@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP372696.RAs9V5f4rGEhowFDYPITGI1D9sRMPUHImN3uAWQduvUoY> .
@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:NP372696.RAs9V5f4rGEhowFDYPITGI1D9sRMPUHImN3uAWQduvUoY130_head {
  this: np:hasAssertion dgn-np:NP372696.RAs9V5f4rGEhowFDYPITGI1D9sRMPUHImN3uAWQduvUoY130_assertion;
    np:hasProvenance dgn-np:NP372696.RAs9V5f4rGEhowFDYPITGI1D9sRMPUHImN3uAWQduvUoY130_provenance;
    np:hasPublicationInfo dgn-np:NP372696.RAs9V5f4rGEhowFDYPITGI1D9sRMPUHImN3uAWQduvUoY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP372696.RAs9V5f4rGEhowFDYPITGI1D9sRMPUHImN3uAWQduvUoY130_assertion a np:Assertion .
  
  dgn-np:NP372696.RAs9V5f4rGEhowFDYPITGI1D9sRMPUHImN3uAWQduvUoY130_provenance a np:Provenance .
  
  dgn-np:NP372696.RAs9V5f4rGEhowFDYPITGI1D9sRMPUHImN3uAWQduvUoY130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP372696.RAs9V5f4rGEhowFDYPITGI1D9sRMPUHImN3uAWQduvUoY130_assertion {
  miriam-gene:1184 a ncit:C16612 .
  
  lld:C0027709 a ncit:C7057 .
  
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    a sio:SIO_001121 .
}

dgn-np:NP372696.RAs9V5f4rGEhowFDYPITGI1D9sRMPUHImN3uAWQduvUoY130_provenance {
  dgn-np:NP372696.RAs9V5f4rGEhowFDYPITGI1D9sRMPUHImN3uAWQduvUoY130_assertion dcterms:description
      "[We performed mutation analysis of the coding region of CLCN5 by DNA sequencing in 32 unrelated males, all of whom met the following three clinical criteria for the diagnosis of Dent's disease: (1) low-molecular-weight (LMW) proteinuria; (2) hypercalciuria; and (3) at least one of the following: nephrocalcinosis, kidney stones, renal insufficiency, hypophosphatemia, or hematuria.]. 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:15086899;
    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:NP372696.RAs9V5f4rGEhowFDYPITGI1D9sRMPUHImN3uAWQduvUoY130_publicationInfo {
  this: dcterms:created "2014-10-02T12:35:38+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: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" .
}