@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP545156.RAHiqY3Scd_30rDOhzRhHq5aujxCt30eDmVfBJYNEp_x4> .
@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:NP545156.RAHiqY3Scd_30rDOhzRhHq5aujxCt30eDmVfBJYNEp_x4130_head {
  this: np:hasAssertion dgn-np:NP545156.RAHiqY3Scd_30rDOhzRhHq5aujxCt30eDmVfBJYNEp_x4130_assertion;
    np:hasProvenance dgn-np:NP545156.RAHiqY3Scd_30rDOhzRhHq5aujxCt30eDmVfBJYNEp_x4130_provenance;
    np:hasPublicationInfo dgn-np:NP545156.RAHiqY3Scd_30rDOhzRhHq5aujxCt30eDmVfBJYNEp_x4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP545156.RAHiqY3Scd_30rDOhzRhHq5aujxCt30eDmVfBJYNEp_x4130_assertion a np:Assertion .
  
  dgn-np:NP545156.RAHiqY3Scd_30rDOhzRhHq5aujxCt30eDmVfBJYNEp_x4130_provenance a np:Provenance .
  
  dgn-np:NP545156.RAHiqY3Scd_30rDOhzRhHq5aujxCt30eDmVfBJYNEp_x4130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP545156.RAHiqY3Scd_30rDOhzRhHq5aujxCt30eDmVfBJYNEp_x4130_assertion {
  miriam-gene:9839 a ncit:C16612 .
  
  lld:C0019569 a ncit:C7057 .
  
  dgn-gda:DGN70b523be8aea9ec08f9461d969bd498c sio:SIO_000628 miriam-gene:9839, lld:C0019569;
    a sio:SIO_001121 .
}

dgn-np:NP545156.RAHiqY3Scd_30rDOhzRhHq5aujxCt30eDmVfBJYNEp_x4130_provenance {
  dgn-np:NP545156.RAHiqY3Scd_30rDOhzRhHq5aujxCt30eDmVfBJYNEp_x4130_assertion dcterms:description
      "[Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now clear that RET and EDNRB are the primary genes implicated in the etiology of HSCR.]. 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:16618617;
    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:NP545156.RAHiqY3Scd_30rDOhzRhHq5aujxCt30eDmVfBJYNEp_x4130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:52+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" .
}