@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP609056.RA_o3M---2Fe6VAayIZVcpe3BNsoOeJWFz5hi2fIKySsM> .
@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:NP609056.RA_o3M---2Fe6VAayIZVcpe3BNsoOeJWFz5hi2fIKySsM130_head {
  this: np:hasAssertion dgn-np:NP609056.RA_o3M---2Fe6VAayIZVcpe3BNsoOeJWFz5hi2fIKySsM130_assertion;
    np:hasProvenance dgn-np:NP609056.RA_o3M---2Fe6VAayIZVcpe3BNsoOeJWFz5hi2fIKySsM130_provenance;
    np:hasPublicationInfo dgn-np:NP609056.RA_o3M---2Fe6VAayIZVcpe3BNsoOeJWFz5hi2fIKySsM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP609056.RA_o3M---2Fe6VAayIZVcpe3BNsoOeJWFz5hi2fIKySsM130_assertion a np:Assertion .
  
  dgn-np:NP609056.RA_o3M---2Fe6VAayIZVcpe3BNsoOeJWFz5hi2fIKySsM130_provenance a np:Provenance .
  
  dgn-np:NP609056.RA_o3M---2Fe6VAayIZVcpe3BNsoOeJWFz5hi2fIKySsM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP609056.RA_o3M---2Fe6VAayIZVcpe3BNsoOeJWFz5hi2fIKySsM130_assertion {
  miriam-gene:50506 a ncit:C16612 .
  
  lld:C0342200 a ncit:C7057 .
  
  dgn-gda:DGN848f06c7797b451433becb31a8d0d0e2 sio:SIO_000628 miriam-gene:50506, lld:C0342200;
    a sio:SIO_001121 .
}

dgn-np:NP609056.RA_o3M---2Fe6VAayIZVcpe3BNsoOeJWFz5hi2fIKySsM130_provenance {
  dgn-np:NP609056.RA_o3M---2Fe6VAayIZVcpe3BNsoOeJWFz5hi2fIKySsM130_assertion dcterms:description
      "[Only one study reported mutations in DUOX2 gene in congenital hypothyroidism (CH) associated with total iodide organification defect (TIOD) in homozygosity or with partial iodide organification defect (PIOD) in heterozygous patients.]. 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:16134168;
    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:NP609056.RA_o3M---2Fe6VAayIZVcpe3BNsoOeJWFz5hi2fIKySsM130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:05+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" .
}