@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP932649.RAl1EREE5GxahO-ofuj2WMMKthgrPEdhrYBIL4rT1D9OY> .
@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:NP932649.RAl1EREE5GxahO-ofuj2WMMKthgrPEdhrYBIL4rT1D9OY130_head {
  this: np:hasAssertion dgn-np:NP932649.RAl1EREE5GxahO-ofuj2WMMKthgrPEdhrYBIL4rT1D9OY130_assertion;
    np:hasProvenance dgn-np:NP932649.RAl1EREE5GxahO-ofuj2WMMKthgrPEdhrYBIL4rT1D9OY130_provenance;
    np:hasPublicationInfo dgn-np:NP932649.RAl1EREE5GxahO-ofuj2WMMKthgrPEdhrYBIL4rT1D9OY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP932649.RAl1EREE5GxahO-ofuj2WMMKthgrPEdhrYBIL4rT1D9OY130_assertion a np:Assertion .
  
  dgn-np:NP932649.RAl1EREE5GxahO-ofuj2WMMKthgrPEdhrYBIL4rT1D9OY130_provenance a np:Provenance .
  
  dgn-np:NP932649.RAl1EREE5GxahO-ofuj2WMMKthgrPEdhrYBIL4rT1D9OY130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP932649.RAl1EREE5GxahO-ofuj2WMMKthgrPEdhrYBIL4rT1D9OY130_assertion {
  miriam-gene:54806 a ncit:C16612 .
  
  lld:C0235031 a ncit:C7057 .
  
  dgn-gda:DGN38c79f7e02f2a65908fa384e1ac07794 sio:SIO_000628 miriam-gene:54806, lld:C0235031;
    a sio:SIO_001121 .
}

dgn-np:NP932649.RAl1EREE5GxahO-ofuj2WMMKthgrPEdhrYBIL4rT1D9OY130_provenance {
  dgn-np:NP932649.RAl1EREE5GxahO-ofuj2WMMKthgrPEdhrYBIL4rT1D9OY130_assertion dcterms:description
      "[Furthermore, five patients with NPHP1 mutations carried the AHI1 variant R830W, which was predicted to be `possibly damaging` and was found with significantly higher frequency than in healthy control subjects and in patients with NPHP1 mutations without neurologic symptoms (five of 26 versus four of 276 and three of 152 alleles; P < 0.001 and P < 0.002, respectively).]. 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:17409309;
    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:NP932649.RAl1EREE5GxahO-ofuj2WMMKthgrPEdhrYBIL4rT1D9OY130_publicationInfo {
  this: dcterms:created "2014-10-02T12:41:31+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" .
}