@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM> .
@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:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_head {
  this: np:hasAssertion dgn-np:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_assertion;
    np:hasProvenance dgn-np:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_provenance;
    np:hasPublicationInfo dgn-np:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_assertion a np:Assertion .
  
  dgn-np:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_provenance a np:Provenance .
  
  dgn-np:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_assertion {
  miriam-gene:4286 a ncit:C16612 .
  
  lld:C0078917 a ncit:C7057 .
  
  dgn-gda:DGN7e1d31cb1d27e467b934df7f40058713 sio:SIO_000628 miriam-gene:4286, lld:C0078917;
    a sio:SIO_001121 .
}

dgn-np:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_provenance {
  dgn-np:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_assertion dcterms:description
      "[The clinical presentation of WS is highly variable, and we believe that Tietz syndrome and WS2 with ocular albinism (OA) are likely two variations of WS2 due to the presence of modifiers.]. 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:19938076;
    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:NP200580.RARiDc1veGA6NaLpCjHdTUf73NNEho4cdLczMKuWeiAKM130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:50+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" .
}