@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw> .
@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/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@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/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .

dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_head {
  this: np:hasAssertion dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_assertion;
    np:hasProvenance dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_provenance;
    np:hasPublicationInfo dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_assertion a np:Assertion .
  
  dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_provenance a np:Provenance .
  
  dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_assertion {
  miriam-gene:4952 a ncit:C16612 .
  
  lld:C0028860 a ncit:C7057 .
  
  dgn-gda:DGN01b25b357ded7d86c5c33c048584a00d sio:SIO_000628 miriam-gene:4952, lld:C0028860;
    a sio:SIO_001121 .
}

dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_provenance {
  dgn-np:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_assertion dcterms:description
      "[Our findings confirm that OCRL1 is involved in the functional defects characteristic of Dent's disease and suggest that patients carrying missense mutations in exons where many Lowe mutations are mapped may represent a phenotypic variant of Lowe syndrome.]. 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:19582483;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP749615.RAf-wdmTCgpf_kWEkcyVhyIXduuOlX5zFsxwWKvF2SuDw130_publicationInfo {
  this: dcterms:created "2016-05-13T12:47:25+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:disgenetv3.0rdf;
    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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}