@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk> .
@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:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_head {
  this: np:hasAssertion dgn-np:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_assertion;
    np:hasProvenance dgn-np:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_provenance;
    np:hasPublicationInfo dgn-np:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_assertion a np:Assertion .
  
  dgn-np:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_provenance a np:Provenance .
  
  dgn-np:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_assertion {
  miriam-gene:9839 a ncit:C16612 .
  
  lld:C1856113 a ncit:C7057 .
  
  dgn-gda:DGN109af419519495015ecd7d609d88c856 sio:SIO_000628 miriam-gene:9839, lld:C1856113;
    a sio:SIO_001121 .
}

dgn-np:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_provenance {
  dgn-np:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_assertion dcterms:description
      "[Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and is characterized by distinctive facial features, epilepsy, moderate to severe intellectual disability, corpus callosum abnormalities and other congenital malformations.]. 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:23322667;
    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:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_publicationInfo {
  this: dcterms:created "2016-05-13T12:49:39+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" .
}