@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP13052.RAYE1pSdDf1nM2fWTFjKM1bTwV9suJggqlqQkqUXw7dUg> .
@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:NP13052.RAYE1pSdDf1nM2fWTFjKM1bTwV9suJggqlqQkqUXw7dUg130_head {
  this: np:hasAssertion dgn-np:NP13052.RAYE1pSdDf1nM2fWTFjKM1bTwV9suJggqlqQkqUXw7dUg130_assertion;
    np:hasProvenance dgn-np:NP13052.RAYE1pSdDf1nM2fWTFjKM1bTwV9suJggqlqQkqUXw7dUg130_provenance;
    np:hasPublicationInfo dgn-np:NP13052.RAYE1pSdDf1nM2fWTFjKM1bTwV9suJggqlqQkqUXw7dUg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP13052.RAYE1pSdDf1nM2fWTFjKM1bTwV9suJggqlqQkqUXw7dUg130_assertion a np:Assertion .
  
  dgn-np:NP13052.RAYE1pSdDf1nM2fWTFjKM1bTwV9suJggqlqQkqUXw7dUg130_provenance a np:Provenance .
  
  dgn-np:NP13052.RAYE1pSdDf1nM2fWTFjKM1bTwV9suJggqlqQkqUXw7dUg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP13052.RAYE1pSdDf1nM2fWTFjKM1bTwV9suJggqlqQkqUXw7dUg130_assertion {
  miriam-gene:50506 a ncit:C16612 .
  
  lld:C0010308 a ncit:C7057 .
  
  dgn-gda:DGNd962ab90df00b336cede0815f7cf0be5 sio:SIO_000628 miriam-gene:50506, lld:C0010308;
    a sio:SIO_001121 .
}

dgn-np:NP13052.RAYE1pSdDf1nM2fWTFjKM1bTwV9suJggqlqQkqUXw7dUg130_provenance {
  dgn-np:NP13052.RAYE1pSdDf1nM2fWTFjKM1bTwV9suJggqlqQkqUXw7dUg130_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_curated;
    sio:SIO_000772 miriam-pubmed:16134168;
    prov:wasDerivedFrom dgn-void:ctd_human-20150221;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:ctd_human-20150221 pav:importedOn "2015-02-21"^^xsd:date .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
}

dgn-np:NP13052.RAYE1pSdDf1nM2fWTFjKM1bTwV9suJggqlqQkqUXw7dUg130_publicationInfo {
  this: dcterms:created "2015-08-25T14:37:48+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" .
}