@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP138086.RAStUFV-p9WMMBxUmR4UeGyeU3a1dDI0DnTvjrPo6BQ8Y> .
@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/v3.0.0/void/> .

dgn-np:NP138086.RAStUFV-p9WMMBxUmR4UeGyeU3a1dDI0DnTvjrPo6BQ8Y130_head {
  this: np:hasAssertion dgn-np:NP138086.RAStUFV-p9WMMBxUmR4UeGyeU3a1dDI0DnTvjrPo6BQ8Y130_assertion;
    np:hasProvenance dgn-np:NP138086.RAStUFV-p9WMMBxUmR4UeGyeU3a1dDI0DnTvjrPo6BQ8Y130_provenance;
    np:hasPublicationInfo dgn-np:NP138086.RAStUFV-p9WMMBxUmR4UeGyeU3a1dDI0DnTvjrPo6BQ8Y130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP138086.RAStUFV-p9WMMBxUmR4UeGyeU3a1dDI0DnTvjrPo6BQ8Y130_assertion a np:Assertion .
  
  dgn-np:NP138086.RAStUFV-p9WMMBxUmR4UeGyeU3a1dDI0DnTvjrPo6BQ8Y130_provenance a np:Provenance .
  
  dgn-np:NP138086.RAStUFV-p9WMMBxUmR4UeGyeU3a1dDI0DnTvjrPo6BQ8Y130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP138086.RAStUFV-p9WMMBxUmR4UeGyeU3a1dDI0DnTvjrPo6BQ8Y130_assertion {
  miriam-gene:2746 a ncit:C16612 .
  
  lld:C2931834 a ncit:C7057 .
  
  dgn-gda:DGNec7e4a2d3a40d1b7b62d084ba4773575 sio:SIO_000628 miriam-gene:2746, lld:C2931834;
    a sio:SIO_001122 .
}

dgn-np:NP138086.RAStUFV-p9WMMBxUmR4UeGyeU3a1dDI0DnTvjrPo6BQ8Y130_provenance {
  dgn-np:NP138086.RAStUFV-p9WMMBxUmR4UeGyeU3a1dDI0DnTvjrPo6BQ8Y130_assertion dcterms:description
      "[In this large series, HNF4A mutations are the third most common cause of diazoxide responsive HH. We recommend that HNF4A sequencing is considered in all patients with diazoxide responsive HH diagnosed in the first week of life irrespective of a family hi]. 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:20164212;
    prov:wasDerivedFrom dgn-void:gad-20150221;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:gad-20150221 pav:importedOn "2015-02-21"^^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:NP138086.RAStUFV-p9WMMBxUmR4UeGyeU3a1dDI0DnTvjrPo6BQ8Y130_publicationInfo {
  this: dcterms:created "2015-08-25T14:38:57+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}