@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP849641.RAohWtPq8H5Fe5XuM5cu3Dbu8wGiJcrl1C74vodZpP_ZI> .
@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:NP849641.RAohWtPq8H5Fe5XuM5cu3Dbu8wGiJcrl1C74vodZpP_ZI130_head {
  this: np:hasAssertion dgn-np:NP849641.RAohWtPq8H5Fe5XuM5cu3Dbu8wGiJcrl1C74vodZpP_ZI130_assertion;
    np:hasProvenance dgn-np:NP849641.RAohWtPq8H5Fe5XuM5cu3Dbu8wGiJcrl1C74vodZpP_ZI130_provenance;
    np:hasPublicationInfo dgn-np:NP849641.RAohWtPq8H5Fe5XuM5cu3Dbu8wGiJcrl1C74vodZpP_ZI130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP849641.RAohWtPq8H5Fe5XuM5cu3Dbu8wGiJcrl1C74vodZpP_ZI130_assertion a np:Assertion .
  
  dgn-np:NP849641.RAohWtPq8H5Fe5XuM5cu3Dbu8wGiJcrl1C74vodZpP_ZI130_provenance a np:Provenance .
  
  dgn-np:NP849641.RAohWtPq8H5Fe5XuM5cu3Dbu8wGiJcrl1C74vodZpP_ZI130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP849641.RAohWtPq8H5Fe5XuM5cu3Dbu8wGiJcrl1C74vodZpP_ZI130_assertion {
  miriam-gene:2516 a ncit:C16612 .
  
  lld:C0452147 a ncit:C7057 .
  
  dgn-gda:DGN84c99a963cea02135676af9fe2eb194c sio:SIO_000628 miriam-gene:2516, lld:C0452147;
    a sio:SIO_001121 .
}

dgn-np:NP849641.RAohWtPq8H5Fe5XuM5cu3Dbu8wGiJcrl1C74vodZpP_ZI130_provenance {
  dgn-np:NP849641.RAohWtPq8H5Fe5XuM5cu3Dbu8wGiJcrl1C74vodZpP_ZI130_assertion dcterms:description
      "[NR5A1 mutations have been identified in patients with various forms of 46,XY disorders of sex development (DSD), including complete gonadal dysgenesis with or without adrenal insufficiency, mild testicular dysgenesis with ambiguous external genitalia or female external genitalia with clitoromegaly, and penoscrotal hypospadias.]. 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:21654157;
    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:NP849641.RAohWtPq8H5Fe5XuM5cu3Dbu8wGiJcrl1C74vodZpP_ZI130_publicationInfo {
  this: dcterms:created "2014-10-02T12:40:39+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" .
}