@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c> .
@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:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_head {
  this: np:hasAssertion dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_assertion;
    np:hasProvenance dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_provenance;
    np:hasPublicationInfo dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_assertion a np:Assertion .
  
  dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_provenance a np:Provenance .
  
  dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_assertion {
  miriam-gene:6866 a ncit:C16612 .
  
  lld:C0271623 a ncit:C7057 .
  
  dgn-gda:DGN70b04758c26de7831c6b4c9c93c1b5bd sio:SIO_000628 miriam-gene:6866, lld:C0271623;
    a sio:SIO_001121 .
}

dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_provenance {
  dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_assertion dcterms:description
      "[The results suggest hypothalamic dysfunction as the primary cause for IHH in patients with biallelic TACR3 mutations and clinical manifestation in heterozygous females, together with the rarity of TAC3 and TACR3 mutations in patients with IHH.]. 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:20395662;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_publicationInfo {
  this: dcterms:created "2015-08-25T14:44:55+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" .
}