@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP377967.RAnlfSxfarL0VO6t22iMgM1JB8J9XvABzzf1U0vbpperQ> .
@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:NP377967.RAnlfSxfarL0VO6t22iMgM1JB8J9XvABzzf1U0vbpperQ130_head {
  this: np:hasAssertion dgn-np:NP377967.RAnlfSxfarL0VO6t22iMgM1JB8J9XvABzzf1U0vbpperQ130_assertion;
    np:hasProvenance dgn-np:NP377967.RAnlfSxfarL0VO6t22iMgM1JB8J9XvABzzf1U0vbpperQ130_provenance;
    np:hasPublicationInfo dgn-np:NP377967.RAnlfSxfarL0VO6t22iMgM1JB8J9XvABzzf1U0vbpperQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP377967.RAnlfSxfarL0VO6t22iMgM1JB8J9XvABzzf1U0vbpperQ130_assertion a np:Assertion .
  
  dgn-np:NP377967.RAnlfSxfarL0VO6t22iMgM1JB8J9XvABzzf1U0vbpperQ130_provenance a np:Provenance .
  
  dgn-np:NP377967.RAnlfSxfarL0VO6t22iMgM1JB8J9XvABzzf1U0vbpperQ130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP377967.RAnlfSxfarL0VO6t22iMgM1JB8J9XvABzzf1U0vbpperQ130_assertion {
  miriam-gene:5449 a ncit:C16612 .
  
  lld:C0000768 a ncit:C7057 .
  
  dgn-gda:DGN0637000308ce87ad731febb79e1d5a5c sio:SIO_000628 miriam-gene:5449, lld:C0000768;
    a sio:SIO_001121 .
}

dgn-np:NP377967.RAnlfSxfarL0VO6t22iMgM1JB8J9XvABzzf1U0vbpperQ130_provenance {
  dgn-np:NP377967.RAnlfSxfarL0VO6t22iMgM1JB8J9XvABzzf1U0vbpperQ130_assertion dcterms:description
      "[We recommend that patients with GH deficiency and ocular malformation in whom genetic analysis for classic transcription factor genes (PROP1, POU1F1, HESX1, and LHX4) failed to identify alterations should be checked for the presence of mutations in the OTX2 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:20396904;
    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:NP377967.RAnlfSxfarL0VO6t22iMgM1JB8J9XvABzzf1U0vbpperQ130_publicationInfo {
  this: dcterms:created "2014-10-02T12:35:41+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" .
}