@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4> .
@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:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_head {
  this: np:hasAssertion dgn-np:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_assertion;
    np:hasProvenance dgn-np:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_provenance;
    np:hasPublicationInfo dgn-np:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_assertion a np:Assertion .
  
  dgn-np:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_provenance a np:Provenance .
  
  dgn-np:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_assertion {
  miriam-gene:326 a ncit:C16612 .
  
  lld:C0001403 a ncit:C7057 .
  
  dgn-gda:DGN6a2d6114ed8166a8df0c0e2547aaf1b7 sio:SIO_000628 miriam-gene:326, lld:C0001403;
    a sio:SIO_001121 .
}

dgn-np:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_provenance {
  dgn-np:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_assertion dcterms:description
      "[We describe two unrelated boys with autoimmune poly-endocrine-candidiasis-ectodermal dystrophy syndrome (APECED) who, in addition to manifesting the most common symptoms (chronic mucocutaneous candidiasis, hypoparathyroidism and Addison's disease), developed progressive muscular weakness in both the proximal and distal limbs, sensory loss and absent tendon reflexes.]. 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:18461357;
    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:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_publicationInfo {
  this: dcterms:created "2014-10-02T12:40:45+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" .
}