@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0> .
@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/v4.0.0/void/> .

dgn-np:NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_head {
  this: np:hasAssertion dgn-np:NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_assertion;
    np:hasProvenance dgn-np:NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_provenance;
    np:hasPublicationInfo dgn-np:NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_assertion a np:Assertion .
  
  dgn-np:NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_provenance a np:Provenance .
  
  dgn-np:NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_assertion {
  miriam-gene:6662 a ncit:C16612 .
  
  lld:C0795693 a ncit:C7057 .
  
  dgn-gda:DGNe78559aca4077af8a9dbdfed0449f49e sio:SIO_000628 miriam-gene:6662, lld:C0795693;
    a sio:SIO_001121 .
}

dgn-np:NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_provenance {
  dgn-np:NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_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-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_publicationInfo {
  this: dcterms:created "2016-05-13T12:46:11+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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}