@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1180466.RAR6oFbq1Zy_PRYo-E38CPaA91GQHSGY3YVqnX7VSYdLE> .
@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:NP1180466.RAR6oFbq1Zy_PRYo-E38CPaA91GQHSGY3YVqnX7VSYdLE130_head {
  this: np:hasAssertion dgn-np:NP1180466.RAR6oFbq1Zy_PRYo-E38CPaA91GQHSGY3YVqnX7VSYdLE130_assertion;
    np:hasProvenance dgn-np:NP1180466.RAR6oFbq1Zy_PRYo-E38CPaA91GQHSGY3YVqnX7VSYdLE130_provenance;
    np:hasPublicationInfo dgn-np:NP1180466.RAR6oFbq1Zy_PRYo-E38CPaA91GQHSGY3YVqnX7VSYdLE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1180466.RAR6oFbq1Zy_PRYo-E38CPaA91GQHSGY3YVqnX7VSYdLE130_assertion a np:Assertion .
  
  dgn-np:NP1180466.RAR6oFbq1Zy_PRYo-E38CPaA91GQHSGY3YVqnX7VSYdLE130_provenance a np:Provenance .
  
  dgn-np:NP1180466.RAR6oFbq1Zy_PRYo-E38CPaA91GQHSGY3YVqnX7VSYdLE130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1180466.RAR6oFbq1Zy_PRYo-E38CPaA91GQHSGY3YVqnX7VSYdLE130_assertion {
  miriam-gene:2706 a ncit:C16612 .
  
  lld:C0394006 a ncit:C7057 .
  
  dgn-gda:DGN7e8109fa9c207b412f39eb30619b86c4 sio:SIO_000628 miriam-gene:2706, lld:C0394006;
    a sio:SIO_001121 .
}

dgn-np:NP1180466.RAR6oFbq1Zy_PRYo-E38CPaA91GQHSGY3YVqnX7VSYdLE130_provenance {
  dgn-np:NP1180466.RAR6oFbq1Zy_PRYo-E38CPaA91GQHSGY3YVqnX7VSYdLE130_assertion dcterms:description
      "[The deleted region hereby reported encompassed 34 known genes, including GJA3, GJB2, and GJB6, which are responsible for autosomal recessive deafness, FGF9, which plays crucial roles in embryonic neurological development, and ATP8A2, which causes a cerebellar ataxia and disequilibrium 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:24807585;
    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:NP1180466.RAR6oFbq1Zy_PRYo-E38CPaA91GQHSGY3YVqnX7VSYdLE130_publicationInfo {
  this: dcterms:created "2016-05-13T12:50:41+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" .
}