@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP730112.RA5TQLbyO2k2PFc7cOLhRkZ9GGuva3_CVZzJuqxYiRmJM> .
@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:NP730112.RA5TQLbyO2k2PFc7cOLhRkZ9GGuva3_CVZzJuqxYiRmJM130_head {
  this: np:hasAssertion dgn-np:NP730112.RA5TQLbyO2k2PFc7cOLhRkZ9GGuva3_CVZzJuqxYiRmJM130_assertion;
    np:hasProvenance dgn-np:NP730112.RA5TQLbyO2k2PFc7cOLhRkZ9GGuva3_CVZzJuqxYiRmJM130_provenance;
    np:hasPublicationInfo dgn-np:NP730112.RA5TQLbyO2k2PFc7cOLhRkZ9GGuva3_CVZzJuqxYiRmJM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP730112.RA5TQLbyO2k2PFc7cOLhRkZ9GGuva3_CVZzJuqxYiRmJM130_assertion a np:Assertion .
  
  dgn-np:NP730112.RA5TQLbyO2k2PFc7cOLhRkZ9GGuva3_CVZzJuqxYiRmJM130_provenance a np:Provenance .
  
  dgn-np:NP730112.RA5TQLbyO2k2PFc7cOLhRkZ9GGuva3_CVZzJuqxYiRmJM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP730112.RA5TQLbyO2k2PFc7cOLhRkZ9GGuva3_CVZzJuqxYiRmJM130_assertion {
  miriam-gene:55636 a ncit:C16612 .
  
  lld:C0342200 a ncit:C7057 .
  
  dgn-gda:DGNcc158443c76efd0bf3b1623bee244d17 sio:SIO_000628 miriam-gene:55636, lld:C0342200;
    a sio:SIO_001121 .
}

dgn-np:NP730112.RA5TQLbyO2k2PFc7cOLhRkZ9GGuva3_CVZzJuqxYiRmJM130_provenance {
  dgn-np:NP730112.RA5TQLbyO2k2PFc7cOLhRkZ9GGuva3_CVZzJuqxYiRmJM130_assertion dcterms:description
      "[We report on a male infant with congenital hypothyroidism owing to athyreosis occurring with the CHARGE association (bilateral papillary coloboma, congenital heart disease, dysmorphic ears, sensorineural deafness, psychomotor retardation, cryptorchidism, facial palsy, and vesicoureteral reflux).]. 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:2051459;
    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:NP730112.RA5TQLbyO2k2PFc7cOLhRkZ9GGuva3_CVZzJuqxYiRmJM130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:23+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" .
}