@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP325477.RAfDfQ2i1lD_2BgXG6-IKVKygMt2lgjLF43dT2hprFyec> .
@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:NP325477.RAfDfQ2i1lD_2BgXG6-IKVKygMt2lgjLF43dT2hprFyec130_head {
  this: np:hasAssertion dgn-np:NP325477.RAfDfQ2i1lD_2BgXG6-IKVKygMt2lgjLF43dT2hprFyec130_assertion;
    np:hasProvenance dgn-np:NP325477.RAfDfQ2i1lD_2BgXG6-IKVKygMt2lgjLF43dT2hprFyec130_provenance;
    np:hasPublicationInfo dgn-np:NP325477.RAfDfQ2i1lD_2BgXG6-IKVKygMt2lgjLF43dT2hprFyec130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP325477.RAfDfQ2i1lD_2BgXG6-IKVKygMt2lgjLF43dT2hprFyec130_assertion a np:Assertion .
  
  dgn-np:NP325477.RAfDfQ2i1lD_2BgXG6-IKVKygMt2lgjLF43dT2hprFyec130_provenance a np:Provenance .
  
  dgn-np:NP325477.RAfDfQ2i1lD_2BgXG6-IKVKygMt2lgjLF43dT2hprFyec130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP325477.RAfDfQ2i1lD_2BgXG6-IKVKygMt2lgjLF43dT2hprFyec130_assertion {
  miriam-gene:8517 a ncit:C16612 .
  
  lld:C1706004 a ncit:C7057 .
  
  dgn-gda:DGNcff4b8435c7b348da5d9e1787cf1ef42 sio:SIO_000628 miriam-gene:8517, lld:C1706004;
    a sio:SIO_001121 .
}

dgn-np:NP325477.RAfDfQ2i1lD_2BgXG6-IKVKygMt2lgjLF43dT2hprFyec130_provenance {
  dgn-np:NP325477.RAfDfQ2i1lD_2BgXG6-IKVKygMt2lgjLF43dT2hprFyec130_assertion dcterms:description
      "[Patients with anhidrotic ectodermal dysplasia and immunodeficiency, which is caused by mutations in NEMO and IKBA, have sparse hair, dry skin, and conical teeth and are at increased risk of severe infections caused by pyogenic bacteria and atypical mycobacteria.]. 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:16237643;
    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:NP325477.RAfDfQ2i1lD_2BgXG6-IKVKygMt2lgjLF43dT2hprFyec130_publicationInfo {
  this: dcterms:created "2014-10-02T12:35:10+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" .
}