@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP248004.RAgXykcM32B9NbDtsI6Wl4sAO3TsFbte7SmjMThTgFb5o> .
@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:NP248004.RAgXykcM32B9NbDtsI6Wl4sAO3TsFbte7SmjMThTgFb5o130_head {
  this: np:hasAssertion dgn-np:NP248004.RAgXykcM32B9NbDtsI6Wl4sAO3TsFbte7SmjMThTgFb5o130_assertion;
    np:hasProvenance dgn-np:NP248004.RAgXykcM32B9NbDtsI6Wl4sAO3TsFbte7SmjMThTgFb5o130_provenance;
    np:hasPublicationInfo dgn-np:NP248004.RAgXykcM32B9NbDtsI6Wl4sAO3TsFbte7SmjMThTgFb5o130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP248004.RAgXykcM32B9NbDtsI6Wl4sAO3TsFbte7SmjMThTgFb5o130_assertion a np:Assertion .
  
  dgn-np:NP248004.RAgXykcM32B9NbDtsI6Wl4sAO3TsFbte7SmjMThTgFb5o130_provenance a np:Provenance .
  
  dgn-np:NP248004.RAgXykcM32B9NbDtsI6Wl4sAO3TsFbte7SmjMThTgFb5o130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP248004.RAgXykcM32B9NbDtsI6Wl4sAO3TsFbte7SmjMThTgFb5o130_assertion {
  miriam-gene:2688 a ncit:C16612 .
  
  lld:C0022573 a ncit:C7057 .
  
  dgn-gda:DGNbb9105ed8ee0a536ff740749c8765672 sio:SIO_000628 miriam-gene:2688, lld:C0022573;
    a sio:SIO_001121 .
}

dgn-np:NP248004.RAgXykcM32B9NbDtsI6Wl4sAO3TsFbte7SmjMThTgFb5o130_provenance {
  dgn-np:NP248004.RAgXykcM32B9NbDtsI6Wl4sAO3TsFbte7SmjMThTgFb5o130_assertion dcterms:description
      "[The index patient's phenotype was severe, manifested by classic features of the illness (adrenal insufficiency, hypoparathyroidism, candidiasis, and keratoconjunctivitis with alopecia universalis), as well as by severe exocrine pancreatic insufficiency, diabetes mellitus, hepatic inflammation, growth hormone (GH) deficiency due to lymphocytic hypophysitis, and primary ovarian failure.]. 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:10084559;
    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:NP248004.RAgXykcM32B9NbDtsI6Wl4sAO3TsFbte7SmjMThTgFb5o130_publicationInfo {
  this: dcterms:created "2016-05-13T12:43:38+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" .
}