@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP530670.RAhK8thqtH_AlnpUUE3CaIa7ugz61aWUcXvy9JBQ1nKT8> .
@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:NP530670.RAhK8thqtH_AlnpUUE3CaIa7ugz61aWUcXvy9JBQ1nKT8130_head {
  this: np:hasAssertion dgn-np:NP530670.RAhK8thqtH_AlnpUUE3CaIa7ugz61aWUcXvy9JBQ1nKT8130_assertion;
    np:hasProvenance dgn-np:NP530670.RAhK8thqtH_AlnpUUE3CaIa7ugz61aWUcXvy9JBQ1nKT8130_provenance;
    np:hasPublicationInfo dgn-np:NP530670.RAhK8thqtH_AlnpUUE3CaIa7ugz61aWUcXvy9JBQ1nKT8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP530670.RAhK8thqtH_AlnpUUE3CaIa7ugz61aWUcXvy9JBQ1nKT8130_assertion a np:Assertion .
  
  dgn-np:NP530670.RAhK8thqtH_AlnpUUE3CaIa7ugz61aWUcXvy9JBQ1nKT8130_provenance a np:Provenance .
  
  dgn-np:NP530670.RAhK8thqtH_AlnpUUE3CaIa7ugz61aWUcXvy9JBQ1nKT8130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP530670.RAhK8thqtH_AlnpUUE3CaIa7ugz61aWUcXvy9JBQ1nKT8130_assertion {
  miriam-gene:65217 a ncit:C16612 .
  
  lld:C0271097 a ncit:C7057 .
  
  dgn-gda:DGN8b5c017c719943a69cdfe8413db2bf58 sio:SIO_000628 miriam-gene:65217, lld:C0271097;
    a sio:SIO_001121 .
}

dgn-np:NP530670.RAhK8thqtH_AlnpUUE3CaIa7ugz61aWUcXvy9JBQ1nKT8130_provenance {
  dgn-np:NP530670.RAhK8thqtH_AlnpUUE3CaIa7ugz61aWUcXvy9JBQ1nKT8130_assertion dcterms:description
      "[Complete ophthalmic examinations were conducted on two boys and two girls from two related Hutterite families diagnosed with Usher syndrome type I. DNA from patients and their parents was first evaluated for a mutation in exon 10 of the protocadherin-related 15 (PCDH15) gene (c.1471delG), previously reported in southern Alberta Hutterite patients with Usher syndrome (USH1F).]. 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:22690115;
    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:NP530670.RAhK8thqtH_AlnpUUE3CaIa7ugz61aWUcXvy9JBQ1nKT8130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:20+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" .
}