@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP692052.RA9d9wHN7AaojSL340jzZmkzs-A936IElCeXYkSL8JUuI> .
@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:NP692052.RA9d9wHN7AaojSL340jzZmkzs-A936IElCeXYkSL8JUuI130_head {
  this: np:hasAssertion dgn-np:NP692052.RA9d9wHN7AaojSL340jzZmkzs-A936IElCeXYkSL8JUuI130_assertion;
    np:hasProvenance dgn-np:NP692052.RA9d9wHN7AaojSL340jzZmkzs-A936IElCeXYkSL8JUuI130_provenance;
    np:hasPublicationInfo dgn-np:NP692052.RA9d9wHN7AaojSL340jzZmkzs-A936IElCeXYkSL8JUuI130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP692052.RA9d9wHN7AaojSL340jzZmkzs-A936IElCeXYkSL8JUuI130_assertion a np:Assertion .
  
  dgn-np:NP692052.RA9d9wHN7AaojSL340jzZmkzs-A936IElCeXYkSL8JUuI130_provenance a np:Provenance .
  
  dgn-np:NP692052.RA9d9wHN7AaojSL340jzZmkzs-A936IElCeXYkSL8JUuI130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP692052.RA9d9wHN7AaojSL340jzZmkzs-A936IElCeXYkSL8JUuI130_assertion {
  miriam-gene:57216 a ncit:C16612 .
  
  lld:C0026827 a ncit:C7057 .
  
  dgn-gda:DGN17a233990928d099fa0025115b0c0fc7 sio:SIO_000628 miriam-gene:57216, lld:C0026827;
    a sio:SIO_001121 .
}

dgn-np:NP692052.RA9d9wHN7AaojSL340jzZmkzs-A936IElCeXYkSL8JUuI130_provenance {
  dgn-np:NP692052.RA9d9wHN7AaojSL340jzZmkzs-A936IElCeXYkSL8JUuI130_assertion dcterms:description
      "[Kaufman oculocerebrofacial syndrome (KOS) is a developmental disorder characterised by reduced growth, microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse and laterally broad eyebrows, preauricular tags, and micrognathia), mental retardation, and generalised hypotonia.]. 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:23687348;
    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:NP692052.RA9d9wHN7AaojSL340jzZmkzs-A936IElCeXYkSL8JUuI130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:00+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" .
}