDIiahC6v0tOCeytft9s7heFXvFq9Y130_provenance", "@type" : [ "http://www.nanopub.org/nschema#Provenance" ] }, { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP530362.RARpamqrPps2twMeDIiahC6v0tOCeytft9s7heFXvFq9Y130_publicationInfo", "@type" : [ "http://www.nanopub.org/nschema#PublicationInfo" ] } ], "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP530362.RARpamqrPps2twMeDIiahC6v0tOCeytft9s7heFXvFq9Y130_head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP530362.RARpamqrPps2twMeDIiahC6v0tOCeytft9s7heFXvFq9Y130_assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[(1) IUGR, premature delivery, and/or physical anomalies are observed commonly, even when the trisomy is thought to be confined to the placenta; (2) Level II mosaicism for trisomy 16 in amniotic fluid may reflect a true mosaic state with phenotypic consequences; (3) FISH is more sensitive than traditional cytogenetics in detecting mosaicism in all tissue types examined; (4) hCG levels can be extremely elevated, and MS-AFP levels are often elevated; and (5) Uniparental disomy (UPD) increases the rates of IUGR and physical anomalies in CPM cases.]. 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/v2.1.0/void.ttl#source_evidence_literature" } ], "http://semanticscience.org/resource/SIO_000772" : [ { "@id" : "http://identifiers.org/pubmed/16557642" } ], "http://www.w3.org/ns/prov#wasDerivedFrom" : [ { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225" } ], "http://www.w3.org/ns/prov#wasGeneratedBy" : [ { "@id" : "http://purl.obolibrary.org/obo/eco.owl#ECO_0000203" } ] }, { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225", "http://purl.org/pav/2.0/importedOn" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#date", "@value" : "2014-02-25" } ] }, { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature", "@type" : [ "http://purl.obolibrary.org/obo/eco.owl#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/nanopublications.trig#NP530362.RARpamqrPps2twMeDIiahC6v0tOCeytft9s7heFXvFq9Y130_provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP530362.RARpamqrPps2twMeDIiahC6v0tOCeytft9s7heFXvFq9Y", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2014-10-02T12:37:20+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/v2.1.0/void.ttl#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/v2.1.0/void.ttl#disgenetrdf" } ], "http://purl.org/pav/2.0/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/2.0/createdBy" : [ { "@id" : "http://orcid.org/0000-0003-0169-8159" } ], "http://purl.org/pav/2.0/version" : [ { "@value" : "v2.1.0.0" } ] }, { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf", "http://purl.org/pav/2.0/version" : [ { "@value" : "v2.1.0" } ] } ], "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP530362.RARpamqrPps2twMeDIiahC6v0tOCeytft9s7heFXvFq9Y130_publicationInfo" } ]