@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ> .
@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:NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_head {
  this: np:hasAssertion dgn-np:NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_assertion;
    np:hasProvenance dgn-np:NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_provenance;
    np:hasPublicationInfo dgn-np:NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_assertion a np:Assertion .
  
  dgn-np:NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_provenance a np:Provenance .
  
  dgn-np:NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_assertion {
  miriam-gene:6662 a ncit:C16612 .
  
  lld:C0008626 a ncit:C7057 .
  
  dgn-gda:DGNff098e5a18758c0a438380abe8f1c0ef sio:SIO_000628 miriam-gene:6662, lld:C0008626;
    a sio:SIO_001121 .
}

dgn-np:NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_provenance {
  dgn-np:NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_assertion dcterms:description
      "[The semilethal skeletal malformation syndrome campomelic dysplasia (CD) with or without XY sex reversal is caused by mutations within the SOX9 gene on 17q24.3 or by chromosomal aberrations (translocations, inversions or deletions) with breakpoints outside the SOX9 coding region.]. 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:17204049;
    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:NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:40+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" .
}