@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1317419.RAV0wlXvwa0HF0vfoGn-9cV_Ew6M-nqVMvnkoXbcTCQH8> . @prefix sub: <http://rdf.disgenet.org/resource/nanopub/NP1317419.RAV0wlXvwa0HF0vfoGn-9cV_Ew6M-nqVMvnkoXbcTCQH8#> . @prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> . @prefix xsd: <http://www.w3.org/2001/XMLSchema#> . @prefix sio: <http://semanticscience.org/resource/> . @prefix lld: <http://linkedlifedata.com/resource/umls/id/> . @prefix miriam-gene: <http://identifiers.org/ncbigene/> . @prefix miriam-pubmed: <http://identifiers.org/pubmed/> . @prefix eco: <http://purl.obolibrary.org/obo/> . @prefix wi: <http://purl.org/ontology/wi/core#> . @prefix prov: <http://www.w3.org/ns/prov#> . @prefix pav: <http://purl.org/pav/> . @prefix prv: <http://purl.org/net/provenance/ns#> . @prefix dcterms: <http://purl.org/dc/terms/> . @prefix np: <http://www.nanopub.org/nschema#> . @prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> . @prefix dgn-void: <http://rdf.disgenet.org/v5.0.0/void/> . sub:head { this: np:hasAssertion sub:assertion; np:hasProvenance sub:provenance; np:hasPublicationInfo sub:publicationInfo; a np:Nanopublication . } sub:assertion { dgn-gda:DGNbfba8243edc4e60a0c0d24647f9cd4fe sio:SIO_000628 miriam-gene:53407, lld:C0003516; a sio:SIO_001122 . } sub:provenance { sub:assertion dcterms:description "[However, a region on chromosome 4p16, adjacent to the MSX1 and STX18 genes, was associated (P = 9.5 � 10??) with the risk of ostium secundum atrial septal defect (ASD) in the discovery cohort (N = 340 cases), and this association was replicated in a further 417 ASD cases and 2,520 controls (replication P = 5.0 � 10??; odds ratio (OR) in replication cohort = 1.40, 95% confidence interval (CI) = 1.19-1.65; combined P = 2.6 � 10?�?).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:23708191; prov:wasDerivedFrom dgn-void:BEFREE; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:BEFREE pav:importedOn "2017-02-19"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } sub:publicationInfo { this: dcterms:created "2017-10-17T13:18:34+02:00"^^xsd:dateTime; dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/>; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy <http://orcid.org/0000-0001-5999-6269>, <http://orcid.org/0000-0002-7534-7661>, <http://orcid.org/0000-0002-9383-528X>, <http://orcid.org/0000-0003-0169-8159>, <http://orcid.org/0000-0003-1244-7654>; pav:createdBy <http://orcid.org/0000-0003-0169-8159>; pav:version "v5.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v5.0.0" . }