@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg> .
@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:NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_head {
  this: np:hasAssertion dgn-np:NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_assertion;
    np:hasProvenance dgn-np:NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_provenance;
    np:hasPublicationInfo dgn-np:NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_assertion a np:Assertion .
  
  dgn-np:NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_provenance a np:Provenance .
  
  dgn-np:NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_assertion {
  miriam-gene:51151 a ncit:C16612 .
  
  lld:C0078918 a ncit:C7057 .
  
  dgn-gda:DGNf2da76ebd2bf0b0d3829b90de4bb21c8 sio:SIO_000628 miriam-gene:51151, lld:C0078918;
    a sio:SIO_001122 .
}

dgn-np:NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_provenance {
  dgn-np:NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_assertion dcterms:description
      "[To assess the prevalence of different forms of OCA and different gene mutations among non-Hispanic Caucasian patients, we performed DNA sequence analysis of the four genes associated with 'classical' OCA (TYR, OCA2, TYRP1, SLC45A2), the two principal genes associated with syndromic OCA (HPS1, HPS4), and a candidate OCA gene (SILV), in 121 unrelated, unselected non-Hispanic/Latino Caucasian patients carrying the clinical diagnosis of OCA.]. 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:18463683;
    prov:wasDerivedFrom dgn-void:gad-20150221;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:gad-20150221 pav:importedOn "2015-02-21"^^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:NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_publicationInfo {
  this: dcterms:created "2015-08-25T14:38:45+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" .
}