@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP330246.RACuVVeqYqMAP1MKwktn1uK8zr9kcW7uHN4LQbiTQwph8> .
@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:NP330246.RACuVVeqYqMAP1MKwktn1uK8zr9kcW7uHN4LQbiTQwph8130_head {
  this: np:hasAssertion dgn-np:NP330246.RACuVVeqYqMAP1MKwktn1uK8zr9kcW7uHN4LQbiTQwph8130_assertion;
    np:hasProvenance dgn-np:NP330246.RACuVVeqYqMAP1MKwktn1uK8zr9kcW7uHN4LQbiTQwph8130_provenance;
    np:hasPublicationInfo dgn-np:NP330246.RACuVVeqYqMAP1MKwktn1uK8zr9kcW7uHN4LQbiTQwph8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP330246.RACuVVeqYqMAP1MKwktn1uK8zr9kcW7uHN4LQbiTQwph8130_assertion a np:Assertion .
  
  dgn-np:NP330246.RACuVVeqYqMAP1MKwktn1uK8zr9kcW7uHN4LQbiTQwph8130_provenance a np:Provenance .
  
  dgn-np:NP330246.RACuVVeqYqMAP1MKwktn1uK8zr9kcW7uHN4LQbiTQwph8130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP330246.RACuVVeqYqMAP1MKwktn1uK8zr9kcW7uHN4LQbiTQwph8130_assertion {
  miriam-gene:2138 a ncit:C16612 .
  
  lld:C0546969 a ncit:C7057 .
  
  dgn-gda:DGNd34c39cd7911d597625f8f678c79ab51 sio:SIO_000628 miriam-gene:2138, lld:C0546969;
    a sio:SIO_001121 .
}

dgn-np:NP330246.RACuVVeqYqMAP1MKwktn1uK8zr9kcW7uHN4LQbiTQwph8130_provenance {
  dgn-np:NP330246.RACuVVeqYqMAP1MKwktn1uK8zr9kcW7uHN4LQbiTQwph8130_assertion dcterms:description
      "[PDS mutations were found only in patients with enlarged vestibular aqueducts and EYA1 mutations were detected only in patients with ear pits and cervical fistulae, indicating that these two genes are associated with particular forms of middle and inner ear malformation.]. 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:11558900;
    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:NP330246.RACuVVeqYqMAP1MKwktn1uK8zr9kcW7uHN4LQbiTQwph8130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:15+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" .
}