@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8> .
@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:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_head {
  this: np:hasAssertion dgn-np:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_assertion;
    np:hasProvenance dgn-np:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_provenance;
    np:hasPublicationInfo dgn-np:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_assertion a np:Assertion .
  
  dgn-np:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_provenance a np:Provenance .
  
  dgn-np:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_assertion {
  miriam-gene:2516 a ncit:C16612 .
  
  lld:C2751824 a ncit:C7057 .
  
  dgn-gda:DGN2ca40fab45a369da15fc578425b5e1c2 sio:SIO_000628 miriam-gene:2516, lld:C2751824;
    a sio:SIO_001121 .
}

dgn-np:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_provenance {
  dgn-np:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_assertion dcterms:description
      "[More recently, however, it has emerged that heterozygous loss of function mutations in NR5A1 can be found relatively frequently in children and adults with 46,XY disorders of sex development (DSD) but with apparently normal adrenal function.]. 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:18987494;
    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:NP172277.RAC-nhs6udC2Jngc2MeKpfDudvTdvHXFiDmFjen806-A8130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:33+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" .
}