@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP163960.RATkcQAEVwy3IpUulIkmv1k6eSfpOhWuxnuLPGjdZ8jwY> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@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/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP163960.RATkcQAEVwy3IpUulIkmv1k6eSfpOhWuxnuLPGjdZ8jwY130_head {
  this: np:hasAssertion dgn-np:NP163960.RATkcQAEVwy3IpUulIkmv1k6eSfpOhWuxnuLPGjdZ8jwY130_assertion;
    np:hasProvenance dgn-np:NP163960.RATkcQAEVwy3IpUulIkmv1k6eSfpOhWuxnuLPGjdZ8jwY130_provenance;
    np:hasPublicationInfo dgn-np:NP163960.RATkcQAEVwy3IpUulIkmv1k6eSfpOhWuxnuLPGjdZ8jwY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP163960.RATkcQAEVwy3IpUulIkmv1k6eSfpOhWuxnuLPGjdZ8jwY130_assertion a np:Assertion .
  
  dgn-np:NP163960.RATkcQAEVwy3IpUulIkmv1k6eSfpOhWuxnuLPGjdZ8jwY130_provenance a np:Provenance .
  
  dgn-np:NP163960.RATkcQAEVwy3IpUulIkmv1k6eSfpOhWuxnuLPGjdZ8jwY130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP163960.RATkcQAEVwy3IpUulIkmv1k6eSfpOhWuxnuLPGjdZ8jwY130_assertion {
  miriam-gene:5015 a ncit:C16612 .
  
  lld:C0013336 a ncit:C7057 .
  
  dgn-gda:DGNcac8f42e0e70374524456d264b666a04 sio:SIO_000628 miriam-gene:5015, lld:C0013336;
    a sio:SIO_001121 .
}

dgn-np:NP163960.RATkcQAEVwy3IpUulIkmv1k6eSfpOhWuxnuLPGjdZ8jwY130_provenance {
  dgn-np:NP163960.RATkcQAEVwy3IpUulIkmv1k6eSfpOhWuxnuLPGjdZ8jwY130_assertion dcterms:description
      "[As the majority of the OTX2 mutations found in patients with CPHD, IGHD, or short stature have been found in exon 5, we recommend starting mutational screening in those patients in exon 5 of the gene.]. 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:22715480;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP163960.RATkcQAEVwy3IpUulIkmv1k6eSfpOhWuxnuLPGjdZ8jwY130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:29+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}