[ { "@graph" : [ { "@id" : "http://identifiers.org/ncbigene/410", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612" ] }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0026709", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057" ] }, { "@id" : "http://rdf.disgenet.org/gene-disease-association.ttl#DGN0959b616774c986de56693ef7475af61", "@type" : [ "http://semanticscience.org/resource/SIO_001121" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/410" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0026709" } ] } ], "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP152634.RAUVNHsTV12-WsY3__6Z-AHNikJRUGM5zo-xj6pCkeIKs130_assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP152634.RAUVNHsTV12-WsY3__6Z-AHNikJRUGM5zo-xj6pCkeIKs", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP152634.RAUVNHsTV12-WsY3__6Z-AHNikJRUGM5zo-xj6pCkeIKs130_assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP152634.RAUVNHsTV12-WsY3__6Z-AHNikJRUGM5zo-xj6pCkeIKs130_provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP152634.RAUVNHsTV12-WsY3__6Z-AHNikJRUGM5zo-xj6pCkeIKs130_publicationInfo" } ] }, { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP152634.RAUVNHsTV12-WsY3__6Z-AHNikJRUGM5zo-xj6pCkeIKs130_assertion", "@type" : [ "http://www.nanopub.org/nschema#Assertion" ] }, { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP152634.RAUVNHsTV12-WsY3__6Z-AHNikJRUGM5zo-xj6pCkeIKs130_provenance", "@type" : [ "http://www.nanopub.org/nschema#Provenance" ] }, { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP152634.RAUVNHsTV12-WsY3__6Z-AHNikJRUGM5zo-xj6pCkeIKs130_publicationInfo", "@type" : [ "http://www.nanopub.org/nschema#PublicationInfo" ] } ], "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP152634.RAUVNHsTV12-WsY3__6Z-AHNikJRUGM5zo-xj6pCkeIKs130_head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP152634.RAUVNHsTV12-WsY3__6Z-AHNikJRUGM5zo-xj6pCkeIKs130_assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[R95Q, G144R, H393P, & C521Y cause large structural changes, & are associated with the severe phenotype of mucopolysaccharidosis VI/& Y210C are thought to cause small structural changes in a limited region resulting in the attenuated phenotype.]. 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/18248830" } ], "http://www.w3.org/ns/prov#wasDerivedFrom" : [ { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#lhgdn-20090331" } ], "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#lhgdn-20090331", "http://purl.org/pav/2.0/importedOn" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#date", "@value" : "2009-03-31" } ] }, { "@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#NP152634.RAUVNHsTV12-WsY3__6Z-AHNikJRUGM5zo-xj6pCkeIKs130_provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP152634.RAUVNHsTV12-WsY3__6Z-AHNikJRUGM5zo-xj6pCkeIKs", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2014-10-02T12:33:21+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#NP152634.RAUVNHsTV12-WsY3__6Z-AHNikJRUGM5zo-xj6pCkeIKs130_publicationInfo" } ]