@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk> .
@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:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_head {
  this: np:hasAssertion dgn-np:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_assertion;
    np:hasProvenance dgn-np:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_provenance;
    np:hasPublicationInfo dgn-np:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_assertion a np:Assertion .
  
  dgn-np:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_provenance a np:Provenance .
  
  dgn-np:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_assertion {
  miriam-gene:2138 a ncit:C16612 .
  
  lld:C0546969 a ncit:C7057 .
  
  dgn-gda:DGNb927c158c92b0144952861b99f84373c sio:SIO_000628 miriam-gene:2138, lld:C0546969;
    a sio:SIO_001121 .
}

dgn-np:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_provenance {
  dgn-np:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_assertion dcterms:description
      "[We studied an extended family with AD inheritance of branchial arch anomalies (BAA), hearing loss, and ear pits, whose phenotype differed from that of patients with BOR in that none of the affected members had renal abnormalities or lacrimal duct stenosis.]. 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:9788564;
    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:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:16+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" .
}