@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP954272.RAfK9Q9moUVvbozkV_bL5P9gi9c-t4Ji9TuQQulSLK8Tg> .
@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 ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@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-np: <http://rdf.disgenet.org/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .

dgn-np:NP954272.RAfK9Q9moUVvbozkV_bL5P9gi9c-t4Ji9TuQQulSLK8Tg130_head {
  this: np:hasAssertion dgn-np:NP954272.RAfK9Q9moUVvbozkV_bL5P9gi9c-t4Ji9TuQQulSLK8Tg130_assertion;
    np:hasProvenance dgn-np:NP954272.RAfK9Q9moUVvbozkV_bL5P9gi9c-t4Ji9TuQQulSLK8Tg130_provenance;
    np:hasPublicationInfo dgn-np:NP954272.RAfK9Q9moUVvbozkV_bL5P9gi9c-t4Ji9TuQQulSLK8Tg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP954272.RAfK9Q9moUVvbozkV_bL5P9gi9c-t4Ji9TuQQulSLK8Tg130_assertion a np:Assertion .
  
  dgn-np:NP954272.RAfK9Q9moUVvbozkV_bL5P9gi9c-t4Ji9TuQQulSLK8Tg130_provenance a np:Provenance .
  
  dgn-np:NP954272.RAfK9Q9moUVvbozkV_bL5P9gi9c-t4Ji9TuQQulSLK8Tg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP954272.RAfK9Q9moUVvbozkV_bL5P9gi9c-t4Ji9TuQQulSLK8Tg130_assertion {
  miriam-gene:2133 a ncit:C16612 .
  
  lld:C0015302 a ncit:C7057 .
  
  dgn-gda:DGN52b8b34e5926d58efe55f3fb6b6d2971 sio:SIO_000628 miriam-gene:2133, lld:C0015302;
    a sio:SIO_001121 .
}

dgn-np:NP954272.RAfK9Q9moUVvbozkV_bL5P9gi9c-t4Ji9TuQQulSLK8Tg130_provenance {
  dgn-np:NP954272.RAfK9Q9moUVvbozkV_bL5P9gi9c-t4Ji9TuQQulSLK8Tg130_assertion dcterms:description
      "[In our cohort of patients, variables such as female sex (odds ratio = 1.840; 95% confidence interval, 1.223 to 2.766), fewer than five skeletal sites with exostoses (odds ratio = 7.588; 95% confidence interval, 3.479 to 16.553), EXT2 mutations (odds ratio = 2.652; 95% confidence interval, 1.665 to 4.223), and absence of EXT1/2 mutations (odds ratio = 1.975; 95% confidence interval, 1.051 to 3.713) described patients with a mild phenotype; in contrast, a severe phenotype was associated with male sex (odds ratio = 2.431; 95% confidence interval, 1.544 to 3.826), EXT1 mutations (odds ratio = 6.817; 95% confidence interval, 1.003 to 46.348), and more than twenty affected skeletal sites (odds ratio = 2.413; 95% confidence interval, 1.144 to 5.091).]. 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:22258776;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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 .
}

dgn-np:NP954272.RAfK9Q9moUVvbozkV_bL5P9gi9c-t4Ji9TuQQulSLK8Tg130_publicationInfo {
  this: dcterms:created "2016-05-13T12:48:57+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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}