[ { "@graph" : [ { "@id" : "http://identifiers.org/ncbigene/27086", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612" ] }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0004936", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057" ] }, { "@id" : "http://rdf.disgenet.org/resource/gda/DGNb6901e4d2dbde24b93e9b8525cbf3cc5", "@type" : [ "http://semanticscience.org/resource/SIO_001121" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/27086" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0004936" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP885434.RAAOzw_kThBzdLj3fNm94EfdIj1C8rvSrrityYVE3xe0Y130_assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP885434.RAAOzw_kThBzdLj3fNm94EfdIj1C8rvSrrityYVE3xe0Y", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP885434.RAAOzw_kThBzdLj3fNm94EfdIj1C8rvSrrityYVE3xe0Y130_assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP885434.RAAOzw_kThBzdLj3fNm94EfdIj1C8rvSrrityYVE3xe0Y130_provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP885434.RAAOzw_kThBzdLj3fNm94EfdIj1C8rvSrrityYVE3xe0Y130_publicationInfo" } ] }, { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP885434.RAAOzw_kThBzdLj3fNm94EfdIj1C8rvSrrityYVE3xe0Y130_assertion", "@type" : [ "http://www.nanopub.org/nschema#Assertion" ] }, { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP885434.RAAOzw_kThBzdLj3fNm94EfdIj1C8rvSrrityYVE3xe0Y130_provenance", "@type" : [ "http://www.nanopub.org/nschema#Provenance" ] }, { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP885434.RAAOzw_kThBzdLj3fNm94EfdIj1C8rvSrrityYVE3xe0Y130_publicationInfo", "@type" : [ "http://www.nanopub.org/nschema#PublicationInfo" ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP885434.RAAOzw_kThBzdLj3fNm94EfdIj1C8rvSrrityYVE3xe0Y130_head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP885434.RAAOzw_kThBzdLj3fNm94EfdIj1C8rvSrrityYVE3xe0Y130_assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[We sequenced BCAs in patients with autism or related NDDs, revealing disruption of 33 loci in four general categories: (1) genes previously associated with abnormal neurodevelopment (e.g., AUTS2, FOXP1, and CDKL5), (2) single-gene contributors to microdeletion syndromes (MBD5, SATB2, EHMT1, and SNURF-SNRPN), (3) novel risk loci (e.g., CHD8, KIRREL3, and ZNF507), and (4) genes associated with later-onset psychiatric disorders (e.g., TCF4, ZNF804A, PDE10A, GRIN2B, and ANK3).]. 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/22521361" } ], "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/NP885434.RAAOzw_kThBzdLj3fNm94EfdIj1C8rvSrrityYVE3xe0Y130_provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP885434.RAAOzw_kThBzdLj3fNm94EfdIj1C8rvSrrityYVE3xe0Y", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2015-08-25T14:46:39+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/NP885434.RAAOzw_kThBzdLj3fNm94EfdIj1C8rvSrrityYVE3xe0Y130_publicationInfo" } ]