@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP424207.RALNaQ7ySZdAln_inz5YZ8FVoEhUPHxF4amPZWrwVTmmY> .
@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/v3.0.0/void/> .
dgn-np:NP424207.RALNaQ7ySZdAln_inz5YZ8FVoEhUPHxF4amPZWrwVTmmY130_head {
   this: np:hasAssertion dgn-np:NP424207.RALNaQ7ySZdAln_inz5YZ8FVoEhUPHxF4amPZWrwVTmmY130_assertion ;
    np:hasProvenance dgn-np:NP424207.RALNaQ7ySZdAln_inz5YZ8FVoEhUPHxF4amPZWrwVTmmY130_provenance ;
    np:hasPublicationInfo dgn-np:NP424207.RALNaQ7ySZdAln_inz5YZ8FVoEhUPHxF4amPZWrwVTmmY130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP424207.RALNaQ7ySZdAln_inz5YZ8FVoEhUPHxF4amPZWrwVTmmY130_assertion a np:Assertion .
  dgn-np:NP424207.RALNaQ7ySZdAln_inz5YZ8FVoEhUPHxF4amPZWrwVTmmY130_provenance a np:Provenance .
  dgn-np:NP424207.RALNaQ7ySZdAln_inz5YZ8FVoEhUPHxF4amPZWrwVTmmY130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP424207.RALNaQ7ySZdAln_inz5YZ8FVoEhUPHxF4amPZWrwVTmmY130_assertion {
   miriam-gene:2688 a ncit:C16612 .
  lld:C0271606 a ncit:C7057 .
  dgn-gda:DGNf4926044525260bf1c7a7203359a5397 sio:SIO_000628 miriam-gene:2688 , lld:C0271606 ;
    a sio:SIO_001121 .
}
dgn-np:NP424207.RALNaQ7ySZdAln_inz5YZ8FVoEhUPHxF4amPZWrwVTmmY130_provenance {
   dgn-np:NP424207.RALNaQ7ySZdAln_inz5YZ8FVoEhUPHxF4amPZWrwVTmmY130_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-20150227 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP424207.RALNaQ7ySZdAln_inz5YZ8FVoEhUPHxF4amPZWrwVTmmY130_publicationInfo {
   this: dcterms:created "2015-08-25T14:41:47+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 "v3.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}