[ { "@graph" : [ { "@id" : "http://identifiers.org/ncbigene/275", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612" ] }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0751748", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057" ] }, { "@id" : "http://rdf.disgenet.org/gene-disease-association.ttl#DGNba4e3e39ea78b78c1c1c32d0eb7e1d1c", "@type" : [ "http://semanticscience.org/resource/SIO_001122" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/275" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0751748" } ] } ], "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_publicationInfo" } ] }, { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_assertion", "@type" : [ "http://www.nanopub.org/nschema#Assertion" ] }, { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_provenance", "@type" : [ "http://www.nanopub.org/nschema#Provenance" ] }, { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_publicationInfo", "@type" : [ "http://www.nanopub.org/nschema#PublicationInfo" ] } ], "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.]. 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_curated" } ], "http://semanticscience.org/resource/SIO_000772" : [ { "@id" : "http://identifiers.org/pubmed/9621520" } ], "http://www.w3.org/ns/prov#wasDerivedFrom" : [ { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#uniprot-20130724" } ], "http://www.w3.org/ns/prov#wasGeneratedBy" : [ { "@id" : "http://purl.obolibrary.org/obo/eco.owl#ECO_0000218" } ] }, { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated", "@type" : [ "http://purl.obolibrary.org/obo/eco.owl#ECO_0000205" ], "http://www.w3.org/2000/01/rdf-schema#comment" : [ { "@language" : "en", "@value" : "Gene-disease associations manually curated." } ], "http://www.w3.org/2000/01/rdf-schema#label" : [ { "@language" : "en", "@value" : "DisGeNET evidence - CURATED" } ] }, { "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#uniprot-20130724", "http://purl.org/pav/2.0/importedOn" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#date", "@value" : "2013-07-24" } ] } ], "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2014-10-02T12:31:58+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#NP386.RAnirC3SkCFNziEwYOKAIVdS7vOS6fKKYufcJPAI0jEKc130_publicationInfo" } ]