[ { "@graph" : [ { "@id" : "http://identifiers.org/ncbigene/7253", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612" ] }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0010308", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057" ] }, { "@id" : "http://rdf.disgenet.org/gene-disease-association.ttl#DGNbac366f43183c49586519f4a5dc791c8", "@type" : [ "http://semanticscience.org/resource/SIO_001121" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/7253" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0010308" } ] } ], "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_publicationInfo" } ] }, { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_assertion", "@type" : [ "http://www.nanopub.org/nschema#Assertion" ] }, { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_provenance", "@type" : [ "http://www.nanopub.org/nschema#Provenance" ] }, { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_publicationInfo", "@type" : [ "http://www.nanopub.org/nschema#PublicationInfo" ] } ], "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[The screening of TSHR gene mutations by SSCP in a well defined cohort of 100 children with congenital hypothyroidism (CH), diagnosed and followed since 1978 in the Childrens Hospital of Berlin, revealed one patient with hypoplasia of the thyroid to be positive for two compound heterozygote inactivating mutations of the TSHR gene, indicating thereby that the clinical approach to define phenotypes of interest could be helpful to understand the fundamental process of thyroid development.]. 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/8981017" } ], "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#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2014-10-02T12:36:27+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#NP447641.RAojY5wG3DRE_VmmMikQi_Vs-2DY6xDOsi9x3WTa2fu9c130_publicationInfo" } ]