@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP276972.RAh3h_yBOwcgsDJ1RCCzK3dEna_-b6t0BkPwjZwg-6oyg> .
@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/v4.0.0/void/> .

dgn-np:NP276972.RAh3h_yBOwcgsDJ1RCCzK3dEna_-b6t0BkPwjZwg-6oyg130_head {
  this: np:hasAssertion dgn-np:NP276972.RAh3h_yBOwcgsDJ1RCCzK3dEna_-b6t0BkPwjZwg-6oyg130_assertion;
    np:hasProvenance dgn-np:NP276972.RAh3h_yBOwcgsDJ1RCCzK3dEna_-b6t0BkPwjZwg-6oyg130_provenance;
    np:hasPublicationInfo dgn-np:NP276972.RAh3h_yBOwcgsDJ1RCCzK3dEna_-b6t0BkPwjZwg-6oyg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP276972.RAh3h_yBOwcgsDJ1RCCzK3dEna_-b6t0BkPwjZwg-6oyg130_assertion a np:Assertion .
  
  dgn-np:NP276972.RAh3h_yBOwcgsDJ1RCCzK3dEna_-b6t0BkPwjZwg-6oyg130_provenance a np:Provenance .
  
  dgn-np:NP276972.RAh3h_yBOwcgsDJ1RCCzK3dEna_-b6t0BkPwjZwg-6oyg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP276972.RAh3h_yBOwcgsDJ1RCCzK3dEna_-b6t0BkPwjZwg-6oyg130_assertion {
  miriam-gene:5172 a ncit:C16612 .
  
  lld:C0271829 a ncit:C7057 .
  
  dgn-gda:DGN4eaa1fbcafd54f41048b2883cad6e303 sio:SIO_000628 miriam-gene:5172, lld:C0271829;
    a sio:SIO_001121 .
}

dgn-np:NP276972.RAh3h_yBOwcgsDJ1RCCzK3dEna_-b6t0BkPwjZwg-6oyg130_provenance {
  dgn-np:NP276972.RAh3h_yBOwcgsDJ1RCCzK3dEna_-b6t0BkPwjZwg-6oyg130_assertion dcterms:description
      "[Malformations of the inner ear, specifically enlargement of the vestibular aqueduct, are common in Pendred syndrome and mutations in the PDS (Pendred Syndrome) gene have been recorded in patients presenting with deafness and vestibular aqueduct dilatation only, without other features of Pendred syndrome.]. 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:10700480;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP276972.RAh3h_yBOwcgsDJ1RCCzK3dEna_-b6t0BkPwjZwg-6oyg130_publicationInfo {
  this: dcterms:created "2016-05-13T12:43:51+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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}