@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP595611.RAZ0FLnoGpzNTpUMVGUWi5Nu30biYBrjBKtLD0zRLzBg8> .
@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:NP595611.RAZ0FLnoGpzNTpUMVGUWi5Nu30biYBrjBKtLD0zRLzBg8130_head {
  this: np:hasAssertion dgn-np:NP595611.RAZ0FLnoGpzNTpUMVGUWi5Nu30biYBrjBKtLD0zRLzBg8130_assertion;
    np:hasProvenance dgn-np:NP595611.RAZ0FLnoGpzNTpUMVGUWi5Nu30biYBrjBKtLD0zRLzBg8130_provenance;
    np:hasPublicationInfo dgn-np:NP595611.RAZ0FLnoGpzNTpUMVGUWi5Nu30biYBrjBKtLD0zRLzBg8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP595611.RAZ0FLnoGpzNTpUMVGUWi5Nu30biYBrjBKtLD0zRLzBg8130_assertion a np:Assertion .
  
  dgn-np:NP595611.RAZ0FLnoGpzNTpUMVGUWi5Nu30biYBrjBKtLD0zRLzBg8130_provenance a np:Provenance .
  
  dgn-np:NP595611.RAZ0FLnoGpzNTpUMVGUWi5Nu30biYBrjBKtLD0zRLzBg8130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP595611.RAZ0FLnoGpzNTpUMVGUWi5Nu30biYBrjBKtLD0zRLzBg8130_assertion {
  miriam-gene:6528 a ncit:C16612 .
  
  lld:C0010308 a ncit:C7057 .
  
  dgn-gda:DGN9e849bf02f5b76a24849a6b137db11da sio:SIO_000628 miriam-gene:6528, lld:C0010308;
    a sio:SIO_001121 .
}

dgn-np:NP595611.RAZ0FLnoGpzNTpUMVGUWi5Nu30biYBrjBKtLD0zRLzBg8130_provenance {
  dgn-np:NP595611.RAZ0FLnoGpzNTpUMVGUWi5Nu30biYBrjBKtLD0zRLzBg8130_assertion dcterms:description
      "[It is now possible to use gene diagnostics of this unique NIS mutation to identify patients with congenital hypothyroidism due to an iodide transport defect in this family and to determine the carrier state of potential parents for genetic counseling and arranging rapid and early diagnosis of their infants.]. 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:10487695;
    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:NP595611.RAZ0FLnoGpzNTpUMVGUWi5Nu30biYBrjBKtLD0zRLzBg8130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:58+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" .
}