@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48> .
@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/v3.0.0/void/> .

dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_head {
  this: np:hasAssertion dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_assertion;
    np:hasProvenance dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_provenance;
    np:hasPublicationInfo dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_assertion a np:Assertion .
  
  dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_provenance a np:Provenance .
  
  dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_assertion {
  miriam-gene:3815 a ncit:C16612 .
  
  lld:C0080024 a ncit:C7057 .
  
  dgn-gda:DGNe1ec5bb109c281b31581ffda45f853d4 sio:SIO_000628 miriam-gene:3815, lld:C0080024;
    a sio:SIO_001121 .
}

dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_provenance {
  dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_assertion dcterms:description
      "[Thus, the occurrence of sensorineural deafness in this patient extends considerably the phenotypic range of piebaldism due to KIT gene mutation in humans and tightens the clinical similarity between piebaldism and the various forms of Waardenburg 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:9450866;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_publicationInfo {
  this: dcterms:created "2015-08-25T14:42:51+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}