@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP686349.RABFqtISgkZPXjwltMje2XUpaoWuoReMDTHOGk5ko8jvs> .
@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:NP686349.RABFqtISgkZPXjwltMje2XUpaoWuoReMDTHOGk5ko8jvs130_head {
  this: np:hasAssertion dgn-np:NP686349.RABFqtISgkZPXjwltMje2XUpaoWuoReMDTHOGk5ko8jvs130_assertion;
    np:hasProvenance dgn-np:NP686349.RABFqtISgkZPXjwltMje2XUpaoWuoReMDTHOGk5ko8jvs130_provenance;
    np:hasPublicationInfo dgn-np:NP686349.RABFqtISgkZPXjwltMje2XUpaoWuoReMDTHOGk5ko8jvs130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP686349.RABFqtISgkZPXjwltMje2XUpaoWuoReMDTHOGk5ko8jvs130_assertion a np:Assertion .
  
  dgn-np:NP686349.RABFqtISgkZPXjwltMje2XUpaoWuoReMDTHOGk5ko8jvs130_provenance a np:Provenance .
  
  dgn-np:NP686349.RABFqtISgkZPXjwltMje2XUpaoWuoReMDTHOGk5ko8jvs130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP686349.RABFqtISgkZPXjwltMje2XUpaoWuoReMDTHOGk5ko8jvs130_assertion {
  miriam-gene:5251 a ncit:C16612 .
  
  lld:C0020502 a ncit:C7057 .
  
  dgn-gda:DGNe41acd82b7341288935a8aa1bd152996 sio:SIO_000628 miriam-gene:5251, lld:C0020502;
    a sio:SIO_001121 .
}

dgn-np:NP686349.RABFqtISgkZPXjwltMje2XUpaoWuoReMDTHOGk5ko8jvs130_provenance {
  dgn-np:NP686349.RABFqtISgkZPXjwltMje2XUpaoWuoReMDTHOGk5ko8jvs130_assertion dcterms:description
      "[We describe a patient with XLH caused by a novel missense mutation in the PHEX gene, who on treatment with alfacalcidol and oral phosphate had normal growth and minimal bone deformities, but who subsequently developed moderate nephrocalcinosis, significant hyperparathyroidism, hypercalcemia, renal failure, and hypertension.]. 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:18775977;
    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:NP686349.RABFqtISgkZPXjwltMje2XUpaoWuoReMDTHOGk5ko8jvs130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:57+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" .
}