@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP270518.RAiFDZnvaMAhVVHJshCnoq4U2eUNEgleibxUWBfGdUqj4> .
@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:NP270518.RAiFDZnvaMAhVVHJshCnoq4U2eUNEgleibxUWBfGdUqj4130_head {
  this: np:hasAssertion dgn-np:NP270518.RAiFDZnvaMAhVVHJshCnoq4U2eUNEgleibxUWBfGdUqj4130_assertion;
    np:hasProvenance dgn-np:NP270518.RAiFDZnvaMAhVVHJshCnoq4U2eUNEgleibxUWBfGdUqj4130_provenance;
    np:hasPublicationInfo dgn-np:NP270518.RAiFDZnvaMAhVVHJshCnoq4U2eUNEgleibxUWBfGdUqj4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP270518.RAiFDZnvaMAhVVHJshCnoq4U2eUNEgleibxUWBfGdUqj4130_assertion a np:Assertion .
  
  dgn-np:NP270518.RAiFDZnvaMAhVVHJshCnoq4U2eUNEgleibxUWBfGdUqj4130_provenance a np:Provenance .
  
  dgn-np:NP270518.RAiFDZnvaMAhVVHJshCnoq4U2eUNEgleibxUWBfGdUqj4130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP270518.RAiFDZnvaMAhVVHJshCnoq4U2eUNEgleibxUWBfGdUqj4130_assertion {
  miriam-gene:7827 a ncit:C16612 .
  
  lld:C2316810 a ncit:C7057 .
  
  dgn-gda:DGN84829bbe18eee8d166d7dcb935e2b4ea sio:SIO_000628 miriam-gene:7827, lld:C2316810;
    a sio:SIO_001121 .
}

dgn-np:NP270518.RAiFDZnvaMAhVVHJshCnoq4U2eUNEgleibxUWBfGdUqj4130_provenance {
  dgn-np:NP270518.RAiFDZnvaMAhVVHJshCnoq4U2eUNEgleibxUWBfGdUqj4130_assertion dcterms:description
      "[Significantly higher age at onset of the disease and slower progression to ESRD were found in patients with one pathogenic mutation plus the p.R229Q variant in respect to patients with two NPHS2 pathogenic mutations.]. 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:20947785;
    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:NP270518.RAiFDZnvaMAhVVHJshCnoq4U2eUNEgleibxUWBfGdUqj4130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:31+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" .
}