@prefix orcid: <http://orcid.org/> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP1191.RAn_KbKvT4BMiSaVX2o_l7E7V4ZICiXgnlNJ05E-8S4aU> .
@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 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:NP1191.RAn_KbKvT4BMiSaVX2o_l7E7V4ZICiXgnlNJ05E-8S4aU130_head {
  this: np:hasAssertion dgn-np:NP1191.RAn_KbKvT4BMiSaVX2o_l7E7V4ZICiXgnlNJ05E-8S4aU130_assertion;
    np:hasProvenance dgn-np:NP1191.RAn_KbKvT4BMiSaVX2o_l7E7V4ZICiXgnlNJ05E-8S4aU130_provenance;
    np:hasPublicationInfo dgn-np:NP1191.RAn_KbKvT4BMiSaVX2o_l7E7V4ZICiXgnlNJ05E-8S4aU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1191.RAn_KbKvT4BMiSaVX2o_l7E7V4ZICiXgnlNJ05E-8S4aU130_assertion a np:Assertion .
  
  dgn-np:NP1191.RAn_KbKvT4BMiSaVX2o_l7E7V4ZICiXgnlNJ05E-8S4aU130_provenance a np:Provenance .
  
  dgn-np:NP1191.RAn_KbKvT4BMiSaVX2o_l7E7V4ZICiXgnlNJ05E-8S4aU130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP1191.RAn_KbKvT4BMiSaVX2o_l7E7V4ZICiXgnlNJ05E-8S4aU130_assertion {
  miriam-gene:1184 a ncit:C16612 .
  
  lld:C1848336 a ncit:C7057 .
  
  dgn-gda:DGN8c4175c250788bfc8360ba62a801fa51 sio:SIO_000628 miriam-gene:1184, lld:C1848336;
    a sio:SIO_001122 .
}

dgn-np:NP1191.RAn_KbKvT4BMiSaVX2o_l7E7V4ZICiXgnlNJ05E-8S4aU130_provenance {
  dgn-np:NP1191.RAn_KbKvT4BMiSaVX2o_l7E7V4ZICiXgnlNJ05E-8S4aU130_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_curated;
    sio:SIO_000772 miriam-pubmed:15086899;
    prov:wasDerivedFrom dgn-void:uniprot-20130724;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}

dgn-np:NP1191.RAn_KbKvT4BMiSaVX2o_l7E7V4ZICiXgnlNJ05E-8S4aU130_publicationInfo {
  this: dcterms:created "2014-10-02T12:31:58+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 orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
      orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
    pav:createdBy orcid:0000-0003-0169-8159;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}