@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP305314.RAaYmWvcYNbt_3LC_DrLCwiKdOM5GdnV5hk1UG83krih0> .
@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:NP305314.RAaYmWvcYNbt_3LC_DrLCwiKdOM5GdnV5hk1UG83krih0130_head {
  this: np:hasAssertion dgn-np:NP305314.RAaYmWvcYNbt_3LC_DrLCwiKdOM5GdnV5hk1UG83krih0130_assertion;
    np:hasProvenance dgn-np:NP305314.RAaYmWvcYNbt_3LC_DrLCwiKdOM5GdnV5hk1UG83krih0130_provenance;
    np:hasPublicationInfo dgn-np:NP305314.RAaYmWvcYNbt_3LC_DrLCwiKdOM5GdnV5hk1UG83krih0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP305314.RAaYmWvcYNbt_3LC_DrLCwiKdOM5GdnV5hk1UG83krih0130_assertion a np:Assertion .
  
  dgn-np:NP305314.RAaYmWvcYNbt_3LC_DrLCwiKdOM5GdnV5hk1UG83krih0130_provenance a np:Provenance .
  
  dgn-np:NP305314.RAaYmWvcYNbt_3LC_DrLCwiKdOM5GdnV5hk1UG83krih0130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP305314.RAaYmWvcYNbt_3LC_DrLCwiKdOM5GdnV5hk1UG83krih0130_assertion {
  miriam-gene:2737 a ncit:C16612 .
  
  lld:C0152427 a ncit:C7057 .
  
  dgn-gda:DGNeb48edce219e6e5cc2d9f90a56635ab9 sio:SIO_000628 miriam-gene:2737, lld:C0152427;
    a sio:SIO_001121 .
}

dgn-np:NP305314.RAaYmWvcYNbt_3LC_DrLCwiKdOM5GdnV5hk1UG83krih0130_provenance {
  dgn-np:NP305314.RAaYmWvcYNbt_3LC_DrLCwiKdOM5GdnV5hk1UG83krih0130_assertion dcterms:description
      "[This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial-digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly.]. 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:20672375;
    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:NP305314.RAaYmWvcYNbt_3LC_DrLCwiKdOM5GdnV5hk1UG83krih0130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:55+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" .
}