[ { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/gda/DGN21c0d9f4a5ed558986c100f1eaf41770", "@type" : [ "http://semanticscience.org/resource/SIO_001122" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/324" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0032580" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP47193.RAlmAp0eGBh2J_lMera2Jash0BDvdz4AlrWEcs1qeCQ_k#assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP47193.RAlmAp0eGBh2J_lMera2Jash0BDvdz4AlrWEcs1qeCQ_k", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP47193.RAlmAp0eGBh2J_lMera2Jash0BDvdz4AlrWEcs1qeCQ_k#assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP47193.RAlmAp0eGBh2J_lMera2Jash0BDvdz4AlrWEcs1qeCQ_k#provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP47193.RAlmAp0eGBh2J_lMera2Jash0BDvdz4AlrWEcs1qeCQ_k#publicationInfo" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP47193.RAlmAp0eGBh2J_lMera2Jash0BDvdz4AlrWEcs1qeCQ_k#head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP47193.RAlmAp0eGBh2J_lMera2Jash0BDvdz4AlrWEcs1qeCQ_k#assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[The recent identification of germline mutations of the APC gene in patients with familial adenomatous polyposis makes presymptomatic molecular diagnosis possible, but the widespread distribution of the many mutations within this very large gene have heretofore made the search for such mutations impractical.]. 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/v5.0.0/void/source_evidence_literature" } ], "http://semanticscience.org/resource/SIO_000772" : [ { "@id" : "http://identifiers.org/pubmed/8247073" } ], "http://www.w3.org/ns/prov#wasDerivedFrom" : [ { "@id" : "http://rdf.disgenet.org/v5.0.0/void/BEFREE" } ], "http://www.w3.org/ns/prov#wasGeneratedBy" : [ { "@id" : "http://purl.obolibrary.org/obo/ECO_0000203" } ] }, { "@id" : "http://rdf.disgenet.org/v5.0.0/void/BEFREE", "http://purl.org/pav/importedOn" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#date", "@value" : "2017-02-19" } ] }, { "@id" : "http://rdf.disgenet.org/v5.0.0/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/NP47193.RAlmAp0eGBh2J_lMera2Jash0BDvdz4AlrWEcs1qeCQ_k#provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP47193.RAlmAp0eGBh2J_lMera2Jash0BDvdz4AlrWEcs1qeCQ_k", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2017-10-17T13:10:29+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/v5.0.0/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/v5.0.0/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" : "v5.0.0.0" } ] }, { "@id" : "http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf", "http://purl.org/pav/version" : [ { "@value" : "v5.0.0" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP47193.RAlmAp0eGBh2J_lMera2Jash0BDvdz4AlrWEcs1qeCQ_k#publicationInfo" } ]