@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w> .
@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:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_head {
  this: np:hasAssertion dgn-np:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_assertion;
    np:hasProvenance dgn-np:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_provenance;
    np:hasPublicationInfo dgn-np:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_assertion a np:Assertion .
  
  dgn-np:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_provenance a np:Provenance .
  
  dgn-np:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_assertion {
  miriam-gene:11141 a ncit:C16612 .
  
  lld:C0432072 a ncit:C7057 .
  
  dgn-gda:DGN12bb78b32fdbc394f845e36d1784b515 sio:SIO_000628 miriam-gene:11141, lld:C0432072;
    a sio:SIO_001121 .
}

dgn-np:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_provenance {
  dgn-np:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_assertion dcterms:description
      "[We report on two nonrelated patients with MR and additional dysmorphic features who both show intragenic deletions of IL1RAPL1, one of them being de novo (exon 2) and the other one being inherited from his mother (exons 3-5).]. 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:21271657;
    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:NP868160.RAIV6BhyLOC7gl1IkV3Kn_xkoCU-EKX3_DEHv7_xnPG0w130_publicationInfo {
  this: dcterms:created "2016-05-13T12:48:18+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" .
}