@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM> .
@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:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_head {
  this: np:hasAssertion dgn-np:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_assertion;
    np:hasProvenance dgn-np:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_provenance;
    np:hasPublicationInfo dgn-np:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_assertion a np:Assertion .
  
  dgn-np:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_provenance a np:Provenance .
  
  dgn-np:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_assertion {
  miriam-gene:190 a ncit:C16612 .
  
  lld:C0520463 a ncit:C7057 .
  
  dgn-gda:DGN531e64d55ad2962f2dc445b4244c1410 sio:SIO_000628 miriam-gene:190, lld:C0520463;
    a sio:SIO_001121 .
}

dgn-np:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_provenance {
  dgn-np:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_assertion dcterms:description
      "[HHG is thought to affect all NR0B1 mutated patients who reach puberty and, as understanding of the disease has improved, more of these patients survive while presenting different features of the disease, this emphasizing the value of genetic testing in boys with primary adrenal insufficiency and suspected X-linked CAH.]. 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:25402384;
    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:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:07+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" .
}