[ { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/gda/DGNb4b91230fb5e069c035ff48a60a4d27f", "@type" : [ "http://semanticscience.org/resource/SIO_001121" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ncbigene/3651" }, { "@id" : "http://linkedlifedata.com/resource/umls/id/C0011860" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP598797.RA5vqmq6VDJ6X9AXSns_TUjMMpv6d0k7Q8ZRbc_y3zuNI#assertion" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP598797.RA5vqmq6VDJ6X9AXSns_TUjMMpv6d0k7Q8ZRbc_y3zuNI", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP598797.RA5vqmq6VDJ6X9AXSns_TUjMMpv6d0k7Q8ZRbc_y3zuNI#assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP598797.RA5vqmq6VDJ6X9AXSns_TUjMMpv6d0k7Q8ZRbc_y3zuNI#provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP598797.RA5vqmq6VDJ6X9AXSns_TUjMMpv6d0k7Q8ZRbc_y3zuNI#publicationInfo" } ] } ], "@id" : "http://rdf.disgenet.org/resource/nanopub/NP598797.RA5vqmq6VDJ6X9AXSns_TUjMMpv6d0k7Q8ZRbc_y3zuNI#head" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP598797.RA5vqmq6VDJ6X9AXSns_TUjMMpv6d0k7Q8ZRbc_y3zuNI#assertion", "http://purl.org/dc/terms/description" : [ { "@language" : "en", "@value" : "[In addition, two missense variants in PAM, encoding p.Asp563Gly (frequency of 4.98%) and p.Ser539Trp (frequency of 0.65%), confer moderately higher risk of T2D (OR = 1.23, P = 3.9 � 10(-10) and OR = 1.47, P = 1.7 � 10(-5), respectively), and a rare (0.20%) frameshift variant in PDX1, encoding p.Gly218Alafs*12, associates with high risk of T2D (OR = 2.27, P = 7.3 � 10(-7)).]. 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_curated" } ], "http://semanticscience.org/resource/SIO_000772" : [ { "@id" : "http://identifiers.org/pubmed/24464100" } ], "http://www.w3.org/ns/prov#wasDerivedFrom" : [ { "@id" : "http://rdf.disgenet.org/v5.0.0/void/CTD_human" } ], "http://www.w3.org/ns/prov#wasGeneratedBy" : [ { "@id" : "http://purl.obolibrary.org/obo/ECO_0000218" } ] }, { "@id" : "http://rdf.disgenet.org/v5.0.0/void/CTD_human", "http://purl.org/pav/importedOn" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#date", "@value" : "2017-01-25" } ] }, { "@id" : "http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated", "@type" : [ "http://purl.obolibrary.org/obo/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/resource/nanopub/NP598797.RA5vqmq6VDJ6X9AXSns_TUjMMpv6d0k7Q8ZRbc_y3zuNI#provenance" }, { "@graph" : [ { "@id" : "http://rdf.disgenet.org/resource/nanopub/NP598797.RA5vqmq6VDJ6X9AXSns_TUjMMpv6d0k7Q8ZRbc_y3zuNI", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2017-10-17T13:14:00+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/NP598797.RA5vqmq6VDJ6X9AXSns_TUjMMpv6d0k7Q8ZRbc_y3zuNI#publicationInfo" } ]